Variant ID | 19305 |
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Entrez Gene ID | 80031 |
Gene | SEMA6D (GeneCards) |
Location | hg19 15:48078934-48078934
hg38 15:47786737-47786737 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
Method | HiSeq X Ten |
Mutation(HGVS format) | NC_000015.9:g.48078934 C>T (Genome Assembly: GRCh37) |
Exon or Intron | NA |
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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 | 102531392 |
MAF in gnomAD genome (version 2.0.1) | 0 |
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EIGEN score | -0.4943 |
CADD Raw score (version 1.3) | -0.202301 (Deleterious) |
FATHMM raw prediction score | 0.07948 (Tolerated) |
Deleterious probability by DeFine | 0.4292 (Neutral) |
Entrez Gene ID | 80031 (NCBI Gene) |
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Official Gene Symbol | SEMA6D (GeneCards) |
Number of variants in SEMA6D in this database | 17 (view all the variants) |
Full name | semaphorin 6D |
Band | 15q21.1 |
Other IDs | Vega: OTTHUMG00000172110 OMIM: 609295 HGNC: HGNC:16770 Ensembl: ENSG00000137872 |
Other names | None |
Summary | Semaphorins are a large family, including both secreted and membrane associated proteins, many of which have been implicated as inhibitors or chemorepellents in axon pathfinding, fasciculation and branching, and target selection. All semaphorins possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Additional sequence motifs C-terminal to the semaphorin domain allow classification into distinct subfamilies. Results demonstrate that transmembrane semaphorins, like the secreted ones, can act as repulsive axon guidance cues. This gene encodes a class 6 vertebrate transmembrane semaphorin that demonstrates alternative splicing. Several transcript variants have been identified and expression of the distinct encoded isoforms is thought to be regulated in a tissue- and development-dependent manner. [provided by RefSeq, Nov 2010] |
Individual ID | 29217584.23 (view all the variants in this individual) |
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Pubmed ID | 29217584 |
Whose mosaic mutation | Female Patient |
Phenotype | 3 |
Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
OMIM ID | 278700 |
Pubmed ID | 29217584 |
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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; |