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 PRPF31
Gene summary
Basic gene Info.Gene symbolPRPF31
Gene namepre-mRNA processing factor 31
SynonymsNY-BR-99|PRP31|RP11|SNRNP61
CytomapUCSC genome browser: 19q13.42
Type of geneprotein-coding
RefGenesNM_015629.3,
DescriptionPRP31 pre-mRNA processing factor 31 homologU4/U6 small nuclear ribonucleoprotein Prp31U4/U6 snRNP 61 kDa proteinhPrp31pre-mRNA-processing factor 31protein 61Kserologically defined breast cancer antigen NY-BR-99
Modification date20141219
dbXrefs MIM : 606419
HGNC : HGNC
Ensembl : ENSG00000105618
HPRD : 05917
Vega : OTTHUMG00000066040
ProteinUniProt: Q8WWY3
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_PRPF31
BioGPS: 26121
PathwayNCI Pathway Interaction Database: PRPF31
KEGG: PRPF31
REACTOME: PRPF31
Pathway Commons: PRPF31
ContextiHOP: PRPF31
ligand binding site mutation search in PubMed: PRPF31
UCL Cancer Institute: PRPF31
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
GO:0000244spliceosomal tri-snRNP complex assembly11867543
GO:0000398mRNA splicing, via spliceosome11867543


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Ligand binding site mutations for PRPF31

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
A297A297TCOAD1
P269P269SGBM1
H270G272DLUSC1
V234V234LSKCM1
D322L320PUCEC1
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 PRPF31
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
A297A297T-1.5187604
D322L320P-1.387653
P269P269S-1.2029236
H270G272D-0.92411884
V234V234L-0.70286841
(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 PRPF31 from PDB

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Differential gene expression and gene-gene network for PRPF31
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 PRPF31 and the right PPI network was created from samples without mutations in the LBS of PRPF31. 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 PRPF31
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0035334Retinitis Pigmentosa27Biomarker, GeneticVariation
umls:C1838601Retinitis Pigmentosa 112Biomarker, GeneticVariation

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

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Pharmacological information for PRPF31
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 PRPF31 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)2ozbED322
NUCNucleic Acids3siuBP269 H270 A297
NUCNucleic Acids3sivBP269 H270 A297
NUCNucleic Acids3sivEP269 H270 A297
NUCNucleic Acids3sivHP269 H270 A297
NUCNucleic Acids3sivKP269 H270 A297
NUCNucleic Acids3sivBV234 H270
NUCNucleic Acids3sivEV234 H270
NUCNucleic Acids3sivHV234 H270
NUCNucleic Acids3sivKV234 H270
NUCNucleic Acids2ozbBV234 H270 A297
NUCNucleic Acids2ozbEV234 H270 A297
NUCNucleic Acids3siuEV234 H270 A297


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Conservation information for LBS of PRPF31
Multiple alignments for Q8WWY3 in multiple species
LBSAA sequence# speciesSpecies
A297ARLVAAKCTLA2Homo sapiens, Mus musculus
A297ARLVSAKCTLA2Danio rerio, Xenopus tropicalis
A297IRMTAAKVALA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C247SKMPACNIMLL2Homo sapiens, Mus musculus
C247GKFPACNLPAL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
C247SKMPACNLMLL1Danio rerio
C247SKMPACNVMLL1Xenopus tropicalis
D322GYELKDEIERK2Homo sapiens, Mus musculus
D322GYDLKEEIERK2Danio rerio, Xenopus tropicalis
D322GISARKEVERK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E325LKDEIERKFDK2Homo sapiens, Mus musculus
E325LKEEIERKFDK2Danio rerio, Xenopus tropicalis
E325ARKEVERKIEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H270TSVLPHTGYIY3Homo sapiens, Xenopus tropicalis, Mus musculus
H270PAVSGDYGFLY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H270TSLLPHTGYIY1Danio rerio
K290PDLRRKAARLV3Homo sapiens, Danio rerio, Mus musculus
K290PDVRKQAIRMT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K290PDLHRKAARLV1Xenopus tropicalis
K298RLVAAKCTLAA2Homo sapiens, Mus musculus
K298RMTAAKVALAA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K298RLVSAKCTLAS1Danio rerio
K298RLVSAKCTLAA1Xenopus tropicalis
K327DEIERKFDKWQ2Homo sapiens, Mus musculus
K327EEIERKFDKWQ2Danio rerio, Xenopus tropicalis
K327KEVERKIEKLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K330ERKFDKWQEPP4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
K330ERKIEKLLEPP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L251ACNIMLLGAQR2Homo sapiens, Mus musculus
L251ACNLPALGKRR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L251ACNLMLLGAQR1Danio rerio
L251ACNVMLLGAQR1Xenopus tropicalis
L301AAKCTLAARVD2Homo sapiens, Mus musculus
L301AAKVALAARID1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L301SAKCTLASRVD1Danio rerio
L301SAKCTLAARVD1Xenopus tropicalis
M244TNLSKMPACNI2Homo sapiens, Mus musculus
M244TRLGKFPACNL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M244TNLSKMPACNL1Danio rerio
M244TNLSKMPACNV1Xenopus tropicalis
M250PACNIMLLGAQ2Homo sapiens, Mus musculus
M250PACNLPALGKR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M250PACNLMLLGAQ1Danio rerio
M250PACNVMLLGAQ1Xenopus tropicalis
N248KMPACNIMLLG2Homo sapiens, Mus musculus
N248KFPACNLPALG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N248KMPACNLMLLG1Danio rerio
N248KMPACNVMLLG1Xenopus tropicalis
P269STSVLPHTGYI3Homo sapiens, Xenopus tropicalis, Mus musculus
P269NPAVSGDYGFL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P269STSLLPHTGYI1Danio rerio
R289PPDLRRKAARL3Homo sapiens, Danio rerio, Mus musculus
R289PPDVRKQAIRM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R289PPDLHRKAARL1Xenopus tropicalis
R293RRKAARLVAAK2Homo sapiens, Mus musculus
R293RKQAIRMTAAK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R293RRKAARLVSAK1Danio rerio
R293HRKAARLVSAK1Xenopus tropicalis
V234AKIMGVAGGLT3Homo sapiens, Danio rerio, Mus musculus
V234ANLIGIAGGLT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V234AKIMGIAGGLT1Xenopus tropicalis


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