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Gene : WRB Homo sapiens

Name  ? tryptophan rich basic protein Cytological Location  21q22.2
Brief Description  tryptophan rich basic protein
description  This gene is located in the candidate region for congenital heart disease (CHD) in Down syndrome (DS). It encodes a basic protein that functions as a receptor that promotes insertion of tail-anchored proteins in the endoplasmic reticulum membrane. This gene is located at a maternally-methylated differentially methylated region (DMR); however, its transcription may be biallelic, not imprinted. Alternative splicing results in different transcript variants. A pseudogene has been defined on chromosome 4. [provided by RefSeq, Apr 2017]
  • synonyms:
  • CHD5,
  • HGNC:12790,
  • CHD5,
  • OTTHUMG00000066250,
  • GET1,
  • GET1,
  • uc002yxs.4,
  • NM_001146218,
  • WRB
  • identifiers:
  • 7485,
  • ENSG00000182093,
  • WRB

Genome feature

Region: gene ? Length: 48285  
Location: 21:39380244-39428528 Cyto location: 21q22.2


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Function

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Gene --> GO terms.

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

2011 SN Ps

5 Cross References

16 Data Sets

3 Homologues

0 Located Features

90 Rna Seq Results