mutLBSgeneDB |
Gene summary for PHF19 |
Gene summary |
Basic gene Info. | Gene symbol | PHF19 |
Gene name | PHD finger protein 19 | |
Synonyms | MTF2L1|PCL3|TDRD19B | |
Cytomap | UCSC genome browser: 9q33.2 | |
Type of gene | protein-coding | |
RefGenes | NM_001009936.2, NM_001286840.1,NM_001286842.1,NM_001286843.1,NM_015651.2, NR_104601.1, | |
Description | polycomb like 3polycomb-like protein 3tudor domain containing 19B | |
Modification date | 20141207 | |
dbXrefs | MIM : 609740 | |
HGNC : HGNC | ||
Ensembl : ENSG00000119403 | ||
HPRD : 17846 | ||
Vega : OTTHUMG00000020577 | ||
Protein | UniProt: Q5T6S3 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_PHF19 | |
BioGPS: 26147 | ||
Pathway | NCI Pathway Interaction Database: PHF19 | |
KEGG: PHF19 | ||
REACTOME: PHF19 | ||
Pathway Commons: PHF19 | ||
Context | iHOP: PHF19 | |
ligand binding site mutation search in PubMed: PHF19 | ||
UCL Cancer Institute: PHF19 | ||
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 PHF19 |
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 | G94 | E96K | OV | 1 | L47 | V46A | STAD | 1 | E75 | E75K | 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 PHF19 |
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 | E75 | E75K | -1.5736775 | L47 | V46A | -1.3407652 | G94 | E96K | -1.0485285 |
(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 PHF19 from PDB |
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Differential gene expression and gene-gene network for PHF19 |
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 PHF19 |
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 PHF19 |
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 PHF19 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,THR,GLY,GLY,VAL,LYS,LYS,PRO,HIS,ARG,TYR) | 4bd3 | A | L47 E75 G94 |
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Conservation information for LBS of PHF19 |
Multiple alignments for Q5T6S3 in multiple species |
LBS | AA sequence | # species | Species | D52 | LCRWTDGLYYL | 2 | Homo sapiens, Mus musculus | D52 | KC--NDGRFYL | 1 | Drosophila melanogaster | D76 | LVTFEDNSKYW | 2 | Homo sapiens, Mus musculus | D76 | LIRFDDQSEQW | 1 | Drosophila melanogaster | E75 | CLVTFEDNSKY | 2 | Homo sapiens, Mus musculus | E75 | YLIRFDDQSEQ | 1 | Drosophila melanogaster | F74 | SCLVTFEDNSK | 2 | Homo sapiens, Mus musculus | F74 | QYLIRFDDQSE | 1 | Drosophila melanogaster | G53 | CRWTDGLYYLG | 2 | Homo sapiens, Mus musculus | G53 | C--NDGRFYLG | 1 | Drosophila melanogaster | G94 | ---VPGEEPKC | 2 | Homo sapiens, Mus musculus | G94 | TTESTNTSPSG | 1 | Drosophila melanogaster | H89 | WKDIQHAG--- | 2 | Homo sapiens, Mus musculus | H89 | PDKLRKLGGGS | 1 | Drosophila melanogaster | L47 | EGQYVLCRWTD | 1 | Homo sapiens | L47 | EDVFIKC--ND | 1 | Drosophila melanogaster | L47 | EGQFVLCRWTD | 1 | Mus musculus | L54 | RWTDGLYYLGK | 2 | Homo sapiens, Mus musculus | L54 | --NDGRFYLGT | 1 | Drosophila melanogaster | Q88 | LWKDIQHAG-- | 2 | Homo sapiens, Mus musculus | Q88 | EPDKLRKLGGG | 1 | Drosophila melanogaster | R49 | QYVLCRWTDGL | 1 | Homo sapiens | R49 | VFIKC--NDGR | 1 | Drosophila melanogaster | R49 | QFVLCRWTDGL | 1 | Mus musculus | S78 | TFEDNSKYWVL | 2 | Homo sapiens, Mus musculus | S78 | RFDDQSEQWCE | 1 | Drosophila melanogaster | V92 | -----VPGEEP | 2 | Homo sapiens, Mus musculus | V92 | ASTTESTNTSP | 1 | Drosophila melanogaster | W50 | YVLCRWTDGLY | 1 | Homo sapiens | W50 | FIKC--NDGRF | 1 | Drosophila melanogaster | W50 | FVLCRWTDGLY | 1 | Mus musculus | Y55 | WTDGLYYLGKI | 2 | Homo sapiens, Mus musculus | Y55 | -NDGRFYLGTI | 1 | Drosophila melanogaster | Y56 | TDGLYYLGKIK | 2 | Homo sapiens, Mus musculus | Y56 | NDGRFYLGTI- | 1 | Drosophila melanogaster | Y80 | EDNSKYWVLWK | 2 | Homo sapiens, Mus musculus | Y80 | DDQSEQWCEPD | 1 | Drosophila melanogaster |
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