Overview

Variant ID 5827
Entrez Gene ID 64651
Gene CSRNP1 (GeneCards)
Location hg19 3:39185908-39185908
hg38 3:39144417-39144417
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000003.11:g.39185908 C>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 198022430

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.6003
CADD Raw score (version 1.3) 3.393329 (Deleterious)
FATHMM raw prediction score 0.32151 (Tolerated)
SIFT score 0.008 (Deleterious)
LRT score 0.002 (Tolerated)
MutationTaster score 1 (Tolerated)
MutatioinAssessor score 2.56 (Deleterious)
PROVEAN score -1.7 (Tolerated)
MetaSVM score -1.026 (Tolerated)
MetaLR score 0.021 (Tolerated)
MCAP score 0.019 (Tolerated)
FitCons score 0.49 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 2.15
PhyloP score based on multiple alignment of 100 vertebrates 0.763
PhastCons score based on multiple alignment of 100 vertebrates 0
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 7.321
Deleterious probability by iFish2 0.2041 (Neutral)
Deleterious probability by DeFine 0.8886 (Deleterious)
Entrez Gene ID 64651 (NCBI Gene)
Official Gene Symbol CSRNP1 (GeneCards)
Number of variants in CSRNP1 in this database 4 (view all the variants)
Full name cysteine and serine rich nuclear protein 1
Band 3p22.2
Other IDs Vega: OTTHUMG00000131293
OMIM: 606458
HGNC: HGNC:14300
Ensembl: ENSG00000144655
Other names AXUD1, URAX1, TAIP-3, CSRNP-1, FAM130B
Summary This gene encodes a protein that localizes to the nucleus and expression of this gene is induced in response to elevated levels of axin. The Wnt signalling pathway, which is negatively regulated by axin, is important in axis formation in early development and impaired regulation of this signalling pathway is often involved in tumors. A decreased level of expression of this gene in tumors compared to the level of expression in their corresponding normal tissues suggests that this gene product has a tumor suppressor function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

Individual #1

Individual ID 29217584.20 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Male Patient  
Phenotype 3  
Disease Cockayne syndrome (view all the variants in this disease)
OMIM ID 216400

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;