| Variant ID | 11435 |
|---|---|
| Entrez Gene ID | 9723 |
| Gene | SEMA3E (GeneCards) |
| Location | hg19 7:83129514-83129514
hg38 7:83500198-83500198 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.83129514 G>A (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 | -0.6758 |
| CADD Raw score (version 1.3) | -0.302939 (Deleterious) |
| FATHMM raw prediction score | 0.05268 (Tolerated) |
| Deleterious probability by DeFine | 0.2189 (Neutral) |
| Entrez Gene ID | 9723 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SEMA3E (GeneCards) |
| Number of variants in SEMA3E in this database | 8 (view all the variants) |
| Full name | semaphorin 3E |
| Band | 7q21.11 |
| Other IDs | Vega: OTTHUMG00000154693 OMIM: 608166 HGNC: HGNC:10727 Ensembl: ENSG00000170381 |
| Other names | SEMAH, coll-5, M-SEMAH, M-SemaK |
| Summary | Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
| 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; |