mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ZAP70
Gene summary
Basic gene Info.Gene symbolZAP70
Gene namezeta-chain (TCR) associated protein kinase 70kDa
SynonymsSRK|STCD|STD|TZK|ZAP-70
CytomapUCSC genome browser: 2q12
Type of geneprotein-coding
RefGenesNM_001079.3,
NM_207519.1,
Description70 kDa zeta-associated protein70 kDa zeta-chain associated proteinsyk-related tyrosine kinasetyrosine-protein kinase ZAP-70zeta-chain associated protein kinase, 70kD
Modification date20141221
dbXrefs MIM : 176947
HGNC : HGNC
Ensembl : ENSG00000115085
HPRD : 01495
Vega : OTTHUMG00000153060
ProteinUniProt: P43403
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ZAP70
BioGPS: 7535
PathwayNCI Pathway Interaction Database: ZAP70
KEGG: ZAP70
REACTOME: ZAP70
Pathway Commons: ZAP70
ContextiHOP: ZAP70
ligand binding site mutation search in PubMed: ZAP70
UCL Cancer Institute: ZAP70
Assigned class in mutLBSgeneDBA: This gene has a literature evidence and it belongs to targetable_mutLBSgenes.
References showing study about ligand binding site mutation for ZAP70.1. "Lappalainen I, Thusberg J, Shen B, Vihinen M. Genome wide analysis of pathogenic SH2 domain mutations. Proteins. 2008 Aug;72(2):779-92. doi: 10.1002/prot.21970." 18260110

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006468protein phosphorylation12447358
GO:0006955immune response1423621
GO:0018108peptidyl-tyrosine phosphorylation22732588
GO:0045059positive thymic T cell selection7630421
GO:0045582positive regulation of T cell differentiation7630421


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Ligand binding site mutations for ZAP70
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
 
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
M161R160QCOAD1
G347G347SGBM1
R465A463VLUAD1
C117,A121R119QLUSC1
P421P421QLUSC1
K369L371MLUSC1
R190,R192P191LLUSC1
G226T227ISKCM1
M414M414ISKCM1
Y209Y209HSTAD1
R37R37HSTAD1
M161E159KSTAD1
R465R465HUCEC1
M414V413IUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for ZAP70
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
M161R160Q-1.5694488
R37R37H-1.2337124
K369L371M-1.1647872
M414V413I-1.1371458
R465R465H-1.0907289
C117R119Q-1.0317888
A121R119Q-1.0317888
Y209Y209H-1.0118899
G226T227I-0.97557272
P421P421Q-0.6655316
R190P191L-0.64710427
R192P191L-0.64710427
M161E159K-0.60716525
G347G347S-0.59959639
R465A463V-0.39317114
M414M414I-0.027824769
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for ZAP70 from PDB

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Differential gene expression and gene-gene network for ZAP70
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of ZAP70 and the right PPI network was created from samples without mutations in the LBS of ZAP70. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for ZAP70
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0085110Severe Combined Immunodeficiency12Biomarker
umls:C2931299ZAP70 deficiency6Biomarker, GeneticVariation
umls:C0021051Immunologic Deficiency Syndromes1Biomarker
umls:C2931320T cell immunodeficiency primary1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs
28296R465HPathogenicGermlineGeneReviews:NBK20221
MedGen:C1849236
OMIM:269840
Orphanet:ORPHA911

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Pharmacological information for ZAP70
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02010StaurosporineSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ZAP70 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
4N51-(3-{5-[(3-CHLOROBENZYL)SULFONYL]-1H-TETRAZOL-1- YL}PHENYL)ETHANONE4xz0AC117 A121 M161
ANPAMP-PNP4k2rAG347 K369 M414 P421 R465
ANPAMP-PNP2ozoAG347 K369 P421 R465
STUSTAUROSPORINE1u59AM414 P421 R465
IIIPeptide ligand (ASN,GLN,LEU,TYR,ASN,GLU,LEU,ASN,LEU,GLY,ARG,ARG,GLU,GLU,TYR,ASP,VAL,LEU,ASP)2oq1AR192
MGMAGNESIUM(2+)4k2rAR465


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Conservation information for LBS of ZAP70
Multiple alignments for P43403 in multiple species
LBSAA sequence# speciesSpecies


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