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CECR7 cat eye syndrome chromosome region, candidate 7 [ Homo sapiens (human) ]

Gene ID: 100130418, updated on 17-Sep-2024

Summary

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Official Symbol
CECR7provided by HGNC
Official Full Name
cat eye syndrome chromosome region, candidate 7provided by HGNC
Primary source
HGNC:HGNC:1845
See related
AllianceGenome:HGNC:1845
Gene type
ncRNA
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CYCL; SAHL1
Expression
Biased expression in ovary (RPKM 7.0), brain (RPKM 1.6) and 13 other tissues See more
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Genomic context

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See CECR7 in Genome Data Viewer
Location:
22q11.1
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (17036570..17060070)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (17713261..17736791)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (17517460..17540960)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene IL9R pseudogene 6 Neighboring gene vomeronasal 1 receptor 9 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13427 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18610 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62188 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62204 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:17538919-17539419 Neighboring gene Sharpr-MPRA regulatory region 13635 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13428 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62270 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_62296 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13430 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13432 Neighboring gene interleukin 17 receptor A Neighboring gene ribosomal protein L31 pseudogene 62 Neighboring gene MPRA-validated peak4440 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18611 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr22:17587847-17589046 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13433 Neighboring gene transmembrane protein 121B

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. Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11. Bridgland L, et al. Hum Genet, 2003 Jan. PMID 12483300
  2. Molecular cloning of yeast cytochrome c-like polypeptide expressed in human lung carcinoma: an antigen recognizable by lung cancer-specific human monoclonal antibody. Kawamoto S, et al. In Vitro Cell Dev Biol Anim, 1995 Oct. PMID 8564085
  3. Analysis of the cat eye syndrome critical region in humans and the region of conserved synteny in mice: a search for candidate genes at or near the human chromosome 22 pericentromere. Footz TK, et al. Genome Res, 2001 Jun. PMID 11381032, Free PMC Article
  4. Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing. Fei T, et al. Proc Natl Acad Sci U S A, 2017 Jun 27. PMID 28611215, Free PMC Article
  5. 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

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. cycl gene from human 22nd chromosome that encodes the lung adenocarcinoma antigne recognized by the lung cancer specific monoclonal antibodies
    Title: Molecular cloning of yeast cytochrome c-like polypeptide expressed in human lung carcinoma: an antigen recognizable by lung cancer-specific human monoclonal antibody.
  2. This chimeric transcription unit is formed from three duplicons in the pericentromeric region of chromosome 22q.
    Title: Three duplicons form a novel chimeric transcription unit in the pericentromeric region of chromosome 22q11.
Submit: New GeneRIF Correction

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)

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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Markers

Potential readthrough

Included gene: IL17RA

Other Names

  • cat eye syndrome chromosome region, candidate 7 (non-protein coding)
  • cytochrome c-like antigen

Clone Names

  • FLJ40726

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_015352.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AY026052, BC008575

  2. NR_152825.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AY026052, BC008575, DB170302

  3. NR_152826.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC006946

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_000022.11 Reference GRCh38.p14 Primary Assembly

    Range
    17036570..17060070
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060946.1 Alternate T2T-CHM13v2.0

    Range
    17713261..17736791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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