Evidence Details for SORBS1
Basic Information Top
| Gene Symbol: | SORBS1 ( CAP,DKFZp451C066,DKFZp586P1422,FLAF2,FLJ12406,KIAA1296,R85FL,SH3D5,SH3P12,SORB1 ) |
|---|---|
| Gene Full Name: | sorbin and SH3 domain containing 1 |
| Band: | 10q24.1 |
| Quick Links | Entrez ID:10580; OMIM: 605264; Uniprot ID:SRBS1_HUMAN; ENSEMBL ID: ENSG00000095637; HGNC ID: 14565 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>SORBS1|10580|nucleotide
ATGAGTTCTGAATGTGATGGTGGTTCCAAAGCTGTGATGAATGGCTTGGCACCTGGCAGCAATGGGCAAGACAAAGCAACTGCCGACCCTTTACGCGCACGCTCT
ATTTCTGCTGTTAAAATCATTCCTGTGAAGACAGTGAAAAACGCCTCAGGCCTAGTTCTCCCTACAGACATGGATCCTACAAAAATCTGCACTGGGAAGGGAGCG
GTGACTCTCCGGGCCTCGTCTTCCTACAGGGAAACCCCAAGCAGTAGCCCTGCGAGCCCTCAGGAAACCCGGCAACACGAAAGCAAACCAGGTCTGGAGCCAGAG
CCTTCTTCAGCAGATGAGTGGAGGCTTTCTTCCAGTGCTGATGCCAATGGAAATGCCCAGCCCTCTTCACTCGCTGCCAAGGGCTACAGAAGTGTGCATCCCAAC
CTTCCTTCTGACAAGTCCCAGGATGCCACTTCCTCCAGTGCAGCCCAGCCGGAGGTAATAGTTGTCCCTCTCTACCTGGTTAATACTGACAGAGGGCAAGAAGGC
ACTGCCAGACCTCCAACACCTCTGGGGCCTCTTGGCTGCGTCCCCACAATCCCAGCGACTGCCTCTGCCGCCTCACCTCTGACCTTCCCGACTCTAGATGATTTC
ATTCCCCCTCATCTGCAGAGGTGGCCCCACCACAGCCAGCCAGCCCGCGCCTCTGGCTCCTTTGCCCCCATTAGCCAGACGCCACCATCCTTCTCACCACCACCT
CCGCTGGTCCCTCCTGCCCCGGAGGACCTCCGCAGAGTCTCGGAGCCTGACCTCACGGGAGCTGTTTCGAGTACCGATTCCAGTCCTCTACTAAATGAAGTTTCT
TCTTCCCTTATTGGAACTGATTCCCAAGCCTTTCCATCAGTTAGCAAGCCTTCATCCGCCTATCCCTCCACAACGATTGTCAATCCTACTATTGTGCTCTTGCAA
CACAATCGAGAACAGCAAAAACGACTCAGTAGCCTTTCAGATCCTGTCTCAGAAAGAAGAGTGGGAGAGCAGGACTCAGCACCAACCCAGGAAAAACCCACCTCA
CCTGGCAAGGCTATTGAAAAAAGAGCAAAGGATGACAGTAGGCGGGTGGTGAAGAGCACTCAGGACTTAAGCGATGTTTCCATGGATGAAGTGGGCATCCCACTC
Show »
ATGAGTTCTGAATGTGATGGTGGTTCCAAAGCTGTGATGAATGGCTTGGCACCTGGCAGCAATGGGCAAGACAAAGCAACTGCCGACCCTTTACGCGCACGCTCT
ATTTCTGCTGTTAAAATCATTCCTGTGAAGACAGTGAAAAACGCCTCAGGCCTAGTTCTCCCTACAGACATGGATCCTACAAAAATCTGCACTGGGAAGGGAGCG
GTGACTCTCCGGGCCTCGTCTTCCTACAGGGAAACCCCAAGCAGTAGCCCTGCGAGCCCTCAGGAAACCCGGCAACACGAAAGCAAACCAGGTCTGGAGCCAGAG
CCTTCTTCAGCAGATGAGTGGAGGCTTTCTTCCAGTGCTGATGCCAATGGAAATGCCCAGCCCTCTTCACTCGCTGCCAAGGGCTACAGAAGTGTGCATCCCAAC
CTTCCTTCTGACAAGTCCCAGGATGCCACTTCCTCCAGTGCAGCCCAGCCGGAGGTAATAGTTGTCCCTCTCTACCTGGTTAATACTGACAGAGGGCAAGAAGGC
ACTGCCAGACCTCCAACACCTCTGGGGCCTCTTGGCTGCGTCCCCACAATCCCAGCGACTGCCTCTGCCGCCTCACCTCTGACCTTCCCGACTCTAGATGATTTC
ATTCCCCCTCATCTGCAGAGGTGGCCCCACCACAGCCAGCCAGCCCGCGCCTCTGGCTCCTTTGCCCCCATTAGCCAGACGCCACCATCCTTCTCACCACCACCT
