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mutLBSgeneDB |
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| Gene summary for HGD |
 Gene summary |
| Basic gene Info. | Gene symbol | HGD |
| Gene name | homogentisate 1,2-dioxygenase | |
| Synonyms | AKU|HGO | |
| Cytomap | UCSC genome browser: 3q13.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000187.3, | |
| Description | homogentisate oxidasehomogentisate oxygenasehomogentisic acid oxidasehomogentisicase | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607474 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113924 | ||
| HPRD : 06315 | ||
| Vega : OTTHUMG00000159441 | ||
| Protein | UniProt: Q93099 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HGD | |
| BioGPS: 3081 | ||
| Pathway | NCI Pathway Interaction Database: HGD | |
| KEGG: HGD | ||
| REACTOME: HGD | ||
| Pathway Commons: HGD | ||
| Context | iHOP: HGD | |
| ligand binding site mutation search in PubMed: HGD | ||
| UCL Cancer Institute: HGD | ||
| 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 HGD |
| 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 | E341 | M343I | LUAD | 1 | H371 | T369A | SKCM | 1 | H371 | P370L | SKCM | 1 | H335 | R336K | 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 HGD |
| 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 | H371 | T369A | -1.2310802 | H335 | R336K | -0.99203188 | H371 | P370L | -0.88339025 | E341 | M343I | -0.33303386 |
| (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 HGD from PDB |
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| Differential gene expression and gene-gene network for HGD |
| 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 HGD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0002066 | Alkaptonuria | 34 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HGD |
| 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 HGD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE2 | IRON(2+) | 1ey2 | A | H335 E341 H371 |
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| Conservation information for LBS of HGD |
| Multiple alignments for Q93099 in multiple species |
| LBS | AA sequence | # species | Species | E341 | RNCMSEFMGLI | 5 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Mus musculus, Drosophila melanogaster | E341 | RNCMSEYMGLI | 1 | Caenorhabditis elegans | H335 | RPPYYHRNCMS | 6 | Homo sapiens, Arabidopsis thaliana, Oryza sativa subsp. japonica, Mus musculus, Drosophila melanogaster, Caenorhabditis elegans | H371 | STMTPHGPDAD | 1 | Homo sapiens | H371 | SCMTPHGPDTT | 1 | Arabidopsis thaliana | H371 | SCMTPHGPDTK | 1 | Oryza sativa subsp. japonica | H371 | SAMTPHGPDAD | 1 | Mus musculus | H371 | SMMTPHGPDVK | 1 | Drosophila melanogaster | H371 | SMMTPHGPDFN | 1 | Caenorhabditis elegans |
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