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FAM230A family with sequence similarity 230 member A [ Homo sapiens (human) ]

Gene ID: 653203, updated on 10-Oct-2023

Summary

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Official Symbol
FAM230Aprovided by HGNC
Official Full Name
family with sequence similarity 230 member Aprovided by HGNC
Primary source
HGNC:HGNC:45045
See related
Ensembl:ENSG00000277870 AllianceGenome:HGNC:45045
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DGCR15
Expression
Restricted expression toward testis (RPKM 10.8) See more
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Genomic context

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Location:
22q11.21
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (18421384..18500594)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (20326420..20350461)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene protein phosphatase 1 regulatory subunit 26 pseudogene 3 Neighboring gene uncharacterized LOC107987325 Neighboring gene family with sequence similarity 247 member B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:20361787-20362627 Neighboring gene gamma-glutamyltransferase light chain family member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Formation of a Family of Long Intergenic Noncoding RNA Genes with an Embedded Translocation Breakpoint Motif in Human Chromosomal Low Copy Repeats of 22q11.2-Some Surprises and Questions. Delihas N. Noncoding RNA, 2018 Jul 20. PMID 30036931, Free PMC Article
  2. A family of long intergenic non-coding RNA genes in human chromosomal region 22q11.2 carry a DNA translocation breakpoint/AT-rich sequence. Delihas N. PLoS One, 2018. PMID 29668722, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Clone Names

  • FLJ58650

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_136560.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC011718, AC023490
    Related
    ENST00000624459.2

  2. NR_165629.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC011718, AC023490

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    18421384..18500594
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_029132.1: Suppressed sequence

    Description
    NG_029132.1: This RefSeq was permanently suppressed because it is now thought that this gene does encode a protein.
Nucleotide Protein
Heading Accession and Version

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