| Variant ID | 29682 |
|---|---|
| Entrez Gene ID | 6746 |
| Gene | SSR2 (GeneCards) |
| Location | hg19 1:155981618-155981618
hg38 1:156011827-156011827 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.155981618 G>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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 897092 |
| Variant occurences in COSMIC | 1(oesophagus)|1(upper_aerodigestive_tract)|1(large_intestine)|1(endometrium) |
| EIGEN score | 0.5724 |
| CADD Raw score (version 1.3) | 12.485664 (Deleterious) |
| FATHMM raw prediction score | 0.97709 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 1.712 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.276 |
| Deleterious probability by DeFine | 0.8662 (Deleterious) |
| Entrez Gene ID | 6746 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SSR2 (GeneCards) |
| Number of variants in SSR2 in this database | 2 (view all the variants) |
| Full name | signal sequence receptor subunit 2 |
| Band | 1q22 |
| Other IDs | Vega: OTTHUMG00000017456 OMIM: 600867 HGNC: HGNC:11324 Ensembl: ENSG00000163479 |
| Other names | TLAP, HSD25, TRAPB, TRAP-BETA |
| Summary | The signal sequence receptor (SSR) is a glycosylated endoplasmic reticulum (ER) membrane receptor associated with protein translocation across the ER membrane. The SSR consists of 2 subunits, a 34-kD glycoprotein (alpha-SSR or SSR1) and a 22-kD glycoprotein (beta-SSR or SSR2). The human beta-signal sequence receptor gene (SSR2) maps to chromosome bands 1q21-q23. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.358 (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; |