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DNM1L - ENSG00000087470

dynamin 1 like

Also known as: DRP1, DVLP, HDYNIV, DYMPLE, VPS1

Location: chr12:32,832,134-32,898,486

Gene Type: protein coding

More information
NCBI Gene
10059
HUGO
HGNC:2973
Ensembl
ENSG00000087470
VEGA
OTTHUMG00000169451
OMIM
603850
UniProtKB
O00429

Genomic Context

The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.

To add tracks, use the provided link to switch to the full genome browser view.

Gene-based Trait Associations

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ADSP WES: Alzheimer's Disease ADSP

Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.

Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.

See NIAGADS Accession NG00065 for more information.

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Accession Population N SNPs p-value Sign. Level rho CMAF CMAC Covariates Variant Filter Caveats
NG00065 Meta 26 0.062 N/A 1 2.8e-03 60.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 Meta 26 0.080 N/A 1 2.8e-03 60.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 26 0.081 N/A 1 2.8e-03 59.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH N/A
NG00065 European 26 0.106 N/A 1 2.8e-03 59.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH N/A
NG00065 European 1 0.162 N/A 0 4.8e-05 1.0 PCs and sequencing center VEP HIGH
NG00065 European 1 0.162 N/A 0 4.8e-05 1.0 PCs and sequencing center LOF
NG00065 Meta 26 0.209 N/A 1 2.8e-03 60.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 26 0.249 N/A 1 2.8e-03 59.0 PCs and sequencing center VEP MOD-HIGH N/A
NG00065 European 1 0.265 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes LOF
NG00065 European 1 0.265 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP HIGH
NG00065 European 1 0.268 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP HIGH
NG00065 European 1 0.268 N/A 0 4.8e-05 1.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) LOF
NG00065 Caribbean Hispanic 1 0.365 N/A 0 1.3e-03 1.0 PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) VEP MOD-HIGH
NG00065 Caribbean Hispanic 1 0.381 N/A 0 1.3e-03 1.0 PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes VEP MOD-HIGH
NG00065 Caribbean Hispanic 1 0.408 N/A 0 1.3e-03 1.0 PCs and sequencing center VEP MOD-HIGH

Genetic Variation and Variant-based Trait Associations (GWAS)

Variants contained within the DNM1L gene.

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The DNM1L gene contains 4,182 variants records (corresponding to 3,974 unique genomic positions).

The following variants, contained within ±100kb of DNM1L, have been found to be associated with Alzheimer's disease in a GWAS study:

NIAGADS GWAS: Alzheimer's Disease

Variants contained within ±100kb of DNM1L that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Alzheimer's Disease

Variants contained within ±100kb of DNM1L that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.

The following variants, contained within ±100kb of DNM1L, have been associated with AD-relevant neuropathologies in a GWAS study:

NIAGADS GWAS: AD biomarkers and related neuropathologies

Variants contained within ±100kb of DNM1L that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.

Click on accession numbers to view a detailed report about the dataset or to request access to the data.

NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)

Variants contained within ±100kb of DNM1L that are associated with a trait in the NHGRI GWAS Catalog.

Functional Genomics

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Explore all functional genomics annotations within the region of the DNM1L gene (chr12:32832134-32898486)

Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)

ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.

Functional Annotation

Gene Ontology

Functional annotations were obtained from UniProt-GOA gene association files.

Click on a term accession number to view term details at the Gene Ontology Consortium.

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Ontology GO Accession Term Evidence Code
BP GO:0003374 dynamin family protein polymerization involved in mitochondrial fission IDA
BP GO:0006897 endocytosis IEA
BP GO:0007029 endoplasmic reticulum organization IMP
BP GO:0097194 execution phase of apoptosis TAS
BP GO:0060047 heart contraction IEA
BP GO:0048312 intracellular distribution of mitochondria IMP
BP GO:0061025 membrane fusion IDA
BP GO:0000266 mitochondrial fission IMP,IEA,IDA
BP GO:0043653 mitochondrial fragmentation involved in apoptotic process IMP
BP GO:0090149 mitochondrial membrane fission IDA
BP GO:0070584 mitochondrion morphogenesis IMP
BP GO:0007005 mitochondrion organization IMP
BP GO:0070266 necroptotic process IEA,IMP
BP GO:0016559 peroxisome fission IMP,IDA,IEA
BP GO:0043065 positive regulation of apoptotic process IMP
BP GO:0043547 positive regulation of GTPase activity IEA
BP GO:2001244 positive regulation of intrinsic apoptotic signaling pathway IMP
BP GO:0090141 positive regulation of mitochondrial fission IMP,TAS
BP GO:0050714 positive regulation of protein secretion IDA
BP GO:0090200 positive regulation of release of cytochrome c from mitochondria IMP
BP GO:0012501 programmed cell death IEA
BP GO:0051289 protein homotetramerization IDA
BP GO:0070585 protein localization to mitochondrion IEA
BP GO:0051259 protein oligomerization IMP
BP GO:1903578 regulation of ATP metabolic process IEA
BP GO:0010821 regulation of mitochondrion organization IEA,IMP
BP GO:1903146 regulation of mitophagy IGI
BP GO:1900063 regulation of peroxisome organization IMP,IEA
BP GO:0032459 regulation of protein oligomerization IDA
BP GO:0001836 release of cytochrome c from mitochondria IMP
CC GO:0005903 brush border IEA
CC GO:0030054 cell junction IEA
CC GO:0005905 clathrin-coated pit IEA
CC GO:0005737 cytoplasm IDA,IEA
CC GO:0031410 cytoplasmic vesicle IEA
CC GO:0005829 cytosol TAS,IDA,IMP,IEA
CC GO:0012505 endomembrane system IEA
CC GO:0005783 endoplasmic reticulum IEA,IDA
CC GO:0005789 endoplasmic reticulum membrane TAS
CC GO:0005794 Golgi apparatus IEA,IDA
CC GO:0000139 Golgi membrane IEA
CC GO:0043231 intracellular membrane-bounded organelle IDA,IEA
CC GO:0016020 membrane IDA,IEA
CC GO:0005874 microtubule IDA
CC GO:0015630 microtubule cytoskeleton IEA
CC GO:0005741 mitochondrial outer membrane TAS,IEA,IDA
CC GO:0005739 mitochondrion IEA,IDA
CC GO:0099073 mitochondrion-derived vesicle IDA
CC GO:0048471 perinuclear region of cytoplasm IDA,IEA
CC GO:0005777 peroxisome IMP,IDA,IEA
CC GO:0043234 protein complex IDA
CC GO:0099503 secretory vesicle IEA
CC GO:0045202 synapse IEA
CC GO:0030672 synaptic vesicle membrane IEA
MF GO:0005096 GTPase activator activity IC
MF GO:0003924 GTPase activity IDA,IEA
MF GO:0005525 GTP binding IEA
MF GO:0030742 GTP-dependent protein binding IDA
MF GO:0016787 hydrolase activity IEA
MF GO:0042802 identical protein binding IPI
MF GO:0008289 lipid binding IEA
MF GO:0008017 microtubule binding IBA
MF GO:0000166 nucleotide binding IEA
MF GO:0005515 protein binding IPI
MF GO:0042803 protein homodimerization activity IEA,IDA
MF GO:0017137 Rab GTPase binding IDA
MF GO:0031625 ubiquitin protein ligase binding IPI

KEGG Pathways

Click on a pathway accession number to view term details at KEGG.

Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.

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Pathway KEGG Accession Graph
NOD-like receptor signaling pathway hsa04621
TNF signaling pathway hsa04668