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GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 AND Chromosome 3q13.31 deletion syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 24, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003327614.4

Allele description [Variation Report for GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1]

GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1

Genes:
  • HACD2:3-hydroxyacyl-CoA dehydratase 2 [Gene - OMIM - HGNC]
  • LOC108004532:3q13.2-q13.31 distal HERV-H recombination region [Gene]
  • LOC108004531:3q13.2-q13.31 proximal HERV-H recombination region [Gene]
  • ABI3BP:ABI family member 3 binding protein [Gene - OMIM - HGNC]
  • ARL13B:ADP ribosylation factor like GTPase 13B [Gene - OMIM - HGNC]
  • ARL6:ADP ribosylation factor like GTPase 6 [Gene - OMIM - HGNC]
  • ADPRH:ADP-ribosylarginine hydrolase [Gene - OMIM - HGNC]
  • ARHGAP31-AS1:ARHGAP31 antisense RNA 1 [Gene - HGNC]
  • LOC129937098:ATAC-STARR-seq lymphoblastoid active region 20122 [Gene]
  • LOC129937099:ATAC-STARR-seq lymphoblastoid active region 20123 [Gene]
  • LOC129937100:ATAC-STARR-seq lymphoblastoid active region 20124 [Gene]
  • LOC129937101:ATAC-STARR-seq lymphoblastoid active region 20125 [Gene]
  • LOC129937105:ATAC-STARR-seq lymphoblastoid active region 20128 [Gene]
  • LOC129937107:ATAC-STARR-seq lymphoblastoid active region 20129 [Gene]
  • LOC129937108:ATAC-STARR-seq lymphoblastoid active region 20130 [Gene]
  • LOC129937109:ATAC-STARR-seq lymphoblastoid active region 20131 [Gene]
  • LOC129937110:ATAC-STARR-seq lymphoblastoid active region 20132 [Gene]
  • LOC129937112:ATAC-STARR-seq lymphoblastoid active region 20135 [Gene]
  • LOC129937115:ATAC-STARR-seq lymphoblastoid active region 20137 [Gene]
  • LOC129937118:ATAC-STARR-seq lymphoblastoid active region 20138 [Gene]
  • LOC129937119:ATAC-STARR-seq lymphoblastoid active region 20141 [Gene]
  • LOC129937122:ATAC-STARR-seq lymphoblastoid active region 20142 [Gene]
  • LOC129937123:ATAC-STARR-seq lymphoblastoid active region 20143 [Gene]
  • LOC129937124:ATAC-STARR-seq lymphoblastoid active region 20144 [Gene]
  • LOC129937126:ATAC-STARR-seq lymphoblastoid active region 20145 [Gene]
  • LOC129937127:ATAC-STARR-seq lymphoblastoid active region 20146 [Gene]
  • LOC129937128:ATAC-STARR-seq lymphoblastoid active region 20147 [Gene]
  • LOC129937129:ATAC-STARR-seq lymphoblastoid active region 20148 [Gene]
  • LOC129937133:ATAC-STARR-seq lymphoblastoid active region 20150 [Gene]
  • LOC129937136:ATAC-STARR-seq lymphoblastoid active region 20151 [Gene]
  • LOC129937138:ATAC-STARR-seq lymphoblastoid active region 20153 [Gene]
  • LOC129937139:ATAC-STARR-seq lymphoblastoid active region 20154 [Gene]
  • LOC129937140:ATAC-STARR-seq lymphoblastoid active region 20155 [Gene]
  • LOC129937142:ATAC-STARR-seq lymphoblastoid active region 20157 [Gene]
  • LOC129937143:ATAC-STARR-seq lymphoblastoid active region 20158 [Gene]
  • LOC129937144:ATAC-STARR-seq lymphoblastoid active region 20159 [Gene]
  • LOC129937148:ATAC-STARR-seq lymphoblastoid active region 20161 [Gene]
  • LOC129937149:ATAC-STARR-seq lymphoblastoid active region 20162 [Gene]
  • LOC129937150:ATAC-STARR-seq lymphoblastoid active region 20163 [Gene]
  • LOC129937151:ATAC-STARR-seq lymphoblastoid active region 20164 [Gene]
  • LOC129937152:ATAC-STARR-seq lymphoblastoid active region 20165 [Gene]
  • LOC129937153:ATAC-STARR-seq lymphoblastoid active region 20166 [Gene]
  • LOC129937154:ATAC-STARR-seq lymphoblastoid active region 20169 [Gene]
  • LOC129937155:ATAC-STARR-seq lymphoblastoid active region 20170 [Gene]
  • LOC129937156:ATAC-STARR-seq lymphoblastoid active region 20171 [Gene]
  • LOC129937157:ATAC-STARR-seq lymphoblastoid active region 20172 [Gene]
  • LOC129937158:ATAC-STARR-seq lymphoblastoid active region 20173 [Gene]
  • LOC129937159:ATAC-STARR-seq lymphoblastoid active region 20176 [Gene]
  • LOC129937160:ATAC-STARR-seq lymphoblastoid active region 20177 [Gene]
  • LOC129937161:ATAC-STARR-seq lymphoblastoid active region 20178 [Gene]
  • LOC129937162:ATAC-STARR-seq lymphoblastoid active region 20179 [Gene]
  • LOC129937163:ATAC-STARR-seq lymphoblastoid active region 20180 [Gene]
  • LOC129937165:ATAC-STARR-seq lymphoblastoid active region 20181 [Gene]
  • LOC129937166:ATAC-STARR-seq lymphoblastoid active region 20182 [Gene]
  • LOC129937167:ATAC-STARR-seq lymphoblastoid active region 20183 [Gene]
  • LOC129937168:ATAC-STARR-seq lymphoblastoid active region 20184 [Gene]
  • LOC129937169:ATAC-STARR-seq lymphoblastoid active region 20185 [Gene]
  • LOC129937170:ATAC-STARR-seq lymphoblastoid active region 20186 [Gene]
  • LOC129937171:ATAC-STARR-seq lymphoblastoid active region 20187 [Gene]
  • LOC129937172:ATAC-STARR-seq lymphoblastoid active region 20188 [Gene]
  • LOC129937173:ATAC-STARR-seq lymphoblastoid active region 20189 [Gene]
  • LOC129937174:ATAC-STARR-seq lymphoblastoid active region 20190 [Gene]
  • LOC129937175:ATAC-STARR-seq lymphoblastoid active region 20191 [Gene]
  • LOC129937176:ATAC-STARR-seq lymphoblastoid active region 20192 [Gene]
  • LOC129937179:ATAC-STARR-seq lymphoblastoid active region 20195 [Gene]
  • LOC129937181:ATAC-STARR-seq lymphoblastoid active region 20196 [Gene]
  • LOC129937182:ATAC-STARR-seq lymphoblastoid active region 20197 [Gene]
  • LOC129937183:ATAC-STARR-seq lymphoblastoid active region 20198 [Gene]
  • LOC129937185:ATAC-STARR-seq lymphoblastoid active region 20199 [Gene]
  • LOC129937186:ATAC-STARR-seq lymphoblastoid active region 20200 [Gene]
  • LOC129937188:ATAC-STARR-seq lymphoblastoid active region 20201 [Gene]
  • LOC129937191:ATAC-STARR-seq lymphoblastoid active region 20202 [Gene]
  • LOC129937192:ATAC-STARR-seq lymphoblastoid active region 20203 [Gene]
  • LOC129937197:ATAC-STARR-seq lymphoblastoid active region 20204 [Gene]
  • LOC129937198:ATAC-STARR-seq lymphoblastoid active region 20207 [Gene]
  • LOC129937203:ATAC-STARR-seq lymphoblastoid active region 20208 [Gene]
  • LOC129937204:ATAC-STARR-seq lymphoblastoid active region 20212 [Gene]
  • LOC129937205:ATAC-STARR-seq lymphoblastoid active region 20213 [Gene]
