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mutLBSgeneDB |
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| Gene summary for OGFOD1 |
 Gene summary |
| Basic gene Info. | Gene symbol | OGFOD1 |
| Gene name | 2-oxoglutarate and iron-dependent oxygenase domain containing 1 | |
| Synonyms | TPA1 | |
| Cytomap | UCSC genome browser: 16q12.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018233.3, | |
| Description | 2-oxoglutarate and iron-dependent oxygenase domain-containing protein 1TPA1, termination and polyadenylation 1, homologprolyl 3-hydroxylase OGFOD1termination and polyadenylation 1 homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 615857 | |
| HGNC : HGNC | ||
| HPRD : 08553 | ||
| Protein | UniProt: Q8N543 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_OGFOD1 | |
| BioGPS: 55239 | ||
| Pathway | NCI Pathway Interaction Database: OGFOD1 | |
| KEGG: OGFOD1 | ||
| REACTOME: OGFOD1 | ||
| Pathway Commons: OGFOD1 | ||
| Context | iHOP: OGFOD1 | |
| ligand binding site mutation search in PubMed: OGFOD1 | ||
| UCL Cancer Institute: OGFOD1 | ||
| 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:0018126 | protein hydroxylation | 24550447 | GO:0019511 | peptidyl-proline hydroxylation | 24550447 |
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| Ligand binding site mutations for OGFOD1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R230 | R230C | STAD | 1 | W236 | H238R | 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 OGFOD1 |
| 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 | R230 | R230C | -0.90853072 | W236 | H238R | -0.14431727 |
| (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 OGFOD1 from PDB |
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| Differential gene expression and gene-gene network for OGFOD1 |
| 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 OGFOD1 |
| 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 OGFOD1 |
| 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|nutraceutical | DB00126 | Vitamin C | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of OGFOD1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | OGA | N-OXALYLGLYCINE | 4nhx | A | R230 | PD2 | LUTIDINIC ACID | 4nhy | A | R230 W236 | PD2 | LUTIDINIC ACID | 4nhy | B | R230 W236 | PD2 | LUTIDINIC ACID | 4nhy | C | R230 W236 | PD2 | LUTIDINIC ACID | 4nhy | D | R230 W236 | MN | MANGANESE(2+) | 4nhy | D | W236 |
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| Conservation information for LBS of OGFOD1 |
| Multiple alignments for Q8N543 in multiple species |
| LBS | AA sequence | # species | Species | D157 | LLCHDDELEGR | 3 | Homo sapiens, Mus musculus, Bos taurus | H155 | DALLCHDDELE | 3 | Homo sapiens, Mus musculus, Bos taurus | H218 | SPVSFHQVSEV | 3 | Homo sapiens, Mus musculus, Bos taurus | I167 | RRIAFILYLVP | 3 | Homo sapiens, Mus musculus, Bos taurus | L152 | EFTDALLCHDD | 2 | Homo sapiens, Mus musculus | L152 | EFSDALLCHDD | 1 | Bos taurus | L182 | SMGGTLDLYSI | 1 | Homo sapiens | L182 | DLGGTLDLYDT | 1 | Mus musculus | L182 | SLGGTLDLFSV | 1 | Bos taurus | R230 | SEEKSRLSISG | 2 | Homo sapiens, Bos taurus | R230 | SEETSRLSISG | 1 | Mus musculus | S232 | EKSRLSISGWF | 2 | Homo sapiens, Bos taurus | S232 | ETSRLSISGWF | 1 | Mus musculus | V220 | VSFHQVSEVLS | 3 | Homo sapiens, Mus musculus, Bos taurus | W236 | LSISGWFHGPS | 2 | Homo sapiens, Bos taurus | W236 | LSISGWFYGPS | 1 | Mus musculus | Y169 | IAFILYLVPPW | 2 | Homo sapiens, Bos taurus | Y169 | IAFILYLVPSW | 1 | Mus musculus |
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