mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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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 SNRPA
Gene summary
Basic gene Info.Gene symbolSNRPA
Gene namesmall nuclear ribonucleoprotein polypeptide A
SynonymsMud1|U1-A|U1A
CytomapUCSC genome browser: 19q13.1
Type of geneprotein-coding
RefGenesNM_004596.4,
DescriptionU1 small nuclear RNP-specific AU1 small nuclear ribonucleoprotein AU1 snRNP AU1 snRNP-specific protein A
Modification date20141207
dbXrefs MIM : 182285
HGNC : HGNC
Ensembl : ENSG00000077312
HPRD : 01658
Vega : OTTHUMG00000182689
ProteinUniProt: P09012
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SNRPA
BioGPS: 6626
PathwayNCI Pathway Interaction Database: SNRPA
KEGG: SNRPA
REACTOME: SNRPA
Pathway Commons: SNRPA
ContextiHOP: SNRPA
ligand binding site mutation search in PubMed: SNRPA
UCL Cancer Institute: SNRPA
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 SNRPA
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
K20K20NHNSC1
D24E25DSTAD1
D92D92YUCEC1
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 SNRPA
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
K20K20N-1.5037474
D24E25D-1.3777787
D92D92Y-0.42017639
(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 SNRPA from PDB

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Differential gene expression and gene-gene network for SNRPA
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 SNRPA and the right PPI network was created from samples without mutations in the LBS of SNRPA. 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 SNRPA
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 SNRPA
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB02175Malonic acidSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of SNRPA go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
MGMAGNESIUM(2+)1nu4BD24
NUCNucleic Acids3g8tBD24
MGMAGNESIUM(2+)4pr6AD24
NUCNucleic Acids5ddoCD24
NUCNucleic Acids3g8sBD24 D92
NUCNucleic Acids3g8sCD24 D92
NUCNucleic Acids3g9cBD24 D92
NUCNucleic Acids3g9cDD24 D92
NUCNucleic Acids3l3cBD24 D92
NUCNucleic Acids1cx0AD92
NUCNucleic Acids1m5kCD92
NUCNucleic Acids1m5kFD92
NUCNucleic Acids1m5oCD92
NUCNucleic Acids1m5oFD92
NUCNucleic Acids1m5pFD92
NUCNucleic Acids1m5vCD92
NUCNucleic Acids1m5vFD92
NUCNucleic Acids1sj3PD92
NUCNucleic Acids1sj4PD92
NUCNucleic Acids1sjfAD92
NUCNucleic Acids1u6bAD92
NUCNucleic Acids1urnAD92
NUCNucleic Acids1urnBD92
NUCNucleic Acids1urnCD92
NUCNucleic Acids1vbxAD92
NUCNucleic Acids1vbyAD92
NUCNucleic Acids1vbzAD92
NUCNucleic Acids1vc0AD92
NUCNucleic Acids1vc5AD92
NUCNucleic Acids1vc6AD92
NUCNucleic Acids1vc7AD92
NUCNucleic Acids1zznAD92
NUCNucleic Acids2nz4BD92
NUCNucleic Acids2nz4CD92
NUCNucleic Acids2nz4DD92
NUCNucleic Acids2oihAD92
NUCNucleic Acids2oj3AD92
NUCNucleic Acids3bo2AD92
NUCNucleic Acids3bo3AD92
NUCNucleic Acids3bo4AD92
NUCNucleic Acids3g8sAD92
NUCNucleic Acids3g8sDD92
NUCNucleic Acids3g8tDD92
NUCNucleic Acids3g96AD92
NUCNucleic Acids3g96BD92
NUCNucleic Acids3g96CD92
NUCNucleic Acids3g96DD92
NUCNucleic Acids3g9cAD92
NUCNucleic Acids3g9cCD92
NUCNucleic Acids3hhnBD92
NUCNucleic Acids3hhnDD92
NUCNucleic Acids3iinAD92
NUCNucleic Acids3l3cAD92
NUCNucleic Acids3l3cCD92