  • LOC129937206:ATAC-STARR-seq lymphoblastoid active region 20214 [Gene]
  • LOC129937208:ATAC-STARR-seq lymphoblastoid active region 20215 [Gene]
  • LOC129937209:ATAC-STARR-seq lymphoblastoid active region 20216 [Gene]
  • LOC129937211:ATAC-STARR-seq lymphoblastoid active region 20218 [Gene]
  • LOC129937212:ATAC-STARR-seq lymphoblastoid active region 20219 [Gene]
  • LOC129937213:ATAC-STARR-seq lymphoblastoid active region 20220 [Gene]
  • LOC129937214:ATAC-STARR-seq lymphoblastoid active region 20221 [Gene]
  • LOC129937215:ATAC-STARR-seq lymphoblastoid active region 20222 [Gene]
  • LOC129937216:ATAC-STARR-seq lymphoblastoid active region 20223 [Gene]
  • LOC129937218:ATAC-STARR-seq lymphoblastoid active region 20224 [Gene]
  • LOC129937219:ATAC-STARR-seq lymphoblastoid active region 20225 [Gene]
  • LOC129937220:ATAC-STARR-seq lymphoblastoid active region 20226 [Gene]
  • LOC129937221:ATAC-STARR-seq lymphoblastoid active region 20229 [Gene]
  • LOC129937222:ATAC-STARR-seq lymphoblastoid active region 20230 [Gene]
  • LOC129937223:ATAC-STARR-seq lymphoblastoid active region 20231 [Gene]
  • LOC129937224:ATAC-STARR-seq lymphoblastoid active region 20232 [Gene]
  • LOC129937225:ATAC-STARR-seq lymphoblastoid active region 20233 [Gene]
  • LOC129937226:ATAC-STARR-seq lymphoblastoid active region 20234 [Gene]
  • LOC129937227:ATAC-STARR-seq lymphoblastoid active region 20235 [Gene]
  • LOC129937228:ATAC-STARR-seq lymphoblastoid active region 20236 [Gene]
  • LOC129937229:ATAC-STARR-seq lymphoblastoid active region 20237 [Gene]
  • LOC129937231:ATAC-STARR-seq lymphoblastoid active region 20238 [Gene]
  • LOC129937232:ATAC-STARR-seq lymphoblastoid active region 20239 [Gene]
  • LOC129937233:ATAC-STARR-seq lymphoblastoid active region 20240 [Gene]
  • LOC129937235:ATAC-STARR-seq lymphoblastoid active region 20241 [Gene]
  • LOC129937236:ATAC-STARR-seq lymphoblastoid active region 20242 [Gene]
  • LOC129937237:ATAC-STARR-seq lymphoblastoid active region 20243 [Gene]
  • LOC129937238:ATAC-STARR-seq lymphoblastoid active region 20244 [Gene]
  • LOC129937239:ATAC-STARR-seq lymphoblastoid active region 20245 [Gene]
  • LOC129937240:ATAC-STARR-seq lymphoblastoid active region 20247 [Gene]
  • LOC129937242:ATAC-STARR-seq lymphoblastoid active region 20248 [Gene]
  • LOC129937243:ATAC-STARR-seq lymphoblastoid active region 20249 [Gene]
  • LOC129937244:ATAC-STARR-seq lymphoblastoid active region 20250 [Gene]
  • LOC129937245:ATAC-STARR-seq lymphoblastoid active region 20251 [Gene]
  • LOC129937246:ATAC-STARR-seq lymphoblastoid active region 20252 [Gene]
  • LOC129937247:ATAC-STARR-seq lymphoblastoid active region 20253 [Gene]
  • LOC129937248:ATAC-STARR-seq lymphoblastoid active region 20254 [Gene]
  • LOC129937249:ATAC-STARR-seq lymphoblastoid active region 20255 [Gene]
  • LOC129937250:ATAC-STARR-seq lymphoblastoid active region 20256 [Gene]
  • LOC129937251:ATAC-STARR-seq lymphoblastoid active region 20257 [Gene]
  • LOC129937252:ATAC-STARR-seq lymphoblastoid active region 20258 [Gene]
  • LOC129937253:ATAC-STARR-seq lymphoblastoid active region 20259 [Gene]
  • LOC129937255:ATAC-STARR-seq lymphoblastoid active region 20260 [Gene]
  • LOC129937259:ATAC-STARR-seq lymphoblastoid active region 20263 [Gene]
  • LOC129937262:ATAC-STARR-seq lymphoblastoid active region 20264 [Gene]
  • LOC129937263:ATAC-STARR-seq lymphoblastoid active region 20265 [Gene]
  • LOC129937264:ATAC-STARR-seq lymphoblastoid active region 20266 [Gene]
  • LOC129937265:ATAC-STARR-seq lymphoblastoid active region 20267 [Gene]
  • LOC129937266:ATAC-STARR-seq lymphoblastoid active region 20268 [Gene]
  • LOC129937267:ATAC-STARR-seq lymphoblastoid active region 20270 [Gene]
  • LOC129937268:ATAC-STARR-seq lymphoblastoid active region 20271 [Gene]
  • LOC129937269:ATAC-STARR-seq lymphoblastoid active region 20272 [Gene]
  • LOC129937270:ATAC-STARR-seq lymphoblastoid active region 20273 [Gene]
  • LOC129937271:ATAC-STARR-seq lymphoblastoid active region 20274 [Gene]
  • LOC129937272:ATAC-STARR-seq lymphoblastoid active region 20275 [Gene]
  • LOC129937273:ATAC-STARR-seq lymphoblastoid active region 20276 [Gene]
  • LOC129937274:ATAC-STARR-seq lymphoblastoid active region 20277 [Gene]
  • LOC129937276:ATAC-STARR-seq lymphoblastoid active region 20278 [Gene]
  • LOC129937277:ATAC-STARR-seq lymphoblastoid active region 20279 [Gene]
  • LOC129937278:ATAC-STARR-seq lymphoblastoid active region 20280 [Gene]
  • LOC129937281:ATAC-STARR-seq lymphoblastoid active region 20281 [Gene]
  • LOC129937283:ATAC-STARR-seq lymphoblastoid active region 20282 [Gene]
  • LOC129937284:ATAC-STARR-seq lymphoblastoid active region 20283 [Gene]
  • LOC129937285:ATAC-STARR-seq lymphoblastoid active region 20284 [Gene]
  • LOC129937287:ATAC-STARR-seq lymphoblastoid active region 20285 [Gene]
  • LOC129937288:ATAC-STARR-seq lymphoblastoid active region 20286 [Gene]
  • LOC129937289:ATAC-STARR-seq lymphoblastoid active region 20287 [Gene]
  • LOC129937292:ATAC-STARR-seq lymphoblastoid active region 20288 [Gene]
  • LOC129937293:ATAC-STARR-seq lymphoblastoid active region 20289 [Gene]
  • LOC129937294:ATAC-STARR-seq lymphoblastoid active region 20290 [Gene]
  • LOC129937295:ATAC-STARR-seq lymphoblastoid active region 20291 [Gene]
  • LOC129937296:ATAC-STARR-seq lymphoblastoid active region 20292 [Gene]
  • LOC129937297:ATAC-STARR-seq lymphoblastoid active region 20293 [Gene]
  • LOC129937301:ATAC-STARR-seq lymphoblastoid active region 20294 [Gene]
  • LOC129937302:ATAC-STARR-seq lymphoblastoid active region 20295 [Gene]
  • LOC129937304:ATAC-STARR-seq lymphoblastoid active region 20296 [Gene]
  • LOC129937305:ATAC-STARR-seq lymphoblastoid active region 20297 [Gene]
  • LOC129937306:ATAC-STARR-seq lymphoblastoid active region 20298 [Gene]
  • LOC129937307:ATAC-STARR-seq lymphoblastoid active region 20299 [Gene]
  • LOC129937308:ATAC-STARR-seq lymphoblastoid active region 20301 [Gene]
  • LOC129937309:ATAC-STARR-seq lymphoblastoid active region 20302 [Gene]
  • LOC129937310:ATAC-STARR-seq lymphoblastoid active region 20304 [Gene]
  • LOC129937311:ATAC-STARR-seq lymphoblastoid active region 20305 [Gene]
