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C4orf51 chromosome 4 open reading frame 51 [ Homo sapiens (human) ]

Gene ID: 646603, updated on 5-Mar-2024

Summary

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Official Symbol
C4orf51provided by HGNC
Official Full Name
chromosome 4 open reading frame 51provided by HGNC
Primary source
HGNC:HGNC:37264
See related
Ensembl:ENSG00000237136 AllianceGenome:HGNC:37264
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
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Genomic context

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Location:
4q31.21
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (145680146..145792443)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (148995961..149108468)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (146601298..146653949)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15731 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15732 Neighboring gene long intergenic non-protein coding RNA 2491 Neighboring gene nuclear receptor coactivator 4 pseudogene 3 Neighboring gene metabolism of cobalamin associated A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr4:146608063-146608617 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:146619735-146620662 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146620663-146621589 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146624094-146624783 Neighboring gene NANOG hESC enhancer GRCh37_chr4:146625046-146625631 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21965 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15733 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655149-146655948 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146655949-146656746 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146683575-146684076 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146684077-146684576 Neighboring gene zinc finger protein 827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21967 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146729136-146730335 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21969 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146746417-146746985 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146753533-146754304 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146756877-146757401 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146757402-146757925 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:146758974-146759498 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:146759499-146760022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:146799791-146800383 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21970 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15734 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21971 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:146853271-146853772 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15736 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15737 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21972 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146875811-146877010 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21974 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:146975373-146976572 Neighboring gene uncharacterized LOC105377468 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21976 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21977 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21978 Neighboring gene uncharacterized LOC105377469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21979 Neighboring gene long intergenic non-protein coding RNA 1095

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. An interstitial 4q31.21q31.22 microdeletion associated with developmental delay: case report and literature review. Vlaikou AM, et al. Cytogenet Genome Res, 2014. PMID 24733116

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

General protein information

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Preferred Names
uncharacterized protein C4orf51

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_001080531.3 → NP_001074000.1  uncharacterized protein C4orf51

    See identical proteins and their annotated locations for NP_001074000.1

    Status: VALIDATED

    Source sequence(s)
    AC093864, AC107212
    Consensus CDS
    CCDS47140.1
    UniProtKB/Swiss-Prot
    C9J302
    Related
    ENSP00000391404.1, ENST00000438731.7
    Conserved Domains (1) summary
    pfam15849
    Location:1 → 168
    DUF4722; Domain of unknown function (DUF4722)

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_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    145680146..145792443
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047416079.1 → XP_047272035.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  2. XM_047416083.1 → XP_047272039.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  3. XM_047416086.1 → XP_047272042.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  4. XM_047416082.1 → XP_047272038.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  5. XM_047416078.1 → XP_047272034.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  6. XM_047416084.1 → XP_047272040.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  7. XM_047416085.1 → XP_047272041.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  8. XM_047416087.1 → XP_047272043.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  9. XM_047416080.1 → XP_047272036.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  10. XM_047416081.1 → XP_047272037.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  11. XM_024454189.2 → XP_024309957.1  uncharacterized protein C4orf51 isoform X3

    Conserved Domains (1) summary
    pfam15849
    Location:1 → 103
    DUF4722; Domain of unknown function (DUF4722)

  12. XM_024454188.2 → XP_024309956.1  uncharacterized protein C4orf51 isoform X2

    Conserved Domains (1) summary
    pfam15849
    Location:1 → 102
    DUF4722; Domain of unknown function (DUF4722)

  13. XM_024454190.2 → XP_024309958.1  uncharacterized protein C4orf51 isoform X4

    Conserved Domains (1) summary
    pfam15849
    Location:1 → 104
    DUF4722; Domain of unknown function (DUF4722)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    148995961..149108468
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054350724.1 → XP_054206699.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  2. XM_054350723.1 → XP_054206698.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  3. XM_054350727.1 → XP_054206702.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  4. XM_054350722.1 → XP_054206697.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  5. XM_054350719.1 → XP_054206694.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  6. XM_054350725.1 → XP_054206700.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  7. XM_054350726.1 → XP_054206701.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  8. XM_054350728.1 → XP_054206703.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  9. XM_054350720.1 → XP_054206695.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  10. XM_054350721.1 → XP_054206696.1  uncharacterized protein C4orf51 isoform X1

    UniProtKB/Swiss-Prot
    C9J302

  11. XM_054350730.1 → XP_054206705.1  uncharacterized protein C4orf51 isoform X3

  12. XM_054350729.1 → XP_054206704.1  uncharacterized protein C4orf51 isoform X2

  13. XM_054350731.1 → XP_054206706.1  uncharacterized protein C4orf51 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
C9J302.1 GenPept UniProtKB/Swiss-Prot:C9J302

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