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mutLBSgeneDB |
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| Gene summary for APTX |
 Gene summary |
| Basic gene Info. | Gene symbol | APTX |
| Gene name | aprataxin | |
| Synonyms | AOA|AOA1|AXA1|EAOH|EOAHA|FHA-HIT | |
| Cytomap | UCSC genome browser: 9p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001195248.1, NM_001195249.1,NM_001195250.1,NM_001195251.1,NM_001195252.1, NM_001195254.1,NM_175069.2,NM_175073.2,NR_036576.1, NR_036577.1,NR_036578.1,NR_036579.1,NM_017692.2, NM_175072.1, | |
| Description | forkhead-associated domain histidine triad-like protein | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 606350 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137074 | ||
| HPRD : 05892 | ||
| Vega : OTTHUMG00000019759 | ||
| Protein | UniProt: Q7Z2E3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_APTX | |
| BioGPS: 54840 | ||
| Pathway | NCI Pathway Interaction Database: APTX | |
| KEGG: APTX | ||
| REACTOME: APTX | ||
| Pathway Commons: APTX | ||
| Context | iHOP: APTX | |
| ligand binding site mutation search in PubMed: APTX | ||
| UCL Cancer Institute: APTX | ||
| 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:0000012 | single strand break repair | 14755728 | GO:0000738 | DNA catabolic process, exonucleolytic | 16547001 | GO:0006302 | double-strand break repair | 17519253 | GO:0016311 | dephosphorylation | 17519253 | GO:0042542 | response to hydrogen peroxide | 15044383 | GO:0098506 | polynucleotide 3' dephosphorylation | 17519253 |
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| Ligand binding site mutations for APTX |
| 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 | M194 | P192H | COAD | 1 | C333 | R332H | 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 APTX |
| 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 | C333 | R332H | -1.3757206 | M194 | P192H | -0.93542508 |
| (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 APTX from PDB |
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| Differential gene expression and gene-gene network for APTX |
| 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 APTX |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1859598 | Early-onset ataxia with oculomotor apraxia and hypoalbuminemia | 21 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for APTX |
| 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 APTX go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of APTX |
| Multiple alignments for Q7Z2E3 in multiple species |
| LBS | AA sequence | # species | Species | C333 | KLPLRCHECQQ | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | C333 | KLPLRCHVCGK | 1 | Danio rerio | C333 | KTPLMCHICRK | 1 | Xenopus tropicalis | C336 | LRCHECQQLLP | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | C336 | LRCHVCGKEQT | 1 | Danio rerio | C336 | LMCHICRKEQA | 1 | Xenopus tropicalis | D207 | VVVIKDKYPKA | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | G184 | GHWSQGLKISM | 4 | Homo sapiens, Rattus norvegicus, Bos taurus, Canis lupus familiaris | G184 | GHWSQGLKASM | 2 | Danio rerio, Xenopus tropicalis | G184 | GHWSQGLKMSM | 1 | Mus musculus | H180 | KESLGHWSQGL | 4 | Homo sapiens, Mus musculus, Bos taurus, Canis lupus familiaris | H180 | -ESAGHWSQGL | 1 | Danio rerio | H180 | VKSQGHWSQGL | 1 | Xenopus tropicalis | H180 | EESLGHWSQGL | 1 | Rattus norvegicus | H215 | PKARYHWLVLP | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Canis lupus familiaris | H215 | PKARHHWLVLP | 2 | Mus musculus, Rattus norvegicus | H215 | PKARFHWLVLP | 1 | Bos taurus | H265 | FRLGYHAIPSM | 6 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | H265 | FQLGYHAIPSM | 1 | Xenopus