  • LOC129937312:ATAC-STARR-seq lymphoblastoid active region 20306 [Gene]
  • LOC129937313:ATAC-STARR-seq lymphoblastoid active region 20307 [Gene]
  • LOC129937314:ATAC-STARR-seq lymphoblastoid active region 20308 [Gene]
  • LOC129937315:ATAC-STARR-seq lymphoblastoid active region 20309 [Gene]
  • LOC129937316:ATAC-STARR-seq lymphoblastoid active region 20310 [Gene]
  • LOC129937317:ATAC-STARR-seq lymphoblastoid active region 20311 [Gene]
  • LOC129937318:ATAC-STARR-seq lymphoblastoid active region 20312 [Gene]
  • LOC129937320:ATAC-STARR-seq lymphoblastoid active region 20314 [Gene]
  • LOC129937321:ATAC-STARR-seq lymphoblastoid active region 20316 [Gene]
  • LOC129937322:ATAC-STARR-seq lymphoblastoid active region 20317 [Gene]
  • LOC129937323:ATAC-STARR-seq lymphoblastoid active region 20318 [Gene]
  • LOC129937324:ATAC-STARR-seq lymphoblastoid active region 20319 [Gene]
  • LOC129937325:ATAC-STARR-seq lymphoblastoid active region 20320 [Gene]
  • LOC129937326:ATAC-STARR-seq lymphoblastoid active region 20321 [Gene]
  • LOC129937327:ATAC-STARR-seq lymphoblastoid active region 20322 [Gene]
  • LOC129937328:ATAC-STARR-seq lymphoblastoid active region 20324 [Gene]
  • LOC129937329:ATAC-STARR-seq lymphoblastoid active region 20325 [Gene]
  • LOC129937330:ATAC-STARR-seq lymphoblastoid active region 20327 [Gene]
  • LOC129937331:ATAC-STARR-seq lymphoblastoid active region 20328 [Gene]
  • LOC129937333:ATAC-STARR-seq lymphoblastoid active region 20330 [Gene]
  • LOC129937334:ATAC-STARR-seq lymphoblastoid active region 20331 [Gene]
  • LOC129937337:ATAC-STARR-seq lymphoblastoid active region 20332 [Gene]
  • LOC129937338:ATAC-STARR-seq lymphoblastoid active region 20333 [Gene]
  • LOC129937339:ATAC-STARR-seq lymphoblastoid active region 20334 [Gene]
  • LOC129937340:ATAC-STARR-seq lymphoblastoid active region 20335 [Gene]
  • LOC129937341:ATAC-STARR-seq lymphoblastoid active region 20339 [Gene]
  • LOC129937343:ATAC-STARR-seq lymphoblastoid active region 20340 [Gene]
  • LOC129937344:ATAC-STARR-seq lymphoblastoid active region 20342 [Gene]
  • LOC129937345:ATAC-STARR-seq lymphoblastoid active region 20343 [Gene]
  • LOC129937346:ATAC-STARR-seq lymphoblastoid active region 20344 [Gene]
  • LOC129937347:ATAC-STARR-seq lymphoblastoid active region 20345 [Gene]
  • LOC129937348:ATAC-STARR-seq lymphoblastoid active region 20346 [Gene]
  • LOC129937349:ATAC-STARR-seq lymphoblastoid active region 20347 [Gene]
  • LOC129937350:ATAC-STARR-seq lymphoblastoid active region 20348 [Gene]
  • LOC129937351:ATAC-STARR-seq lymphoblastoid active region 20349 [Gene]
  • LOC129937352:ATAC-STARR-seq lymphoblastoid active region 20350 [Gene]
  • LOC129937353:ATAC-STARR-seq lymphoblastoid active region 20351 [Gene]
  • LOC129937354:ATAC-STARR-seq lymphoblastoid active region 20352 [Gene]
  • LOC129937355:ATAC-STARR-seq lymphoblastoid active region 20353 [Gene]
  • LOC129937356:ATAC-STARR-seq lymphoblastoid active region 20354 [Gene]
  • LOC129937358:ATAC-STARR-seq lymphoblastoid active region 20355 [Gene]
  • LOC129937359:ATAC-STARR-seq lymphoblastoid active region 20356 [Gene]
  • LOC129937360:ATAC-STARR-seq lymphoblastoid active region 20357 [Gene]
  • LOC129937361:ATAC-STARR-seq lymphoblastoid active region 20358 [Gene]
  • LOC129937362:ATAC-STARR-seq lymphoblastoid active region 20359 [Gene]
  • LOC129937363:ATAC-STARR-seq lymphoblastoid active region 20360 [Gene]
  • LOC129937364:ATAC-STARR-seq lymphoblastoid active region 20361 [Gene]
  • LOC129937365:ATAC-STARR-seq lymphoblastoid active region 20362 [Gene]
  • LOC129937366:ATAC-STARR-seq lymphoblastoid active region 20363 [Gene]
  • LOC129937367:ATAC-STARR-seq lymphoblastoid active region 20364 [Gene]
  • LOC129937369:ATAC-STARR-seq lymphoblastoid active region 20365 [Gene]
  • LOC129937370:ATAC-STARR-seq lymphoblastoid active region 20366 [Gene]
  • LOC129937371:ATAC-STARR-seq lymphoblastoid active region 20368 [Gene]
  • LOC129937372:ATAC-STARR-seq lymphoblastoid active region 20369 [Gene]
  • LOC129937373:ATAC-STARR-seq lymphoblastoid active region 20373 [Gene]
  • LOC129937374:ATAC-STARR-seq lymphoblastoid active region 20374 [Gene]
  • LOC129937375:ATAC-STARR-seq lymphoblastoid active region 20375 [Gene]
  • LOC129937376:ATAC-STARR-seq lymphoblastoid active region 20376 [Gene]
  • LOC129937379:ATAC-STARR-seq lymphoblastoid active region 20377 [Gene]
  • LOC129937380:ATAC-STARR-seq lymphoblastoid active region 20378 [Gene]
  • LOC129937381:ATAC-STARR-seq lymphoblastoid active region 20379 [Gene]
  • LOC129937383:ATAC-STARR-seq lymphoblastoid active region 20380 [Gene]
  • LOC129937384:ATAC-STARR-seq lymphoblastoid active region 20382 [Gene]
  • LOC129937386:ATAC-STARR-seq lymphoblastoid active region 20384 [Gene]
  • LOC129937387:ATAC-STARR-seq lymphoblastoid active region 20385 [Gene]
  • LOC129937388:ATAC-STARR-seq lymphoblastoid active region 20386 [Gene]
  • LOC129937390:ATAC-STARR-seq lymphoblastoid active region 20387 [Gene]
  • LOC129937391:ATAC-STARR-seq lymphoblastoid active region 20389 [Gene]
  • LOC129937393:ATAC-STARR-seq lymphoblastoid active region 20390 [Gene]
  • LOC129937394:ATAC-STARR-seq lymphoblastoid active region 20391 [Gene]
  • LOC129937395:ATAC-STARR-seq lymphoblastoid active region 20392 [Gene]
  • LOC129937399:ATAC-STARR-seq lymphoblastoid active region 20393 [Gene]
  • LOC129937400:ATAC-STARR-seq lymphoblastoid active region 20394 [Gene]
  • LOC129937403:ATAC-STARR-seq lymphoblastoid active region 20395 [Gene]
  • LOC129937405:ATAC-STARR-seq lymphoblastoid active region 20396 [Gene]
  • LOC129937407:ATAC-STARR-seq lymphoblastoid active region 20397 [Gene]
  • LOC129937408:ATAC-STARR-seq lymphoblastoid active region 20398 [Gene]
  • LOC129937409:ATAC-STARR-seq lymphoblastoid active region 20399 [Gene]
  • LOC129937410:ATAC-STARR-seq lymphoblastoid active region 20400 [Gene]
  • LOC129937411:ATAC-STARR-seq lymphoblastoid active region 20401 [Gene]
  • LOC129937413:ATAC-STARR-seq lymphoblastoid active region 20403 [Gene]
  • LOC129937102:ATAC-STARR-seq lymphoblastoid silent region 14550 [Gene]
  • LOC129937103:ATAC-STARR-seq lymphoblastoid silent region 14551 [Gene]
  • LOC129937104:ATAC-STARR-seq lymphoblastoid silent region 14552 [Gene]
  • LOC129937106:ATAC-STARR-seq lymphoblastoid silent region 14553 [Gene]
  • LOC129937111:ATAC-STARR-seq lymphoblastoid silent region 14554 [Gene]
  • LOC129937113:ATAC-STARR-seq lymphoblastoid silent region 14555 [Gene]
  • LOC129937114:ATAC-STARR-seq lymphoblastoid silent region 14556 [Gene]
  • LOC129937116:ATAC-STARR-seq lymphoblastoid silent region 14557 [Gene]
  • LOC129937117:ATAC-STARR-seq lymphoblastoid silent region 14558 [Gene]
  • LOC129937120:ATAC-STARR-seq lymphoblastoid silent region 14559 [Gene]
  • LOC129937121:ATAC-STARR-seq lymphoblastoid silent region 14560 [Gene]
  • LOC129937125:ATAC-STARR-seq lymphoblastoid silent region 14561 [Gene]
  • LOC129937130:ATAC-STARR-seq lymphoblastoid silent region 14564 [Gene]
  • LOC129937131:ATAC-STARR-seq lymphoblastoid silent region 14565 [Gene]
  • LOC129937132:ATAC-STARR-seq lymphoblastoid silent region 14566 [Gene]
  • LOC129937134:ATAC-STARR-seq lymphoblastoid silent region 14567 [Gene]
  • LOC129937135:ATAC-STARR-seq lymphoblastoid silent region 14568 [Gene]
  • LOC129937137:ATAC-STARR-seq lymphoblastoid silent region 14569 [Gene]
  • LOC129937141:ATAC-STARR-seq lymphoblastoid silent region 14571 [Gene]
  • LOC129937145:ATAC-STARR-seq lymphoblastoid silent region 14572 [Gene]
  • LOC129937146:ATAC-STARR-seq lymphoblastoid silent region 14573 [Gene]
  • LOC129937147:ATAC-STARR-seq lymphoblastoid silent region 14574 [Gene]
  • LOC129937164:ATAC-STARR-seq lymphoblastoid silent region 14578 [Gene]
  • LOC129937177:ATAC-STARR-seq lymphoblastoid silent region 14580 [Gene]
  • LOC129937178:ATAC-STARR-seq lymphoblastoid silent region 14581 [Gene]
  • LOC129937180:ATAC-STARR-seq lymphoblastoid silent region 14582 [Gene]
  • LOC129937184:ATAC-STARR-seq lymphoblastoid silent region 14583 [Gene]
  • LOC129937187:ATAC-STARR-seq lymphoblastoid silent region 14584 [Gene]
  • LOC129937189:ATAC-STARR-seq lymphoblastoid silent region 14585 [Gene]
  • LOC129937190:ATAC-STARR-seq lymphoblastoid silent region 14586 [Gene]
  • LOC129937193:ATAC-STARR-seq lymphoblastoid silent region 14587 [Gene]
  • LOC129937194:ATAC-STARR-seq lymphoblastoid silent region 14588 [Gene]
  • LOC129937195:ATAC-STARR-seq lymphoblastoid silent region 14589 [Gene]
  • LOC129937196:ATAC-STARR-seq lymphoblastoid silent region 14590 [Gene]
  • LOC129937199:ATAC-STARR-seq lymphoblastoid silent region 14591 [Gene]
  • LOC129937200:ATAC-STARR-seq lymphoblastoid silent region 14592 [Gene]
  • LOC129937201:ATAC-STARR-seq lymphoblastoid silent region 14593 [Gene]
  • LOC129937202:ATAC-STARR-seq lymphoblastoid silent region 14594 [Gene]
  • LOC129937207:ATAC-STARR-seq lymphoblastoid silent region 14595 [Gene]
  • LOC129937210:ATAC-STARR-seq lymphoblastoid silent region 14596 [Gene]
  • LOC129937217:ATAC-STARR-seq lymphoblastoid silent region 14597 [Gene]
  • LOC129937230:ATAC-STARR-seq lymphoblastoid silent region 14603 [Gene]
  • LOC129937234:ATAC-STARR-seq lymphoblastoid silent region 14604 [Gene]
  • LOC129937241:ATAC-STARR-seq lymphoblastoid silent region 14605 [Gene]
  • LOC129937254:ATAC-STARR-seq lymphoblastoid silent region 14606 [Gene]
  • LOC129937256:ATAC-STARR-seq lymphoblastoid silent region 14607 [Gene]
  • LOC129937257:ATAC-STARR-seq lymphoblastoid silent region 14608 [Gene]
  • LOC129937258:ATAC-STARR-seq lymphoblastoid silent region 14609 [Gene]
  • LOC129937260:ATAC-STARR-seq lymphoblastoid silent region 14611 [Gene]
  • LOC129937261:ATAC-STARR-seq lymphoblastoid silent region 14613 [Gene]
  • LOC129937275:ATAC-STARR-seq lymphoblastoid silent region 14614 [Gene]
  • LOC129937279:ATAC-STARR-seq lymphoblastoid silent region 14615 [Gene]
  • LOC129937280:ATAC-STARR-seq lymphoblastoid silent region 14616 [Gene]
  • LOC129937282:ATAC-STARR-seq lymphoblastoid silent region 14617 [Gene]
  • LOC129937286:ATAC-STARR-seq lymphoblastoid silent region 14618 [Gene]
  • LOC129937290:ATAC-STARR-seq lymphoblastoid silent region 14622 [Gene]
  • LOC129937291:ATAC-STARR-seq lymphoblastoid silent region 14623 [Gene]
  • LOC129937298:ATAC-STARR-seq lymphoblastoid silent region 14624 [Gene]
  • LOC129937299:ATAC-STARR-seq lymphoblastoid silent region 14625 [Gene]
  • LOC129937300:ATAC-STARR-seq lymphoblastoid silent region 14626 [Gene]
  • LOC129937303:ATAC-STARR-seq lymphoblastoid silent region 14627 [Gene]
  • LOC129937319:ATAC-STARR-seq lymphoblastoid silent region 14631 [Gene]
  • LOC129937332:ATAC-STARR-seq lymphoblastoid silent region 14634 [Gene]
  • LOC129937335:ATAC-STARR-seq lymphoblastoid silent region 14635 [Gene]
  • LOC129937336:ATAC-STARR-seq lymphoblastoid silent region 14636 [Gene]
  • LOC129937342:ATAC-STARR-seq lymphoblastoid silent region 14637 [Gene]
  • LOC129937357:ATAC-STARR-seq lymphoblastoid silent region 14638 [Gene]
  • LOC129937368:ATAC-STARR-seq lymphoblastoid silent region 14639 [Gene]
  • LOC129937377:ATAC-STARR-seq lymphoblastoid silent region 14641 [Gene]
  • LOC129937378:ATAC-STARR-seq lymphoblastoid silent region 14642 [Gene]
  • LOC129937382:ATAC-STARR-seq lymphoblastoid silent region 14643 [Gene]
  • LOC129937385:ATAC-STARR-seq lymphoblastoid silent region 14644 [Gene]
  • LOC129937389:ATAC-STARR-seq lymphoblastoid silent region 14645 [Gene]
  • LOC129937392:ATAC-STARR-seq lymphoblastoid silent region 14646 [Gene]
  • LOC129937396:ATAC-STARR-seq lymphoblastoid silent region 14647 [Gene]
  • LOC129937397:ATAC-STARR-seq lymphoblastoid silent region 14648 [Gene]
  • LOC129937398:ATAC-STARR-seq lymphoblastoid silent region 14649 [Gene]
  • LOC129937401:ATAC-STARR-seq lymphoblastoid silent region 14650 [Gene]
  • LOC129937402:ATAC-STARR-seq lymphoblastoid silent region 14651 [Gene]
  • LOC129937404:ATAC-STARR-seq lymphoblastoid silent region 14652 [Gene]
  • LOC129937406:ATAC-STARR-seq lymphoblastoid silent region 14653 [Gene]
  • LOC129937412:ATAC-STARR-seq lymphoblastoid silent region 14654 [Gene]
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • BTLA:B and T lymphocyte associated [Gene - OMIM - HGNC]
  • B4GALT4-AS1:B4GALT4 antisense RNA 1 [Gene - HGNC]
  • BBX:BBX high mobility group box domain containing [Gene - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • LOC126806751:BRD4-independent group 4 enhancer GRCh37_chr3:101405139-101406338 [Gene]
