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mutLBSgeneDB |
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| Gene summary for DNM1L |
 Gene summary |
| Basic gene Info. | Gene symbol | DNM1L |
| Gene name | dynamin 1-like | |
| Synonyms | DLP1|DRP1|DVLP|DYMPLE|EMPF|HDYNIV | |
| Cytomap | UCSC genome browser: 12p11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001278463.1, NM_001278464.1,NM_001278465.1,NM_001278466.1,NM_005690.4, NM_012062.4,NM_012063.3, | |
| Description | Dnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-1-like proteindynamin-like protein 4dynamin-like protein IVdynamin-related protein 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 603850 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000087470 | ||
| HPRD : 04833 | ||
| Vega : OTTHUMG00000169451 | ||
| Protein | UniProt: O00429 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DNM1L | |
| BioGPS: 10059 | ||
| Pathway | NCI Pathway Interaction Database: DNM1L | |
| KEGG: DNM1L | ||
| REACTOME: DNM1L | ||
| Pathway Commons: DNM1L | ||
| Context | iHOP: DNM1L | |
| ligand binding site mutation search in PubMed: DNM1L | ||
| UCL Cancer Institute: DNM1L | ||
| 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:0000266 | mitochondrial fission | 23530241 | GO:0003374 | dynamin polymerization involved in mitochondrial fission | 11514614 | GO:0006184 | GTP catabolic process | 23530241 | GO:0016559 | peroxisome fission | 12618434 | GO:0032459 | regulation of protein oligomerization | 20850011 | GO:0050714 | positive regulation of protein secretion | 9570752 | GO:0051289 | protein homotetramerization | 18353969 | GO:0061025 | membrane fusion | 20850011 | GO:0090149 | membrane fission involved in mitochondrial fission | 11514614 |
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| Ligand binding site mutations for DNM1L |
| 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 | L219 | M220V | PRAD | 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 DNM1L |
| 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 | L219 | M220V | -1.2940053 |
| (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 DNM1L from PDB |
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| Differential gene expression and gene-gene network for DNM1L |
| 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 DNM1L |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3280660 | ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION | 1 | GeneticVariation |
| umls:C0001125 | Acidosis, Lactic | 1 | Biomarker |
| umls:C0025958 | Microcephaly | 1 | Biomarker |
| umls:C0162666 | Mitochondrial Encephalomyopathies | 1 | Biomarker |
| umls:C0151744 | Myocardial Ischemia | 1 | Biomarker |
| umls:C0029124 | Optic Atrophy | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DNM1L |
| 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 DNM1L go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 4h1v | A | L219 | GNH | AMINOPHOSPHONIC ACID-GUANYLATE ESTER | 3w6n | A | L219 | GNH | AMINOPHOSPHONIC ACID-GUANYLATE ESTER | 3w6n | B | L219 | GDP | GUANOSINE-5'-DIPHOSPHATE | 3w6p | A | L219 | GDP | GUANOSINE-5'-DIPHOSPHATE | 3w6p | B | L219 |
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| Conservation information for LBS of DNM1L |
| Multiple alignments for O00429 in multiple species |
| LBS | AA sequence | # species | Species | D218 | VITKLDLMDAG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | D218 | VVTKLDLMDAG | 1 | Danio rerio | D218 | VITKLDLMDSG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D218 | VLTKLDLMDQG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G149 | LVDLPGMTKVP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G149 | LVDLPGITKVP | 2 | Danio rerio, Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G149 | LIDLPGLTKIP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G37 | GTQSSGKSSVL | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | G37 | GSQSSGKSSIL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G37 | GSQSCGKSSVL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G54 | DLLPRGTGIVT | 3 | Homo sapiens, Danio rerio, Bos taurus | G54 | DLLPRGTGVVT | 2 | Mus musculus, Rattus norvegicus | G54 | DFLPRGTGIVT | 2 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G56 | LPRGTGIVTRR | 5 | Homo sapiens, Danio rerio, Bos taurus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G56 | LPRGTGVVTRR | 2 | Mus musculus, Rattus norvegicus | I252 | RSQLDINNKKS | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | I252 | RSQQDIQLNKT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I252 | RSQSDIVSHKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K216 | LAVITKLDLMD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K216 | LAVVTKLDLMD | 1 | Danio rerio | K216 | IGVITKLDLMD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K216 | IGVLTKLDLMD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K38 | TQSSGKSSVLE | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | K38 | SQSSGKSSILE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K38 | SQSCGKSSVLE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L219 | ITKLDLMDAGT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L219 | VTKLDLMDAGT | 1 | Danio rerio | L219 | ITKLDLMDSGT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L219 | LTKLDLMDQGT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N246 | IIGVVNRSQLD | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N246 | LIGVVNRSQLD | 1 | Danio rerio | N246 | FVGVVNRSQQD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N246 | FVATVNRSQSD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q249 | VVNRSQLDINN | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | Q249 | VVNRSQQDIQL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q249 | TVNRSQSDIVS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q34 | VVVGTQSSGKS | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q34 | AVVGTQSSGKS | 1 | Danio rerio | Q34 | AVVGSQSSGKS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q34 | VVVGSQSCGKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R247 | IGVVNRSQLDI | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | R247 | VGVVNRSQQDI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R247 | VATVNRSQSDI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R53 | RDLLPRGTGIV | 3 | Homo sapiens, Danio rerio, Bos taurus | R53 | RDLLPRGTGVV | 2 | Mus musculus, Rattus norvegicus | R53 | RDFLPRGTGIV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R53 | KDFLPRGTGIV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S248 | GVVNRSQLDIN | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S248 | GVVNRSQQDIQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S248 | ATVNRSQSDIV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S35 | VVGTQSSGKSS | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S35 | VVGSQSSGKSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S35 | VVGSQSCGKSS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S36 | VGTQSSGKSSV | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S36 | VGSQSSGKSSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S36 | VGSQSCGKSSV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S39 | QSSGKSSVLES | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S39 | QSSGKSSILET | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S39 | QSCGKSSVLEN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S40 | SSGKSSVLESL | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | S40 | SSGKSSILETL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S40 | SCGKSSVLENI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T59 | GTGIVTRRPLI | 4 | Homo sapiens, Danio rerio, Bos taurus, Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T59 | GTGVVTRRPLI | 2 | Mus musculus, Rattus norvegicus | T59 | GTGIVTRRPLV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V245 | GIIGVVNRSQL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V245 | GLIGVVNRSQL | 1 | Danio rerio | V245 | GFVGVVNRSQQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V245 | GFVATVNRSQS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V58 | RGTGIVTRRPL | 5 | Homo sapiens, Danio rerio, Bos taurus, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V58 | RGTGVVTRRPL | 2 | Mus musculus, Rattus norvegicus |
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