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C7orf78 chromosome 7 open reading frame 78 [ Homo sapiens (human) ]

Gene ID: 102725191, updated on 10-Mar-2024

Summary

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Official Symbol
C7orf78provided by HGNC
Official Full Name
chromosome 7 open reading frame 78provided by HGNC
Primary source
HGNC:HGNC:55185
See related
Ensembl:ENSG00000226690
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
Expression
Low expression observed in reference dataset See more
Orthologs
all
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Genomic context

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See C7orf78 in Genome Data Viewer
Location:
7p21.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (12483344..12542188)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (12614225..12673220)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (12522970..12581814)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375155 Neighboring gene CTAGE family member 5, ER export factor Neighboring gene uncharacterized LOC105375156 Neighboring gene small RNA binding exonuclease protection factor La like 5, pseudogene Neighboring gene Sharpr-MPRA regulatory region 5173 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:12536548-12537176 Neighboring gene taste 2 receptor member 2, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25664 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12596820-12598019 Neighboring gene uncharacterized LOC107986768 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25665 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:12635263-12636462 Neighboring gene scinderin Neighboring gene Sharpr-MPRA regulatory region 10361 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:12700000-12700549 Neighboring gene uncharacterized LOC105375157 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:12714709-12715908

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. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. Brandenberger R, et al. Nat Biotechnol, 2004 Jun. PMID 15146197
  2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, 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)

Genotypes

General gene information

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Homology

Clone Names

  • AC005281.1

General protein information

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Preferred Names
uncharacterized protein LOC102725191

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_001386512.1 → NP_001373441.1  uncharacterized protein LOC102725191 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC005281, AC013470, AC092064
    Consensus CDS
    CCDS94056.1
    UniProtKB/TrEMBL
    A0A1B0GW04
    Related
    ENSP00000490721.1, ENST00000635746.1
    Conserved Domains (1) summary
    cl10011
    Location:47 → 164
    Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

  2. NM_001386513.1 → NP_001373442.1  uncharacterized protein LOC102725191 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005281, AC013470, AC092064

  3. NM_001386514.1 → NP_001373443.1  uncharacterized protein LOC102725191 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005281, AC013470, AC092064
    Consensus CDS
    CCDS94055.1
    UniProtKB/TrEMBL
    A0A1B0GVB3
    Related
    ENSP00000490444.1, ENST00000636804.2
    Conserved Domains (1) summary
    cl10011
    Location:99 → 216
    Periplasmic_Binding_Protein_type1; Type 1 periplasmic binding fold superfamily

RNA

  1. NR_136261.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    CR745650, DB235670, DB451166
    Related
    ENST00000418428.6

  2. NR_136262.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    CN401267, DB235670

  3. NR_136263.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC013470, AC092064, DB235670
    Related
    ENST00000424453.1

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_000007.14 Reference GRCh38.p14 Primary Assembly

    Range
    12483344..12542188
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419720.1 → XP_047275676.1  uncharacterized protein LOC102725191 isoform X1

  2. XM_047419721.1 → XP_047275677.1  uncharacterized protein LOC102725191 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060931.1 Alternate T2T-CHM13v2.0

    Range
    12614225..12673220
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356998.1 → XP_054212973.1  uncharacterized protein LOC102725191 isoform X1

  2. XM_054356999.1 → XP_054212974.1  uncharacterized protein LOC102725191 isoform X2

  3. XM_054357000.1 → XP_054212975.1  uncharacterized protein LOC102725191 isoform X3

Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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