  • LOC126806758:BRD4-independent group 4 enhancer GRCh37_chr3:106035440-106036639 [Gene]
  • LOC126806760:BRD4-independent group 4 enhancer GRCh37_chr3:107849902-107851101 [Gene]
  • LOC126806762:BRD4-independent group 4 enhancer GRCh37_chr3:108462949-108464148 [Gene]
  • LOC126806771:BRD4-independent group 4 enhancer GRCh37_chr3:111637713-111638912 [Gene]
  • LOC126806777:BRD4-independent group 4 enhancer GRCh37_chr3:115003756-115004955 [Gene]
  • LOC126806778:BRD4-independent group 4 enhancer GRCh37_chr3:116733888-116735087 [Gene]
  • LOC126806781:BRD4-independent group 4 enhancer GRCh37_chr3:119300593-119301792 [Gene]
  • LOC126806784:BRD4-independent group 4 enhancer GRCh37_chr3:119961559-119962758 [Gene]
  • LOC126806786:BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 [Gene]
  • LOC123038161:BRD4-independent group 4 enhancer GRCh37_chr3:121311583-121312782 [Gene]
  • LOC126806793:BRD4-independent group 4 enhancer GRCh37_chr3:123966684-123967883 [Gene]
  • LOC126806794:BRD4-independent group 4 enhancer GRCh37_chr3:124128425-124129624 [Gene]
  • CCDC54-AS1:CCDC54 antisense RNA 1 [Gene - HGNC]
  • CD200:CD200 molecule [Gene - OMIM - HGNC]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • CD200R1L-AS1:CD200R1L antisense RNA 1 [Gene - HGNC]
  • CD47:CD47 molecule [Gene - OMIM - HGNC]
  • CD80:CD80 molecule [Gene - OMIM - HGNC]
  • CD86:CD86 molecule [Gene - OMIM - HGNC]
  • CD96:CD96 molecule [Gene - OMIM - HGNC]
  • LOC126806755:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:104241405-104242604 [Gene]
  • LOC126806761:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:108095636-108096835 [Gene]
  • LOC126806764:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:109629050-109630249 [Gene]
  • LOC126806773:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:111820488-111821687 [Gene]
  • LOC126806780:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:117828563-117829762 [Gene]
  • LOC126806785:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:120085712-120086911 [Gene]
  • LOC126806789:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:122353940-122355139 [Gene]
  • LOC126806792:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 [Gene]
  • LOC126806796:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:124229048-124230247 [Gene]
  • LOC126806743:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:94656674-94657873 [Gene]
  • LOC126806746:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:98043469-98044668 [Gene]
  • LOC126806749:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:99377337-99378536 [Gene]
  • CFAP44-AS1:CFAP44 antisense RNA 1 [Gene - HGNC]
  • LOC115995515:CRISPRi-validated cis-regulatory element chr3.3097 [Gene]
  • LOC115995516:CRISPRi-validated cis-regulatory element chr3.3177 [Gene]
  • LOC115995517:CRISPRi-validated cis-regulatory element chr3.3352 [Gene]
  • CBLB:Cbl proto-oncogene B [Gene - OMIM - HGNC]
  • DZIP3:DAZ interacting zinc finger protein 3 [Gene - OMIM - HGNC]
  • POLQ:DNA polymerase theta [Gene - OMIM - HGNC]
  • DUBR:DPPA2 upstream binding RNA [Gene - OMIM - HGNC]
  • EAF2:ELL associated factor 2 [Gene - OMIM - HGNC]
  • EPHA6:EPH receptor A6 [Gene - OMIM - HGNC]
  • FBXO40:F-box protein 40 [Gene - OMIM - HGNC]
  • GPR156:G protein-coupled receptor 156 [Gene - OMIM - HGNC]
  • GPR15:G protein-coupled receptor 15 [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - OMIM - HGNC]
  • GSK3B-DT:GSK3B divergent transcript [Gene - HGNC]
  • GTPBP8:GTP binding protein 8 (putative) [Gene - HGNC]
  • HHLA2:HHLA2 member of B7 family [Gene - OMIM - HGNC]
  • LOC111365173:HNF4 motif-containing MPRA enhancer 1/2 [Gene]
  • HSPBAP1:HSPB1 associated protein 1 [Gene - OMIM - HGNC]
  • IGSF11-AS1:IGSF11 antisense RNA 1 [Gene - HGNC]
  • IQCB1:IQ motif containing B1 [Gene - OMIM - HGNC]
  • LRRC58-DT:LRRC58 divergent transcript [Gene - HGNC]
  • LSAMP-AS1:LSAMP antisense RNA 1 [Gene - HGNC]
  • LOC126806750:MED14-independent group 3 enhancer GRCh37_chr3:101203214-101204413 [Gene]
  • LOC126806753:MED14-independent group 3 enhancer GRCh37_chr3:101913549-101914748 [Gene]
  • LOC126806754:MED14-independent group 3 enhancer GRCh37_chr3:102017651-102018850 [Gene]
  • LOC126806756:MED14-independent group 3 enhancer GRCh37_chr3:105120863-105122062 [Gene]
  • LOC112848341:MED14-independent group 3 enhancer GRCh37_chr3:107085622-107086821 [Gene]
  • LOC126806767:MED14-independent group 3 enhancer GRCh37_chr3:110764172-110765371 [Gene]
  • LOC126806768:MED14-independent group 3 enhancer GRCh37_chr3:111227353-111228552 [Gene]
  • LOC126806774:MED14-independent group 3 enhancer GRCh37_chr3:112612841-112614040 [Gene]
  • LOC126806775:MED14-independent group 3 enhancer GRCh37_chr3:113993502-113994701 [Gene]
  • LOC126806779:MED14-independent group 3 enhancer GRCh37_chr3:117426868-117428067 [Gene]
  • LOC126806782:MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 [Gene]
  • LOC126806787:MED14-independent group 3 enhancer GRCh37_chr3:121449808-121451007 [Gene]
  • LOC126806788:MED14-independent group 3 enhancer GRCh37_chr3:122215008-122216207 [Gene]
  • LOC126806791:MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 [Gene]
  • LOC126806795:MED14-independent group 3 enhancer GRCh37_chr3:124209527-124210726 [Gene]
  • LOC126806745:MED14-independent group 3 enhancer GRCh37_chr3:96606342-96607541 [Gene]
  • MORC1:MORC family CW-type zinc finger 1 [Gene - OMIM - HGNC]
  • MORC1-AS1:MORC1 antisense RNA 1 [Gene - HGNC]
  • LOC129389105:MPRA-validated peak4749 silencer [Gene]
  • LOC129389106:MPRA-validated peak4754 silencer [Gene]
  • LOC129389107:MPRA-validated peak4758 silencer [Gene]
  • LOC129389108:MPRA-validated peak4759 silencer [Gene]
  • LOC129389109:MPRA-validated peak4760 silencer [Gene]
  • LOC129389110:MPRA-validated peak4761 silencer [Gene]
  • LOC129389111:MPRA-validated peak4766 silencer [Gene]
  • LOC129389112:MPRA-validated peak4767 silencer [Gene]
  • LOC129389113:MPRA-validated peak4776 silencer [Gene]
  • LOC129389114:MPRA-validated peak4778 silencer [Gene]
