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C1orf220 chromosome 1 putative open reading frame 220 [ Homo sapiens (human) ]

Gene ID: 400798, updated on 17-Sep-2024

Summary

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Official Symbol
C1orf220provided by HGNC
Official Full Name
chromosome 1 putative open reading frame 220provided by HGNC
Primary source
HGNC:HGNC:33805
See related
Ensembl:ENSG00000213057 AllianceGenome:HGNC:33805
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
Broad expression in lymph node (RPKM 1.7), spleen (RPKM 1.5) and 21 other tissues See more
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Genomic context

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See C1orf220 in Genome Data Viewer
Location:
1q25.2
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178542796..178548889)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (177897519..177903612)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178511931..178518024)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371631 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:178505524-178506723 Neighboring gene uncharacterized LOC124904460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2142 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1578 Neighboring gene uncharacterized LOC105371632 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2143 Neighboring gene RNA, 5S ribosomal pseudogene 69 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2144 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2147 Neighboring gene Sharpr-MPRA regulatory region 1317 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:178621695-178622894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2148 Neighboring gene microRNA 4424

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. Discovery and refinement of loci associated with lipid levels. Willer CJ, et al. Nat Genet, 2013 Nov. PMID 24097068, Free PMC Article
  2. The BioPlex Network: A Systematic Exploration of the Human Interactome. Huttlin EL, et al. Cell, 2015 Jul 16. PMID 26186194, Free PMC Article
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
  4. Architecture of the human interactome defines protein communities and disease networks. Huttlin EL, et al. Nature, 2017 May 25. PMID 28514442, Free PMC Article
  5. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article

See all (6) citations in PubMed

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
Discovery and refinement of loci associated with lipid levels.
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)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Potential readthrough

Included gene: TEX35

Clone Names

  • FLJ35530, FLJ40199, DKFZp564J047

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_033186.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AK092849, AL513013, BC136727
    Related
    ENST00000521244.1

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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    178542796..178548889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    177897519..177903612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_207467.1: Suppressed sequence

    Description
    NM_207467.1: This RefSeq was permanently suppressed 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
Q5T0J3.1 GenPept UniProtKB/Swiss-Prot:Q5T0J3

Gene LinkOut

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

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