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mutLBSgeneDB |
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| Gene summary for CRYZ |
 Gene summary |
| Basic gene Info. | Gene symbol | CRYZ |
| Gene name | crystallin, zeta (quinone reductase) | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 1p31.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001130042.1, NM_001130043.1,NM_001134759.1,NM_001889.3, | |
| Description | NADPH:quinone reductasequinone oxidoreductase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 123691 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000116791 | ||
| HPRD : 00437 | ||
| Vega : OTTHUMG00000009620 | ||
| Protein | UniProt: Q08257 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRYZ | |
| BioGPS: 1429 | ||
| Pathway | NCI Pathway Interaction Database: CRYZ | |
| KEGG: CRYZ | ||
| REACTOME: CRYZ | ||
| Pathway Commons: CRYZ | ||
| Context | iHOP: CRYZ | |
| ligand binding site mutation search in PubMed: CRYZ | ||
| UCL Cancer Institute: CRYZ | ||
| 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 | GO:0042178 | xenobiotic catabolic process | 17497241 |
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| Ligand binding site mutations for CRYZ |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N229 | L230R | LUAD | 1 | V161 | G162E | LUAD | 1 | Y53 | R55C | SKCM | 1 | L271 | S273F | SKCM | 1 | P49 | V50M | STAD | 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 CRYZ |
| 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 | V161 | G162E | 0.72208781 | N229 | L230R | -1.4581011 | Y53 | R55C | -1.3201959 | P49 | V50M | -1.0089284 | L271 | S273F | -0.66985257 |
| (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 CRYZ from PDB |
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| Differential gene expression and gene-gene network for CRYZ |
| 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 CRYZ |
| 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 CRYZ |
| 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 |
| Approved | DB00266 | Dicoumarol | Small molecule |  |
| Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CRYZ go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 1yb5 | A | P49 Y53 V161 N229 L271 | NAP | NADP ZWITTERION | 1yb5 | B | P49 Y53 V161 N229 L271 |
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| Conservation information for LBS of CRYZ |
| Multiple alignments for Q08257 in multiple species |
| LBS | AA sequence | # species | Species | A180 | KVLGTAGSEEG | 2 | Mus musculus, Rattus norvegicus | A180 | KILGTAGTEEG | 1 | Homo sapiens | A180 | KVLGTASTEEG | 1 | Bos taurus | A321 | IHGSGATGKMI | 1 | Homo sapiens | A321 | IHGSGKTGKMI | 1 | Mus musculus | A321 | IHSSGKMGKMI | 1 | Rattus norvegicus | A321 | IHSSGATGKMI | 1 | Bos taurus | G156 | SVLVHGASGGV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G159 | VHGASGGVGLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G159 | VHGASGGVGIA | 1 | Bos taurus | G160 | HGASGGVGLAT | 2 | Mus musculus, Rattus norvegicus | G160 | HGASGGVGLAA | 1 | Homo sapiens | G160 | HGASGGVGIAA | 1 | Bos taurus | G181 | VLGTAGSEEGK | 2 | Mus musculus, Rattus norvegicus | G181 | ILGTAGTEEGQ | 1 | Homo sapiens | G181 | VLGTASTEEGQ | 1 | Bos taurus | G247 | RVIVVGSRGTI | 2 | Homo sapiens, Bos taurus | G247 | RVVVVGCRGPI | 1 | Mus musculus | G247 | RVIVVGCRGSI | 1 | Rattus norvegicus | G320 | IIHGSGATGKM | 1 | Homo sapiens | G320 | IIHGSGKTGKM | 1 | Mus musculus | G320 | IIHSSGKMGKM | 1 | Rattus norvegicus | G320 | IIHSSGATGKM | 1 | Bos taurus | H155 | ESVLVHGASGG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H200 | HEVFNHKEANY | 2 | Mus musculus, Rattus norvegicus | H200 | HEVFNHREVNY | 1 | Homo sapiens | H200 | HKVFNHKEADY | 1 | Bos taurus | I131 | GAAIGIPYFTA | 2 | Homo sapiens, Bos taurus | I131 | GAALGIPYFTA | 2 | Mus musculus, Rattus norvegicus | I315 | EAHENIIHGSG | 1 | Homo sapiens | I315 | QAHEDIIHGSG | 1 | Mus musculus | I315 | QAHEDIIHSSG | 1 | Rattus norvegicus | I315 | QAHENIIHSSG | 1 | Bos taurus | L225 | IIIEMLANVNL | 1 | Homo sapiens | L225 | VIIEMLANENL | 1 | Mus musculus | L225 | VIIEMLANKNL | 1 | Rattus norvegicus | L225 | VIIEMLANVNL | 1 | Bos taurus | L271 | IIGVTLFSSTK | 1 | Homo sapiens | L271 | IIGVSLSSSTK | 1 | Mus musculus | L271 | IIGVSLFSSTK | 1 | Rattus norvegicus | L271 | IKGVTLFSSTK | 1 | Bos taurus | N229 | MLANVNLSKDL | 1 | Homo sapiens | N229 | MLANENLSNDL | 1 | Mus musculus | N229 | MLANKNLSNDL | 1 | Rattus norvegicus | N229 | MLANVNLSNDL | 1 | Bos taurus | P49 | ACGVNPVETYI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P49 | ACGVNPVDTYI | 1 | Bos taurus | R249 | IVVGSRGTIEI | 2 | Homo sapiens, Bos taurus | R249 | VVVGCRGPIEI | 1 | Mus musculus | R249 | IVVGCRGSIEI | 1 | Rattus norvegicus | S158 | LVHGASGGVGL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S158 | LVHGASGGVGI | 1 | Bos taurus | T135 | GIPYFTAYRAL | 2 | Homo sapiens, Bos taurus | T135 | GIPYFTACRAL | 2 | Mus musculus, Rattus norvegicus | T270 | SIIGVTLFSST | 1 | Homo sapiens | T270 | SIIGVSLSSST | 1 | Mus musculus | T270 | SIIGVSLFSST | 1 | Rattus norvegicus | T270 | SIKGVTLFSST | 1 | Bos taurus | V161 | GASGGVGLATC | 2 | Mus musculus, Rattus norvegicus | V161 | GASGGVGLAAC | 1 | Homo sapiens | V161 | GASGGVGIAAC | 1 | Bos taurus | V246 | GRVIVVGSRGT | 2 | Homo sapiens, Bos taurus | V246 | GRVVVVGCRGP | 1 | Mus musculus | V246 | GRVIVVGCRGS | 1 | Rattus norvegicus | V269 | SSIIGVTLFSS | 1 | Homo sapiens | V269 | TSIIGVSLSSS | 1 | Mus musculus | V269 | TSIIGVSLFSS | 1 | Rattus norvegicus | V269 | SSIKGVTLFSS | 1 | Bos taurus | Y53 | NPVETYIRSGT | 2 | Homo sapiens, Rattus norvegicus | Y53 | NPVETYIRSGA | 1 | Mus musculus | Y53 | NPVDTYIRSGT | 1 | Bos taurus |
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