mutLBSgeneDB |
Gene summary for PHF6 |
Gene summary |
Basic gene Info. | Gene symbol | PHF6 |
Gene name | PHD finger protein 6 | |
Synonyms | BFLS|BORJ|CENP-31 | |
Cytomap | UCSC genome browser: Xq26.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001015877.1, NM_032335.3,NM_032458.2, | |
Description | PHD-like zinc finger proteincentromere protein 31 | |
Modification date | 20141222 | |
dbXrefs | MIM : 300414 | |
HGNC : HGNC | ||
Ensembl : ENSG00000156531 | ||
HPRD : 02330 | ||
Vega : OTTHUMG00000022453 | ||
Protein | UniProt: Q8IWS0 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHF6 | |
BioGPS: 84295 | ||
Pathway | NCI Pathway Interaction Database: PHF6 | |
KEGG: PHF6 | ||
REACTOME: PHF6 | ||
Pathway Commons: PHF6 | ||
Context | iHOP: PHF6 | |
ligand binding site mutation search in PubMed: PHF6 | ||
UCL Cancer Institute: PHF6 | ||
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 PHF6 |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | H329 | N328Y | BRCA | 1 | C212 | G213V | KIRC | 1 | C292 | C292S | KIRC | 1 | C297 | K299N | 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 PHF6 |
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 |
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 | C292 | C292S | -0.95975518 | C212 | G213V | -0.71611169 | H329 | N328Y | -0.30634356 | C297 | K299N | -0.084330874 |
(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 PHF6 from PDB |
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Differential gene expression and gene-gene network for PHF6 |
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 PHF6 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0265339 | Borjeson-Forssman-Lehmann syndrome | 13 | Biomarker, GeneticVariation |
umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 5 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PHF6 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of PHF6 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4nn2 | A | C212 | ZN | ZINC(2+) | 4nn2 | B | C212 | ZN | ZINC(2+) | 4nn2 | A | C292 C297 H329 | ZN | ZINC(2+) | 4nn2 | B | C292 C297 H329 |
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Conservation information for LBS of PHF6 |
Multiple alignments for Q8IWS0 in multiple species |
LBS | AA sequence | # species | Species | C212 | DTRPKCGFCHV | 3 | Homo sapiens, Bos taurus, Mus musculus | C215 | PKCGFCHVGEE | 3 | Homo sapiens, Bos taurus, Mus musculus | C292 | GATIGCEIKAC | 3 | Homo sapiens, Bos taurus, Mus musculus | C297 | CEIKACVKTYH | 3 | Homo sapiens, Bos taurus, Mus musculus | C326 | IYKLYCKNHSG | 3 | Homo sapiens, Bos taurus, Mus musculus | C45 | AAHHKCMLFSS | 3 | Homo sapiens, Bos taurus, Mus musculus | H239 | KKAAAHYKCML | 3 | Homo sapiens, Bos taurus, Mus musculus | H329 | LYCKNHSGNDE | 3 | Homo sapiens, Bos taurus, Mus musculus |
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