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mutLBSgeneDB |
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| Gene summary for KIAA0020 |
 Gene summary |
| Basic gene Info. | Gene symbol | KIAA0020 |
| Gene name | KIAA0020 | |
| Synonyms | HA-8|HLA-HA8|PEN|PUF6|XTP5|hPUF-A | |
| Cytomap | UCSC genome browser: 9p24.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001031691.1, NM_014878.4, | |
| Description | HBV X-transactivated gene 5 proteinHBV XAg-transactivated protein 5minor histocompatibility antigen HA-8penguin homologprotein 5 transactivated by hepatitis B virus X antigen (HBxAg)pumilio domain-containing protein KIAA0020 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609960 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000080608 | ||
| HPRD : 08822 | ||
| Vega : OTTHUMG00000019450 | ||
| Protein | UniProt: Q15397 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_KIAA0020 | |
| BioGPS: 9933 | ||
| Pathway | NCI Pathway Interaction Database: KIAA0020 | |
| KEGG: KIAA0020 | ||
| REACTOME: KIAA0020 | ||
| Pathway Commons: KIAA0020 | ||
| Context | iHOP: KIAA0020 | |
| ligand binding site mutation search in PubMed: KIAA0020 | ||
| UCL Cancer Institute: KIAA0020 | ||
| 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 KIAA0020 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V455 | H453D | BRCA | 1 | V455,E457 | R456L | LUAD | 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 KIAA0020 |
| 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 | V455 | H453D | -0.88900893 | E457 | R456L | -0.34682356 | V455 | R456L | -0.34682356 |
| (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 KIAA0020 from PDB |
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| Differential gene expression and gene-gene network for KIAA0020 |
| 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 KIAA0020 |
| 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 KIAA0020 |
| 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 KIAA0020 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4wzw | A | E457 | NUC | Nucleic Acids | 4wzw | A | V455 |
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| Conservation information for LBS of KIAA0020 |
| Multiple alignments for Q15397 in multiple species |
| LBS | AA sequence | # species | Species | E457 | AHTVREIIEVL | 1 | Homo sapiens | E457 | RYLSHDDLAAL | 1 | Arabidopsis thaliana | E457 | RGIDKREITFL | 1 | Caenorhabditis elegans | E457 | AHTVPELIELL | 1 | Mus musculus | H362 | YLAHTHDGARV | 2 | Homo sapiens, Mus musculus | H362 | RMVHTRDGSRL | 1 | Arabidopsis thaliana | H362 | EFIHTPDGAKL | 1 | Caenorhabditis elegans | I458 | HTVREIIEVL- | 1 | Homo sapiens | I458 | YLSHDDLAALD | 1 | Arabidopsis thaliana | I458 | GIDKREITFL- | 1 | Caenorhabditis elegans | I458 | HTVPELIELL- | 1 | Mus musculus | K220 | SRNIVKKFLMY | 2 | Homo sapiens, Mus musculus | K220 | AVHFIQKMLDG | 1 | Arabidopsis thaliana | K220 | SKFFVKKMLKN | 1 | Caenorhabditis elegans | K440 | DKYGRKVLLYL | 2 | Homo sapiens, Mus musculus | K440 | DKNGRRPLLQL | 1 | Arabidopsis thaliana | K440 | DDWGEKVIHYL | 1 | Caenorhabditis elegans | R268 | AILEQRNMLTE | 2 | Homo sapiens, Mus musculus | R268 | GSAAQKQELLA | 1 | Arabidopsis thaliana | R268 | ANAHQRYNIIT | 1 | Caenorhabditis elegans | R366 | THDGARVAMHC | 2 | Homo sapiens, Mus musculus | R366 | TRDGSRLAMLS | 1 | Arabidopsis thaliana | R366 | TPDGAKLAIKL | 1 | Caenorhabditis elegans | V455 | DPAHTVREIIE | 1 | Homo sapiens | V455 | SSRYLSHDDLA | 1 | Arabidopsis thaliana | V455 | DGRGIDKREIT | 1 | Caenorhabditis elegans | V455 | DPAHTVPELIE | 1 | Mus musculus | Y399 | VANGQYSHLVL | 2 | Homo sapiens, Mus musculus | Y399 | MAFDQFGSMVL | 1 | Arabidopsis thaliana | Y399 | AAMEHYGHRVL | 1 | Caenorhabditis elegans |
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