| Variant ID | 29845 |
|---|---|
| Entrez Gene ID | 6749 |
| Gene | SSRP1 (GeneCards) |
| Location | hg19 11:57102018-57102018
hg38 11:57334544-57334544 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000011.9:g.57102018 C>T (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9811 |
| CADD Raw score (version 1.3) | 11.856066 (Deleterious) |
| FATHMM raw prediction score | 0.9935 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.66 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.335 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.79 |
| Deleterious probability by DeFine | 0.9559 (Deleterious) |
| Entrez Gene ID | 6749 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SSRP1 (GeneCards) |
| Number of variants in SSRP1 in this database | 4 (view all the variants) |
| Full name | structure specific recognition protein 1 |
| Band | 11q12.1 |
| Other IDs | Vega: OTTHUMG00000167024 OMIM: 604328 HGNC: HGNC:11327 Ensembl: ENSG00000149136 |
| Other names | FACT, T160, FACT80 |
| Summary | The protein encoded by this gene is a subunit of a heterodimer that, along with SUPT16H, forms chromatin transcriptional elongation factor FACT. FACT interacts specifically with histones H2A/H2B to effect nucleosome disassembly and transcription elongation. FACT and cisplatin-damaged DNA may be crucial to the anticancer mechanism of cisplatin. This encoded protein contains a high mobility group box which most likely constitutes the structure recognition element for cisplatin-modified DNA. This protein also functions as a co-activator of the transcriptional activator p63. An alternatively spliced transcript variant of this gene has been described, but its full-length nature is not known. [provided by RefSeq, Jul 2008] |
| Individual ID | 28867142.12 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female 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; |