Overview

Variant ID 6543
Entrez Gene ID 51809
Gene GALNT7 (GeneCards)
Location hg19 4:174131734-174131734
hg38 4:173210583-173210583
Disease
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.174131734 A>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 -0.3208
CADD Raw score (version 1.3) 0.167213 (Deleterious)
FATHMM raw prediction score 0.10111 (Tolerated)
Deleterious probability by DeFine 0.4029 (Neutral)
Entrez Gene ID 51809 (NCBI Gene)
Official Gene Symbol GALNT7 (GeneCards)
Number of variants in GALNT7 in this database 2 (view all the variants)
Full name polypeptide N-acetylgalactosaminyltransferase 7
Band 4q34.1
Other IDs Vega: OTTHUMG00000160817
OMIM: 605005
HGNC: HGNC:4129
Ensembl: ENSG00000109586
Other names GalNAcT7, GALNAC-T7
Summary This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008]

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;