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mutLBSgeneDB |
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| Gene summary for MSL3 |
 Gene summary |
| Basic gene Info. | Gene symbol | MSL3 |
| Gene name | male-specific lethal 3 homolog (Drosophila) | |
| Synonyms | MSL3L1 | |
| Cytomap | UCSC genome browser: Xp22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001193270.2, NM_001282174.1,NM_006800.3,NM_078628.1,NM_078629.3, NM_078630.1, | |
| Description | MSL3-like 1male-specific lethal 3 homologmale-specific lethal-3 protein-like 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300609 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000005302 | ||
| HPRD : 05344 | ||
| Vega : OTTHUMG00000021132 | ||
| Protein | UniProt: Q8N5Y2 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MSL3 | |
| BioGPS: 10943 | ||
| Pathway | NCI Pathway Interaction Database: MSL3 | |
| KEGG: MSL3 | ||
| REACTOME: MSL3 | ||
| Pathway Commons: MSL3 | ||
| Context | iHOP: MSL3 | |
| ligand binding site mutation search in PubMed: MSL3 | ||
| UCL Cancer Institute: MSL3 | ||
| 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:0043984 | histone H4-K16 acetylation | 20018852 |
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| Ligand binding site mutations for MSL3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N476 | K475N | COAD | 1 | L253 | L253I | COAD | 1 | L253 | L253R | COAD | 1 | R458 | R458Q | LUAD | 1 | L253 | L253F | OV | 1 | N250 | K249N | 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 MSL3 |
| 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 | R458 | R458Q | -1.51101 | L253 | L253F | -1.4892728 | L253 | L253R | -1.4390571 | L253 | L253I | -1.3239576 | N250 | K249N | -1.145945 | N476 | K475N | -0.83782938 |
| (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 MSL3 from PDB |
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| Differential gene expression and gene-gene network for MSL3 |
| 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 MSL3 |
| 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 MSL3 |
| 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 MSL3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (VAL,THR,SER,PHE,PHE,PRO) | 2y0n | A | N250 L253 N476 | III | Peptide ligand (VAL,THR,SER,PHE,PHE,PRO) | 2y0n | B | N250 L253 N476 | III | Peptide ligand (ILE,THR,PRO,PHE,LEU,PRO,VAL,VAL,ALA,PHE,GLY,ARG,PRO,LEU,PRO,LYS,LEU,ALA,PRO,GLN,ASN,PHE,GLU) | 2y0n | C | R458 | III | Peptide ligand (ILE,THR,PRO,PHE,LEU,PRO,VAL,VAL,ALA,PHE,GLY,ARG,PRO,LEU,PRO,LYS,LEU,ALA,PRO,GLN,ASN,PHE,GLU) | 2y0n | D | R458 |
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| Conservation information for LBS of MSL3 |
| Multiple alignments for Q8N5Y2 in multiple species |
| LBS | AA sequence | # species | Species | A27 | PDPTKARVLYD | 2 | Homo sapiens, Mus musculus | A27 | PDKSKARVLYT | 1 | Drosophila melanogaster | A479 | EKNLKALLKHF | 2 | Homo sapiens, Mus musculus | A479 | NKKLEDLLPHL | 1 | Drosophila melanogaster | D23 | LCFEPDPTKAR | 2 | Homo sapiens, Mus musculus | D23 | LCYEPDKSKAR | 1 | Drosophila melanogaster | D64 | WNRSWDRWAAE | 2 | Homo sapiens, Mus musculus | D64 | WRPSYDRCVRA | 1 | Drosophila melanogaster | E256 | VDLCKEMVDGL | 2 | Homo sapiens, Mus musculus | E256 | VCMLKEVVDGL | 1 | Drosophila melanogaster | F472 | LGKMSFSEKNL | 2 | Homo sapiens, Mus musculus | F472 | LNASPISNKKL | 1 | Drosophila melanogaster | F56 | EYLIHFNGWNR | 2 | Homo sapiens, Mus musculus | F56 | EYKIHFQGWRP | 1 | Drosophila melanogaster | G260 | KEMVDGLRITF | 2 | Homo sapiens, Mus musculus | G260 | KEVVDGLRIYF | 1 | Drosophila melanogaster | G58 | LIHFNGWNRSW | 2 | Homo sapiens, Mus musculus | G58 | KIHFQGWRPSY | 1 | Drosophila melanogaster | H55 | PEYLIHFNGWN | 2 | Homo sapiens, Mus musculus | H55 | YEYKIHFQGWR | 1 | Drosophila melanogaster | I263 | VDGLRITFDYT | 2 | Homo sapiens, Mus musculus | I263 | VDGLRIYFEFH | 1 | Drosophila melanogaster | K26 | EPDPTKARVLY | 2 | Homo sapiens, Mus musculus | K26 | EPDKSKARVLY | 1 | Drosophila melanogaster | K462 | LRLFVKLPEIL | 2 | Homo sapiens, Mus musculus | K462 | VRLMIKMPMFL | 1 | Drosophila melanogaster | K469 | PEILGKMSFSE | 2 | Homo sapiens, Mus musculus | K469 | PMFLNASPISN | 1 | Drosophila melanogaster | L253 | EKNVDLCKEMV | 2 | Homo sapiens, Mus musculus | L253 | MSTVCMLKEVV | 1 | Drosophila melanogaster | L261 | EMVDGLRITFD | 2 | Homo sapiens, Mus musculus | L261 | EVVDGLRIYFE | 1 | Drosophila melanogaster | L271 | DYTLPLVLLYP | 2 | Homo sapiens, Mus musculus | L271 | EFHVDDHLLYT | 1 | Drosophila melanogaster | L273 | TLPLVLLYPYE | 2 | Homo sapiens, Mus musculus | L273 | HVDDHLLYTEE | 1 | Drosophila melanogaster | L274 | LPLVLLYPYEQ | 2 | Homo sapiens, Mus musculus | L274 | VDDHLLYTEEK | 1 | Drosophila melanogaster | L480 | KNLKALLKHFD | 2 | Homo sapiens, Mus musculus | L480 | KKLEDLLPHLD | 1 | Drosophila melanogaster | M257 | DLCKEMVDGLR | 2 | Homo sapiens, Mus musculus | M257 | CMLKEVVDGLR | 1 | Drosophila melanogaster | M470 | EILGKMSFSEK | 2 | Homo sapiens, Mus musculus | M470 | MFLNASPISNK | 1 | Drosophila melanogaster | N250 | IPAEKNVDLCK | 1 | Homo sapiens | N250 | DRVMSTVCMLK | 1 | Drosophila melanogaster | N250 | VPAEKNVDLCK | 1 | Mus musculus | N476 | SFSEKNLKALL | 2 | Homo sapiens, Mus musculus | N476 | PISNKKLEDLL | 1 | Drosophila melanogaster | N57 | YLIHFNGWNRS | 2 | Homo sapiens, Mus musculus | N57 | YKIHFQGWRPS | 1 | Drosophila melanogaster | N60 | HFNGWNRSWDR | 2 | Homo sapiens, Mus musculus | N60 | HFQGWRPSYDR | 1 | Drosophila melanogaster | P276 | LVLLYPYEQAQ | 1 | Homo sapiens | P276 | DHLLYTEEKEY | 1 | Drosophila melanogaster | P276 | LVLLYPYEQTQ | 1 | Mus musculus | R458 | AQHLLRLFVKL | 2 | Homo sapiens, Mus musculus | R458 | APHLVRLMIKM | 1 | Drosophila melanogaster | R65 | NRSWDRWAAED | 1 | Homo sapiens | R65 | RPSYDRCVRAT | 1 | Drosophila melanogaster | R65 | NRSWDRWAAEE | 1 | Mus musculus | S471 | ILGKMSFSEKN | 2 | Homo sapiens, Mus musculus | S471 | FLNASPISNKK | 1 | Drosophila melanogaster | S62 | NGWNRSWDRWA | 2 | Homo sapiens, Mus musculus | S62 | QGWRPSYDRCV | 1 | Drosophila melanogaster | T264 | DGLRITFDYTL | 2 | Homo sapiens, Mus musculus | T264 | DGLRIYFEFHV | 1 | Drosophila melanogaster | V272 | YTLPLVLLYPY | 2 | Homo sapiens, Mus musculus | V272 | FHVDDHLLYTE | 1 | Drosophila melanogaster | V461 | LLRLFVKLPEI | 2 | Homo sapiens, Mus musculus | V461 | LVRLMIKMPMF | 1 | Drosophila melanogaster | W63 | GWNRSWDRWAA | 2 | Homo sapiens, Mus musculus | W63 | GWRPSYDRCVR | 1 | Drosophila melanogaster | W66 | RSWDRWAAEDH | 1 | Homo sapiens | W66 | PSYDRCVRATV | 1 | Drosophila melanogaster | W66 | RSWDRWAAEEH | 1 | Mus musculus | Y267 | RITFDYTLPLV | 2 | Homo sapiens, Mus musculus | Y267 | RIYFEFHVDDH | 1 | Drosophila melanogaster | Y275 | PLVLLYPYEQA | 1 | Homo sapiens | Y275 | DDHLLYTEEKE | 1 | Drosophila melanogaster | Y275 | PLVLLYPYEQT | 1 | Mus musculus | Y31 | KARVLYDAKIV | 1 | Homo sapiens | Y31 | KARVLYTSKVL | 1 | Drosophila melanogaster | Y31 | KARVLYDAKII | 1 | Mus musculus |
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