Evidence Detail for GZMB 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 Links Entrez ID:3002 ; OMIM: 123910 ; Uniprot ID:GRAB_HUMAN ; ENSEMBL ID: ENSG00000100453
>GZMB|3002|nucleotide
ATGCAACCAATCCTGCTTCTGCTGGCCTTCCTCCTGCTGCCCAGGGCAGATGCAGGGGAGATCATCGGGGGACATGAGGCCAAGCCCCACTCCCGCCCCTACATG
GCTTATCTTATGATCTGGGATCAGAAGTCTCTGAAGAGGTGCGGTGGCTTCCTGATACGAGACGACTTCGTGCTGACAGCTGCTCACTGTTGGGGAAGCTCCATA
AATGTCACCTTGGGGGCCCACAATATCAAAGAACAGGAGCCGACCCAGCAGTTTATCCCTGTGAAAAGACCCATCCCCCATCCAGCCTATAATCCTAAGAACTTC
TCCAACGACATCATGCTACTGCAGCTGGAGAGAAAGGCCAAGCGGACCAGAGCTGTGCAGCCCCTCAGGCTACCTAGCAACAAGGCCCAGGTGAAGCCAGGGCAG
ACATGCAGTGTGGCCGGCTGGGGGCAGACGGCCCCCCTGGGAAAACACTCACACACACTACAAGAGGTGAAGATGACAGTGCAGGAAGATCGAAAGTGCGAATCT
GACTTACGCCATTATTACGACAGTACCATTGAGTTGTGCGTGGGGGACCCAGAGATTAAAAAGACTTCCTTTAAGGGGGACTCTGGAGGCCCTCTTGTGTGTAAC
AAGGTGGCCCAGGGCATTGTCTCCTATGGACGAAACAATGGCATGCCTCCACGAGCCTGCACCAAAGTCTCAAGCTTTGTACACTGGATAAAGAAAACCATGAAA
CGCTACTAA
« Hide >GZMB|3002|protein
MQPILLLLAFLLLPRADAGEIIGGHEAKPHSRPYMAYLMIWDQKSLKRCGGFLIRDDFVLTAAHCWGSSINVTLGAHNIKEQEPTQQFIPVKRPIPHPAYNPKNF
SNDIMLLQLERKAKRTRAVQPLRLPSNKAQVKPGQTCSVAGWGQTAPLGKHSHTLQEVKMTVQEDRKCESDLRHYYDSTIELCVGDPEIKKTSFKGDSGGPLVCN
KVAQGIVSYGRNNGMPPRACTKVSSFVHWIKKTMKRY
« Hide 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 .Syndromic Autism Gene
Top Low Scale Association Studies (by Ethnic Group)
Top Family Based Association Studies: 0
Reference
Population
#SNPs/ #VNTRs
#Families
Affecteds
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
No Evidence.
Case Control Based Association Studies: 0
Reference
Population
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
#Subjects
Age
No Evidence.
Genome-Wide Association Studies(By Ethnic Group)
Top Family Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
#Families
Affecteds
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
No Evidence.
Case Control Based Association Studies: 0
Reference
Stage
#SNPs/ #VNTRs
ASD Cases
Normal Controls
Result
#Subjects
ADI-R
ADOS
Diagnosis
Age
IQ
#Subjects
Age
No Evidence.
Other Low Scale Gene Studies
Top
Reference
Orangnism
Tissue
ADI-R
ADOS
Diagnosis
Evidence Level
Result
Enstrom, 2009_1 human
NK cell ASD
protein expression Positive
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
ADI-R
ADOS
Endo- pheno
Diagnosis
Normal Controls
Fold Change
Up/ Down
P/Q value
Gregg, 2008_1 mixed
lymphoblastoid cell lines
35 autism autism
12
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 autism with early onset autism
12
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 autism with regression autism
12
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
ADI-R
ADOS
Diagnosis
Normal Controls(% Women)
No Evidence.
CNV Studies
Top
CNV Name
Chr
Band
Gain/Loss
Number of CNVs
Evidence Type
Reference
Case
Control
No matched CNVs !
Linkage 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.
Basic Information Top
Syndromic Autism Gene Top
