Overview

Variant ID 15800
Entrez Gene ID 55553
Gene SOX6 (GeneCards)
Location hg19 11:16172470-16172470
hg38 11:16150924-16150924
Disease Cockayne syndrome (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000011.9:g.16172470 T>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 1.856
CADD Raw score (version 1.3) 1.992591 (Deleterious)
FATHMM raw prediction score 0.97559 (Tolerated)
Deleterious probability by DeFine 0.9567 (Deleterious)
Entrez Gene ID 55553 (NCBI Gene)
Official Gene Symbol SOX6 (GeneCards)
Number of variants in SOX6 in this database 5 (view all the variants)
Full name SRY-box 6
Band 11p15.2
Other IDs Vega: OTTHUMG00000165876
OMIM: 607257
HGNC: HGNC:16421
Ensembl: ENSG00000110693
Other names SOXD, HSSOX6
Summary This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

Individual #1

Individual ID 29217584.16 (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;