AutismKB 2.0

Evidence Details for GSDMB


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Basic Information Top
Gene Symbol:GSDMB ( GSDML,PRO2521 )
Gene Full Name: gasdermin B
Band: 17q21.1
Quick LinksEntrez ID:55876; OMIM: 611221; Uniprot ID:GSDMB_HUMAN; ENSEMBL ID: ENSG00000073605; HGNC ID: 23690
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>GSDMB|55876|nucleotide
ATGTTCAGCGTATTTGAGGAAATCACAAGAATTGTAGTTAAGGAGATGGATGCTGGAGGGGATATGATTGCCGTTAGAAGCCTTGTTGATGCTGATAGATTCCGC
TGCTTCCATCTGGTGGGGGAGAAGAGAACTTTCTTTGGATGCCGGCACTACACAACAGGCCTCACCCTGATGGACATTCTGGACACAGATGGGGACAAGTGGTTA
GATGAACTGGATTCTGGGCTCCAAGGTCAAAAGGCTGAGTTTCAAATTCTGGATAATGTAGACTCAACGGGAGAGTTGATAGTGAGATTACCCAAAGAAATAACA
ATTTCAGGCAGTTTCCAGGGCTTCCACCATCAGAAAATCAAGATATCGGAGAACCGGATATCCCAGCAGTATCTGGCTACCCTTGAAAACAGGAAGCTGAAGAGG
GAACTACCCTTTTCATTCCGATCAATTAATACGAGAGAAAACCTGTATCTGGTGACAGAAACTCTGGAGACGGTAAAGGAGGAAACCCTGAAAAGCGACCGGCAA
TATAAATTTTGGAGCCAGATCTCTCAGGGCCATCTCAGCTATAAACACAAGGGCCAAAGGGAAGTGACCATCCCCCCAAATCGGGTCCTGAGCTATCGAGTAAAG
CAGCTTGTCTTCCCCAACAAGGAGACGATGAAGAAGGATGGTGCTTCATCCTGTTTAGGAAAGTCTTTGGGTTCGGAGGATTCCAGAAACATGAAGGAGAAGTTG
GAGGACATGGAGAGTGTCCTCAAGGACCTGACAGAGGAGAAGAGAAAAGATGTGCTAAACTCCCTCGCTAAGTGCCTCGGCAAGGAGGATATTCGGCAGGATCTA
GAGCAAAGAGTATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACCCAGACAAGCCTCTCCTAAGCAGCCTTTTTAATGCTGCTGGGGTCTTGGTAGAA
GCGCGTGCAAAAGCCATTCTGGACTTCCTGGATGCCCTGCTAGAGCTGTCTGAAGAGCAGCAGTTTGTGGCTGAGGCCCTGGAGAAGGGGACCCTTCCTCTGTTG
AAGGACCAGGTGAAATCTGTCATGGAGCAGAACTGGGATGAGCTGGCCAGCAGTCCTCCTGACATGGACTATGACCCTGAGGCACGAATTCTCTGTGCGCTGTAT
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>GSDMB|55876|protein
MFSVFEEITRIVVKEMDAGGDMIAVRSLVDADRFRCFHLVGEKRTFFGCRHYTTGLTLMDILDTDGDKWLDELDSGLQGQKAEFQILDNVDSTGELIVRLPKEIT
ISGSFQGFHHQKIKISENRISQQYLATLENRKLKRELPFSFRSINTRENLYLVTETLETVKEETLKSDRQYKFWSQISQGHLSYKHKGQREVTIPPNRVLSYRVK
QLVFPNKETMKKDGASSCLGKSLGSEDSRNMKEKLEDMESVLKDLTEEKRKDVLNSLAKCLGKEDIRQDLEQRVSEVLISGELHMEDPDKPLLSSLFNAAGVLVE
ARAKAILDFLDALLELSEEQQFVAEALEKGTLPLLKDQVKSVMEQNWDELASSPPDMDYDPEARILCALYVVVSILLELAEGPTSVSS

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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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Gai, 2011 AGRE SNP microarray--autism - - - - 1224 3801 5025
Linkage Studies Top