CCGCTGGTCCCTCCTGCCCCGGAGGACCTCCGCAGAGTCTCGGAGCCTGACCTCACGGGAGCTGTTTCGAGTACCGATTCCAGTCCTCTACTAAATGAAGTTTCT
TCTTCCCTTATTGGAACTGATTCCCAAGCCTTTCCATCAGTTAGCAAGCCTTCATCCGCCTATCCCTCCACAACGATTGTCAATCCTACTATTGTGCTCTTGCAA
CACAATCGAGAACAGCAAAAACGACTCAGTAGCCTTTCAGATCCTGTCTCAGAAAGAAGAGTGGGAGAGCAGGACTCAGCACCAACCCAGGAAAAACCCACCTCA
CCTGGCAAGGCTATTGAAAAAAGAGCAAAGGATGACAGTAGGCGGGTGGTGAAGAGCACTCAGGACTTAAGCGATGTTTCCATGGATGAAGTGGGCATCCCACTC
Show »
>SORBS1|10580|protein
MSSECDGGSKAVMNGLAPGSNGQDKATADPLRARSISAVKIIPVKTVKNASGLVLPTDMDPTKICTGKGAVTLRASSSYRETPSSSPASPQETRQHESKPGLEPE
PSSADEWRLSSSADANGNAQPSSLAAKGYRSVHPNLPSDKSQDATSSSAAQPEVIVVPLYLVNTDRGQEGTARPPTPLGPLGCVPTIPATASAASPLTFPTLDDF
IPPHLQRWPHHSQPARASGSFAPISQTPPSFSPPPPLVPPAPEDLRRVSEPDLTGAVSSTDSSPLLNEVSSSLIGTDSQAFPSVSKPSSAYPSTTIVNPTIVLLQ
HNREQQKRLSSLSDPVSERRVGEQDSAPTQEKPTSPGKAIEKRAKDDSRRVVKSTQDLSDVSMDEVGIPLRNTERSKDWYKTMFKQIHKLNRDTPEENPYFPTYK
FPELPEIQQTSEEDNPYTPTYQFPASTPSPKSEDDDSDLYSPRYSFSEDTKSPLSVPRSKSEMSYIDGEKVVKRSATLPLPARSSSLKSSSERNDWEPPDKKVDT
Show »
MSSECDGGSKAVMNGLAPGSNGQDKATADPLRARSISAVKIIPVKTVKNASGLVLPTDMDPTKICTGKGAVTLRASSSYRETPSSSPASPQETRQHESKPGLEPE
PSSADEWRLSSSADANGNAQPSSLAAKGYRSVHPNLPSDKSQDATSSSAAQPEVIVVPLYLVNTDRGQEGTARPPTPLGPLGCVPTIPATASAASPLTFPTLDDF
IPPHLQRWPHHSQPARASGSFAPISQTPPSFSPPPPLVPPAPEDLRRVSEPDLTGAVSSTDSSPLLNEVSSSLIGTDSQAFPSVSKPSSAYPSTTIVNPTIVLLQ
HNREQQKRLSSLSDPVSERRVGEQDSAPTQEKPTSPGKAIEKRAKDDSRRVVKSTQDLSDVSMDEVGIPLRNTERSKDWYKTMFKQIHKLNRDTPEENPYFPTYK
FPELPEIQQTSEEDNPYTPTYQFPASTPSPKSEDDDSDLYSPRYSFSEDTKSPLSVPRSKSEMSYIDGEKVVKRSATLPLPARSSSLKSSSERNDWEPPDKKVDT
Show »
Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (1) | 0 (0) | 0 (3) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 1
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) |  |  | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies TopLinkage Studies TopLow Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Iossifov I, 2014 | 2508 | - | 1194 | The contribution of de novo coding mutations to autism spectrum disorder. |
NGS Mosaic SNV Studies TopNGS Other Studies Top| Reference | Source | Platform | ADI-R | ADOS | Diagnosis | Family | Affected | Validation Method | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | ||||||||
| Cukier HN, 2014 | - | Illumina HiSeq 2000 | | | ASD | 40 | - | - | 100 | HumanExome BeadChip or Sanger sequencing |
Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.