AutismKB 2.0

Evidence Details for SORBS2


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Basic Information Top
Gene Symbol:SORBS2 ( ARGBP2,FLJ93447,KIAA0777,PRO0618 )
Gene Full Name: sorbin and SH3 domain containing 2
Band: 4q35.1
Quick LinksEntrez ID:8470; OMIM: NA; Uniprot ID:SRBS2_HUMAN; ENSEMBL ID: ENSG00000154556; HGNC ID: 24098
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SORBS2|8470|nucleotide
ATGTCTGTTACGCTAACATCTGTGAAGAGAGTGCAAAGTTCTCCAAACCTATTGGCTGCAGGGCGTGATTCTCAGTCACCAGACTCAGCTTGGAGATCTTACAAT
GATGGCAATCAGGAGACACTGAACGGAGATGCTACATATTCCTCTCTTGCAGCAAAAGGTTTTAGAAGCGTTCGACCAAACCTACAAGATAAAAGATCACCAACT
CAGAGCCAGATAACAGTGAATGGAAACTCAGGAGGTGCCGTGAGTCCCATGAGTTACTATCAGAGGCCGTTTTCCCCCTCGGCATATTCTCTCCCAGCCTCACTC
AACTCCAGCATTGTCATGCAGCACGGCACATCCCTCGATTCCACAGACACATATCCCCAGCATGCGCAGTCTCTGGATGGCACCACCAGCAGCTCTATCCCCCTG
TACCGATCCTCAGAGGAAGAGAAGAGAGTGACAGTCATCAAAGCCCCGCATTACCCAGGGATCGGGCCCGTGGATGAATCCGGAATCCCCACAGCAATTAGAACG
ACAGTCGACCGGCCCAAGGACTGGTACAAGACGATGTTTAAGCAAATTCACATGGTGCACAAGCCGGGTCTGTACAACCCACCCTACAGTGCTCAGTCACACCCT
GCTGCAAAGACCCAAACCTACAGACCTCTTTCCAAAAGCCACTCCGACAACAGCCCCAATGCCTTTAAGGATGCGTCCTCCCCAGTGCCTCCCCCACATGTTCCA
CCTCCAGTCCCGCCGCTTCGACCAAGAGATCGGTCTTCAACAGAAAAGCATGACTGGGATCCTCCAGACAGAAAAGTGGACACAAGAAAATTTCGGTCTGAGCCA
AGGAGTATTTTTGAATATGAACCTGGCAAGTCATCAATTCTTCAGCATGAAAGACCAGCCTCCTTGTATCAGTCCTCTATAGACAGAAGCCTGGAAAGACCCATG
AGTTCTGCAAGCATGGCCAGTGACTTCAGGAAGCGGAGGAAGAGCGAGCCTGCAGTGGGTCCACCACGGGGCTTGGGAGATCAAAGTGCGAGCAGGACTAGCCCA
GGCCGAGTGGACCTCCCAGGATCAAGCACCACTCTTACAAAGTCTTTCACTAGCTCTTCTCCTTCTTCCCCATCAAGAGCAAAAGACCGTGAGTCCCCTAGAAGT
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>SORBS2|8470|protein
MSVTLTSVKRVQSSPNLLAAGRDSQSPDSAWRSYNDGNQETLNGDATYSSLAAKGFRSVRPNLQDKRSPTQSQITVNGNSGGAVSPMSYYQRPFSPSAYSLPASL
NSSIVMQHGTSLDSTDTYPQHAQSLDGTTSSSIPLYRSSEEEKRVTVIKAPHYPGIGPVDESGIPTAIRTTVDRPKDWYKTMFKQIHMVHKPGLYNPPYSAQSHP
AAKTQTYRPLSKSHSDNSPNAFKDASSPVPPPHVPPPVPPLRPRDRSSTEKHDWDPPDRKVDTRKFRSEPRSIFEYEPGKSSILQHERPASLYQSSIDRSLERPM
SSASMASDFRKRRKSEPAVGPPRGLGDQSASRTSPGRVDLPGSSTTLTKSFTSSSPSSPSRAKDRESPRSYSSTLTDMGRSAPRERRGTPEKEKLPAKAVYDFKA
QTSKELSFKKGDTVYILRKIDQNWYEGEHHGRVGIFPISYVEKLTPPEKAQPARPPPPAQPGEIGEAIAKYNFNADTNVELSLRKGDRVILLKRVDQNWYEGKIP
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Evidence summary Top

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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 (0) 0 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (3)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top