mutLBSgeneDB |
Gene summary for PHIP |
Gene summary |
Basic gene Info. | Gene symbol | PHIP |
Gene name | pleckstrin homology domain interacting protein | |
Synonyms | BRWD2|DCAF14|WDR11|ndrp | |
Cytomap | UCSC genome browser: 6q14 | |
Type of gene | protein-coding | |
RefGenes | NM_017934.5, | |
Description | DDB1 and CUL4 associated factor 14IRS-1 PH domain-binding proteinPH-interacting proteinWD repeat-containing protein 11 | |
Modification date | 20141207 | |
dbXrefs | MIM : 612870 | |
HGNC : HGNC | ||
Ensembl : ENSG00000146247 | ||
HPRD : 10152 | ||
Vega : OTTHUMG00000015071 | ||
Protein | UniProt: Q8WWQ0 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHIP | |
BioGPS: 55023 | ||
Pathway | NCI Pathway Interaction Database: PHIP | |
KEGG: PHIP | ||
REACTOME: PHIP | ||
Pathway Commons: PHIP | ||
Context | iHOP: PHIP | |
ligand binding site mutation search in PubMed: PHIP | ||
UCL Cancer Institute: PHIP | ||
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:0045944 | positive regulation of transcription from RNA polymerase II promoter | 17636024 | GO:2001237 | negative regulation of extrinsic apoptotic signaling pathway | 17636024 |
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Ligand binding site mutations for PHIP |
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 | P1340 | P1340S | 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 PHIP |
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 | P1340 | P1340S | -1.2147849 |
(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 PHIP from PDB |
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Differential gene expression and gene-gene network for PHIP |
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 PHIP |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C1527336 | Sjogren's Syndrome | 1 | Biomarker |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for PHIP |
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. |
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 PHIP go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MB3 | N-METHYLPYRROLIDIN-2-ONE | 3mb3 | A | P1340 |
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Conservation information for LBS of PHIP |
Multiple alignments for Q8WWQ0 in multiple species |
LBS | AA sequence | # species | Species |
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