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mutLBSgeneDB |
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| Gene summary for ALKBH8 |
 Gene summary |
| Basic gene Info. | Gene symbol | ALKBH8 |
| Gene name | alkB, alkylation repair homolog 8 (E. coli) | |
| Synonyms | ABH8 | |
| Cytomap | UCSC genome browser: 11q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001301010.1, NM_138775.2, | |
| Description | AlkB homologue 8S-adenosyl-L-methionine-dependent tRNA methyltransferase ABH8alkylated DNA repair protein alkB homolog 8probable alpha-ketoglutarate-dependent dioxygenase ABH8tRNA (carboxymethyluridine(34)-5-O)-methyltransferase ABH8 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 613306 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137760 | ||
| HPRD : 14287 | ||
| Vega : OTTHUMG00000157008 | ||
| Protein | UniProt: Q96BT7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALKBH8 | |
| BioGPS: 91801 | ||
| Pathway | NCI Pathway Interaction Database: ALKBH8 | |
| KEGG: ALKBH8 | ||
| REACTOME: ALKBH8 | ||
| Pathway Commons: ALKBH8 | ||
| Context | iHOP: ALKBH8 | |
| ligand binding site mutation search in PubMed: ALKBH8 | ||
| UCL Cancer Institute: ALKBH8 | ||
| 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:0002098 | tRNA wobble uridine modification | 21285950 | GO:0006974 | cellular response to DNA damage stimulus | 20308323 | GO:0030488 | tRNA methylation | 20308323 | GO:0055114 | oxidation-reduction process | 21285950 |
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| Ligand binding site mutations for ALKBH8 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M260 | V259F | LUSC | 1 | H292 | W290C | OV | 1 | I294,H292 | G293V | 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 ALKBH8 |
| 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 | M260 | V259F | -1.1803381 | H292 | W290C | -0.58755565 | I294 | G293V | -0.12328251 | H292 | G293V | -0.12328251 |
| (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 ALKBH8 from PDB |
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| Differential gene expression and gene-gene network for ALKBH8 |
| 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 ALKBH8 |
| 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 ALKBH8 |
| 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 ALKBH8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MN | MANGANESE(2+) | 3thp | A | H292 | MN | MANGANESE(2+) | 3tht | A | H292 | MN | MANGANESE(2+) | 3tht | B | H292 | AKG | 2-OXOGLUTARIC ACID | 3tht | B | H292 | MN | MANGANESE(2+) | 3tht | C | H292 | MN | MANGANESE(2+) | 3tht | D | H292 | AKG | 2-OXOGLUTARIC ACID | 3tht | A | M260 H292 | AKG | 2-OXOGLUTARIC ACID | 3tht | D | M260 H292 | AKG | 2-OXOGLUTARIC ACID | 3thp | A | M260 H292 I294 | AKG | 2-OXOGLUTARIC ACID | 3tht | C | M260 H292 I294 |
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| Conservation information for LBS of ALKBH8 |
| Multiple alignments for Q96BT7 in multiple species |
| LBS | AA sequence | # species | Species | C341 | VRQTPCNCSYP | 2 | Homo sapiens, Bos taurus | C341 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C341 | VRHSPCDCAFP | 1 | Xenopus tropicalis | C341 | VRRMPCNCSYS | 1 | Mus musculus | C343 | QTPCNCSYPLV | 2 | Homo sapiens, Bos taurus | C343 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C343 | HSPCDCAFPSE | 1 | Xenopus tropicalis | C343 | RMPCNCSYSSV | 1 | Mus musculus | C349 | SYPLVCDS--- | 2 | Homo sapiens, Bos taurus | C349 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C349 | AFPSECDSQQT | 1 | Xenopus tropicalis | C349 | SYSSVCDR--- | 1 | Mus musculus | D240 | IPAHIDTHSAF | 3 | Homo sapiens, Mus musculus, Bos taurus | D240 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D240 | IPPHVDTHSAF | 1 | Xenopus tropicalis | H238 | HGIPAHIDTHS | 2 | Mus musculus, Bos taurus | H238 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H238 | QGIPAHIDTHS | 1 | Homo sapiens | H238 | QGIPPHVDTHS | 1 | Xenopus tropicalis | H242 | AHIDTHSAFED | 3 | Homo sapiens, Mus musculus, Bos taurus | H242 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H242 | PHVDTHSAFED | 1 | Xenopus tropicalis | H292 | RYLWTHGITPR | 3 | Xenopus tropicalis, Mus musculus, Bos taurus | H292 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H292 | RYLWTHGITCR | 1 | Homo sapiens | I235 | EPGHGIPAHID | 2 | Mus musculus, Bos taurus | I235 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I235 | EPGQGIPAHID | 1 | Homo sapiens | I235 | EPGQGIPPHVD | 1 | Xenopus tropicalis | I294 | LWTHGITPRKF | 3 | Xenopus tropicalis, Mus musculus, Bos taurus | I294 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I294 | LWTHGITCRKF | 1 | Homo sapiens | M260 | GSEIVMDFKHP | 2 | Homo sapiens, Bos taurus | M260 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M260 | GAEIVMDFKHP | 1 | Xenopus tropicalis | M260 | GSAIVMDFKHP | 1 | Mus musculus | N227 | DQLTINQYEPG | 3 | Xenopus tropicalis, Mus musculus, Bos taurus | N227 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N227 | DQMTINQYEPG | 1 | Homo sapiens | R328 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R328 | SKRGLRTSFTF | 1 | Homo sapiens | R328 | SKRSTRTSFTF | 1 | Xenopus tropicalis | R328 | SKRGMRTSFTF | 1 | Mus musculus | R328 | NKRGIRTSFTF | 1 | Bos taurus | R334 | TSFTFRKVRQT | 2 | Homo sapiens, Bos taurus | R334 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R334 | TSFTFRKVRHS | 1 | Xenopus tropicalis | R334 | TSFTFRKVRRM | 1 | Mus musculus | S251 | EDEIISLSLGS | 2 | Mus musculus, Bos taurus | S251 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S251 | EDEIVSLSLGS | 1 | Homo sapiens | S251 | EDEILSLSLGA | 1 | Xenopus tropicalis | S330 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S330 | RGLRTSFTFRK | 1 | Homo sapiens | S330 | RSTRTSFTFRK | 1 | Xenopus tropicalis | S330 | RGMRTSFTFRK | 1 | Mus musculus | S330 | RGIRTSFTFRK | 1 | Bos taurus | T332 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T332 | LRTSFTFRKVR | 1 | Homo sapiens | T332 | TRTSFTFRKVR | 1 | Xenopus tropicalis | T332 | MRTSFTFRKVR | 1 | Mus musculus | T332 | IRTSFTFRKVR | 1 | Bos taurus | Y229 | LTINQYEPGHG | 2 | Mus musculus, Bos taurus | Y229 | ----------- | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y229 | MTINQYEPGQG | 1 | Homo sapiens | Y229 | LTINQYEPGQG | 1 | Xenopus tropicalis |
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