| Variant ID | 29719 |
|---|---|
| Entrez Gene ID | 26750 |
| Gene | RPS6KC1 (GeneCards) |
| Location | hg19 1:213302953-213302953
hg38 1:213129610-213129610 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000001.10:g.213302953 C>A (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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| EIGEN score | -0.019 |
| CADD Raw score (version 1.3) | 2.591543 (Deleterious) |
| FATHMM raw prediction score | 0.95331 (Tolerated) |
| SIFT score | 0.016 (Deleterious) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.999 (Deleterious) |
| MutatioinAssessor score | 1.525 (Tolerated) |
| PROVEAN score | -1.41 (Tolerated) |
| MetaSVM score | -1.089 (Tolerated) |
| MetaLR score | 0.067 (Tolerated) |
| MCAP score | 0.018 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.54 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.833 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.502 |
| Deleterious probability by iFish2 | 0.1177 (Neutral) |
| Deleterious probability by DeFine | 0.9613 (Deleterious) |
| Entrez Gene ID | 26750 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RPS6KC1 (GeneCards) |
| Number of variants in RPS6KC1 in this database | 10 (view all the variants) |
| Full name | ribosomal protein S6 kinase C1 |
| Band | 1q32.3 |
| Other IDs | Vega: OTTHUMG00000036926 OMIM: 617517 HGNC: HGNC:10439 Ensembl: ENSG00000136643 |
| Other names | RSKL1, RPK118, S6PKh1, hmS6PKh1, S6K-delta-1 |
| Summary | Sphingosine kinase catalyzes the formation of sphingosine 1 phosphate, a lipid cellular messenger. The protein encoded by this gene can bind to sphingosine kinase and to phosphatidylinositol 3-phosphate, suggesting a role in sphingosine 1 phophate signaling. The encoded protein can also bind to peroxiredoxin-3 and may help transport it to mitochondria. [provided by RefSeq, Mar 2017] |
| Individual ID | 28867142.19 (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; |