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mutLBSgeneDB |
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| Gene summary for ALKBH7 |
 Gene summary |
| Basic gene Info. | Gene symbol | ALKBH7 |
| Gene name | alkB, alkylation repair homolog 7 (E. coli) | |
| Synonyms | ABH7|SPATA11|UNQ6002 | |
| Cytomap | UCSC genome browser: 19p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_032306.3, | |
| Description | alkylated DNA repair protein alkB homolog 7alpha-ketoglutarate-dependent dioxygenase alkB homolog 7, mitochondrialprobable alpha-ketoglutarate-dependent dioxygenase ABH7spermatogenesis associated 11spermatogenesis cell proliferation related proteinsp | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 613305 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125652 | ||
| HPRD : 15425 | ||
| Vega : OTTHUMG00000180792 | ||
| Protein | UniProt: Q9BT30 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALKBH7 | |
| BioGPS: 84266 | ||
| Pathway | NCI Pathway Interaction Database: ALKBH7 | |
| KEGG: ALKBH7 | ||
| REACTOME: ALKBH7 | ||
| Pathway Commons: ALKBH7 | ||
| Context | iHOP: ALKBH7 | |
| ligand binding site mutation search in PubMed: ALKBH7 | ||
| UCL Cancer Institute: ALKBH7 | ||
| 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:0006974 | cellular response to DNA damage stimulus | 23666923 |
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| Ligand binding site mutations for ALKBH7 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M143 | M143I | BRCA | 1 | R203 | R203S | KIRC | 1 | E75 | T76I | STAD | 1 | R197 | R197H | 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 ALKBH7 |
| 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 | R203 | R203S | -0.89957518 | E75 | T76I | -0.69090133 | R197 | R197H | -0.55156273 | M143 | M143I | -0.35775358 |
| (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 ALKBH7 from PDB |
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| Differential gene expression and gene-gene network for ALKBH7 |
| 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 ALKBH7 |
| 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 ALKBH7 |
| 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 ALKBH7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 4qkb | A | E75 | MN | MANGANESE(2+) | 4qkb | B | E75 | MN | MANGANESE(2+) | 4qkb | C | E75 | MN | MANGANESE(2+) | 4qkd | A | E75 | MN | MANGANESE(2+) | 4qkd | B | E75 | MN | MANGANESE(2+) | 4qkd | C | E75 | AKG | 2-OXOGLUTARIC ACID | 4qkb | A | M143 R197 R203 | AKG | 2-OXOGLUTARIC ACID | 4qkb | B | M143 R197 R203 | AKG | 2-OXOGLUTARIC ACID | 4qkb | C | M143 R197 R203 | AKG | 2-OXOGLUTARIC ACID | 4qkd | A | R197 R203 | AKG | 2-OXOGLUTARIC ACID | 4qkd | B | R197 R203 | AKG | 2-OXOGLUTARIC ACID | 4qkd | C | R197 R203 | OGA | N-OXALYLGLYCINE | 4qkf | A | R197 R203 | OGA | N-OXALYLGLYCINE | 4qkf | C | R197 R203 | MN | MANGANESE(2+) | 4qkb | C | R203 |
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| Conservation information for LBS of ALKBH7 |
| Multiple alignments for Q9BT30 in multiple species |
| LBS | AA sequence | # species | Species | D123 | IKPHVDSIKFC | 2 | Homo sapiens, Bos taurus | D123 | IKPHVDSVKFC | 1 | Mus musculus | E62 | RRRRYEYDHWD | 3 | Homo sapiens, Mus musculus, Bos taurus | E75 | IHGFRETEKSR | 2 | Homo sapiens, Bos taurus | E75 | IHGFRETEKSC | 1 | Mus musculus | H108 | LLSSVHVLDLE | 2 | Homo sapiens, Bos taurus | H108 | LLSPVHVLDLE | 1 | Mus musculus | H121 | GYIKPHVDSIK | 2 | Homo sapiens, Bos taurus | H121 | GYIKPHVDSVK | 1 | Mus musculus | H177 | RYDFSHEILRD | 3 | Homo sapiens, Mus musculus, Bos taurus | I118 | EARGYIKPHVD | 1 | Homo sapiens | I118 | EPRGYIKPHVD | 1 | Mus musculus | I118 | EPQGYIKPHVD | 1 | Bos taurus | I179 | DFSHEILRDEE | 3 | Homo sapiens, Mus musculus, Bos taurus | I201 | RRISVICRSLP | 3 | Homo sapiens, Mus musculus, Bos taurus | I70 | HWDAAIHGFRE | 3 | Homo sapiens, Mus musculus, Bos taurus | L110 | SSVHVLDLEAR | 1 | Homo sapiens | L110 | SPVHVLDLEPR | 1 | Mus musculus | L110 | SSVHVLDLEPQ | 1 | Bos taurus | M143 | LSPSVMRLVHT | 2 | Homo sapiens, Bos taurus | M143 | LSPSVMKLVHT | 1 | Mus musculus | R197 | IPRGRRISVIC | 2 | Homo sapiens, Bos taurus | R197 | VPRGRRISVIC | 1 | Mus musculus | R203 | ISVICRSLPEG | 3 | Homo sapiens, Mus musculus, Bos taurus | S199 | RGRRISVICRS | 3 | Homo sapiens, Mus musculus, Bos taurus | Y165 | EPGSLYILRGS | 3 | Homo sapiens, Mus musculus, Bos taurus |
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