AutismKB 2.0

Evidence Details for STXBP5L


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Basic Information Top
Gene Symbol:STXBP5L ( KIAA1006,LLGL4 )
Gene Full Name: syntaxin binding protein 5-like
Band: 3q13.33
Quick LinksEntrez ID:9515; OMIM: 609381; Uniprot ID:STB5L_HUMAN; ENSEMBL ID: ENSG00000145087; HGNC ID: 30757
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>STXBP5L|9515|nucleotide
ATGAAGAAGTTTAATTTCCGAAAAGTTTTGGATGGCTTAACTGCCTCCTCCCCTGGCAGTGGTAGCAGCAGTGGCAGTAACAGTGGTGGTGGGGCTGGAAGTGGT
TCCGTACATCCGGCGGGGACTGCAGGGGTTCTCAGAGAGGAAATTCAGGAAACTTTGACTTCGGAGTATTTCCAGATTTGCAAGACAGTTCGGCATGGTTTTCCT
CATCAGCCCACAGCATTAGCCTTTGATCCAGTTCAGAAAATCTTGGCTATTGGGACGAGAACAGGTGCTATACGAATACTCGGGAGACCTGGTGTTGATTGCTAT
TGCCAACATGAAAGTGGTGCAGCTGTCCTACAGCTCCAATTTTTGATCAATGAGGGTGCCTTGGTCAGTGCAAGTTCAGATGATACACTTCATTTGTGGAACCTT
AGACAAAAAAGGCCAGCCATACTCCATTCTCTTAAATTTAACCGGGAACGAATTACTTACTGTCATCTACCTTTCCAGAGTAAATGGCTTTATGTTGGAACAGAA
AGAGGAAATACACATATTGTAAATATTGAATCTTTCATTCTTTCTGGATATGTTATCATGTGGAACAAGGCAATTGAACTATCCACTAAGACTCATCCAGGTCCA
GTTGTACATTTAAGCGATAGCCCAAGAGATGAAGGCAAACTGCTAATAGGTTATGAAAATGGTACTGTAGTATTCTGGGACTTGAAATCTAAAAGAGCAGAACTG
AGAGTTTATTATGATGAGGCTATTCATTCAATTGATTGGCATCATGAGGGCAAACAGTTCATGTGCAGCCATTCAGATGGTAGTTTGACTTTATGGAACCTGAAA
AGCCCAAGTCGCCCTTTCCAGACCACAATTCCACATGGAAAAAGTCAAAGAGAAGGAAGAAAATCTGAATCTTGTAAACCAATTCTTAAAGTAGAATACAAGACC
TGCAAAAACAGCGAACCATTCATAATATTCTCTGGTGGGCTGTCCTATGACAAAGCTTGTAGAAGACCAAGTTTAACCATCATGCATGGAAAAGCAATTACAGTA
CTTGAAATGGATCATCCTATTGTTGAATTTCTAACTTTATGTGAAACGCCCTATCCAAATGAATTTCAAGAACCCTATGCTGTCGTGGTACTTCTGGAGAAAGAT
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>STXBP5L|9515|protein
MKKFNFRKVLDGLTASSPGSGSSSGSNSGGGAGSGSVHPAGTAGVLREEIQETLTSEYFQICKTVRHGFPHQPTALAFDPVQKILAIGTRTGAIRILGRPGVDCY
CQHESGAAVLQLQFLINEGALVSASSDDTLHLWNLRQKRPAILHSLKFNRERITYCHLPFQSKWLYVGTERGNTHIVNIESFILSGYVIMWNKAIELSTKTHPGP
VVHLSDSPRDEGKLLIGYENGTVVFWDLKSKRAELRVYYDEAIHSIDWHHEGKQFMCSHSDGSLTLWNLKSPSRPFQTTIPHGKSQREGRKSESCKPILKVEYKT
CKNSEPFIIFSGGLSYDKACRRPSLTIMHGKAITVLEMDHPIVEFLTLCETPYPNEFQEPYAVVVLLEKDLIVVDLTQSNFPIFENPYPMDIHESPVTCTAYFAD
CPPDLILVLYSIGVKHKKQGYSNKEWPISGGAWNLGAQTYPEIIITGHADGSIKFWDASAITLQMLYKLKTSKVFEKQKVGEGKQTCEIVEEDPFAIQMIYWCPE
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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 (1) 0 (0) 0 (0) 0 (0) 0 (3) 0 (0) 0 (0) 0 (0) 0 (4)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top