| Variant ID | 29515 |
|---|---|
| Entrez Gene ID | 1301 |
| Gene | COL11A1 (GeneCards) |
| Location | hg19 1:103352554-103352554
hg38 1:102886998-102886998 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.103352554 C>A (Genome Assembly: hg19) |
| 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.7909 |
| CADD Raw score (version 1.3) | 5.589588 (Deleterious) |
| FATHMM raw prediction score | 0.99163 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.92 (Deleterious) |
| PROVEAN score | -5.47 (Deleterious) |
| MetaSVM score | 0.379 (Deleterious) |
| MetaLR score | 0.711 (Deleterious) |
| MCAP score | 0.235 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.905 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.456 |
| Deleterious probability by iFish2 | 0.516 (Deleterious) |
| Deleterious probability by DeFine | 0.9491 (Deleterious) |
| Entrez Gene ID | 1301 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL11A1 (GeneCards) |
| Number of variants in COL11A1 in this database | 7 (view all the variants) |
| Full name | collagen type XI alpha 1 chain |
| Band | 1p21.1 |
| Other IDs | Vega: OTTHUMG00000010872 OMIM: 120280 HGNC: HGNC:2186 Ensembl: ENSG00000060718 |
| Other names | STL2, COLL6, CO11A1 |
| Summary | This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009] |
| Individual ID | 28714951.191 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |