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 CRYAB
Gene summary
Basic gene Info.Gene symbolCRYAB
Gene namecrystallin, alpha B
CytomapUCSC genome browser: 11q22.3-q23.1
Type of geneprotein-coding
Descriptionalpha-crystallin B chainepididymis secretory protein Li 101heat shock protein beta-5heat-shock 20 kD like-proteinrenal carcinoma antigen NY-REN-27rosenthal fiber component
Modification date20141222
dbXrefs MIM : 123590
Ensembl : ENSG00000109846
HPRD : 00428
Vega : OTTHUMG00000166885
ProteinUniProt: P02511
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CRYAB
BioGPS: 1410
PathwayNCI Pathway Interaction Database: CRYAB
Pathway Commons: CRYAB
ContextiHOP: CRYAB
ligand binding site mutation search in PubMed: CRYAB
UCL Cancer Institute: CRYAB
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0032387negative regulation of intracellular transport14752512
GO:0043066negative regulation of apoptotic process14752512
GO:0051260protein homooligomerization16303126

Ligand binding site mutations for CRYAB
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 CRYAB
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 CRYAB from PDB

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


Phenotype information for CRYAB
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0086543Cataract16Biomarker, GeneticVariation
umls:C0524851Neurodegenerative Diseases4Biomarker, GeneticVariation
umls:C0007137Carcinoma, Squamous Cell2Biomarker
umls:C0007134Carcinoma, Renal Cell1Biomarker
umls:C0009375Colonic Neoplasms1Biomarker
umls:C0014859Esophageal Neoplasms1Biomarker
umls:C0026640Mouth Neoplasms1Biomarker
umls:C0033578Prostatic Neoplasms1Biomarker
umls:C0040411Tongue Neoplasms1Biomarker

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

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

Conservation information for LBS of CRYAB
Multiple alignments for P02511 in multiple species
LBSAA sequence# speciesSpecies
I133VDPLTITSSLS4Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus
I133VNPDTVTSSLS1Drosophila melanogaster
I133VDPLAITSSLS1Bos taurus
K90SPEELKVKVLG5Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus
K90SPSEITVKVAD1Drosophila melanogaster
K92EELKVKVLGDV4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
K92SEITVKVADKF1Drosophila melanogaster
K92EELKVKVLGDM1Gallus gallus
L131ADVDPLTITSS4Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus
L131SDVNPDTVTSS1Drosophila melanogaster
L131ADVDPLAITSS1Bos taurus
L137TITSSLSSDGV3Homo sapiens, Rattus norvegicus, Mus musculus
L137TVTSSLSSDGL1Drosophila melanogaster
L137TITSSLSLDGV1Gallus gallus
L137AITSSLSSDGV1Bos taurus
L143SSDGVLTVNGP4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
L143SSDGLLTIKAP1Drosophila melanogaster
L143SLDGVLTVSAP1Gallus gallus
L89FSPEELKVKVL5Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus
L89FSPSEITVKVA1Drosophila melanogaster
L94LKVKVLGDVIE4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
L94ITVKVADKFVI1Drosophila melanogaster
L94LKVKVLGDMIE1Gallus gallus
P130PADVDPLTITS4Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus
P130PSDVNPDTVTS1Drosophila melanogaster
P130PADVDPLAITS1Bos taurus
P86VKHFSPEELKV5Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus
P86VQQFSPSEITV1Drosophila melanogaster
S135PLTITSSLSSD3Homo sapiens, Rattus norvegicus, Mus musculus
S135PDTVTSSLSSD1Drosophila melanogaster
S135PLTITSSLSLD1Gallus gallus
S135PLAITSSLSSD1Bos taurus
S136LTITSSLSSDG3Homo sapiens, Rattus norvegicus, Mus musculus
S136DTVTSSLSSDG1Drosophila melanogaster
S136LTITSSLSLDG1Gallus gallus
S136LAITSSLSSDG1Bos taurus
S138ITSSLSSDGVL4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
S138VTSSLSSDGLL1Drosophila melanogaster
S138ITSSLSLDGVL1Gallus gallus
T134DPLTITSSLSS3Homo sapiens, Rattus norvegicus, Mus musculus
T134NPDTVTSSLSS1Drosophila melanogaster
T134DPLTITSSLSL1Gallus gallus
T134DPLAITSSLSS1Bos taurus
V91PEELKVKVLGD5Homo sapiens, Gallus gallus, Rattus norvegicus, Mus musculus, Bos taurus
V91PSEITVKVADK1Drosophila melanogaster
V93ELKVKVLGDVI4Homo sapiens, Rattus norvegicus, Mus musculus, Bos taurus
V93EITVKVADKFV1Drosophila melanogaster
V93ELKVKVLGDMI1Gallus gallus

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