| Variant ID | 11434 |
|---|---|
| Entrez Gene ID | 10512 |
| Gene | SEMA3C (GeneCards) |
| Location | hg19 7:80478953-80478953
hg38 7:80849637-80849637 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.80478953 C>T (Genome Assembly: GRCh37) |
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.3697 |
| CADD Raw score (version 1.3) | -0.212705 (Deleterious) |
| FATHMM raw prediction score | 0.06233 (Tolerated) |
| Deleterious probability by DeFine | 0.255 (Neutral) |
| Entrez Gene ID | 10512 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEMA3C (GeneCards) |
| Number of variants in SEMA3C in this database | 8 (view all the variants) |
| Full name | semaphorin 3C |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000023447 OMIM: 602645 HGNC: HGNC:10725 Ensembl: ENSG00000075223 |
| Other names | SemE, SEMAE |
| Summary | This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017] |
| 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 |
| 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; |