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 U2AF1
Gene summary
Basic gene Info.Gene symbolU2AF1
Gene nameU2 small nuclear RNA auxiliary factor 1
CytomapUCSC genome browser: 21q22.3
Type of geneprotein-coding
DescriptionU2 small nuclear RNA auxillary factor 1U2 small nuclear ribonucleoprotein auxillary factor, 35-KD subunitU2 snRNP auxiliary factor small subunitU2(RNU2) small nuclear RNA auxiliary factor binding proteinsplicing factor U2AF 35 kDa subunitsplicing fac
Modification date20141207
dbXrefs MIM : 191317
Ensembl : ENSG00000160201
HPRD : 01871
Vega : OTTHUMG00000086836
ProteinUniProt: Q01081
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_U2AF1
BioGPS: 7307
PathwayNCI Pathway Interaction Database: U2AF1
Pathway Commons: U2AF1
ContextiHOP: U2AF1
ligand binding site mutation search in PubMed: U2AF1
UCL Cancer Institute: U2AF1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for U2AF1
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
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 U2AF1
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 U2AF1 from PDB

Differential gene expression and gene-gene network for U2AF1
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 U2AF1 and the right PPI network was created from samples without mutations in the LBS of U2AF1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for U2AF1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0026986Myelodysplastic Syndromes6Biomarker
umls:C0019693HIV Infections1Biomarker

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

Pharmacological information for U2AF1
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 U2AF1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of U2AF1
Multiple alignments for Q01081 in multiple species
LBSAA sequence# speciesSpecies
E80QEHYDEFFEEV2Homo sapiens, Homo sapiens
E80QADFEDFYEDI1Oryza sativa subsp. japonica
E80QEHFEDFYEDI1Oryza sativa subsp. japonica
E80QEHFEDFFEDL1Arabidopsis thaliana
E80QDHFEDFYEDI1Arabidopsis thaliana
E84DEFFEEVFTEM2Homo sapiens, Homo sapiens
E84EDFYEDIFEEL2Oryza sativa subsp. japonica, Arabidopsis thaliana
E84EDFYEDIYEEL1Oryza sativa subsp. japonica
E84EDFFEDLFEEL1Arabidopsis thaliana
E88EEVFTEMEEKY2Homo sapiens, Homo sapiens
E88EDIFEEL-SKY1Oryza sativa subsp. japonica
E88EDIYEEL-SKF1Oryza sativa subsp. japonica
E88EDLFEEL-GKF1Arabidopsis thaliana
E88EDIFEEL-NKF1Arabidopsis thaliana
F135LQGRFYSGRPI3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
F135LNNRWFNGQPI2Homo sapiens, Homo sapiens
F135LTGRYYSGRPI1Oryza sativa subsp. japonica
G137NRWFNGQPIHA2Homo sapiens, Homo sapiens
G137GRFYSGRPIIA2Arabidopsis thaliana, Arabidopsis thaliana
G137GRYYSGRPIIV1Oryza sativa subsp. japonica
G137GRFYSGRPIIV1Oryza sativa subsp. japonica
H141NGQPIHAELSP2Homo sapiens, Homo sapiens
H141SGRPIIADFSP2Arabidopsis thaliana, Arabidopsis thaliana
H141SGRPIIVEFSP1Oryza sativa subsp. japonica
H141SGRPIIVEYSP1Oryza sativa subsp. japonica
H77VEMQEHYDEFF2Homo sapiens, Homo sapiens
H77EKIQADFEDFY1Oryza sativa subsp. japonica
H77EKMQEHFEDFY1Oryza sativa subsp. japonica
H77RKIQEHFEDFF1Arabidopsis thaliana
H77SKIQDHFEDFY1Arabidopsis thaliana
I140FNGQPIHAELS2Homo sapiens, Homo sapiens
I140YSGRPIIADFS2Arabidopsis thaliana, Arabidopsis thaliana
I140YSGRPIIVEFS1Oryza sativa subsp. japonica
I140YSGRPIIVEYS1Oryza sativa subsp. japonica
L130KAVIDLNNRWF2Homo sapiens, Homo sapiens
L130AALQALQGRFY2Arabidopsis thaliana, Arabidopsis thaliana
L130RALQALTGRYY1Oryza sativa subsp. japonica
L130AAHNALQGRFY1Oryza sativa subsp. japonica
M89EVFTEMEEKYG2Homo sapiens, Homo sapiens
M89DIFEEL-SKYG1Oryza sativa subsp. japonica
M89DIYEEL-SKFG1Oryza sativa subsp. japonica
M89DLFEEL-GKFG1Arabidopsis thaliana
M89DIFEEL-NKFG1Arabidopsis thaliana
N131AVIDLNNRWFN2Homo sapiens, Homo sapiens
N131ALQALQGRFYS2Arabidopsis thaliana, Arabidopsis thaliana
N131ALQALTGRYYS1Oryza sativa subsp. japonica
N131AHNALQGRFYS1Oryza sativa subsp. japonica
N132VIDLNNRWFNG2Homo sapiens, Homo sapiens
N132LQALQGRFYSG2Arabidopsis thaliana, Arabidopsis thaliana
N132LQALTGRYYSG1Oryza sativa subsp. japonica
N132HNALQGRFYSG1Oryza sativa subsp. japonica
N136QGRFYSGRPII3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
N136NNRWFNGQPIH2Homo sapiens, Homo sapiens
N136TGRYYSGRPII1Oryza sativa subsp. japonica
P139WFNGQPIHAEL2Homo sapiens, Homo sapiens
P139FYSGRPIIADF2Arabidopsis thaliana, Arabidopsis thaliana
P139YYSGRPIIVEF1Oryza sativa subsp. japonica
P139FYSGRPIIVEY1Oryza sativa subsp. japonica
R133IDLNNRWFNGQ2Homo sapiens, Homo sapiens
R133QALQGRFYSGR2Arabidopsis thaliana, Arabidopsis thaliana
R133QALTGRYYSGR1Oryza sativa subsp. japonica
R133NALQGRFYSGR1Oryza sativa subsp. japonica
W134ALQGRFYSGRP3Oryza sativa subsp. japonica, Arabidopsis thaliana, Arabidopsis thaliana
W134DLNNRWFNGQP2Homo sapiens, Homo sapiens
W134ALTGRYYSGRP1Oryza sativa subsp. japonica

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