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 SNRNP200
Gene summary
Basic gene Info.Gene symbolSNRNP200
Gene namesmall nuclear ribonucleoprotein 200kDa (U5)
SynonymsASCC3L1|BRR2|HELIC2|RP33|U5-200KD
CytomapUCSC genome browser: 2q11.2
Type of geneprotein-coding
RefGenesNM_014014.4,
DescriptionBRR2 homologU5 small nuclear ribonucleoprotein 200 kDa helicaseU5 snRNP-specific 200 kDa proteinactivating signal cointegrator 1 complex subunit 3-like 1
Modification date20141219
dbXrefs MIM : 601664
HGNC : HGNC
Ensembl : ENSG00000144028
HPRD : 03391
Vega : OTTHUMG00000130455
ProteinUniProt: O75643
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_SNRNP200
BioGPS: 23020
PathwayNCI Pathway Interaction Database: SNRNP200
KEGG: SNRNP200
REACTOME: SNRNP200
Pathway Commons: SNRNP200
ContextiHOP: SNRNP200
ligand binding site mutation search in PubMed: SNRNP200
UCL Cancer Institute: SNRNP200
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:0000398mRNA splicing, via spliceosome8670905
GO:0001649osteoblast differentiation16210410
GO:0006200ATP catabolic process23045696


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Ligand binding site mutations for SNRNP200

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
E616H618NBRCA1
H1236H1236NLUSC1
G1353G1353ROV1
E1455H1457YSKCM1
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 SNRNP200
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
E616H618N-0.39737646
H1236H1236N-0.28166462
G1353G1353R-0.25019322
E1455H1457Y-0.1419683
(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 SNRNP200 from PDB

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Differential gene expression and gene-gene network for SNRNP200
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 SNRNP200 and the right PPI network was created from samples without mutations in the LBS of SNRNP200. 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 SNRNP200
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1835895Retinitis Pigmentosa 335Biomarker, GeneticVariation
umls:C0035334Retinitis Pigmentosa4Biomarker, GeneticVariation

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

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Pharmacological information for SNRNP200
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 SNRNP200 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ADPADP4kitBE616
ADPADP4kitBG1353
ATPATP4f93BG1353 E1455
SANSULFANILAMIDE4f92BH1236


