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mutLBSgeneDB |
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| Gene summary for CRYM |
 Gene summary |
| Basic gene Info. | Gene symbol | CRYM |
| Gene name | crystallin, mu | |
| Synonyms | DFNA40|THBP | |
| Cytomap | UCSC genome browser: 16p12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001888.4, NM_001014444.2, | |
| Description | NADP-regulated thyroid-hormone binding proteinketimine reductase mu-crystallinmu-crystallin homologthiomorpholine-carboxylate dehydrogenase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 123740 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000103316 | ||
| HPRD : 08831 | ||
| Vega : OTTHUMG00000090707 | ||
| Protein | UniProt: Q14894 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRYM | |
| BioGPS: 1428 | ||
| Pathway | NCI Pathway Interaction Database: CRYM | |
| KEGG: CRYM | ||
| REACTOME: CRYM | ||
| Pathway Commons: CRYM | ||
| Context | iHOP: CRYM | |
| ligand binding site mutation search in PubMed: CRYM | ||
| UCL Cancer Institute: CRYM | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V226 | V226L | BLCA | 1 | S292 | K291R | KIRC | 1 | T170 | K171I | LUSC | 1 | A144 | A144S | LUSC | 1 | S292 | S292F | SKCM | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | A144 | A144S | -0.6555567 | V226 | V226L | -0.6380336 | S292 | S292F | -0.52131945 | S292 | K291R | -0.20710898 | T170 | K171I | -0.092517951 |
| (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 |
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| 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) |
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| Phenotype information for CRYM |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB05235 | NRP409 | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CRYM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NDP | NADPH | 2i99 | A | A144 T170 V226 S292 | NDP | NADPH | 2i99 | B | A144 T170 V226 S292 |
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| Conservation information for LBS of CRYM |
| Multiple alignments for Q14894 in multiple species |
| LBS | AA sequence | # species | Species | A144 | LCILGAGVQAY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | A144 | LLIIGSGKVAE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A207 | ITVTMATEPIL | 3 | Mus musculus, Rattus norvegicus, Bos taurus | A207 | ITVTLATEPIL | 1 | Homo sapiens | A207 | SSATLSKKPII | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A228 | INAVGASRPDW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A228 | IDLVGGFTPHM | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A228 | INAIGASRPDW | 1 | Bos taurus | D82 | VTFYEDRGITS | 1 | Homo sapiens | D82 | VNVFPENTKHG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D82 | VTFYEGHSNTA | 1 | Mus musculus | D82 | VTFYEGHSNNA | 1 | Rattus norvegicus | D82 | VTFYEDHSATS | 1 | Bos taurus | G143 | VLCILGAGVQA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G143 | SLLIIGSGKVA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G145 | CILGAGVQAYS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G145 | LIIGSGKVAEK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G227 | HINAVGASRPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G227 | HIDLVGGFTPH | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G227 | HINAIGASRPD | 1 | Bos taurus | G294 | VFKSLGMAVED | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G294 | LFKSVGDSRED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H92 | A-VPSHQASVL | 2 | Mus musculus, Rattus norvegicus | H92 | SVVPSHQATVL | 1 | Homo sapiens | H92 | G-LPSLSSHYL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H92 | STVPSHQATVL | 1 | Bos taurus | L206 | IITVTMATEPI | 3 | Mus musculus, Rattus norvegicus, Bos taurus | L206 | IITVTLATEPI | 1 | Homo sapiens | L206 | ISSATLSKKPI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L293 | TVFKSLGMAVE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L293 | TLFKSVGDSRE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N168 | EVRIWNRTKEN | 2 | Homo sapiens, Bos taurus | N168 | EVRMWNRTREN | 2 | Mus musculus, Rattus norvegicus | N168 | SVRIWNHRFES | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N173 | NRTRENAEKFA | 2 | Mus musculus, Rattus norvegicus | N173 | NRTKENAEKFA | 1 | Homo sapiens | N173 | NHRFESAKSLA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N173 | NRTKENAEKFV | 1 | Bos taurus | Q147 | LGAGVQAYSHY | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q147 | IGSGKVAEKLI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R119 | VITAKRTAAVS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R119 | ELTSRRTAAAS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R169 | VRIWNRTKENA | 2 | Homo sapiens, Bos taurus | R169 | VRMWNRTRENA | 2 | Mus musculus, Rattus norvegicus | R169 | VRIWNHRFESA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S292 | TTVFKSLGMAV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S292 | ITLFKSVGDSR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S91 | TSVVPSHQATV | 1 | Homo sapiens | S91 | HG-LPSLSSHY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S91 | TA-VPSHQASV | 1 | Mus musculus | S91 | NA-VPSHQASV | 1 | Rattus norvegicus | S91 | TSTVPSHQATV | 1 | Bos taurus | T116 | DGNVITAKRTA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T116 | DGNELTSRRTA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T120 | ITAKRTAAVSA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T120 | LTSRRTAAASA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T170 | RIWNRTKENAE | 2 | Homo sapiens, Bos taurus | T170 | RMWNRTRENAE | 2 | Mus musculus, Rattus norvegicus | T170 | RIWNHRFESAK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T205 | VIITVTMATEP | 3 | Mus musculus, Rattus norvegicus, Bos taurus | T205 | VIITVTLATEP | 1 | Homo sapiens | T205 | IISSATLSKKP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V146 | ILGAGVQAYSH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V146 | IIGSGKVAEKL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V204 | DVIITVTMATE | 3 | Mus musculus, Rattus norvegicus, Bos taurus | V204 | DVIITVTLATE | 1 | Homo sapiens | V204 | DIISSATLSKK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V226 | AHINAVGASRP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V226 | THIDLVGGFTP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V226 | AHINAIGASRP | 1 | Bos taurus |
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