mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 STAP1
Gene summary
Basic gene Info.Gene symbolSTAP1
Gene namesignal transducing adaptor family member 1
SynonymsBRDG1|STAP-1
CytomapUCSC genome browser: 4q13.2
Type of geneprotein-coding
RefGenesNM_012108.2,
DescriptionBCR downstream signaling 1BCR downstream-signaling protein 1docking protein BRDG1signal-transducing adaptor protein 1signal-transducing adaptor protein-1stem cell adaptor protein 1
Modification date20141207
dbXrefs MIM : 604298
HGNC : HGNC
Ensembl : ENSG00000035720
HPRD : 16053
Vega : OTTHUMG00000129304
ProteinUniProt: Q9ULZ2
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_STAP1
BioGPS: 26228
PathwayNCI Pathway Interaction Database: STAP1
KEGG: STAP1
REACTOME: STAP1
Pathway Commons: STAP1
ContextiHOP: STAP1
ligand binding site mutation search in PubMed: STAP1
UCL Cancer Institute: STAP1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID


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Ligand binding site mutations for STAP1
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
R261G262ESKCM2
I219D220HBRCA1
R184R184QCOAD1
Q217I215TGBM1
R184R184LLUAD1
R184R184GLUAD1
Y255I253VSTAD1
I219,Q217E218DUCEC1
K225R223IUCEC1
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 STAP1
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
R261G262E0.099734634
Q217E218D-1.3198117
I219E218D-1.3198117
Q217I215T-1.1173415
R184R184G-1.0437093
Y255I253V-0.98674001
R184R184Q-0.95585607
I219D220H-0.90463703
K225R223I-0.50386043
R184R184L-0.30348713
(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 STAP1 from PDB
PDB IDPDB titlePDB structure
3MAZCrystal Structure of the Human BRDG1/STAP-1 SH2 Domain in Complex with the NTAL pTyr136 Peptide

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Differential gene expression and gene-gene network for STAP1
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 STAP1 and the right PPI network was created from samples without mutations in the LBS of STAP1. 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 STAP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for STAP1
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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of STAP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASN,SER,TYR,GLU,ASN,VAL,LEU,ILE,ALA,LYS,NH2)3mazAR184 Q217 I219 K225 Y255 R261


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Conservation information for LBS of STAP1
Multiple alignments for Q9ULZ2 in multiple species
LBSAA sequence# speciesSpecies


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