| Variant ID | 29945 |
|---|---|
| Entrez Gene ID | 10178 |
| Gene | TENM1 (GeneCards) |
| Location | hg19 X:123517756-123517756
hg38 X:124383906-124383906 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000023.10:g.123517756 T>C (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 155270560 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| CADD Raw score (version 1.3) | 4.311676 (Deleterious) |
| FATHMM raw prediction score | 0.96431 (Tolerated) |
| SIFT score | 0.075 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.12 (Deleterious) |
| PROVEAN score | -2.9 (Deleterious) |
| MetaSVM score | 0.528 (Deleterious) |
| MetaLR score | 0.758 (Deleterious) |
| MCAP score | 0.659 (Deleterious) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.88 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.271 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.204 |
| Deleterious probability by iFish2 | 0.3672 (Neutral) |
| Deleterious probability by DeFine | 0.9468 (Deleterious) |
| Entrez Gene ID | 10178 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TENM1 (GeneCards) |
| Number of variants in TENM1 in this database | 5 (view all the variants) |
| Full name | teneurin transmembrane protein 1 |
| Band | Xq25 |
| Other IDs | Vega: OTTHUMG00000022721 OMIM: 300588 HGNC: HGNC:8117 Ensembl: ENSG00000009694 |
| Other names | TNM, ODZ1, ODZ3, TNM1, TEN-M1 |
| Summary | The protein encoded by this gene belongs to the tenascin family and teneurin subfamily. It is expressed in the neurons and may function as a cellular signal transducer. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009] |
| Individual ID | 28867142.25 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |