AutismKB 2.0

Evidence Details for STXBP1


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Basic Information Top
Gene Symbol:STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name: syntaxin binding protein 1
Band: 9q34.11
Quick LinksEntrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STXBP1|6812|nucleotide
ATGGCCCCCATTGGCCTCAAAGCTGTTGTCGGAGAGAAGATTATGCATGATGTGATAAAGAAGGTCAAGAAGAAGGGGGAATGGAAGGTGCTGGTGGTGGATCAG
TTAAGCATGAGGATGCTGTCCTCCTGCTGCAAGATGACAGACATCATGACCGAGGGCATAACGATTGTGGAAGATATCAATAAGCGCAGAGAGCCGCTCCCCAGC
CTGGAGGCTGTGTATCTCATCACTCCATCCGAGAAGTCCGTCCACTCTCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACCGGGCTGCACACGTCTTC
TTCACTGACTCTTGTCCAGATGCCCTGTTTAATGAACTGGTAAAATCCCGAGCAGCCAAAGTCATCAAAACTCTGACGGAAATCAATATTGCATTTCTCCCGTAT
GAATCCCAGGTCTATTCCTTGGACTCTGCTGACTCTTTCCAAAGCTTCTACAGTCCCCACAAGGCTCAGATGAAGAATCCTATACTGGAGCGCCTGGCAGAGCAG
ATCGCGACCCTTTGTGCCACCCTGAAGGAGTACCCGGCTGTGCGGTATCGGGGGGAATACAAGGACAATGCCCTGCTGGCTCAGCTAATCCAGGACAAGCTCGAT
GCCTATAAAGCTGATGATCCAACAATGGGGGAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCCTGGATCGAGGCTTTGACCCCAGCTCCCCTGTGCTCCAT
GAATTGACTTTTCAGGCTATGAGTTATGATCTGCTGCCTATCGAAAATGATGTATACAAGTATGAGACCAGCGGCATCGGGGAGGCACGGGTGAAGGAGGTGCTC
CTGGACGAGGACGACGACCTGTGGATAGCACTGCGCCACAAGCACATCGCAGAGGTGTCCCAGGAAGTCACCCGGTCTCTGAAAGATTTTTCTTCTAGCAAGAGA
ATGAATACTGGAGAGAAGACCACCATGCGGGACCTGTCCCAGATGCTGAAGAAGATGCCTCAGTACCAGAAAGAGCTCAGCAAGTACTCCACCCACCTGCACCTT
GCTGAGGACTGTATGAAGCATTACCAAGGCACCGTAGACAAACTCTGCCGAGTGGAGCAGGACCTGGCCATGGGCACAGATGCTGAGGGAGAGAAGATCAAGGAC
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>STXBP1|6812|protein
MAPIGLKAVVGEKIMHDVIKKVKKKGEWKVLVVDQLSMRMLSSCCKMTDIMTEGITIVEDINKRREPLPSLEAVYLITPSEKSVHSLISDFKDPPTAKYRAAHVF
FTDSCPDALFNELVKSRAAKVIKTLTEINIAFLPYESQVYSLDSADSFQSFYSPHKAQMKNPILERLAEQIATLCATLKEYPAVRYRGEYKDNALLAQLIQDKLD
AYKADDPTMGEGPDKARSQLLILDRGFDPSSPVLHELTFQAMSYDLLPIENDVYKYETSGIGEARVKEVLLDEDDDLWIALRHKHIAEVSQEVTRSLKDFSSSKR
MNTGEKTTMRDLSQMLKKMPQYQKELSKYSTHLHLAEDCMKHYQGTVDKLCRVEQDLAMGTDAEGEKIKDPMRAIVPILLDANVSTYDKIRIILLYIFLKNGITE
ENLNKLIQHAQIPPEDSEIITNMAHLGVPIVTDSTLRRRSKPERKERISEQTYQLSRWTPIIKDIMEDTIEDKLDTKHYPYISTRSSASFSTTAVSARYGHWHKN
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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) 3 (3) 2 (7) 0 (0) 1 (1) 0 (0) 33 (13)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Krumm N, 2015 - ---- 1266 - - - - - -
Linkage Studies Top