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mutLBSgeneDB |
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| Gene summary for UNC119 |
 Gene summary |
| Basic gene Info. | Gene symbol | UNC119 |
| Gene name | unc-119 homolog (C. elegans) | |
| Synonyms | HRG4|IMD13|POC7|POC7A | |
| Cytomap | UCSC genome browser: 17q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005148.3, NM_054035.2, | |
| Description | POC7 centriolar protein homolog Aprotein unc-119 homolog Aretinal protein 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604011 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109103 | ||
| HPRD : 04927 | ||
| Vega : OTTHUMG00000132606 | ||
| Protein | UniProt: Q13432 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_UNC119 | |
| BioGPS: 9094 | ||
| Pathway | NCI Pathway Interaction Database: UNC119 | |
| KEGG: UNC119 | ||
| REACTOME: UNC119 | ||
| Pathway Commons: UNC119 | ||
| Context | iHOP: UNC119 | |
| ligand binding site mutation search in PubMed: UNC119 | ||
| UCL Cancer Institute: UNC119 | ||
| 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:0042953 | lipoprotein transport | 21642972 |
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| Ligand binding site mutations for UNC119 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D87 | K85E | BRCA | 1 | R127 | R127C | COAD | 1 | I93 | R94L | LUAD | 1 | N230,Y234 | A232S | UCEC | 1 | I93 | R94W | UCEC | 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 UNC119 |
| 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 | I93 | R94W | -1.3388624 | N230 | A232S | -1.2335783 | Y234 | A232S | -1.2335783 | I93 | R94L | -1.0649291 | R127 | R127C | -0.96725486 | D87 | K85E | -0.68633324 |
| (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 UNC119 from PDB |
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| Differential gene expression and gene-gene network for UNC119 |
| 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 UNC119 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0035334 | Retinitis Pigmentosa | 3 | Biomarker |
| umls:C3809768 | IMMUNODEFICIENCY 13 | 2 | GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for UNC119 |
| 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 UNC119 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (DAO,GLY,ALA,GLY,ALA,SER,ALA,GLU) | 3rbq | A | D87 I93 R127 N230 Y234 | III | Peptide ligand (DAO,GLY,ALA,GLY,ALA) | 3rbq | C | I93 R127 N230 Y234 | III | Peptide ligand (DAO,GLY,ALA,GLY,ALA,SER,ALA,GLU,GLU,LYS) | 3rbq | F | I93 R127 N230 Y234 | III | Peptide ligand (DAO,GLY,ALA,GLY) | 3rbq | E | N230 Y234 | III | Peptide ligand (DAO,GLY,ALA,GLY,ALA,SER,ALA,GLU,GLU) | 3rbq | B | R127 N230 Y234 | III | Peptide ligand (DAO,GLY,ALA,GLY,ALA) | 3rbq | D | R127 N230 Y234 |
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| Conservation information for LBS of UNC119 |
| Multiple alignments for Q13432 in multiple species |
| LBS | AA sequence | # species | Species | A125 | DLDPNAGRFVR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | A125 | A-DPNAGRYVR | 1 | Drosophila melanogaster | D87 | NIYKIDFVRFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D87 | NVFEIDFTRFK | 1 | Drosophila melanogaster | E163 | NFRMIERHYFR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E163 | NFRMIERHFFR | 1 | Drosophila melanogaster | F128 | PNAGRFVRYQF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F128 | PNAGRYVRYQF | 1 | Drosophila melanogaster | F175 | QLLKSFDFHFG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F175 | RLLKTFDFEFG | 1 | Drosophila melanogaster | F196 | EHIYDFPPLSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F196 | EHIYEFPNLPP | 1 | Drosophila melanogaster | F196 | EHIYDFPALSE | 1 | Bos taurus | F88 | IYKIDFVRFKI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F88 | VFEIDFTRFKI | 1 | Drosophila melanogaster | F91 | IDFVRFKIRDM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F91 | IDFTRFKIRDL | 1 | Drosophila melanogaster | G126 | LDPNAGRFVRY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | G126 | -DPNAGRYVRY | 1 | Drosophila melanogaster | H165 | RMIERHYFRNQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H165 | RMIERHFFRDR | 1 | Drosophila melanogaster | I105 | TVLFEIKKPP- | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I105 | AVLFEIAKPPS | 1 | Drosophila melanogaster | I93 | FVRFKIRDMDS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I93 | FTRFKIRDLES | 1 | Drosophila melanogaster | L172 | FRNQLLKSFDF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | L172 | FRDRLLKTFDF | 1 | Drosophila melanogaster | M228 | DDRLVMHNKAD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M228 | GNRLVMHNKAD | 1 | Drosophila melanogaster | N230 | RLVMHNKADYS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | N230 | RLVMHNKADYA | 1 | Drosophila melanogaster | P123 | RRDLDPNAGRF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P123 | DTA-DPNAGRY | 1 | Drosophila melanogaster | P123 | PRDLDPNAGRF | 1 | Bos taurus | P197 | HIYDFPPLSEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P197 | HIYEFPNLPPD | 1 | Drosophila melanogaster | P197 | HIYDFPALSEE | 1 | Bos taurus | R127 | DPNAGRFVRYQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R127 | DPNAGRYVRYQ | 1 | Drosophila melanogaster | S218 | ETQSDSFYFVD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S218 | ETRSDSFYFVG | 1 | Drosophila melanogaster | V129 | NAGRFVRYQFT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V129 | NAGRYVRYQFT | 1 | Drosophila melanogaster | V147 | QVGATVEFTVG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V147 | TVGATVEFTVG | 1 | Drosophila melanogaster | Y131 | GRFVRYQFTPA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y131 | GRYVRYQFTPA | 1 | Drosophila melanogaster | Y194 | TCEHIYDFPPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y194 | TVEHIYEFPNL | 1 | Drosophila melanogaster | Y194 | TCEHIYDFPAL | 1 | Bos taurus | Y220 | QSDSFYFVDDR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y220 | RSDSFYFVGNR | 1 | Drosophila melanogaster | Y234 | HNKADYSYSGT | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y234 | HNKADYAYDGG | 1 | Drosophila melanogaster |
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