Overview

Variant ID 15013
Entrez Gene ID 51501
Gene C11orf73 (GeneCards)
Location hg19 11:86046602-86046602
hg38 11:86335560-86335560
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.86046602 G>A (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.2195
CADD Raw score (version 1.3) -0.064829 (Deleterious)
FATHMM raw prediction score 0.11867 (Tolerated)
Deleterious probability by DeFine 0.1734 (Neutral)
Entrez Gene ID 51501 (NCBI Gene)
Official Gene Symbol C11orf73 (GeneCards)
Number of variants in HIKESHI in this database 3 (view all the variants)
Full name Hikeshi, heat shock protein nuclear import factor
Band 11q14.2
Other IDs Vega: OTTHUMG00000167212
OMIM: 614908
HGNC: HGNC:26938
Ensembl: ENSG00000149196
Other names HLD13, L7RN6, OPI10, HSPC138, HSPC179, C11orf73
Summary This gene encodes an evolutionarily conserved nuclear transport receptor that mediates heat-shock-induced nuclear import of 70 kDa heat-shock proteins (Hsp70s) through interactions with FG-nucleoporins. The protein mediates transport of the ATP form but not the ADP form of Hsp70 proteins under conditions of heat shock stress. Structural analyses demonstrate that the protein forms an asymmetric homodimer and that the N-terminal domain consists of a jelly-roll/beta-sandwich fold structure that contains hydrophobic pockets involved in FG-nucleoporin recognition. Reduction of RNA expression levels in HeLa cells using small interfering RNAs results in inhibition of heat shock-induced nuclear accumulation of Hsp70s, indicating a role for this gene in regulation of Hsp70 nuclear import during heat shock stress. [provided by RefSeq, Apr 2016]

Individual #1

Individual ID 29217584.03 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;