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mutLBSgeneDB |
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| Gene summary for THAP4 |
 Gene summary |
| Basic gene Info. | Gene symbol | THAP4 |
| Gene name | THAP domain containing 4 | |
| Synonyms | PP238 | |
| Cytomap | UCSC genome browser: 2q37.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164356.1, NM_015963.5, | |
| Description | THAP domain-containing protein 4 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 612533 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000176946 | ||
| HPRD : 11630 | ||
| Vega : OTTHUMG00000133410 | ||
| Protein | UniProt: Q8WY91 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_THAP4 | |
| BioGPS: 51078 | ||
| Pathway | NCI Pathway Interaction Database: THAP4 | |
| KEGG: THAP4 | ||
| REACTOME: THAP4 | ||
| Pathway Commons: THAP4 | ||
| Context | iHOP: THAP4 | |
| ligand binding site mutation search in PubMed: THAP4 | ||
| UCL Cancer Institute: THAP4 | ||
| 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 THAP4 |
| 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 | H480 | R481T | HNSC | 1 | M557 | M557I | STAD | 1 | H567 | H567R | 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 THAP4 |
| 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 | H480 | R481T | -0.79083508 | M557 | M557I | -0.52533793 | H567 | H567R | -0.43701867 |
| (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 THAP4 from PDB |
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| Differential gene expression and gene-gene network for THAP4 |
| 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 THAP4 |
| 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 THAP4 |
| 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 THAP4 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 THAP4 |
| Multiple alignments for Q8WY91 in multiple species |
| LBS | AA sequence | # species | Species | F448 | PTLQPFQYLEE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F448 | PTIPSFRYGEE | 1 | Arabidopsis thaliana | F448 | PTLQPFRYLEE | 1 | Bos taurus | H480 | THKPMHRECGF | 3 | Bos taurus, Mus musculus, Rattus norvegicus | H480 | TRKPMHRECGF | 1 | Homo sapiens | H480 | SGAPMHAESGY | 1 | Arabidopsis thaliana | H567 | QPMTQHLHITY | 2 | Mus musculus, Rattus norvegicus | H567 | QPMTQHLHVTY | 1 | Homo sapiens | H567 | NPLQPHLKAIL | 1 | Arabidopsis thaliana | H567 | QPLTQHLHVTY | 1 | Bos taurus | I539 | PHVEQITRKFR | 3 | Homo sapiens, Bos taurus, Mus musculus | I539 | -KVKEISREFE | 1 | Arabidopsis thaliana | I539 | PHVQQITRKFR | 1 | Rattus norvegicus | L445 | GTFPTLQPFQY | 2 | Mus musculus, Rattus norvegicus | L445 | GTYPTLQPFQY | 1 | Homo sapiens | L445 | GEYPTIPSFRY | 1 | Arabidopsis thaliana | L445 | GTFPTLQPFRY | 1 | Bos taurus | L568 | PMTQHLHITYK | 2 | Mus musculus, Rattus norvegicus | L568 | PMTQHLHVTYK | 1 | Homo sapiens | L568 | PLQPHLKAILD | 1 | Arabidopsis thaliana | L568 | PLTQHLHVTYK | 1 | Bos taurus | M479 | ETHKPMHRECG | 2 | Mus musculus, Rattus norvegicus | M479 | DTRKPMHRECG | 1 | Homo sapiens | M479 | ESGAPMHAESG | 1 | Arabidopsis thaliana | M479 | DTHKPMHRECG | 1 | Bos taurus | M557 | EQTVSMATTTQ | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | M557 | SYVVRMSTTTN | 1 | Arabidopsis thaliana | P534 | SFAKEPHVEQI | 3 | Homo sapiens, Bos taurus, Mus musculus | P534 | S-----KVKEI | 1 | Arabidopsis thaliana | P534 | SFAKEPHVQQI | 1 | Rattus norvegicus | R541 | VEQITRKFRLN | 3 | Homo sapiens, Bos taurus, Mus musculus | R541 | VKEISREFEL- | 1 | Arabidopsis thaliana | R541 | VQQITRKFRLN | 1 | Rattus norvegicus | S470 | NFSFNSFHPET | 2 | Mus musculus, Rattus norvegicus | S470 | NFSFNSFHPDT | 1 | Homo sapiens | S470 | AYTQKTWKLES | 1 | Arabidopsis thaliana | S470 | NFSFNAFHPDT | 1 | Bos taurus | T444 | VGTFPTLQPFQ | 2 | Mus musculus, Rattus norvegicus | T444 | AGTYPTLQPFQ | 1 | Homo sapiens | T444 | EGEYPTIPSFR | 1 | Arabidopsis thaliana | T444 | AGTFPTLQPFR | 1 | Bos taurus | T559 | TVSMATTTQPM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T559 | VVRMSTTTNPL | 1 | Arabidopsis thaliana | T559 | TVSMATTTQPL | 1 | Bos taurus | V555 | KLEQTVSMATT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V555 | KLSYVVRMSTT | 1 | Arabidopsis thaliana | V555 | NLEQTVSMATT | 1 | Bos taurus | Y450 | LQPFQYLEEVH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y450 | IPSFRYGEEIR | 1 | Arabidopsis thaliana | Y450 | LQPFRYLEEAH | 1 | Bos taurus |
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