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mutLBSgeneDB |
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| Gene summary for DMRT1 |
 Gene summary |
| Basic gene Info. | Gene symbol | DMRT1 |
| Gene name | doublesex and mab-3 related transcription factor 1 | |
| Synonyms | CT154|DMT1 | |
| Cytomap | UCSC genome browser: 9p24.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021951.2, | |
| Description | DM domain expressed in testis 1DM domain expressed in testis protein 1doublesex- and mab-3-related transcription factor 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602424 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137090 | ||
| HPRD : 03885 | ||
| Vega : OTTHUMG00000019435 | ||
| Protein | UniProt: Q9Y5R6 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DMRT1 | |
| BioGPS: 1761 | ||
| Pathway | NCI Pathway Interaction Database: DMRT1 | |
| KEGG: DMRT1 | ||
| REACTOME: DMRT1 | ||
| Pathway Commons: DMRT1 | ||
| Context | iHOP: DMRT1 | |
| ligand binding site mutation search in PubMed: DMRT1 | ||
| UCL Cancer Institute: DMRT1 | ||
| 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 DMRT1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R72 | R72W | COAD | 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 DMRT1 |
| 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 | R72 | R72W | -0.84318039 |
| (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 DMRT1 from PDB |
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| Differential gene expression and gene-gene network for DMRT1 |
| 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 DMRT1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027658 | Neoplasms, Germ Cell and Embryonal | 1 | Biomarker, GeneticVariation |
| umls:C0039590 | Testicular Neoplasms | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DMRT1 |
| 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 DMRT1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4yj0 | B | R72 | NUC | Nucleic Acids | 4yj0 | B | R72 | NUC | Nucleic Acids | 4yj0 | C | R72 | NUC | Nucleic Acids | 4yj0 | C | R72 |
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| Conservation information for LBS of DMRT1 |
| Multiple alignments for Q9Y5R6 in multiple species |
| LBS | AA sequence | # species | Species | A77 | RLPKCARCRNH | 3 | Homo sapiens, Mus musculus, Bos taurus | A77 | RMPKCSRCRNH | 1 | Danio rerio | C100 | CMWRDCQCKKC | 3 | Homo sapiens, Mus musculus, Bos taurus | C100 | CNWRDCQCQKC | 1 | Danio rerio | C102 | WRDCQCKKCNL | 2 | Homo sapiens, Bos taurus | C102 | WRDCQCQKCRL | 1 | Danio rerio | C102 | WRDCQCKKCSL | 1 | Mus musculus | C105 | CQCKKCNLIAE | 2 | Homo sapiens, Bos taurus | C105 | CQCQKCRLIAE | 1 | Danio rerio | C105 | CQCKKCSLIAE | 1 | Mus musculus | C76 | PRLPKCARCRN | 3 | Homo sapiens, Mus musculus, Bos taurus | C76 | SRMPKCSRCRN | 1 | Danio rerio | C79 | PKCARCRNHGY | 3 | Homo sapiens, Mus musculus, Bos taurus | C79 | PKCSRCRNHGF | 1 | Danio rerio | C95 | GHKRFCMWRDC | 3 | Homo sapiens, Mus musculus, Bos taurus | C95 | GHKRFCNWRDC | 1 | Danio rerio | G90 | ASPLKGHKRFC | 3 | Homo sapiens, Mus musculus, Bos taurus | G90 | VSPLKGHKRFC | 1 | Danio rerio | H82 | ARCRNHGYASP | 3 | Homo sapiens, Mus musculus, Bos taurus | H82 | SRCRNHGFVSP | 1 | Danio rerio | H91 | SPLKGHKRFCM | 3 | Homo sapiens, Mus musculus, Bos taurus | H91 | SPLKGHKRFCN | 1 | Danio rerio | I108 | KKCNLIAERQR | 2 | Homo sapiens, Bos taurus | I108 | QKCRLIAERQR | 1 | Danio rerio | I108 | KKCSLIAERQR | 1 | Mus musculus | K75 | SPRLPKCARCR | 3 | Homo sapiens, Mus musculus, Bos taurus | K75 | PSRMPKCSRCR | 1 | Danio rerio | K89 | YASPLKGHKRF | 3 | Homo sapiens, Mus musculus, Bos taurus | K89 | FVSPLKGHKRF | 1 | Danio rerio | K92 | PLKGHKRFCMW | 3 | Homo sapiens, Mus musculus, Bos taurus | K92 | PLKGHKRFCNW | 1 | Danio rerio | L73 | KKSPRLPKCAR | 3 | Homo sapiens, Mus musculus, Bos taurus | L73 | RKPSRMPKCSR | 1 | Danio rerio | M115 | ERQRVMAAQVA | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus | P74 | KSPRLPKCARC | 3 | Homo sapiens, Mus musculus, Bos taurus | P74 | KPSRMPKCSRC | 1 | Danio rerio | Q112 | LIAERQRVMAA | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus | Q118 | RVMAAQVALRR | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus | R111 | NLIAERQRVMA | 2 | Homo sapiens, Bos taurus | R111 | RLIAERQRVMA | 1 | Danio rerio | R111 | SLIAERQRVMA | 1 | Mus musculus | R122 | AQVALRRQQAQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus | R123 | QVALRRQQAQE | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus | R72 | SKKSPRLPKCA | 2 | Homo sapiens, Mus musculus | R72 | IRKPSRMPKCS | 1 | Danio rerio | R72 | GKKSPRLPKCA | 1 | Bos taurus | R80 | KCARCRNHGYA | 3 | Homo sapiens, Mus musculus, Bos taurus | R80 | KCSRCRNHGFV | 1 | Danio rerio | R93 | LKGHKRFCMWR | 3 | Homo sapiens, Mus musculus, Bos taurus | R93 | LKGHKRFCNWR | 1 | Danio rerio | S70 | -GSKKSPRLPK | 2 | Homo sapiens, Mus musculus | S70 | LSIRKPSRMPK | 1 | Danio rerio | S70 | VSGKKSPRLPK | 1 | Bos taurus | V119 | VMAAQVALRRQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Bos taurus |
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