NUCNucleic Acids3l3cDD92
NUCNucleic Acids3mumPD92
NUCNucleic Acids3mxhPD92
NUCNucleic Acids3r1hAD92
NUCNucleic Acids3r1hDD92
NUCNucleic Acids3r1lAD92
NUCNucleic Acids3r1lDD92
NUCNucleic Acids3ud3PD92
NUCNucleic Acids4c4wAD92
NUCNucleic Acids4c4wED92
NUCNucleic Acids4w90BD92
NUCNucleic Acids4w92BD92
NUCNucleic Acids4pr6AD92
NUCNucleic Acids4prfAD92
NUCNucleic Acids3ucuPK20
NUCNucleic Acids1drzAK20 D92
NUCNucleic Acids1m5pCK20 D92
NUCNucleic Acids2nz4AK20 D92
NUCNucleic Acids3irwPK20 D92
NUCNucleic Acids3murPK20 D92
NUCNucleic Acids3mutPK20 D92
NUCNucleic Acids3muvPK20 D92
NUCNucleic Acids3uczPK20 D92


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Conservation information for LBS of SNRPA
Multiple alignments for P09012 in multiple species
LBSAA sequence# speciesSpecies
A87MRIQYAKTDSD2Homo sapiens, Bos taurus
A87MRIQYAKTKSD2Arabidopsis thaliana, Oryza sativa subsp. japonica
A87MMIQYSKSKSD1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A87MQIAYSKSDSD1Drosophila melanogaster
D24EKIKKDELKKS2Homo sapiens, Bos taurus
D24EKIRLTMLKRI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D24EKIKKEELKKS1Drosophila melanogaster
D24EKVKLDELKKS1Arabidopsis thaliana
D24EKIKLEELKKS1Oryza sativa subsp. japonica
D42FGQILDILVSR2Homo sapiens, Bos taurus
D42YGKVIDVQARK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D42FGQILDIVALK1Drosophila melanogaster
D42FGKILEILAFK1Arabidopsis thaliana
D42FGKILDVLAFK1Oryza sativa subsp. japonica
D90QYAKTDSDIIA2Homo sapiens, Bos taurus
D90QYSKSKSDIIV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D90AYSKSDSDIVA1Drosophila melanogaster
D90QYAKTKSDVVA1Arabidopsis thaliana
D90QYAKTKSDIIA1Oryza sativa subsp. japonica
D92AKTDSDIIAKM2Homo sapiens, Bos taurus
D92SKSKSDIIVQR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D92SKSDSDIVAKI1Drosophila melanogaster
D92AKTKSDVVAKA1Arabidopsis thaliana
D92AKTKSDIIAKA1Oryza sativa subsp. japonica
E19INNLNEKIKKD2Homo sapiens, Bos taurus
E19IRNIEEKIRLT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E19INNLNEKIKKE1Drosophila melanogaster
E19INNLNEKVKLD1Arabidopsis thaliana
E19INNLNEKIKLE1Oryza sativa subsp. japonica
E5-MAVPE---TR2Homo sapiens, Bos taurus
E5QPSPKETDSQT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E5----ME---ML1Drosophila melanogaster
E5QGGGSE---VS1Arabidopsis thaliana
E5GGGAPEENGAP1Oryza sativa subsp. japonica
F56MRGQAFVIFKE3Homo sapiens, Bos taurus, Drosophila melanogaster
F56MRGQAFVVFDN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F56HKGQAWVVFDN1Arabidopsis thaliana
F56HKGQAWVVFED1Oryza sativa subsp. japonica
G53SLKMRGQAFVI2Homo sapiens, Bos taurus
G53TLRMRGQAFVV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G53TLKMRGQAFVI1Drosophila melanogaster
G53TFKHKGQAWVV1Arabidopsis thaliana
G53TLKHKGQAWVV1Oryza sativa subsp. japonica
H10-TRPNHTIYIN2Homo sapiens, Bos taurus
H10SQTPSETLYIR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H10-MLPNQTIYIN1Drosophila melanogaster
H10-VSPNQTIYIN1Arabidopsis thaliana
H10GAPPNVTIYIN1Oryza sativa subsp. japonica
I40SQFGQILDILV2Homo sapiens, Bos taurus
I40GSYGKVIDVQA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I40SQFGQILDIVA1Drosophila melanogaster
I40SQFGKILEILA1Arabidopsis thaliana
I40SQFGKILDVLA1Oryza sativa subsp. japonica
I43GQILDILVSRS2Homo sapiens, Bos taurus
