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 GGA1
Gene summary
Basic gene Info.Gene symbolGGA1
Gene namegolgi-associated, gamma adaptin ear containing, ARF binding protein 1
Synonyms-
CytomapUCSC genome browser: 22q13.31
Type of geneprotein-coding
RefGenesNM_001001560.2,
NM_001172687.1,NM_001172688.1,NM_013365.4,NM_001001561.2,
DescriptionADP-ribosylation factor binding protein 1ADP-ribosylation factor-binding protein GGA1gamma-adaptin related protein 1gamma-adaptin-related protein 1golgi associated, gamma adaptin ear containing, ARF binding protein 1golgi-localized, gamma ear-contain
Modification date20141207
dbXrefs MIM : 606004
HGNC : HGNC
Ensembl : ENSG00000100083
HPRD : 12078
Vega : OTTHUMG00000030985
ProteinUniProt: Q9UJY5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GGA1
BioGPS: 26088
PathwayNCI Pathway Interaction Database: GGA1
KEGG: GGA1
REACTOME: GGA1
Pathway Commons: GGA1
ContextiHOP: GGA1
ligand binding site mutation search in PubMed: GGA1
UCL Cancer Institute: GGA1
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 GGA1
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
K131I132MHNSC1
R89R89CLAML1
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 GGA1
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
R89R89C-0.72993807
K131I132M-0.54852478
(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 GGA1 from PDB

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Differential gene expression and gene-gene network for GGA1
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 GGA1 and the right PPI network was created from samples without mutations in the LBS of GGA1. 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 GGA1
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 GGA1
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 GGA1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (ASP,GLU,ASP,LEU,LEU,HIS,ILE)1jwgAR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1py1AR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1py1BR89 K131
IIIPeptide ligand (ASP,ILE,SER,LEU,LEU,LYS)1py1CR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1py1DR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1ujjAR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1ujkAR89 K131
IIIPeptide ligand (ASP,ASP,ILE,SER,LEU,LEU,LYS)1ujkBR89 K131
IIIPeptide ligand (GLY,PHE,SER,ASP,ASP,VAL,PRO,MET,VAL,ILE,ALA)3g2sAR89 K131
IIIPeptide ligand (GLY,PHE,SER,ASP,ASP,VAL,PRO,MET,VAL,ILE,ALA)3g2sBR89 K131
IIIPeptide ligand (SER,ASP,ASP,VAL,PRO,MET,VAL,ILE,ALA)3g2tAR89 K131
IIIPeptide ligand (SER,ASP,ASP,VAL,PRO,MET,VAL,ILE,ALA)3g2tBR89 K131
IIIPeptide ligand (SER,ASP,GLU,ASP,LEU,LEU,GLU)3g2uAR89 K131
IIIPeptide ligand (SER,ASP,GLU,ASP,LEU,LEU,GLU)3g2uBR89 K131
IIIPeptide ligand (ASP,ASP,SER,ASP,GLU,ASP,LEU,LEU,GLU)3g2vAR89 K131
IIIPeptide ligand (SER,ASP,GLU,ASP,LEU,LEU,GLU)3g2vBR89 K131
IIIPeptide ligand (LEU,LEU,ASP,ASP,GLU,LEU,MET,SER,LEU)3g2wAR89 K131
IIIPeptide ligand (LEU,LEU,ASP,ASP,GLU,LEU,MET,SER)3g2wBR89 K131


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Conservation information for LBS of GGA1
Multiple alignments for Q9UJY5 in multiple species
LBSAA sequence# speciesSpecies


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