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MSANTD3-TMEFF1 MSANTD3-TMEFF1 readthrough [ Homo sapiens (human) ]

Gene ID: 100526694, updated on 10-Oct-2023

Summary

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Official Symbol
MSANTD3-TMEFF1provided by HGNC
Official Full Name
MSANTD3-TMEFF1 readthroughprovided by HGNC
Primary source
HGNC:HGNC:38838
See related
AllianceGenome:HGNC:38838
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TR-1; H7365; C9orf2; TMEFF1; C9orf3-TMEFF1; C9orf30-TMEFF1
Summary
This locus represents naturally occurring read-through transcription from the neighboring MSANTD3 (Myb/SANT-like DNA-binding domain containing 3) and TMEFF1 (transmembrane protein with EGF-like and two follistatin-like domains 1) genes. The read-through transcript encodes a fusion protein that shares sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2013]
Expression
Broad expression in brain (RPKM 22.5), endometrium (RPKM 5.6) and 19 other tissues See more
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Genomic context

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Location:
9q31.1
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100441906..100577636)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112613574..112749338)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (103204188..103339918)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene inversin Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103103415-103103914 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28723 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103114917-103115551 Neighboring gene uncharacterized LOC105376177 Neighboring gene testis expressed 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103131616-103131808 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103155294-103155664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20134 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20136 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20137 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20135 Neighboring gene Sharpr-MPRA regulatory region 7300 Neighboring gene Myb/SANT DNA binding domain containing 3 Neighboring gene uncharacterized LOC124902237 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20139 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20140 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103254247-103254747 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103276664-103277164 Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:103277165-103277665 Neighboring gene transmembrane protein with EGF like and two follistatin like domains 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:103289773-103290326 Neighboring gene Sharpr-MPRA regulatory region 4026 Neighboring gene RN7SK pseudogene 87 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103381338-103381838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103381839-103382339 Neighboring gene caveolae associated protein 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:103395478-103395729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103452866-103453366 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:103453367-103453867 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:103493207-103493714 Neighboring gene actin gamma 1 pseudogene 19

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. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. Prakash T, et al. PLoS One, 2010 Oct 12. PMID 20967262, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

Homology

Clone Names

  • DKFZp761G1118

General protein information

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Preferred Names
MSANTD3-TMEFF1 fusion protein
Names
C9orf30-TMEFF1 readthrough
Tomoregulin-1
Transmembrane protein with EGF-like and one follistatin-like domain

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.

mRNA and Protein(s)

  1. NM_001198812.1 → NP_001185741.1  MSANTD3-TMEFF1 fusion protein

    Status: VALIDATED

    Source sequence(s)
    AL353805, AL831919
    UniProtKB/Swiss-Prot
    Q8IYR6
    Conserved Domains (3) summary
    PHA02887
    Location:349 → 385
    PHA02887; EGF-like protein; Provisional
    smart00280
    Location:173 → 217
    KAZAL; Kazal type serine protease inhibitors
    pfam13873
    Location:9 → 83
    Myb_DNA-bind_5; Myb/SANT-like DNA-binding domain

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_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    100441906..100577636
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    112613574..112749338
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

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