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 CRYM
Gene summary
Basic gene Info.Gene symbolCRYM
Gene namecrystallin, mu
CytomapUCSC genome browser: 16p12.2
Type of geneprotein-coding
DescriptionNADP-regulated thyroid-hormone binding proteinketimine reductase mu-crystallinmu-crystallin homologthiomorpholine-carboxylate dehydrogenase
Modification date20141207
dbXrefs MIM : 123740
Ensembl : ENSG00000103316
HPRD : 08831
Vega : OTTHUMG00000090707
ProteinUniProt: Q14894
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CRYM
BioGPS: 1428
PathwayNCI Pathway Interaction Database: CRYM
Pathway Commons: CRYM
ContextiHOP: CRYM
ligand binding site mutation search in PubMed: CRYM
UCL Cancer Institute: CRYM
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 CRYM
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 CRYM
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 CRYM from PDB

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


Phenotype information for CRYM
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for CRYM
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
InvestigationalDB05235NRP409Small molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CRYM go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NDPNADPH2i99AA144 T170 V226 S292
NDPNADPH2i99BA144 T170 V226 S292

Conservation information for LBS of CRYM
Multiple alignments for Q14894 in multiple species
LBSAA sequence# speciesSpecies
A144LCILGAGVQAY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
A144LLIIGSGKVAE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A207ITVTMATEPIL3Mus musculus, Rattus norvegicus, Bos taurus
A207ITVTLATEPIL1Homo sapiens
A207SSATLSKKPII1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A228INAVGASRPDW3Homo sapiens, Mus musculus, Rattus norvegicus
A228IDLVGGFTPHM1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
A228INAIGASRPDW1Bos taurus
D82VTFYEDRGITS1Homo sapiens
D82VNVFPENTKHG1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
D82VTFYEGHSNTA1Mus musculus
D82VTFYEGHSNNA1Rattus norvegicus
G143VLCILGAGVQA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G143SLLIIGSGKVA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G145CILGAGVQAYS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G145LIIGSGKVAEK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G227HINAVGASRPD3Homo sapiens, Mus musculus, Rattus norvegicus
G227HIDLVGGFTPH1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
G227HINAIGASRPD1Bos taurus
G294VFKSLGMAVED4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
G294LFKSVGDSRED1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
H92A-VPSHQASVL2Mus musculus, Rattus norvegicus
H92SVVPSHQATVL1Homo sapiens
H92G-LPSLSSHYL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L206IITVTMATEPI3Mus musculus, Rattus norvegicus, Bos taurus
L206IITVTLATEPI1Homo sapiens
L206ISSATLSKKPI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
L293TVFKSLGMAVE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L293TLFKSVGDSRE1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N168EVRIWNRTKEN2Homo sapiens, Bos taurus
N168EVRMWNRTREN2Mus musculus, Rattus norvegicus
N168SVRIWNHRFES1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N173NRTRENAEKFA2Mus musculus, Rattus norvegicus
N173NRTKENAEKFA1Homo sapiens
N173NHRFESAKSLA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
N173NRTKENAEKFV1Bos taurus
Q147LGAGVQAYSHY4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Q147IGSGKVAEKLI1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R119VITAKRTAAVS4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
R119ELTSRRTAAAS1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
R169VRIWNRTKENA2Homo sapiens, Bos taurus
R169VRMWNRTRENA2Mus musculus, Rattus norvegicus
R169VRIWNHRFESA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S292TTVFKSLGMAV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
S292ITLFKSVGDSR1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S91TSVVPSHQATV1Homo sapiens
S91HG-LPSLSSHY1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
S91TA-VPSHQASV1Mus musculus
S91NA-VPSHQASV1Rattus norvegicus
T116DGNVITAKRTA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T116DGNELTSRRTA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T120ITAKRTAAVSA4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
T120LTSRRTAAASA1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T170RIWNRTKENAE2Homo sapiens, Bos taurus
T170RMWNRTRENAE2Mus musculus, Rattus norvegicus
T170RIWNHRFESAK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
T205VIITVTMATEP3Mus musculus, Rattus norvegicus, Bos taurus
T205VIITVTLATEP1Homo sapiens
T205IISSATLSKKP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V146ILGAGVQAYSH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
V146IIGSGKVAEKL1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V204DVIITVTMATE3Mus musculus, Rattus norvegicus, Bos taurus
V204DVIITVTLATE1Homo sapiens
V204DIISSATLSKK1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V226AHINAVGASRP3Homo sapiens, Mus musculus, Rattus norvegicus
V226THIDLVGGFTP1Schizosaccharomyces pombe (strain 972 / ATCC 24843)
V226AHINAIGASRP1Bos taurus

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