AutismKB 2.0

Evidence Details for SHKBP1


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Basic Information Top
Gene Symbol:SHKBP1 ( Sb1 )
Gene Full Name: SH3KBP1 binding protein 1
Band: 19q13.2
Quick LinksEntrez ID:92799; OMIM: NA; Uniprot ID:SHKB1_HUMAN; ENSEMBL ID: ENSG00000160410; HGNC ID: 19214
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SHKBP1|92799|nucleotide
ATGGCAGCAGCGGCTACTGCAGCCGAGGGGGTCCCCAGTCGGGGGCCTCCCGGGGAAGTCATTCATCTGAATGTGGGAGGCAAGAGATTCAGTACCTCTCGCCAG
ACTCTCACCTGGATCCCAGACTCCTTCTTCTCCAGTCTTCTGAGCGGACGCATCTCGACGCTGAAAGATGAGACCGGAGCAATCTTCATCGACAGGGACCCTACA
GTCTTCGCCCCCATCCTCAACTTCCTGCGCACCAAAGAGTTGGATCCCAGGGGTGTCCACGGTTCCAGCCTCCTCCATGAAGCCCAGTTCTATGGGCTCACTCCT
CTGGTTCGTCGCCTGCAGCTTCGAGAGGAGTTGGATCGATCTTCTTGTGGAAACGTCCTCTTCAATGGTTACCTGCCGCCACCAGTGTTCCCAGTGAAGCGGCGG
AACCGGCACAGCCTAGTGGGGCCTCAGCAGCTAGGAGGACGGCCAGCCCCTGTCCGACGGAGCAACACGATGCCCCCCAACCTTGGCAATGCAGGGCTGCTGGGC
CGAATGCTGGATGAGAAAACCCCTCCCTCACCCTCAGGACAACCTGAGGAGCCGGGGATGGTGCGCCTGGTGTGTGGACACCATAATTGGATCGCTGTGGCCTAT
ACCCAGTTTCTAGTCTGCTACAGGTTGAAGGAAGCCTCTGGCTGGCAGCTGGTGTTTTCCAGCCCCCGCCTGGACTGGCCCATCGAACGACTGGCGCTCACAGCC
CGGGTGCATGGTGGGGCTTTGGGTGAACATGACAAGATGGTGGCAGCAGCCACCGGCAGCGAGATCCTGCTATGGGCTCTGCAGGCGGAAGGCGGTGGCTCCGAG
ATAGGGGTCTTTCATCTGGGGGTGCCTGTGGAGGCCTTGTTCTTCGTCGGGAACCAGCTCATTGCTACAAGCCACACAGGGCGCATCGGGGTGTGGAATGCCGTC
ACCAAGCACTGGCAGGTCCAGGAGGTGCAGCCCATCACCAGTTATGACGCGGCAGGCTCCTTCCTCCTCCTGGGCTGCAACAACGGCTCCATTTACTACGTGGAT
GTGCAGAAGTTCCCCTTGCGCATGAAAGACAACGACCTCCTTGTCAGCGAGCTCTATCGGGACCCAGCGGAGGATGGGGTCACCGCCCTCAGTGTCTACCTCACC
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>SHKBP1|92799|protein
MAAAATAAEGVPSRGPPGEVIHLNVGGKRFSTSRQTLTWIPDSFFSSLLSGRISTLKDETGAIFIDRDPTVFAPILNFLRTKELDPRGVHGSSLLHEAQFYGLTP
LVRRLQLREELDRSSCGNVLFNGYLPPPVFPVKRRNRHSLVGPQQLGGRPAPVRRSNTMPPNLGNAGLLGRMLDEKTPPSPSGQPEEPGMVRLVCGHHNWIAVAY
TQFLVCYRLKEASGWQLVFSSPRLDWPIERLALTARVHGGALGEHDKMVAAATGSEILLWALQAEGGGSEIGVFHLGVPVEALFFVGNQLIATSHTGRIGVWNAV
TKHWQVQEVQPITSYDAAGSFLLLGCNNGSIYYVDVQKFPLRMKDNDLLVSELYRDPAEDGVTALSVYLTPKTSDSGNWIEIAYGTSSGGVRVIVQHPETVGSGP
QLFQTFTVHRSPVTKIMLSEKHLISVCADNNHVRTWSVTRFRGMISTQPGSTPLASFKILALESADGHGGCSAGNDIGPYGERDDQQVFIQKVVPSASQLFVRLS
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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) 1 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top