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Conservation information for LBS of SNRNP200
Multiple alignments for O75643 in multiple species
LBSAA sequence# speciesSpecies
A507CAPTGAGKTNV7Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
A507CAPTGSGKTNI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D1454NLFVVDEVHLI2Homo sapiens, Mus musculus
D1454SLFIVDELHLI2Arabidopsis thaliana, Arabidopsis thaliana
D1454ELMIYDDAHEI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
D1454DFYICDELQLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D1454KLFIADDLHMI1Caenorhabditis elegans
D1454NLFIVDELQLV1Drosophila melanogaster
E1097MRAIFEIVLNR2Homo sapiens, Mus musculus
E1097LRAMFEICLKR1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E1097MRAIFEISLRR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1097LRAIFEIVLKR1Arabidopsis thaliana
E1097VRALYEIVLKR1Arabidopsis thaliana
E1097FRALFEIVLWR1Caenorhabditis elegans
E1097MRAIFEIVLTR1Drosophila melanogaster
E1237VILHHEYFLLK2Homo sapiens, Mus musculus
E1237SILYYDVLFIT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E1237RLLHYEQFFLL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1237KILHHEYFLFK1Arabidopsis thaliana
E1237KILHHEYFLLK1Arabidopsis thaliana
E1237KILHHEFFLLK1Caenorhabditis elegans
E1237LILHHEFFLLK1Drosophila melanogaster
E1455LFVVDEVHLIG2Homo sapiens, Mus musculus
E1455LFIVDELHLIG2Arabidopsis thaliana, Arabidopsis thaliana
E1455LMIYDDAHEIS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
E1455FYICDELQLLG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E1455LFIADDLHMIG1Caenorhabditis elegans
E1455LFIVDELQLVG1Drosophila melanogaster
E616LLIIDEIHLLH3Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Arabidopsis thaliana, Caenorhabditis elegans
E616LIILDEIHLLH1Homo sapiens
E616LVIIDEVHLLH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
E616LLIIDEIHLLD1Arabidopsis thaliana
E616LVIIDEIHLLH1Drosophila melanogaster
E616LIVLDEIHLLH1Mus musculus
F1325YQDK-FPFFNP2Homo sapiens, Mus musculus
F1325YQD--FKHFNP2Arabidopsis thaliana, Arabidopsis thaliana
F1325FE---FKTFNK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F1325YPN--FKFFNK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1325FAESGFKVFNP1Caenorhabditis elegans
F1325YSQR-FPQFNP1Drosophila melanogaster
F1327DK-FPFFNPIQ2Homo sapiens, Mus musculus
F1327D--FKHFNPVQ2Arabidopsis thaliana, Arabidopsis thaliana
F1327---FKTFNKIQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F1327N--FKFFNKIQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F1327ESGFKVFNPIQ1Caenorhabditis elegans
F1327QR-FPQFNPIQ1Drosophila melanogaster
F478AGFEGFKT--L2Homo sapiens, Mus musculus
F478EAFPSSETTSL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
F478QAFLNTQS--L1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
F478PAFRGMQQ--L1Arabidopsis thaliana
F478PAFKGMQQ--L1Arabidopsis thaliana
F478PAFDGYKS--L1Caenorhabditis elegans
F478PVFEGFKT--L1Drosophila melanogaster
G1353VGAPTGSGKTI2Homo sapiens, Mus musculus
G1353VAAPTGSGKTI2Arabidopsis thaliana, Arabidopsis thaliana
G1353VGSGKGTGKTA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1353IGAPNGSGKTV1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1353VCAPNGSGKTA1Caenorhabditis elegans
G1353VGAPTGSGKMT1Drosophila melanogaster
G1355APTGSGKTICA4Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus
G1355SGKGTGKTAMA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1355APNGSGKTVCA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1355APNGSGKTAIA1Caenorhabditis elegans
G1355APTGSGKMTIA1Drosophila melanogaster
G1708VIMCQGSKKDF2Homo sapiens, Mus musculus
G1708VIFCHAPRKEY2Arabidopsis thaliana, Arabidopsis thaliana
G1708LILTSHNMKAY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G1708ILMTVTTKKEY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G1708VVMCQTSKRAY1Caenorhabditis elegans
G1708VLMCQSSKKDF1Drosophila melanogaster
G506LCAPTGAGKTN7Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
G506ICAPTGSGKTN1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
G508APTGAGKTNVA7Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
G508APTGSGKTNIA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H1236EVILHHEYFLL2Homo sapiens, Mus musculus
H1236DSILYYDVLFI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
H1236DRLLHYEQFFL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H1236EKILHHEYFLF1Arabidopsis thaliana
H1236EKILHHEYFLL1Arabidopsis thaliana
H1236EKILHHEFFLL1Caenorhabditis elegans
H1236ELILHHEFFLL1Drosophila melanogaster
I1358GSGKTICAEFA4Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus
I1358GTGKTAMAELA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
I1358GSGKTVCAELA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
I1358GSGKTAIAELA1Caenorhabditis elegans
I1358GSGKMTIAEFA1Drosophila melanogaster
K1356PTGSGKTICAE4Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus
K1356GKGTGKTAMAE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K1356PNGSGKTVCAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
K1356PNGSGKTAIAE1Caenorhabditis elegans
K1356PTGSGKMTIAE1Drosophila melanogaster
K509PTGAGKTNVAL4Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
K509PTGAGKTNVAM2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
K509PTGSGKTNIAL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
K509PTGAGKTNVAV1Arabidopsis thaliana
L481FKT--LNRIQS3Homo sapiens, Drosophila melanogaster, Mus musculus
L481MQQ--LNRVQS2Arabidopsis thaliana, Arabidopsis thaliana
L481SETTSLNPIQS1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
L481TQS--LNRIQS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L481YKS--LNRIQS1Caenorhabditis elegans
N1329-FPFFNPIQTQ2Homo sapiens, Mus musculus
N1329-FKHFNPVQTQ2Arabidopsis thaliana, Arabidopsis thaliana
N1329-FKTFNKIQSQ1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N1329-FKFFNKIQTQ1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N1329GFKVFNPIQTQ1Caenorhabditis elegans
N1329-FPQFNPIQTQ1Drosophila melanogaster
N1531HIQGFNISHTQ2Homo sapiens, Mus musculus
N1531NIQSFKDVEHI1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N1531HLQSFSITHFP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N1531HIHGVDILSFE1Arabidopsis thaliana
N1531HIQGVDISSFE1Arabidopsis thaliana
N1531EIKSFNLSHNA1Caenorhabditis elegans
N1531HIQGYNVTHNA1Drosophila melanogaster
N482KT--LNRIQSK2Homo sapiens, Mus musculus
N482QQ--LNRVQSK2Arabidopsis thaliana, Arabidopsis thaliana
N482ETTSLNPIQSK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N482QS--LNRIQSH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N482KS--LNRIQSR1Caenorhabditis elegans
N482KT--LNRIQSR1Drosophila melanogaster
N511GAGKTNVALMC2Homo sapiens, Mus musculus
N511GAGKTNVALLT2Caenorhabditis elegans, Drosophila melanogaster
N511GSGKTNIALLT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
N511GAGKTNVAMLC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N511GAGKTNVAVLT1Arabidopsis thaliana
N511GAGKTNVAMLT1Arabidopsis thaliana
N820LAWGVNLPAHT8Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana, Arabidopsis thaliana, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus
P1351VFVGAPTGSGK3Homo sapiens, Drosophila melanogaster, Mus musculus
P1351VFVGSGKGTGK1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P1351VFIGAPNGSGK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P1351VVVAAPTGSGK1Arabidopsis thaliana
P1351VLVAAPTGSGK1Arabidopsis thaliana
P1351VIVCAPNGSGK1Caenorhabditis elegans
P1694GHANRPLQDDE2Homo sapiens, Mus musculus
P1694GLASG-NDSMA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
P1694GFTASIGSSEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
P1694GRGSRPLLDDA1Arabidopsis thaliana
P1694GRASRPLLDNA1Arabidopsis thaliana
P1694GLANRPILDSD1Caenorhabditis elegans
P1694GRANRPNEDAD1Drosophila melanogaster
Q1332FFNPIQTQVFN2Homo sapiens, Mus musculus
Q1332HFNPVQTQVFT2Arabidopsis thaliana, Arabidopsis thaliana
Q1332TFNKIQSQVFE1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q1332FFNKIQTQVFN1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q1332VFNPIQTQVFR1Caenorhabditis elegans
Q1332QFNPIQTQVFN1Drosophila melanogaster
Q1707CVIMCQGSKKD2Homo sapiens, Mus musculus
Q1707CVIFCHAPRKE2Arabidopsis thaliana, Arabidopsis thaliana
Q1707VLILTSHNMKA1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q1707VILMTVTTKKE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q1707CVVMCQTSKRA1Caenorhabditis elegans
Q1707CVLMCQSSKKD1Drosophila melanogaster
Q485-LNRIQSKLYR2Homo sapiens, Mus musculus
Q485SLNPIQSKVFH1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Q485-LNRIQSHLYP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Q485-LNRVQSKVYG1Arabidopsis thaliana
Q485-LNRVQSKVYD1Arabidopsis thaliana
Q485-LNRIQSRLCD1Caenorhabditis elegans
Q485-LNRIQSRLYK1Drosophila melanogaster
S1354GAPTGSGKTIC2Homo sapiens, Mus musculus
S1354AAPTGSGKTIC2Arabidopsis thaliana, Arabidopsis thaliana
S1354GSGKGTGKTAM1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S1354GAPNGSGKTVC1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S1354CAPNGSGKTAI1Caenorhabditis elegans
S1354GAPTGSGKMTI1Drosophila melanogaster
S1709IMCQGSKKDFF2Homo sapiens, Mus musculus
S1709IFCHAPRKEYY2Arabidopsis thaliana, Arabidopsis thaliana
S1709ILTSHNMKAYY1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
S1709LMTVTTKKEYY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S1709VMCQTSKRAYY1Caenorhabditis elegans
S1709LMCQSSKKDFF1Drosophila melanogaster
T1352FVGAPTGSGKT2Homo sapiens, Mus musculus
T1352FVGSGKGTGKT1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T1352FIGAPNGSGKT1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1352VVAAPTGSGKT1Arabidopsis thaliana
T1352LVAAPTGSGKT1Arabidopsis thaliana
T1352IVCAPNGSGKT1Caenorhabditis elegans
T1352FVGAPTGSGKM1Drosophila melanogaster
T1357TGSGKTICAEF4Homo sapiens, Arabidopsis thaliana, Arabidopsis thaliana, Mus musculus
T1357KGTGKTAMAEL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T1357NGSGKTVCAEL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T1357NGSGKTAIAEL1Caenorhabditis elegans
T1357TGSGKMTIAEF1Drosophila melanogaster
T480FEGFKT--LNR3Homo sapiens, Drosophila melanogaster, Mus musculus
T480FPSSETTSLNP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T480FLNTQS--LNR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T480FRGMQQ--LNR1Arabidopsis thaliana
T480FKGMQQ--LNR1Arabidopsis thaliana
T480FDGYKS--LNR1Caenorhabditis elegans
T510TGAGKTNVALM2Homo sapiens, Mus musculus
T510TGAGKTNVAML2Schizosaccharomyces pombe (strain 972 / ATCC 24843), Arabidopsis thaliana
T510TGAGKTNVALL2Caenorhabditis elegans, Drosophila melanogaster
T510TGSGKTNIALL1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
T510TGAGKTNVAVL1Arabidopsis thaliana
W1222SSEAFWILVED2Homo sapiens, Mus musculus
W1222YVEPFWIIVED2Arabidopsis thaliana, Arabidopsis thaliana
W1222SLEPFLLMLED1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
W1222TSEAFWILVED1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
W1222SAEGFWIFIED1Caenorhabditis elegans
W1222QSEGFWVLIED1Drosophila melanogaster
Y1238ILHHEYFLLKA2Homo sapiens, Mus musculus
Y1238ILHHEFFLLKQ2Caenorhabditis elegans, Drosophila melanogaster
Y1238ILYYDVLFITP1Saccharomyces cerevisiae (strain ATCC 204508 / S288c)
Y1238LLHYEQFFLLK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
Y1238ILHHEYFLFKK1Arabidopsis thaliana
Y1238ILHHEYFLLKK1Arabidopsis thaliana


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