mutLBSgeneDB |
Gene summary for ZNF512 |
Gene summary |
Basic gene Info. | Gene symbol | ZNF512 |
Gene name | zinc finger protein 512 | |
Synonyms | - | |
Cytomap | UCSC genome browser: 2p23 | |
Type of gene | protein-coding | |
RefGenes | NM_001271286.1, NM_001271287.1,NM_001271288.1,NM_001271289.1,NM_001271318.1, NM_032434.3, | |
Description | - | |
Modification date | 20141207 | |
dbXrefs | HGNC : HGNC | |
Ensembl : ENSG00000243943 | ||
HPRD : 10336 | ||
Vega : OTTHUMG00000097786 | ||
Protein | UniProt: Q96ME7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ZNF512 | |
BioGPS: 84450 | ||
Pathway | NCI Pathway Interaction Database: ZNF512 | |
KEGG: ZNF512 | ||
REACTOME: ZNF512 | ||
Pathway Commons: ZNF512 | ||
Context | iHOP: ZNF512 | |
ligand binding site mutation search in PubMed: ZNF512 | ||
UCL Cancer Institute: ZNF512 | ||
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 ZNF512 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | C202 | G203W | LUAD | 1 | H220 | H220N | UCEC | 1 | C174 | Q175H | UCEC | 1 | H188 | K186N | 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 ZNF512 |
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 | C174 | Q175H | -0.78149382 | H188 | K186N | -0.63025936 | C202 | G203W | -0.51712971 | H220 | H220N | -0.10418398 |
(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 ZNF512 from PDB |
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Differential gene expression and gene-gene network for ZNF512 |
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 ZNF512 |
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 ZNF512 |
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 ZNF512 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 ZNF512 |
Multiple alignments for Q96ME7 in multiple species |
LBS | AA sequence | # species | Species | C171 | KGSVSCPTCQA | 3 | Homo sapiens, Mus musculus, Bos taurus | C174 | VSCPTCQAVGR | 3 | Homo sapiens, Mus musculus, Bos taurus | C192 | KHMENCKQEMF | 3 | Homo sapiens, Mus musculus, Bos taurus | C199 | QEMFTCHHCGK | 3 | Homo sapiens, Mus musculus, Bos taurus | C202 | FTCHHCGKQLR | 2 | Homo sapiens, Bos taurus | C202 | FTCHHCGKQLH | 1 | Mus musculus | H188 | EGLKKHMENCK | 3 | Homo sapiens, Mus musculus, Bos taurus | H215 | AGMKYHVMANH | 3 | Homo sapiens, Mus musculus, Bos taurus | H220 | HVMANHNSLPI | 3 | Homo sapiens, Mus musculus, Bos taurus |
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