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mutLBSgeneDB |
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| Gene summary for CRYL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | CRYL1 |
| Gene name | crystallin, lambda 1 | |
| Synonyms | GDH|HEL30|lambda-CRY | |
| Cytomap | UCSC genome browser: 13q12.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015974.2, | |
| Description | L-gulonate 3-dehydrogenasecrystallin, lamda 1epididymis luminal protein 30gul3DHlambda-crystallin homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609877 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000165475 | ||
| HPRD : 16762 | ||
| Vega : OTTHUMG00000016516 | ||
| Protein | UniProt: Q9Y2S2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CRYL1 | |
| BioGPS: 51084 | ||
| Pathway | NCI Pathway Interaction Database: CRYL1 | |
| KEGG: CRYL1 | ||
| REACTOME: CRYL1 | ||
| Pathway Commons: CRYL1 | ||
| Context | iHOP: CRYL1 | |
| ligand binding site mutation search in PubMed: CRYL1 | ||
| UCL Cancer Institute: CRYL1 | ||
| 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 CRYL1 |
| 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 | Y255 | E257K | COAD | 1 | Y255 | D253N | COAD | 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 CRYL1 |
| 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 | Y255 | D253N | -0.67269154 | Y255 | E257K | -0.13581721 |
| (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 CRYL1 from PDB |
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| Differential gene expression and gene-gene network for CRYL1 |
| 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 CRYL1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0520459 | Enterocolitis, Necrotizing | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CRYL1 |
| 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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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of CRYL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAD | NAD ZWITTERION | 3f3s | A | Y255 |
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| Conservation information for LBS of CRYL1 |
| Multiple alignments for Q9Y2S2 in multiple species |
| LBS | AA sequence | # species | Species | C94 | MHIQECVPEDL | 1 | Homo sapiens | C94 | LHVQECVPENL | 1 | Bos taurus | C94 | VHIQECVPENL | 1 | Mus musculus | C94 | MHIQECVPENL | 1 | Rattus norvegicus | D36 | KVKLYDIEQQQ | 2 | Mus musculus, Rattus norvegicus | D36 | QVKLYDIEQQQ | 1 | Homo sapiens | D36 | RVKLFDIEPRQ | 1 | Bos taurus | E97 | QECVPENLELK | 3 | Bos taurus, Mus musculus, Rattus norvegicus | E97 | QECVPEDLELK | 1 | Homo sapiens | G13 | CVVIVGSGVIG | 1 | Homo sapiens | G13 | GVAVVGSGLIG | 1 | Bos taurus | G13 | GVVIVGSGLIG | 1 | Mus musculus | G13 | GVVIIGSGLIG | 1 | Rattus norvegicus | G15 | VIVGSGVIGRS | 1 | Homo sapiens | G15 | AVVGSGLIGRS | 1 | Bos taurus | G15 | VIVGSGLIGRS | 1 | Mus musculus | G15 | VIIGSGLIGRS | 1 | Rattus norvegicus | H145 | QCIVAHPVNPP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H145 | QCLVAHPVNPP | 1 | Bos taurus | I105 | ELKKKIFAQLD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I105 | ELKRKLFAQLD | 1 | Bos taurus | I17 | VGSGLIGRSWA | 2 | Bos taurus, Mus musculus | I17 | VGSGVIGRSWA | 1 | Homo sapiens | I17 | IGSGLIGRSWA | 1 | Rattus norvegicus | I37 | VKLYDIEQQQI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I37 | VKLFDIEPRQV | 1 | Bos taurus | K102 | ENLELKKKIFA | 2 | Mus musculus, Rattus norvegicus | K102 | EDLELKKKIFA | 1 | Homo sapiens | K102 | ENLELKRKLFA | 1 | Bos taurus | L101 | PENLELKKKIF | 2 | Mus musculus, Rattus norvegicus | L101 | PEDLELKKKIF | 1 | Homo sapiens | L101 | PENLELKRKLF | 1 | Bos taurus | N148 | VAHPVNPPYYV | 3 | Bos taurus, Mus musculus, Rattus norvegicus | N148 | VAHPVNPPYYI | 1 | Homo sapiens | N244 | ETMHLNAEGML | 2 | Homo sapiens, Bos taurus | N244 | ETMHLNAEGVI | 1 | Mus musculus | N244 | ETMHLNAEGMV | 1 | Rattus norvegicus | P146 | CIVAHPVNPPY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P146 | CLVAHPVNPPY | 1 | Bos taurus | P96 | IQECVPENLEL | 2 | Mus musculus, Rattus norvegicus | P96 | IQECVPEDLEL | 1 | Homo sapiens | P96 | VQECVPENLEL | 1 | Bos taurus | S122 | VILSSSSSCLL | 3 | Bos taurus, Mus musculus, Rattus norvegicus | S122 | VILSSSTSCLM | 1 | Homo sapiens | S124 | LSSSSSCLLPS | 3 | Bos taurus, Mus musculus, Rattus norvegicus | S124 | LSSSTSCLMPS | 1 | Homo sapiens | T123 | ILSSSSSCLLP | 3 | Bos taurus, Mus musculus, Rattus norvegicus | T123 | ILSSSTSCLMP | 1 | Homo sapiens | V16 | IVGSGVIGRSW | 1 | Homo sapiens | V16 | VVGSGLIGRSW | 1 | Bos taurus | V16 | IVGSGLIGRSW | 1 | Mus musculus | V16 | IIGSGLIGRSW | 1 | Rattus norvegicus | V95 | HIQECVPENLE | 2 | Mus musculus, Rattus norvegicus | V95 | HIQECVPEDLE | 1 | Homo sapiens | V95 | HVQECVPENLE | 1 | Bos taurus | Y255 | SYCDRYSEGIK | 1 | Homo sapiens | Y255 | SYCDRYGEGMK | 1 | Bos taurus | Y255 | SYCERYSEGMK | 1 | Mus musculus | Y255 | SYCDRYSEGMK | 1 | Rattus norvegicus | Y35 | FKVKLYDIEQQ | 2 | Mus musculus, Rattus norvegicus | Y35 | FQVKLYDIEQQ | 1 | Homo sapiens | Y35 | FRVKLFDIEPR | 1 | Bos taurus |
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