tropicalis | H274 | SMSHVHLHVIS | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | H276 | SHVHLHVISQD | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | H292 | LKNKKHWNSFN | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | H292 | LKNKKHWNSFT | 2 | Danio rerio, Xenopus tropicalis | H349 | PQLKEHLRKHW | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H349 | PKLKDHLKTHL | 1 | Danio rerio | H349 | PQLKEHLKKHW | 1 | Xenopus tropicalis | H349 | PQLKEHLRRHW | 1 | Canis lupus familiaris | I205 | EQVVVIKDKYP | 3 | Homo sapiens, Bos taurus, Canis lupus familiaris | I205 | DQVVVIKDKYP | 2 | Mus musculus, Rattus norvegicus | I205 | DSVVVIKDKYP | 1 | Danio rerio | I205 | DKVVVIKDKYP | 1 | Xenopus tropicalis | I343 | QLLPSIPQLKE | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | I343 | KEQTTIPKLKD | 1 | Danio rerio | I343 | KEQANMPQLKE | 1 | Xenopus tropicalis | K206 | QVVVIKDKYPK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | K206 | SVVVIKDKYPK | 1 | Danio rerio | K206 | KVVVIKDKYPK | 1 | Xenopus tropicalis | K208 | VVIKDKYPKAR | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | K211 | KDKYPKARYHW | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Canis lupus familiaris | K211 | KDKYPKARHHW | 2 | Mus musculus, Rattus norvegicus | K211 | KDKYPKARFHW | 1 | Bos taurus | K288 | DSPCLKNKKHW | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | K290 | PCLKNKKHWNS | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | K291 | CLKNKKHWNSF | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | K328 | MPELLKLPLRC | 3 | Homo sapiens, Bos taurus, Canis lupus familiaris | K328 | TCELLKLPLRC | 2 | Mus musculus, Rattus norvegicus | K328 | AGELLKLPLRC | 1 | Danio rerio | K328 | VSELLKTPLMC | 1 | Xenopus tropicalis | L185 | HWSQGLKISMQ | 2 | Homo sapiens, Canis lupus familiaris | L185 | HWSQGLKASMQ | 2 | Danio rerio, Xenopus tropicalis | L185 | HWSQGLKMSMK | 1 | Mus musculus | L185 | HWSQGLKISMK | 1 | Rattus norvegicus | L185 | HWSQGLKISME | 1 | Bos taurus | L217 | ARYHWLVLPWQ | 2 | Danio rerio, Xenopus tropicalis | L217 | ARHHWLVLPWA | 2 | Mus musculus, Rattus norvegicus | L217 | ARYHWLVLPWT | 1 | Homo sapiens | L217 | ARFHWLVLPWA | 1 | Bos taurus | L217 | ARYHWLVLPWA | 1 | Canis lupus familiaris | M194 | MQDPKMQVYKD | 3 | Homo sapiens, Danio rerio, Canis lupus familiaris | M194 | MKDPKMQVYKD | 2 | Mus musculus, Rattus norvegicus | M194 | MQDPTMQVFKD | 1 | Xenopus tropicalis | M194 | MEDPKMQVYKD | 1 | Bos taurus | M270 | HAIPSMSHVHL | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | P268 | GYHAIPSMSHV | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | P344 | LLPSIPQLKEH | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | P344 | EQTTIPKLKDH | 1 | Danio rerio | P344 | EQANMPQLKEH | 1 | Xenopus tropicalis | S188 | QGLKISMQDPK | 2 | Homo sapiens, Canis lupus familiaris | S188 | QGLKASMQDPK | 1 | Danio rerio | S188 | QGLKASMQDPT | 1 | Xenopus tropicalis | S188 | QGLKMSMKDPK | 1 | Mus musculus | S188 | QGLKISMKDPK | 1 | Rattus norvegicus | S188 | QGLKISMEDPK | 1 | Bos taurus | S269 | YHAIPSMSHVH | 7 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | S342 | QQLLPSIPQLK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | S342 | GKEQTTIPKLK | 1 | Danio rerio | S342 | RKEQANMPQLK | 1 | Xenopus tropicalis | W181 | ESLGHWSQGLK | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus, Canis lupus familiaris | W181 | ESAGHWSQGLK | 1 | Danio rerio | W181 | KSQGHWSQGLK | 1 | Xenopus tropicalis | Y209 | VIKDKYPKARY | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Canis lupus familiaris | Y209 | VIKDKYPKARH | 2 | Mus musculus, Rattus norvegicus | Y209 | VIKDKYPKARF | 1 | Bos taurus |
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