|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for ZNF346 |
 Gene summary |
| Basic gene Info. | Gene symbol | ZNF346 |
| Gene name | zinc finger protein 346 | |
| Synonyms | JAZ|Zfp346 | |
| Cytomap | UCSC genome browser: 5q35.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_012279.2, | |
| Description | double-stranded RNA-binding zinc finger protein JAZjust another zinc finger protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605308 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000113761 | ||
| HPRD : 05606 | ||
| Vega : OTTHUMG00000130848 | ||
| Protein | UniProt: Q9UL40 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ZNF346 | |
| BioGPS: 23567 | ||
| Pathway | NCI Pathway Interaction Database: ZNF346 | |
| KEGG: ZNF346 | ||
| REACTOME: ZNF346 | ||
| Pathway Commons: ZNF346 | ||
| Context | iHOP: ZNF346 | |
| ligand binding site mutation search in PubMed: ZNF346 | ||
| UCL Cancer Institute: ZNF346 | ||
| 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 |
| Top |
| Ligand binding site mutations for ZNF346 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C187 | F186L | COAD | 1 | C187 | F186L | HNSC | 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. |
| Top |
| Protein structure related information for ZNF346 |
| 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 | C187 | F186L | -0.51300051 |
| (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 ZNF346 from PDB |
| Top |
| Differential gene expression and gene-gene network for ZNF346 |
| 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) |
| Top |
| Top |
| Phenotype information for ZNF346 |
| 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 |
| Top |
| Pharmacological information for ZNF346 |
| 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 ZNF346 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2mkd | A | C187 | ZN | ZINC(2+) | 2mkn | A | C187 |
| Top |
| Conservation information for LBS of ZNF346 |
| Multiple alignments for Q9UL40 in multiple species |
| LBS | AA sequence | # species | Species | C187 | DPDKFCSLCHA | 1 | Homo sapiens | C187 | DPNRFCSICQA | 1 | Danio rerio | C187 | DPTKFCKLCHA | 1 | Xenopus tropicalis | C187 | DPDKFCSLCHS | 1 | Mus musculus | C190 | KFCSLCHATFN | 1 | Homo sapiens | C190 | RFCSICQASFN | 1 | Danio rerio | C190 | KFCKLCHATFN | 1 | Xenopus tropicalis | C190 | KFCSLCHSTFN | 1 | Mus musculus | D196 | HATFNDPVMAQ | 1 | Homo sapiens | D196 | QASFNNPLMAQ | 1 | Danio rerio | D196 | HATFNNPLMAE | 1 | Xenopus tropicalis | D196 | HSTFNDPAMAQ | 1 | Mus musculus | G206 | QQHYVGKKHRK | 1 | Homo sapiens | G206 | QQHYSGKKHKK | 1 | Danio rerio | G206 | EQHYAGKKHKK | 1 | Xenopus tropicalis | G206 | QQHYMGKRHRK | 1 | Mus musculus | H203 | VMAQQHYVGKK | 1 | Homo sapiens | H203 | LMAQQHYSGKK | 1 | Danio rerio | H203 | LMAEQHYAGKK | 1 | Xenopus tropicalis | H203 | AMAQQHYMGKR | 1 | Mus musculus | H209 | YVGKKHRKQET | 1 | Homo sapiens | H209 | YSGKKHKKHMN | 1 | Danio rerio | H209 | YAGKKHKKQET | 1 | Xenopus tropicalis | H209 | YMGKRHRKQET | 1 | Mus musculus | K207 | QHYVGKKHRKQ | 1 | Homo sapiens | K207 | QHYSGKKHKKH | 1 | Danio rerio | K207 | QHYAGKKHKKQ | 1 | Xenopus tropicalis | K207 | QHYMGKRHRKQ | 1 | Mus musculus | K208 | HYVGKKHRKQE | 1 | Homo sapiens | K208 | HYSGKKHKKHM | 1 | Danio rerio | K208 | HYAGKKHKKQE | 1 | Xenopus tropicalis | K208 | HYMGKRHRKQE | 1 | Mus musculus | K211 | GKKHRKQETKL | 1 | Homo sapiens | K211 | GKKHKKHMNKQ | 1 | Danio rerio | K211 | GKKHKKQETKT | 1 | Xenopus tropicalis | K211 | GKRHRKQETKL | 1 | Mus musculus | K215 | RKQETKLKLMA | 2 | Homo sapiens, Mus musculus | K215 | KKHMNKQKLME | 1 | Danio rerio | K215 | KKQETKTQLMT | 1 | Xenopus tropicalis | M199 | FNDPVMAQQHY | 1 | Homo sapiens | M199 | FNNPLMAQQHY | 1 | Danio rerio | M199 | FNNPLMAEQHY | 1 | Xenopus tropicalis | M199 | FNDPAMAQQHY | 1 | Mus musculus | P197 | ATFNDPVMAQQ | 1 | Homo sapiens | P197 | ASFNNPLMAQQ | 1 | Danio rerio | P197 | ATFNNPLMAEQ | 1 | Xenopus tropicalis | P197 | STFNDPAMAQQ | 1 | Mus musculus | Q202 | PVMAQQHYVGK | 1 | Homo sapiens | Q202 | PLMAQQHYSGK | 1 | Danio rerio | Q202 | PLMAEQHYAGK | 1 | Xenopus tropicalis | Q202 | PAMAQQHYMGK | 1 | Mus musculus | Q212 | KKHRKQETKLK | 1 | Homo sapiens | Q212 | KKHKKHMNKQK | 1 | Danio rerio | Q212 | KKHKKQETKTQ | 1 | Xenopus tropicalis | Q212 | KRHRKQETKLK | 1 | Mus musculus | V198 | TFNDPVMAQQH | 1 | Homo sapiens | V198 | SFNNPLMAQQH | 1 | Danio rerio | V198 | TFNNPLMAEQH | 1 | Xenopus tropicalis | V198 | TFNDPAMAQQH | 1 | Mus musculus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |