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

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
1.07387 Up 46.4662
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1666206
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.938149 Down 40.9452
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_2347193
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018