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

    Gene ID: 100526694, updated on 2-Nov-2024

    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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    See MSANTD3-TMEFF1 in Genome Data Viewer
    Location:
    9q31.1
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (100441906..100577636)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (112613574..112749338)
    RS_2024_09 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 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_2024_08

    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

    Gene LinkOut

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