mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us

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 ASAP1
Gene summary
Basic gene Info.Gene symbolASAP1
Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 1
SynonymsAMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14P
CytomapUCSC genome browser: 8q24.1-q24.2
Type of geneprotein-coding
RefGenesNM_001247996.1,
NM_018482.3,
Description130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosylation factor-directed GTPase-activating protein 1ARF GTPase-activating
Modification date20141222
dbXrefs MIM : 605953
HGNC : HGNC
Ensembl : ENSG00000153317
HPRD : 05809
Vega : OTTHUMG00000164772
ProteinUniProt: Q9ULH1
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ASAP1
BioGPS: 50807
PathwayNCI Pathway Interaction Database: ASAP1
KEGG: ASAP1
REACTOME: ASAP1
Pathway Commons: ASAP1
ContextiHOP: ASAP1
ligand binding site mutation search in PubMed: ASAP1
UCL Cancer Institute: ASAP1
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


Top
Ligand binding site mutations for ASAP1
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
W1104W1104CHNSC1
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.


Top
Protein structure related information for ASAP1
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
W1104W1104C-0.99673959
(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 ASAP1 from PDB

Top
Differential gene expression and gene-gene network for ASAP1
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 ASAP1 and the right PPI network was created from samples without mutations in the LBS of ASAP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for ASAP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Top
Pharmacological information for ASAP1
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 ASAP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (CYS,ILE,ILE,SER,ALA,MET,PRO,THR,LYS,SER,SER,ARG,LYS,ALA,LYS,LYS,PRO,ALA,GLN)2rquAW1104


Top
Conservation information for LBS of ASAP1
Multiple alignments for Q9ULH1 in multiple species
LBSAA sequence# speciesSpecies
C1078KTIYDCQADND4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D1077VKTIYDCQADN4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D1081YDCQADNDDEL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D1084QADNDDELTFI3Homo sapiens, Mus musculus, Rattus norvegicus
D1084QADNDDELTFM1Bos taurus
D1101VTGEEDQEWWI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E1085ADNDDELTFIE3Homo sapiens, Mus musculus, Rattus norvegicus
E1085ADNDDELTFME1Bos taurus
E1090ELTFIEGEVII3Homo sapiens, Mus musculus, Rattus norvegicus
E1090ELTFMEGEVIV1Bos taurus
E1100IVTGEEDQEWW3Homo sapiens, Mus musculus, Rattus norvegicus
E1100VVTGEEDQEWW1Bos taurus
E1103GEEDQEWWIGH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
F1123VFPVSFVHILS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
I1075RRVKTIYDCQA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
N1082DCQADNDDELT4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q1079TIYDCQADNDD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S1122GVFPVSFVHIL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V1118PERKGVFPVSF4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
W1104EEDQEWWIGHI4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y1076RVKTIYDCQAD4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas