|
Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for DNM1 |
Gene summary |
Gene information | Gene symbol | DNM1 | Gene ID | 1759 |
Gene name | dynamin 1 | |
Synonyms | DNM|EIEE31 | |
Cytomap | 9q34.11 | |
Type of gene | protein-coding | |
Description | dynamin-1 | |
Modification date | 20200327 | |
UniProtAcc | ||
Context | - 26373435(Radiation-Induced Alteration of the Brain Proteome: Understanding the Role of the Sirtuin 2 Deacetylase in a Murine Model) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for DNM1 |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Differentially expressed gene analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
STG | UP | ENST00000628346.2 | DNM1-213:protein_coding:DNM1 | 4.004685e+01 | 2.769677e+00 | 6.130075e-04 | 3.005826e-02 |
STG | UP | ENST00000486160.3 | DNM1-208:protein_coding:DNM1 | 3.772250e+02 | 4.568947e+00 | 1.437856e-03 | 4.646536e-02 |
PG | DOWN | ENST00000637999.1 | DNM1-227:nonsense_mediated_decay:DNM1 | 3.397313e+01 | -9.670771e-01 | 8.238886e-06 | 4.354785e-04 |
PG | DOWN | ENST00000475805.5 | DNM1-206:protein_coding:DNM1 | 1.493257e+03 | -9.844299e-01 | 5.926056e-05 | 1.866887e-03 |
CB | DOWN | ENST00000341179.11 | DNM1-201:protein_coding:DNM1 | 1.960384e+03 | -1.256139e+00 | 1.291869e-02 | 4.279538e-02 |
Landscape of isoform expressions across multiple brain tissues between AD and control. |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for DNM1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_107211 | chr9 | 128250929:128250940:128253101:128253137:128254006:128254162 | 128253101:128253137 |
exon_skip_108518 | chr9 | 128250802:128250940:128253101:128253137:128254654:128254671 | 128253101:128253137 |
exon_skip_109612 | chr9 | 128222793:128222860:128226035:128226086:128234021:128234107 | 128226035:128226086 |
exon_skip_110768 | chr9 | 128222793:128222860:128224251:128224389:128234021:128234107 | 128224251:128224389 |
exon_skip_113249 | chr9 | 128250802:128250940:128253101:128253137:128254006:128254028 | 128253101:128253137 |
exon_skip_118459 | chr9 | 128226035:128226173:128231986:128232124:128234021:128234024 | 128231986:128232124 |
exon_skip_124441 | chr9 | 128247375:128247486:128247924:128247935:128248583:128248753 | 128247924:128247935 |
exon_skip_128894 | chr9 | 128246476:128246503:128246937:128247123:128247375:128247391 | 128246937:128247123 |
exon_skip_146425 | chr9 | 128226035:128226173:128231986:128232124:128234021:128234107 | 128231986:128232124 |
exon_skip_150945 | chr9 | 128246394:128246503:128246937:128247123:128247375:128247391 | 128246937:128247123 |
exon_skip_160015 | chr9 | 128250929:128250940:128253101:128253137:128254009:128254055 | 128253101:128253137 |
exon_skip_176015 | chr9 | 128219193:128219252:128219988:128220086:128220181:128220341 | 128219988:128220086 |
exon_skip_177937 | chr9 | 128250802:128250940:128253101:128253137:128254006:128254162 | 128253101:128253137 |
exon_skip_178430 | chr9 | 128222197:128222339:128222461:128222596:128222793:128222860 | 128222461:128222596 |
exon_skip_183066 | chr9 | 128239985:128239996:128242232:128242345:128246394:128246471 | 128242232:128242345 |
exon_skip_190540 | chr9 | 128250802:128250940:128253101:128253137:128254009:128254055 | 128253101:128253137 |
exon_skip_210451 | chr9 | 128239728:128239779:128239985:128239996:128242232:128242242 | 128239985:128239996 |
exon_skip_210918 | chr9 | 128246478:128246503:128246937:128247123:128247375:128247391 | 128246937:128247123 |
exon_skip_212130 | chr9 | 128242306:128242345:128246394:128246503:128247375:128247391 | 128246394:128246503 |
exon_skip_213486 | chr9 | 128226146:128226173:128231986:128232124:128234021:128234024 | 128231986:128232124 |
exon_skip_223151 | chr9 | 128222793:128222860:128226035:128226173:128234021:128234107 | 128226035:128226173 |
exon_skip_226615 | chr9 | 128222793:128222860:128226035:128226173:128231986:128232124 | 128226035:128226173 |
exon_skip_236110 | chr9 | 128234021:128234107:128234816:128234935:128239445:128239515 | 128234816:128234935 |
exon_skip_239027 | chr9 | 128239728:128239779:128239985:128239996:128242232:128242345 | 128239985:128239996 |
exon_skip_241304 | chr9 | 128250929:128250940:128253101:128253137:128254654:128254876 | 128253101:128253137 |
exon_skip_244435 | chr9 | 128250802:128250940:128253101:128253137:128254654:128254876 | 128253101:128253137 |
exon_skip_245129 | chr9 | 128220181:128220341:128221110:128221216:128222197:128222339 | 128221110:128221216 |
exon_skip_250115 | chr9 | 128250115:128250356:128250725:128250940:128253101:128253136 | 128250725:128250940 |
exon_skip_253155 | chr9 | 128250900:128250940:128253101:128253137:128254006:128254162 | 128253101:128253137 |
exon_skip_261610 | chr9 | 128222793:128222860:128226035:128226086:128234021:128234024 | 128226035:128226086 |
exon_skip_261922 | chr9 | 128220181:128220341:128221110:128221216:128222197:128222260 | 128221110:128221216 |
exon_skip_262518 | chr9 | 128226138:128226173:128234021:128234107:128239445:128239515 | 128234021:128234107 |
exon_skip_264395 | chr9 | 128234051:128234107:128234816:128234935:128239445:128239515 | 128234816:128234935 |
exon_skip_266515 | chr9 | 128239728:128239779:128239985:128239996:128242232:128242253 | 128239985:128239996 |
exon_skip_272249 | chr9 | 128234027:128234107:128234816:128234935:128239445:128239515 | 128234816:128234935 |
exon_skip_275810 | chr9 | 128219129:128219252:128219988:128220086:128220181:128220341 | 128219988:128220086 |
exon_skip_279049 | chr9 | 128250115:128250356:128250725:128250940:128253101:128253137 | 128250725:128250940 |
exon_skip_280989 | chr9 | 128246479:128246503:128246937:128247123:128247375:128247391 | 128246937:128247123 |
exon_skip_2971 | chr9 | 128219049:128219252:128219988:128220086:128220181:128220341 | 128219988:128220086 |
exon_skip_36856 | chr9 | 128239728:128239779:128239985:128239996:128242232:128242267 | 128239985:128239996 |
exon_skip_39632 | chr9 | 128250926:128250940:128253101:128253137:128254006:128254162 | 128253101:128253137 |
exon_skip_43062 | chr9 | 128250926:128250940:128253101:128253137:128254654:128254876 | 128253101:128253137 |
exon_skip_59694 | chr9 | 128219222:128219252:128219988:128220086:128220181:128220341 | 128219988:128220086 |
exon_skip_61443 | chr9 | 128222793:128222860:128226035:128226173:128234021:128234024 | 128226035:128226173 |
exon_skip_66470 | chr9 | 128250900:128250940:128253101:128253137:128254654:128254876 | 128253101:128253137 |
exon_skip_83893 | chr9 | 128250926:128250940:128253101:128253137:128254009:128254055 | 128253101:128253137 |
exon_skip_87718 | chr9 | 128222793:128222860:128224251:128224389:128234021:128234024 | 128224251:128224389 |
exon_skip_94597 | chr9 | 128219211:128219252:128219988:128220086:128220181:128220341 | 128219988:128220086 |
exon_skip_95198 | chr9 | 128226138:128226173:128231986:128232124:128234021:128234024 | 128231986:128232124 |
Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for DNM1 |
Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000372923 | 128224251 | 128224389 | Frame-shift |
ENST00000372923 | 128246394 | 128246503 | Frame-shift |
ENST00000372923 | 128219988 | 128220086 | In-frame |
ENST00000372923 | 128239985 | 128239996 | In-frame |
ENST00000372923 | 128247924 | 128247935 | In-frame |
Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000372923 | 128224251 | 128224389 | Frame-shift |
ENST00000372923 | 128246394 | 128246503 | Frame-shift |
ENST00000372923 | 128219988 | 128220086 | In-frame |
ENST00000372923 | 128239985 | 128239996 | In-frame |
ENST00000372923 | 128247924 | 128247935 | In-frame |
Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
ENST | Start of skipped exon | End of skipped exon | ORF |
ENST00000372923 | 128222461 | 128222596 | Frame-shift |
ENST00000372923 | 128224251 | 128224389 | Frame-shift |
ENST00000372923 | 128246394 | 128246503 | Frame-shift |
ENST00000372923 | 128219988 | 128220086 | In-frame |
ENST00000372923 | 128239985 | 128239996 | In-frame |
ENST00000372923 | 128242232 | 128242345 | In-frame |
ENST00000372923 | 128247924 | 128247935 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for DNM1 |
p-ENSG00000106976_img4.png |
Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000372923 | 3261 | 864 | 128219988 | 128220086 | 710 | 807 | 197 | 229 |
Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000372923 | 3261 | 864 | 128219988 | 128220086 | 710 | 807 | 197 | 229 |
Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
ENST00000372923 | 3261 | 864 | 128219988 | 128220086 | 710 | 807 | 197 | 229 |
ENST00000372923 | 3261 | 864 | 128242232 | 128242345 | 1678 | 1790 | 519 | 557 |
Lost protein functional features of individual exon skipping events in ROSMAP. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q05193 | 197 | 229 | 198 | 205 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 1 | 864 | Chain | ID=PRO_0000206563;Note=Dynamin-1 |
Q05193 | 197 | 229 | 28 | 294 | Domain | Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Q05193 | 197 | 229 | 207 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 217 | 220 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 206 | 206 | Natural variant | ID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651 |