  • LOC129389115:MPRA-validated peak4780 silencer [Gene]
  • LOC129389116:MPRA-validated peak4781 silencer [Gene]
  • LOC129389117:MPRA-validated peak4782 silencer [Gene]
  • LOC129389118:MPRA-validated peak4789 silencer [Gene]
  • LOC129389119:MPRA-validated peak4794 silencer [Gene]
  • LOC129389120:MPRA-validated peak4795 silencer [Gene]
  • LOC129389121:MPRA-validated peak4796 silencer [Gene]
  • LOC129389122:MPRA-validated peak4798 silencer [Gene]
  • LOC129389123:MPRA-validated peak4799 silencer [Gene]
  • LOC129389124:MPRA-validated peak4801 silencer [Gene]
  • LOC129389125:MPRA-validated peak4802 silencer [Gene]
  • LOC129389126:MPRA-validated peak4803 silencer [Gene]
  • MYLK-AS1:MYLK antisense RNA 1 [Gene - HGNC]
  • MYLK-AS2:MYLK antisense RNA 2 [Gene - HGNC]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • NDUFB4:NADH:ubiquinone oxidoreductase subunit B4 [Gene - OMIM - HGNC]
  • NECTIN3-AS1:NECTIN3 antisense RNA 1 [Gene - HGNC]
  • NEPRO-AS1:NEPRO antisense RNA 1 [Gene - HGNC]
  • NFKBIZ:NFKB inhibitor zeta [Gene - OMIM - HGNC]
  • NSUN3:NOP2/Sun RNA methyltransferase 3 [Gene - OMIM - HGNC]
  • LOC132088857:Neanderthal introgressed variant-containing enhancer experimental_63759 [Gene]
  • LOC132090698:Neanderthal introgressed variant-containing enhancer experimental_63902 [Gene]
  • LOC132088858:Neanderthal introgressed variant-containing enhancer experimental_64126 [Gene]
  • LOC132088860:Neanderthal introgressed variant-containing enhancer experimental_64338 [Gene]
  • LOC132088861:Neanderthal introgressed variant-containing enhancer experimental_64395 [Gene]
  • LOC132088862:Neanderthal introgressed variant-containing enhancer experimental_64462 [Gene]
  • LOC126806752:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:101421445-101422644 [Gene]
  • LOC126806757:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:105438452-105439651 [Gene]
  • LOC126806759:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:106483746-106484945 [Gene]
  • LOC126806763:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:109525648-109526847 [Gene]
  • LOC126806765:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:109645382-109646581 [Gene]
  • LOC126806766:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:110683374-110684573 [Gene]
  • LOC126806769:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111328685-111329884 [Gene]
  • LOC126806770:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111453476-111454675 [Gene]
  • LOC126806772:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111720792-111721991 [Gene]
  • LOC126806776:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:114958135-114959334 [Gene]
  • LOC126806783:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:119863928-119865127 [Gene]
  • LOC126806790:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:122387501-122388700 [Gene]
  • LOC126806744:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:95928173-95929372 [Gene]
  • LOC126806747:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98164285-98165484 [Gene]
  • LOC126806748:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:98274627-98275826 [Gene]
  • PCNP:PEST proteolytic signal containing nuclear protein [Gene - OMIM - HGNC]
  • PLCXD2-AS1:PLCXD2 antisense RNA 1 [Gene - HGNC]
  • RABL3:RAB, member of RAS oncogene family like 3 [Gene - OMIM - HGNC]
  • RDUR:RIG-I dependent antiviral response regulator RNA [Gene - HGNC]
  • ARHGAP31:Rho GTPase activating protein 31 [Gene - OMIM - HGNC]
  • SEC22A:SEC22 homolog A, vesicle trafficking protein [Gene - OMIM - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • SIDT1-AS1:SIDT1 antisense RNA 1 [Gene - HGNC]
  • LOC127898559:SPICE1-CFAP44 [Gene]
  • ST3GAL6:ST3 beta-galactoside alpha-2,3-sialyltransferase 6 [Gene - OMIM - HGNC]
  • ST3GAL6-AS1:ST3GAL6 antisense RNA 1 [Gene - HGNC]
  • SENP7:SUMO specific peptidase 7 [Gene - OMIM - HGNC]
  • LOC123002325:Sharpr-MPRA regulatory region 10497 [Gene]
  • LOC112872294:Sharpr-MPRA regulatory region 10510 [Gene]
  • LOC123002322:Sharpr-MPRA regulatory region 1067 [Gene]
  • LOC123002329:Sharpr-MPRA regulatory region 10775 [Gene]
  • LOC123038164:Sharpr-MPRA regulatory region 1098 [Gene]
  • LOC121725152:Sharpr-MPRA regulatory region 11159 [Gene]
  • LOC121009683:Sharpr-MPRA regulatory region 1116 [Gene]
  • LOC123002330:Sharpr-MPRA regulatory region 1117 [Gene]
  • LOC123002323:Sharpr-MPRA regulatory region 11515 [Gene]
  • LOC112841610:Sharpr-MPRA regulatory region 11 [Gene]
  • LOC112848344:Sharpr-MPRA regulatory region 12076 [Gene]
  • LOC112848343:Sharpr-MPRA regulatory region 12929 [Gene]
  • LOC123038162:Sharpr-MPRA regulatory region 13157 [Gene]
  • LOC112935965:Sharpr-MPRA regulatory region 13337 [Gene]
  • LOC112872290:Sharpr-MPRA regulatory region 13833 [Gene]
  • LOC123002321:Sharpr-MPRA regulatory region 13899 [Gene]
  • LOC112935966:Sharpr-MPRA regulatory region 14327 [Gene]
  • LOC123002320:Sharpr-MPRA regulatory region 14979 [Gene]
  • LOC121725153:Sharpr-MPRA regulatory region 15271 [Gene]
  • LOC123002316:Sharpr-MPRA regulatory region 15587 [Gene]
  • LOC123002317:Sharpr-MPRA regulatory region 1863 [Gene]
  • LOC123002315:Sharpr-MPRA regulatory region 220 [Gene]
  • LOC112872292:Sharpr-MPRA regulatory region 30 [Gene]
  • LOC123002331:Sharpr-MPRA regulatory region 3247 [Gene]
  • LOC121725151:Sharpr-MPRA regulatory region 3286 [Gene]
  • LOC123038158:Sharpr-MPRA regulatory region 3599 [Gene]
  • LOC123002318:Sharpr-MPRA regulatory region 4023 [Gene]
  • LOC121725150:Sharpr-MPRA regulatory region 5379 [Gene]
  • LOC121725154:Sharpr-MPRA regulatory region 5497 [Gene]
  • LOC123002328:Sharpr-MPRA regulatory region 5857 [Gene]
  • LOC112872291:Sharpr-MPRA regulatory region 5916 [Gene]
  • LOC112872293:Sharpr-MPRA regulatory region 6303 [Gene]
  • LOC123038159:Sharpr-MPRA regulatory region 6621 [Gene]
  • LOC123038160:Sharpr-MPRA regulatory region 6912 [Gene]
  • LOC123002327:Sharpr-MPRA regulatory region 705 [Gene]
  • LOC123002319:Sharpr-MPRA regulatory region 7106 [Gene]
  • LOC123002326:Sharpr-MPRA regulatory region 7303 [Gene]
  • LOC112841611:Sharpr-MPRA regulatory region 7874 [Gene]