I43GKVIDVQARKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I43GQILDIVALKT1Drosophila melanogaster
I43GKILEILAFKT1Arabidopsis thaliana
I43GKILDVLAFKT1Oryza sativa subsp. japonica
I58GQAFVIFKEVS2Homo sapiens, Bos taurus
I58GQAFVVFDNLE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I58GQAFVIFKEIG1Drosophila melanogaster
I58GQAWVVFDNTE1Arabidopsis thaliana
I58GQAWVVFEDVA1Oryza sativa subsp. japonica
I93KTDSDIIAKMK2Homo sapiens, Bos taurus
I93KSKSDIIVQRE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I93KSDSDIVAKIK1Drosophila melanogaster
I93KTKSDVVAKAD1Arabidopsis thaliana
I93KTKSDIIAKAD1Oryza sativa subsp. japonica
K20NNLNEKIKKDE2Homo sapiens, Bos taurus
K20RNIEEKIRLTM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K20NNLNEKIKKEE1Drosophila melanogaster
K20NNLNEKVKLDE1Arabidopsis thaliana
K20NNLNEKIKLEE1Oryza sativa subsp. japonica
K22LNEKIKKDELK2Homo sapiens, Bos taurus
K22IEEKIRLTMLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K22LNEKIKKEELK1Drosophila melanogaster
K22LNEKVKLDELK1Arabidopsis thaliana
K22LNEKIKLEELK1Oryza sativa subsp. japonica
K23NEKIKKDELKK2Homo sapiens, Bos taurus
K23EEKIRLTMLKR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K23NEKIKKEELKK1Drosophila melanogaster
K23NEKVKLDELKK1Arabidopsis thaliana
K23NEKIKLEELKK1Oryza sativa subsp. japonica
K50VSRSLKMRGQA2Homo sapiens, Bos taurus
K50ARKTLRMRGQA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K50ALKTLKMRGQA1Drosophila melanogaster
K50AFKTFKHKGQA1Arabidopsis thaliana
K50AFKTLKHKGQA1Oryza sativa subsp. japonica
K80FPFYDKPMRIQ2Homo sapiens, Bos taurus
K80YPLYGKPMMIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K80FPFYDKPMQIA1Drosophila melanogaster
K80FPFYDKEMRIQ1Arabidopsis thaliana
K80FPFHNKPMRIQ1Oryza sativa subsp. japonica
K88RIQYAKTDSDI2Homo sapiens, Bos taurus
K88MIQYSKSKSDI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K88QIAYSKSDSDI1Drosophila melanogaster
K88RIQYAKTKSDV1Arabidopsis thaliana
K88RIQYAKTKSDI1Oryza sativa subsp. japonica
L44QILDILVSRSL2Homo sapiens, Bos taurus
L44KVIDVQARKTL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L44QILDIVALKTL1Drosophila melanogaster
L44KILEILAFKTF1Arabidopsis thaliana
L44KILDVLAFKTL1Oryza sativa subsp. japonica
L49LVSRSLKMRGQ2Homo sapiens, Bos taurus
L49QARKTLRMRGQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L49VALKTLKMRGQ1Drosophila melanogaster
L49LAFKTFKHKGQ1Arabidopsis thaliana
L49LAFKTLKHKGQ1Oryza sativa subsp. japonica
M1-----MAVPE-2Homo sapiens, Bos taurus
M1QEVQQPSPKET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M1--------ME-1Drosophila melanogaster
M1QEANQGGGSE-1Arabidopsis thaliana
M1AAAVGGGAPEE1Oryza sativa subsp. japonica
M51SRSLKMRGQAF2Homo sapiens, Bos taurus
M51RKTLRMRGQAF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
M51LKTLKMRGQAF1Drosophila melanogaster
M51FKTFKHKGQAW1Arabidopsis thaliana
M51FKTLKHKGQAW1Oryza sativa subsp. japonica
N15HTIYINNLNEK2Homo sapiens, Bos taurus
N15QTIYINNLNEK2Drosophila melanogaster, Arabidopsis thaliana
N15ETLYIRNIEEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N15VTIYINNLNEK1Oryza sativa subsp. japonica
N16TIYINNLNEKI4Homo sapiens, Bos taurus, Drosophila melanogaster, Oryza sativa subsp. japonica
