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mutLBSgeneDB |
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| Gene summary for WHSC1L1 |
 Gene summary |
| Basic gene Info. | Gene symbol | WHSC1L1 |
| Gene name | Wolf-Hirschhorn syndrome candidate 1-like 1 | |
| Synonyms | NSD3|pp14328 | |
| Cytomap | UCSC genome browser: 8p11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_017778.2, NM_023034.1, | |
| Description | WHSC1-like 1 isoform 9 with methyltransferase activity to lysineWHSC1-like protein 1histone-lysine N-methyltransferase NSD3nuclear SET domain-containing protein 3protein whistle | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 607083 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147548 | ||
| HPRD : 06155 | ||
| Vega : OTTHUMG00000165115 | ||
| Protein | UniProt: Q9BZ95 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_WHSC1L1 | |
| BioGPS: 54904 | ||
| Pathway | NCI Pathway Interaction Database: WHSC1L1 | |
| KEGG: WHSC1L1 | ||
| REACTOME: WHSC1L1 | ||
| Pathway Commons: WHSC1L1 | ||
| Context | iHOP: WHSC1L1 | |
| ligand binding site mutation search in PubMed: WHSC1L1 | ||
| UCL Cancer Institute: WHSC1L1 | ||
| 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:0016571 | histone methylation | 16682010 | GO:0034968 | histone lysine methylation | 16682010 |
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| Ligand binding site mutations for WHSC1L1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R1155 | R1154Q | BRCA | 1 | F1221,N1223 | M1222V | COAD | 1 | G1358,P1356 | Y1357H | SKCM | 1 | C1108 | P1107S | SKCM | 1 | C1114 | E1113G | STAD | 1 | E1272 | E1272Q | STAD | 1 | M1335 | M1335L | STAD | 1 | R1155 | R1154Q | UCEC | 1 | R1155 | R1154W | 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 WHSC1L1 |
| 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 |
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| 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 | R1155 | R1154Q | -1.7509876 | R1155 | R1154W | -1.4516659 | G1358 | Y1357H | -1.3997567 | P1356 | Y1357H | -1.3997567 | C1108 | P1107S | -1.0031142 | F1221 | M1222V | -0.99605227 | N1223 | M1222V | -0.99605227 | C1114 | E1113G | -0.86199433 | E1272 | E1272Q | -0.83616924 | M1335 | M1335L | -0.5801873 |
| (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 WHSC1L1 from PDB |
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| Differential gene expression and gene-gene network for WHSC1L1 |
| 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 WHSC1L1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0023467 | Leukemia, Myeloid, Acute | 3 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for WHSC1L1 |
| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of WHSC1L1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 4yz8 | A | C1108 | ZN | ZINC(2+) | 4yz8 | A | C1108 C1114 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR) | 4gne | A | M1335 P1356 G1358 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS) | 4gnf | A | M1335 P1356 G1358 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER) | 4gng | A | M1335 P1356 G1358 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA,ARG,LYS,SER) | 4gng | D | M1335 P1356 G1358 | SAM | S-ADENOSYL-L-METHIONINE | 4yz8 | A | R1155 F1221 N1223 E1272 |
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| Conservation information for LBS of WHSC1L1 |
| Multiple alignments for Q9BZ95 in multiple species |
| LBS | AA sequence | # species | Species |
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