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 SUB1
Gene summary
Basic gene Info.Gene symbolSUB1
Gene nameSUB1 homolog (S. cerevisiae)
CytomapUCSC genome browser: 5p13.3
Type of geneprotein-coding
Descriptionactivated RNA polymerase II transcription cofactor 4activated RNA polymerase II transcriptional coactivator p15positive cofactor 4
Modification date20141207
dbXrefs MIM : 600503
Ensembl : ENSG00000113387
HPRD : 02737
Vega : OTTHUMG00000131071
ProteinUniProt: P53999
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SUB1
BioGPS: 10923
PathwayNCI Pathway Interaction Database: SUB1
Pathway Commons: SUB1
ContextiHOP: SUB1
ligand binding site mutation search in PubMed: SUB1
UCL Cancer Institute: SUB1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006357regulation of transcription from RNA polymerase II promoter8062391

Ligand binding site mutations for SUB1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for SUB1
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
(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 SUB1 from PDB

Differential gene expression and gene-gene network for SUB1
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 SUB1 and the right PPI network was created from samples without mutations in the LBS of SUB1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for SUB1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for SUB1
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 SUB1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids2c62AR70 R75 F77 R86
NUCNucleic Acids2c62BR70 R75 F77 R86
NUCNucleic Acids4usgAR70 R75 F77 R86
NUCNucleic Acids4usgBR70 R75 F77 R86

Conservation information for LBS of SUB1
Multiple alignments for P53999 in multiple species
LBSAA sequence# speciesSpecies
D84GKVLIDIREYW2Homo sapiens, Gallus gallus
D84GKILIDIREYW2Mus musculus, Rattus norvegicus
D91REYWMDSEGEM2Mus musculus, Rattus norvegicus
D91REYWMDPEGEM1Homo sapiens
D91REYWMDQEGEM1Gallus gallus
E108ISLNMEQWSQL2Mus musculus, Rattus norvegicus
E108ISLNPEQWSQL1Homo sapiens
E108ISLNPEQWNQL1Gallus gallus
E93YWMDSEGEMKP2Mus musculus, Rattus norvegicus
E93YWMDPEGEMKP1Homo sapiens
E93YWMDQEGEMKP1Gallus gallus
E95MDSEGEMKPGR2Mus musculus, Rattus norvegicus
E95MDPEGEMKPGR1Homo sapiens
E95MDQEGEMKPGR1Gallus gallus
F77VSVRDFKGKVL2Homo sapiens, Gallus gallus
F77VSVRDFKGKIL2Mus musculus, Rattus norvegicus
G102KPGRKGISLNP2Homo sapiens, Gallus gallus
G102KPGRKGISLNM2Mus musculus, Rattus norvegicus
G67NMFQIGKMRYV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
G99GEMKPGRKGIS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
I103PGRKGISLNPE2Homo sapiens, Gallus gallus
I103PGRKGISLNME2Mus musculus, Rattus norvegicus
I83KGKVLIDIREY2Homo sapiens, Gallus gallus
I83KGKILIDIREY2Mus musculus, Rattus norvegicus
K101MKPGRKGISLN4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K68MFQIGKMRYVS4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
K78SVRDFKGKVLI2Homo sapiens, Gallus gallus
K78SVRDFKGKILI2Mus musculus, Rattus norvegicus
K80RDFKGKVLIDI2Homo sapiens, Gallus gallus
K80RDFKGKILIDI2Mus musculus, Rattus norvegicus
K97SEGEMKPGRKG2Mus musculus, Rattus norvegicus
K97PEGEMKPGRKG1Homo sapiens
K97QEGEMKPGRKG1Gallus gallus
L105RKGISLNPEQW2Homo sapiens, Gallus gallus
L105RKGISLNMEQW2Mus musculus, Rattus norvegicus
L82FKGKVLIDIRE2Homo sapiens, Gallus gallus
L82FKGKILIDIRE2Mus musculus, Rattus norvegicus
M69FQIGKMRYVSV4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
M90IREYWMDSEGE2Mus musculus, Rattus norvegicus
M90IREYWMDPEGE1Homo sapiens
M90IREYWMDQEGE1Gallus gallus
N106KGISLNMEQWS2Mus musculus, Rattus norvegicus
N106KGISLNPEQWS1Homo sapiens
N106KGISLNPEQWN1Gallus gallus
P98EGEMKPGRKGI4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
Q109SLNMEQWSQLK2Mus musculus, Rattus norvegicus
Q109SLNPEQWSQLK1Homo sapiens
Q109SLNPEQWNQLK1Gallus gallus
Q112MEQWSQLKEQI2Mus musculus, Rattus norvegicus
Q112PEQWSQLKEQI1Homo sapiens
Q112PEQWNQLKEQI1Gallus gallus
Q65DDNMFQIGKMR3Homo sapiens, Mus musculus, Rattus norvegicus
Q65DENMFQIGKMR1Gallus gallus
R100EMKPGRKGISL4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R70QIGKMRYVSVR4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R75RYVSVRDFKGK4Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus
R86VLIDIREYWMD2Homo sapiens, Gallus gallus
R86ILIDIREYWMD2Mus musculus, Rattus norvegicus
S104GRKGISLNPEQ2Homo sapiens, Gallus gallus
S104GRKGISLNMEQ2Mus musculus, Rattus norvegicus
V81DFKGKVLIDIR2Homo sapiens, Gallus gallus
V81DFKGKILIDIR2Mus musculus, Rattus norvegicus
W89DIREYWMDSEG2Mus musculus, Rattus norvegicus
W89DIREYWMDPEG1Homo sapiens
W89DIREYWMDQEG1Gallus gallus

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