  • LOC123002314:Sharpr-MPRA regulatory region 866 [Gene]
  • LOC123038163:Sharpr-MPRA regulatory region 9008 [Gene]
  • LOC123002324:Sharpr-MPRA regulatory region 9057 [Gene]
  • LOC112935964:Sharpr-MPRA regulatory region 9245 [Gene]
  • LOC121009684:Sharpr-MPRA regulatory region 9344 [Gene]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • TRAT1:T cell receptor associated transmembrane adaptor 1 [Gene - OMIM - HGNC]
  • TBC1D23:TBC1 domain family member 23 [Gene - OMIM - HGNC]
  • TBILA:TGF-beta induced lncRNA [Gene - HGNC]
  • LOC110121113:VISTA enhancer hs1462 [Gene]
  • LOC110121116:VISTA enhancer hs1469 [Gene]
  • LOC110121175:VISTA enhancer hs1648 [Gene]
  • LOC110121187:VISTA enhancer hs1685 [Gene]
  • LOC110120631:VISTA enhancer hs253 [Gene]
  • WDR5B:WD repeat domain 5B [Gene - HGNC]
  • WDR5B-DT:WDR5B divergent transcript [Gene - HGNC]
  • ZBTB11-AS1:ZBTB11 antisense RNA 1 [Gene - HGNC]
  • ZBTB20-AS1:ZBTB20 antisense RNA 1 [Gene - HGNC]
  • ZBTB20-AS3:ZBTB20 antisense RNA 3 [Gene - HGNC]
  • ZBTB20-AS4:ZBTB20 antisense RNA 4 [Gene - HGNC]
  • ZBTB20-AS5:ZBTB20 antisense RNA 5 [Gene - HGNC]
  • LOC111255649:ZNF80-LTR promoter [Gene]
  • ABHD10:abhydrolase domain containing 10, depalmitoylase [Gene - OMIM - HGNC]
  • ALCAM:activated leukocyte cell adhesion molecule [Gene - OMIM - HGNC]
  • ADCY5:adenylate cyclase 5 [Gene - OMIM - HGNC]
  • ADGRG7:adhesion G protein-coupled receptor G7 [Gene - OMIM - HGNC]
  • ARGFX:arginine-fifty homeobox [Gene - OMIM - HGNC]
  • ATG3:autophagy related 3 [Gene - OMIM - HGNC]
  • B4GALT4:beta-1,4-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • CASR:calcium sensing receptor [Gene - OMIM - HGNC]
  • CIP2A:cellular inhibitor of PP2A [Gene - OMIM - HGNC]
  • CEP97:centrosomal protein 97 [Gene - OMIM - HGNC]
  • C3orf52:chromosome 3 open reading frame 52 [Gene - OMIM - HGNC]
  • C3orf85:chromosome 3 open reading frame 85 [Gene - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CFAP91:cilia and flagella associated protein 91 [Gene - OMIM - HGNC]
  • CLDND1:claudin domain containing 1 [Gene - OMIM - HGNC]
  • CMSS1:cms1 ribosomal small subunit homolog [Gene - HGNC]
  • CCDC14:coiled-coil domain containing 14 [Gene - OMIM - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC54:coiled-coil domain containing 54 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • COL8A1:collagen type VIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPOX:coproporphyrinogen oxidase [Gene - OMIM - HGNC]
  • CRYBG3:crystallin beta-gamma domain containing 3 [Gene - OMIM - HGNC]
  • CSTA:cystatin A [Gene - OMIM - HGNC]
  • COX17:cytochrome c oxidase copper chaperone COX17 [Gene - OMIM - HGNC]
  • DTX3L:deltex E3 ubiquitin ligase 3L [Gene - OMIM - HGNC]
  • DPPA2:developmental pluripotency associated 2 [Gene - OMIM - HGNC]
  • DPPA4:developmental pluripotency associated 4 [Gene - OMIM - HGNC]
  • DHFR2:dihydrofolate reductase 2 [Gene - OMIM - HGNC]
  • DCBLD2:discoidin, CUB and LCCL domain containing 2 [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • FAM162A:family with sequence similarity 162 member A [Gene - OMIM - HGNC]
  • FILIP1L:filamin A interacting protein 1 like [Gene - OMIM - HGNC]
  • FSTL1:follistatin like 1 [Gene - OMIM - HGNC]
  • GABRR3:gamma-aminobutyric acid type A receptor subunit rho3 [Gene - OMIM - HGNC]
  • GTF2E1:general transcription factor IIE subunit 1 [Gene - OMIM - HGNC]
  • GCSAM:germinal center associated signaling and motility [Gene - OMIM - HGNC]
  • GSK3B:glycogen synthase kinase 3 beta [Gene - OMIM - HGNC]
  • GOLGB1:golgin B1 [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • GUCA1C:guanylate cyclase activator 1C [Gene - OMIM - HGNC]
  • HCLS1:hematopoietic cell-specific Lyn substrate 1 [Gene - OMIM - HGNC]
  • HGD:homogentisate 1,2-dioxygenase [Gene - OMIM - HGNC]
  • ILDR1:immunoglobulin like domain containing receptor 1 [Gene - OMIM - HGNC]
  • IGSF11:immunoglobulin superfamily member 11 [Gene - OMIM - HGNC]
  • ITGB5:integrin subunit beta 5 [Gene - OMIM - HGNC]
  • IMPG2:interphotoreceptor matrix proteoglycan 2 [Gene - OMIM - HGNC]
  • IFT57:intraflagellar transport 57 [Gene - OMIM - HGNC]
  • KALRN:kalirin RhoGEF kinase [Gene - OMIM - HGNC]
  • KPNA1:karyopherin subunit alpha 1 [Gene - OMIM - HGNC]
  • LRRC58:leucine rich repeat containing 58 [Gene - HGNC]
  • LNP1:leukemia NUP98 fusion partner 1 [Gene - HGNC]
  • LSAMP:limbic system associated membrane protein [Gene - OMIM - HGNC]
  • LINC01205:long intergenic non-protein coding RNA 1205 [Gene - HGNC]
  • LINC01215:long intergenic non-protein coding RNA 1215 [Gene - HGNC]
  • LINC01990:long intergenic non-protein coding RNA 1990 [Gene - HGNC]
  • LINC02024:long intergenic non-protein coding RNA 2024 [Gene - HGNC]
  • LINC02035:long intergenic non-protein coding RNA 2035 [Gene - HGNC]
  • LINC02042:long intergenic non-protein coding RNA 2042 [Gene - HGNC]
  • LINC02044:long intergenic non-protein coding RNA 2044 [Gene - HGNC]
  • LINC02049:long intergenic non-protein coding RNA 2049 [Gene - HGNC]
  • LINC03051:long intergenic non-protein coding RNA 3051 [Gene - HGNC]
  • LINC00488:long intergenic non-protein coding RNA 488 [Gene - HGNC]
  • LINC00635:long intergenic non-protein coding RNA 635 [Gene - HGNC]
  • LINC00636:long intergenic non-protein coding RNA 636 [Gene - HGNC]
  • LINC00879:long intergenic non-protein coding RNA 879 [Gene - HGNC]
  • LINC00882:long intergenic non-protein coding RNA 882 [Gene - HGNC]
  • LINC00901:long intergenic non-protein coding RNA 901 [Gene - HGNC]
  • LINC00903:long intergenic non-protein coding RNA 903 [Gene - HGNC]
  • LINC00973:long intergenic non-protein coding RNA 973 [Gene - HGNC]
  • MIR198:microRNA 198 [Gene - HGNC]
  • MIR3921:microRNA 3921 [Gene - HGNC]
  • MIR4445:microRNA 4445 [Gene - HGNC]
  • MIR4446:microRNA 4446 [Gene - HGNC]
  • MIR4447:microRNA 4447 [Gene - HGNC]
  • MIR4796:microRNA 4796 [Gene - HGNC]
  • MIR5002:microRNA 5002 [Gene - HGNC]
  • MIR544B:microRNA 544b [Gene - HGNC]
  • MIR548AB:microRNA 548ab [Gene - HGNC]
  • MIR567:microRNA 567 [Gene - HGNC]
  • MIR5682:microRNA 5682 [Gene - HGNC]
  • MIR568:microRNA 568 [Gene - HGNC]
  • MIR6083:microRNA 6083 [Gene - HGNC]
  • MIR6529:microRNA 6529 [Gene - HGNC]
  • MIR7110:microRNA 7110 [Gene - HGNC]
  • MIR8060:microRNA 8060 [Gene - HGNC]
  • MIR8076:microRNA 8076 [Gene - HGNC]
  • MIR9900:microRNA 9900 [Gene - HGNC]
  • MIX23:mitochondrial matrix import factor 23 [Gene - OMIM - HGNC]
  • MYH15:myosin heavy chain 15 [Gene - OMIM - HGNC]
  • MYLK:myosin light chain kinase [Gene - OMIM - HGNC]
  • NECTIN3:nectin cell adhesion molecule 3 [Gene - OMIM - HGNC]
  • NXPE3:neurexophilin and PC-esterase domain family member 3 [Gene - HGNC]
  • NIT2:nitrilase family member 2 [Gene - OMIM - HGNC]
  • NR1I2:nuclear receptor subfamily 1 group I member 2 [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • OR5AC2:olfactory receptor family 5 subfamily AC member 2 [Gene - HGNC]
  • OR5H14:olfactory receptor family 5 subfamily H member 14 [Gene - HGNC]
  • OR5H15:olfactory receptor family 5 subfamily H member 15 [Gene - HGNC]
  • OR5H1:olfactory receptor family 5 subfamily H member 1 [Gene - HGNC]
  • OR5H2:olfactory receptor family 5 subfamily H member 2 [Gene - HGNC]
  • OR5H6:olfactory receptor family 5 subfamily H member 6 [Gene - HGNC]
  • OR5K1:olfactory receptor family 5 subfamily K member 1 [Gene - HGNC]
  • OR5K2:olfactory receptor family 5 subfamily K member 2 [Gene - HGNC]
  • OR5K3:olfactory receptor family 5 subfamily K member 3 [Gene - HGNC]
  • OR5K4:olfactory receptor family 5 subfamily K member 4 [Gene - HGNC]
  • PLCXD2:phosphatidylinositol specific phospholipase C X domain containing 2 [Gene - OMIM - HGNC]
  • PLA1A:phospholipase A1 member A [Gene - OMIM - HGNC]
  • PHLDB2:pleckstrin homology like domain family B member 2 [Gene - OMIM - HGNC]
  • PARP14:poly(ADP-ribose) polymerase family member 14 [Gene - OMIM - HGNC]
  • PARP15:poly(ADP-ribose) polymerase family member 15 [Gene - OMIM - HGNC]
  • PARP9:poly(ADP-ribose) polymerase family member 9 [Gene - OMIM - HGNC]
  • POPDC2:popeye domain containing 2 [Gene - OMIM - HGNC]
  • POGLUT1:protein O-glucosyltransferase 1 [Gene - OMIM - HGNC]
  • PDIA5:protein disulfide isomerase family A member 5 [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • RETNLB:resistin like beta [Gene - OMIM - HGNC]
  • ROPN1:rhophilin associated tail protein 1 [Gene - OMIM - HGNC]
  • RIOX2:ribosomal oxygenase 2 [Gene - OMIM - HGNC]
  • RPL24:ribosomal protein L24 [Gene - OMIM - HGNC]
  • SEMA5B:semaphorin 5B [Gene - OMIM - HGNC]
  • SNORD155:small nucleolar RNA, C/D box 155 [Gene - HGNC]
  • SLC15A2:solute carrier family 15 member 2 [Gene - OMIM - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - OMIM - HGNC]
  • SLC49A4:solute carrier family 49 member 4 [Gene - OMIM - HGNC]
  • SLC9C1:solute carrier family 9 member C1 [Gene - OMIM - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • STX19:syntaxin 19 [Gene - HGNC]
  • STXBP5L:syntaxin binding protein 5L [Gene - OMIM - HGNC]
  • TRMT10C:tRNA methyltransferase 10C, mitochondrial RNase P subunit [Gene - OMIM - HGNC]
  • TEX55:testis expressed 55 [Gene - HGNC]
  • TFG:trafficking from ER to golgi regulator [Gene - OMIM - HGNC]
  • TAGLN3:transgelin 3 [Gene - OMIM - HGNC]
  • TIMMDC1:translocase of inner mitochondrial membrane domain containing 1 [Gene - OMIM - HGNC]
  • TOMM70:translocase of outer mitochondrial membrane 70 [Gene - OMIM - HGNC]
  • TMEM39A:transmembrane protein 39A [Gene - HGNC]
  • TMEM45A:transmembrane protein 45A [Gene - OMIM - HGNC]
  • TMPRSS7:transmembrane serine protease 7 [Gene - HGNC]
  • TUSC7:tumor suppressor candidate 7 [Gene - OMIM - HGNC]
  • LOC101926953:uncharacterized LOC101926953 [Gene]
  • LOC101926968:uncharacterized LOC101926968 [Gene]
  • HP09053:uncharacterized LOC101929357 [Gene]
  • LOC101929411:uncharacterized LOC101929411 [Gene]
  • LOC105374002:uncharacterized LOC105374002 [Gene]
  • LOC105374010:uncharacterized LOC105374010 [Gene]
  • LOC105374042:uncharacterized LOC105374042 [Gene]
  • LOC105374060:uncharacterized LOC105374060 [Gene]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • UMPS:uridine monophosphate synthetase [Gene - OMIM - HGNC]
  • UPK1B:uroplakin 1B [Gene - OMIM - HGNC]
  • ZBED2:zinc finger BED-type containing 2 [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB11:zinc finger and BTB domain containing 11 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
  • ZPLD1:zona pellucida like domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
3q11.1-21.2
Genomic location:
Chr3: 93979547 - 124774010 (on Assembly GRCh38)
Preferred name:
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1
HGVS:

    Condition(s)

    Name:
    Chromosome 3q13.31 deletion syndrome
    Identifiers:
    MONDO: MONDO:0014185; MedGen: C3809490; OMIM: 615433

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004034266Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Aug 24, 2023)     		de novoresearch

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyesnot providednot providednot providednot providednot providedresearch

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, SCV004034266.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedresearch PubMed (1)

    Description

    A confirmed de novo heterozygous deletion of 3p25.2-q11.1 encompassing 133 genes (https://genescout.omim.org/) was identified by exome sequencing in one individual with agenesis of corpus callosum and global developmental delay ([GRCh38] chr3:93979547_124774010x1). These breakpoints have been estimated by exome sequencing only and therefore may not reflect the true breakpoints. The patient phenotype is nonspecific, but is consistent with cases described in the literature and/or published databases with overlapping variants. More than two HI predictors suggest that at least 5 genes (KARLN, ARHGAP31, NFKBIZ, ZBTB20, ADCY5) included in this deletion are haploinsufficient (https://www.deciphergenomics.org/). In summary, the 3p25.2-q11.1 deletion meets criteria to be classified as pathogenic. The ACMG/ClinGen evidence codes and points used in this curation are as follows: 1: 0 points, 2: 0.15 points, 3: 0.90 points, 4-5: 0.15 points; Total: 1.20 points; Riggs 2020 (PMID: 31690835).

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 30, 2024