Q05193 | 197 | 229 | 205 | 208 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q05193 | 197 | 229 | 205 | 208 | Region | Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Lost protein functional features of individual exon skipping events in MSBB. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q05193 | 197 | 229 | 198 | 205 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 1 | 864 | Chain | ID=PRO_0000206563;Note=Dynamin-1 |
Q05193 | 197 | 229 | 28 | 294 | Domain | Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Q05193 | 197 | 229 | 207 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 217 | 220 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 206 | 206 | Natural variant | ID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651 |
Q05193 | 197 | 229 | 205 | 208 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q05193 | 197 | 229 | 205 | 208 | Region | Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Lost protein functional features of individual exon skipping events in Mayo. |
UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
Q05193 | 197 | 229 | 198 | 205 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 1 | 864 | Chain | ID=PRO_0000206563;Note=Dynamin-1 |
Q05193 | 197 | 229 | 28 | 294 | Domain | Note=Dynamin-type G;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Q05193 | 197 | 229 | 207 | 209 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 217 | 220 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5D3Q |
Q05193 | 197 | 229 | 206 | 206 | Natural variant | ID=VAR_073711;Note=In EIEE31. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25262651;Dbxref=dbSNP:rs587777861,PMID:25262651 |
Q05193 | 197 | 229 | 205 | 208 | Nucleotide binding | Note=GTP;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q05193 | 197 | 229 | 205 | 208 | Region | Note=G4 motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01055 |
Q05193 | 519 | 557 | 520 | 529 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN |
Q05193 | 519 | 557 | 537 | 555 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN |
Q05193 | 519 | 557 | 1 | 864 | Chain | ID=PRO_0000206563;Note=Dynamin-1 |
Q05193 | 519 | 557 | 519 | 625 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
Q05193 | 519 | 557 | 533 | 535 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1DYN |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in DNM1 |
3'-UTR exon skipping evnets lost miRNA binding. |
Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for DNM1 |
- Differential PSIs between mutated versus non-mutated samples. |
- Depth of Coverage in the skipped exon of the mutated samples. |
- Sashimi plot in the skipped exon of the mutated samples. |
- Non-synonymous mutations located in the skipped exons. |
Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
- Non-synonymous mutations located in the skipped exons in CCLE. |
Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for DNM1 |
Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
ADstage | MSBB | IFG | exon_skip_2971 | 4.655777e-01 | 1.253327e-02 | chr9 | + | 128219049 | 128219252 | 128219988 | 128220086 | 128220181 | 128220341 |
CDR | MSBB | IFG | exon_skip_2971 | 5.640587e-01 | 1.770415e-03 | chr9 | + | 128219049 | 128219252 | 128219988 | 128220086 | 128220181 | 128220341 |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNM1 |
sQTL information located at the skipped exons. |
Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
Top |
Correlation with RNA binding proteins (RBPs) for DNM1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | RBM3 | exon_skip_183655 | 4.312900e-01 | 1.537636e-08 |
CB | RBM45 | exon_skip_183655 | 4.011678e-01 | 1.754168e-07 |
CB | RBM4 | exon_skip_183655 | -4.261374e-01 | 2.372031e-08 |
DLPFC | HNRNPH2 | exon_skip_241304 | 4.284478e-01 | 2.584938e-12 |
HCC | ILF2 | exon_skip_43062 | 4.366980e-01 | 6.614309e-14 |
HCC | HNRNPH2 | exon_skip_43062 | 4.292060e-01 | 1.944874e-13 |
PCC | RBM3 | exon_skip_184541 | 4.926537e-01 | 2.141928e-12 |
PCC | RBM3 | exon_skip_274390 | 4.901259e-01 | 5.804814e-12 |
PCC | ILF2 | exon_skip_113249 | 4.294130e-01 | 1.072718e-10 |
PCC | SRSF9 | exon_skip_113249 | 4.078408e-01 | 1.063591e-09 |
PCC | ILF2 | exon_skip_241304 | 4.336575e-01 | 3.933767e-11 |
PCC | SRSF9 | exon_skip_241304 | 4.410823e-01 | 1.665467e-11 |
PCC | HNRNPH2 | exon_skip_241304 | 4.148670e-01 | 3.161725e-10 |
PG | ILF2 | exon_skip_244435 | 4.411342e-01 | 1.148187e-08 |
PG | HNRNPH2 | exon_skip_244435 | 4.394317e-01 | 1.326080e-08 |
TC | SRSF2 | exon_skip_269623 | 4.018009e-01 | 9.379888e-06 |
TC | RBM25 | exon_skip_269623 | 4.166210e-01 | 4.013261e-06 |
TC | HNRNPH2 | exon_skip_108518 | 4.468605e-01 | 3.538375e-09 |
Top |
RelatedDrugs for DNM1 |
Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for DNM1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |