AutismKB

Evidence Detail for GZMB


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Basic Information Top
Gene Symbol:GZMB ( CCPI,CGL-1,CGL1,CSP-B,CSPB,CTLA1,CTSGL1,HLP,SECT )
Gene Full Name: granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
Band: 14q11.2
Quick LinksEntrez ID:3002; OMIM: 123910; Uniprot ID:GRAB_HUMAN; ENSEMBL ID: ENSG00000100453
Sequences Top
>GZMB|3002|nucleotide
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>GZMB|3002|protein
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Evidence Statistic 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 Expression CNV Linkage Low Scale Association Other Studies Total
Score (No. of Studies) No 0 (0) 3 (3) 0 (0) 1 (3) 0 (0) 1 (1) 11 (7)
Syndromic Autism Gene Top
Low Scale Association Studies (by Ethnic Group) Top
Genome-Wide Association Studies(By Ethnic Group) Top
Other Low Scale Gene Studies Top
Reference Orangnism Tissue ADI-R ADOS Diagnosis Evidence Level Result
Enstrom, 2009_1 human NK cellASD protein expression
  • Subjects: 17
  • Normal Controls: -
  • Methods: NK cytotoxicity assay
  • Evidence Details: Under similar stimulation conditions the presence of perforin, granzyme B, and IFNc in NK cells from ASD children was significantly lower compared with controls (p < 0.001).
Large Scale Expression Studies Top
Microarray Studies: 3
Reference Population Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Gregg, 2008_1 mixed lymphoblastoid cell lines 35
(14.29%)
autismautism 12
(25.00%)
2.014 Up 0.0213
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 210164_at
  • RefSeq_ID/ EST: J03189
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Gregg, 2008_2 mixed lymphoblastoid cell lines 17
(11.76%)
autism with early onset autism 12
(25.00%)
2.173 Up 0.0375
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 210164_at
  • RefSeq_ID/ EST: J03189
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Gregg, 2008_3 mixed lymphoblastoid cell lines 18
(16.67%)
autism with regression autism 12
(25.00%)
1.867 Up 0.0491
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 210164_at
  • RefSeq_ID/ EST: J03189
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
Proteomics Studies:0
Reference Population Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
CNV Studies Top
Linkage Studies Top
Linkage Name Band Chr Marker LOD NPL P_Value Reference
AutLD0000025 14q12 14 D14S80 2.32 - - Bailey, 1998
AutLD0000043 14q12 14 D14S297 1.6 - - Auranen, 2002
AutLD0000103 14q12 14 rs2877739 2.82 - - Ma, 2007

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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 616
  • Genes: 3,075
  • SNPs/VNTRs: 3,386
  • CNVs: 4,617
  • Linkage Regions: 158
  • Last Update: 05/25/2012
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