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C5orf67 chromosome 5 putative open reading frame 67 [ Homo sapiens (human) ]

Gene ID: 101928448, updated on 17-Sep-2024

Summary

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Official Symbol
C5orf67provided by HGNC
Official Full Name
chromosome 5 putative open reading frame 67provided by HGNC
Primary source
HGNC:HGNC:51252
See related
AllianceGenome:HGNC:51252
Gene type
ncRNA
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 C5orf67 in Genome Data Viewer
Location:
5q11.2
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (56511282..56606256, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (57339221..57434172, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (55807109..55902083, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22565 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:55810478-55810978 Neighboring gene ribosomal protein L26 pseudogene 19 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:55830028-55830580 Neighboring gene MPRA-validated peak5248 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22568 Neighboring gene VISTA enhancer hs1638 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:55933112-55933681 Neighboring gene Sharpr-MPRA regulatory region 489 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:56052539-56053040 Neighboring gene growth/differentiation factor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16021 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16022 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:56112185-56113008 Neighboring gene Sharpr-MPRA regulatory region 15646 Neighboring gene NANOG hESC enhancer GRCh37_chr5:56121191-56121701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_86205 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56139908-56140150 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:56146868-56147047 Neighboring gene mitogen-activated protein kinase kinase kinase 1 Neighboring gene uncharacterized LOC124901214

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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GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association of body fat distribution in African ancestry populations suggests new loci.
EBI GWAS Catalog
Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits.
EBI GWAS Catalog
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Homology

Other Names

  • Uncharacterized protein C5orf67

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_161255.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC022431

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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    56511282..56606256 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    57339221..57434172 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001287053.1: Suppressed sequence

    Description
    NM_001287053.1: This RefSeq was removed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
F2Z3F1.1 GenPept UniProtKB/Swiss-Prot:F2Z3F1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Molecular Biology Databases
Research Materials