Overview

Variant ID 7187
Entrez Gene ID 9987
Gene HNRNPDL (GeneCards)
Location hg19 4:83347260-83347260
hg38 4:82426107-82426107
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.83347260 C>T (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 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score 1.6928
CADD Raw score (version 1.3) 1.151714 (Deleterious)
FATHMM raw prediction score 0.89881 (Tolerated)
Deleterious probability by DeFine 0.9001 (Deleterious)
Entrez Gene ID 9987 (NCBI Gene)
Official Gene Symbol HNRNPDL (GeneCards)
Number of variants in HNRNPDL in this database 1 (view all the variants)
Full name heterogeneous nuclear ribonucleoprotein D like
Band 4q21.22
Other IDs Vega: OTTHUMG00000130299
OMIM: 607137
HGNC: HGNC:5037
Ensembl: ENSG00000152795
Other names HNRNP, JKTBP, HNRPDL, JKTBP2, LGMD1G, laAUF1
Summary This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

Individual #1

Individual ID 29217584.19 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female 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;