N16TLYIRNIEEKI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N16TIYINNLNEKV1Arabidopsis thaliana
Q39FSQFGQILDIL2Homo sapiens, Bos taurus
Q39FGSYGKVIDVQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q39FSQFGQILDIV1Drosophila melanogaster
Q39FSQFGKILEIL1Arabidopsis thaliana
Q39FSQFGKILDVL1Oryza sativa subsp. japonica
Q54LKMRGQAFVIF3Homo sapiens, Bos taurus, Drosophila melanogaster
Q54LRMRGQAFVVF1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q54FKHKGQAWVVF1Arabidopsis thaliana
Q54LKHKGQAWVVF1Oryza sativa subsp. japonica
Q85KPMRIQYAKTD2Homo sapiens, Bos taurus
Q85KPMMIQYSKSK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q85KPMQIAYSKSD1Drosophila melanogaster
Q85KEMRIQYAKTK1Arabidopsis thaliana
Q85KPMRIQYAKTK1Oryza sativa subsp. japonica
R47DILVSRSLKMR2Homo sapiens, Bos taurus
R47DVQARKTLRMR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R47DIVALKTLKMR1Drosophila melanogaster
R47EILAFKTFKHK1Arabidopsis thaliana
R47DVLAFKTLKHK1Oryza sativa subsp. japonica
R52RSLKMRGQAFV2Homo sapiens, Bos taurus
R52KTLRMRGQAFV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R52KTLKMRGQAFV1Drosophila melanogaster
R52KTFKHKGQAWV1Arabidopsis thaliana
R52KTLKHKGQAWV1Oryza sativa subsp. japonica
R83YDKPMRIQYAK2Homo sapiens, Bos taurus
R83YGKPMMIQYSK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R83YDKPMQIAYSK1Drosophila melanogaster
R83YDKEMRIQYAK1Arabidopsis thaliana
R83HNKPMRIQYAK1Oryza sativa subsp. japonica
S46LDILVSRSLKM2Homo sapiens, Bos taurus
S46IDVQARKTLRM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S46LDIVALKTLKM1Drosophila melanogaster
S46LEILAFKTFKH1Arabidopsis thaliana
S46LDVLAFKTLKH1Oryza sativa subsp. japonica
S48ILVSRSLKMRG2Homo sapiens, Bos taurus
S48VQARKTLRMRG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S48IVALKTLKMRG1Drosophila melanogaster
S48ILAFKTFKHKG1Arabidopsis thaliana
S48VLAFKTLKHKG1Oryza sativa subsp. japonica
S91YAKTDSDIIAK2Homo sapiens, Bos taurus
S91YSKSKSDIIVQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S91YSKSDSDIVAK1Drosophila melanogaster
S91YAKTKSDVVAK1Arabidopsis thaliana
S91YAKTKSDIIAK1Oryza sativa subsp. japonica
T6PE---TRPNHT2Homo sapiens, Bos taurus
T6KETDSQTPSET1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T6ME---MLPNQT1Drosophila melanogaster
T6SE---VSPNQT1Arabidopsis thaliana
T6PEENGAPPNVT1Oryza sativa subsp. japonica
T89IQYAKTDSDII2Homo sapiens, Bos taurus
T89IQYSKSKSDII1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T89IAYSKSDSDIV1Drosophila melanogaster
T89IQYAKTKSDVV1Arabidopsis thaliana
T89IQYAKTKSDII1Oryza sativa subsp. japonica
V45ILDILVSRSLK2Homo sapiens, Bos taurus
V45VIDVQARKTLR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V45ILDIVALKTLK1Drosophila melanogaster
V45ILEILAFKTFK1Arabidopsis thaliana
V45ILDVLAFKTLK1Oryza sativa subsp. japonica
Y13PNHTIYINNLN2Homo sapiens, Bos taurus
Y13PNQTIYINNLN2Drosophila melanogaster, Arabidopsis thaliana
Y13PSETLYIRNIE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y13PNVTIYINNLN1Oryza sativa subsp. japonica
Y86PMRIQYAKTDS2Homo sapiens, Bos taurus
Y86PMMIQYSKSKS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y86PMQIAYSKSDS1Drosophila melanogaster
Y86EMRIQYAKTKS1Arabidopsis thaliana
Y86PMRIQYAKTKS1Oryza sativa subsp. japonica


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