ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DNM1L

Gene summary

Gene information	Gene symbol	DNM1L
	Gene ID	10059
	Gene name	dynamin 1 like
	Synonyms	DLP1\|DRP1\|DVLP\|DYMPLE\|EMPF\|EMPF1\|HDYNIV\|OPA5
	Cytomap	12p11.21
	Type of gene	protein-coding
	Description	dynamin-1-like proteinDnm1p/Vps1p-like proteindynamin family member proline-rich carboxyl-terminal domain lessdynamin-like protein 4dynamin-like protein IVdynamin-related protein 1
	Modification date	20180523
	UniProtAcc	O00429
	Context	PubMed: DNM1L [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID)

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
DNM1L	GO:0000266	mitochondrial fission	23530241
DNM1L	GO:0003374	dynamin family protein polymerization involved in mitochondrial fission	11514614\|23530241
DNM1L	GO:0016559	peroxisome fission	12618434
DNM1L	GO:0032459	regulation of protein oligomerization	20850011
DNM1L	GO:0050714	positive regulation of protein secretion	9570752
DNM1L	GO:0051289	protein homotetramerization	18353969
DNM1L	GO:0061025	membrane fusion	20850011
DNM1L	GO:0090149	mitochondrial membrane fission	11514614

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Exon skipping events across known transcript of Ensembl for DNM1L from UCSC genome browser

Skipped exons in TCGA and GTEx 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.

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Gene isoform structures and expression levels for DNM1L

Expression levels of gene isoforms across TCGA.

Expression levels of gene isoforms across GTEx.

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Exon skipping events with PSIs in TCGA for DNM1L

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_81378	12	32854348:32854496:32858758:32858797:32860300:32860347	32858758:32858797	ENSG00000087470.13	ENST00000381000.4,ENST00000414834.2,ENST00000546649.1,ENST00000358214.5,ENST00000553257.1
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENSG00000087470.13	ENST00000551643.1
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENSG00000087470.13	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENSG00000087470.13	ENST00000550154.1
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENSG00000087470.13	ENST00000547932.1
exon_skip_81386	12	32854348:32854496:32861086:32861158:32863862:32863937	32861086:32861158	ENSG00000087470.13	ENST00000546757.1
exon_skip_81388	12	32860300:32860347:32861086:32861158:32863862:32863937	32861086:32861158	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000434676.2,ENST00000358214.5,ENST00000549926.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1,ENST00000551476.1
exon_skip_81392	12	32861086:32861158:32862477:32862541:32863862:32863937	32862477:32862541	ENSG00000087470.13	ENST00000551076.1
exon_skip_81393	12	32861086:32861158:32863862:32863949:32866142:32866253	32863862:32863949	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000546757.1,ENST00000358214.5,ENST00000549926.1,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1,ENST00000551476.1
exon_skip_81395	12	32863862:32863949:32864113:32864206:32866142:32866253	32864113:32864206	ENSG00000087470.13	ENST00000548671.1
exon_skip_81396	12	32863862:32863949:32866142:32866305:32871576:32871652	32866142:32866305	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1
exon_skip_81398	12	32863862:32863949:32871576:32871697:32873597:32873729	32871576:32871697	ENSG00000087470.13	ENST00000434676.2
exon_skip_81399	12	32866142:32866305:32871576:32871697:32873597:32873729	32871576:32871697	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000546757.1,ENST00000547548.1,ENST00000358214.5,ENST00000548750.1,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1
exon_skip_81403	12	32884419:32884445:32884787:32884877:32886648:32886741	32884787:32884877	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000550093.1,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1
exon_skip_81405	12	32884787:32884877:32885471:32885544:32886648:32886741	32885471:32885544	ENSG00000087470.13	ENST00000547078.1
exon_skip_81408	12	32890038:32890095:32890798:32890876:32891197:32891230	32890798:32890876	ENSG00000087470.13	ENST00000549701.1,ENST00000547078.1,ENST00000414834.2,ENST00000546649.1,ENST00000553257.1
exon_skip_81409	12	32890038:32890095:32890798:32890876:32892997:32893174	32890798:32890876	ENSG00000087470.13	ENST00000381000.4,ENST00000547312.1
exon_skip_81411	12	32890038:32890095:32891197:32891230:32892997:32893174	32891197:32891230	ENSG00000087470.13	ENST00000546757.1,ENST00000452533.2
exon_skip_81412	12	32890798:32890876:32891197:32891230:32892997:32893174	32891197:32891230	ENSG00000087470.13	ENST00000549701.1,ENST00000414834.2,ENST00000546649.1,ENST00000553257.1
exon_skip_81414	12	32892997:32893174:32893342:32893452:32895522:32895618	32893342:32893452	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1,ENST00000547640.1
exon_skip_81415	12	32893342:32893452:32895522:32895682:32896287:32896515	32895522:32895682	ENSG00000087470.13	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000553031.1,ENST00000266481.6,ENST00000452533.2,ENST00000553257.1

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DNM1L

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_81377	12	32854348:32854406:32858758:32858797:32860300:32860347	32858758:32858797	ENSG00000087470.13	ENST00000551476.1
exon_skip_81378	12	32854348:32854496:32858758:32858797:32860300:32860347	32858758:32858797	ENSG00000087470.13	ENST00000553257.1,ENST00000358214.5,ENST00000546649.1,ENST00000414834.2,ENST00000381000.4
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENSG00000087470.13	ENST00000551643.1
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENSG00000087470.13	ENST00000452533.2,ENST00000549701.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000434676.2,ENST00000413295.2,ENST00000547312.1,ENST00000548750.1,ENST00000549926.1
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENSG00000087470.13	ENST00000550154.1
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENSG00000087470.13	ENST00000547932.1
exon_skip_81386	12	32854348:32854496:32861086:32861158:32863862:32863937	32861086:32861158	ENSG00000087470.13	ENST00000546757.1
exon_skip_81388	12	32860300:32860347:32861086:32861158:32863862:32863937	32861086:32861158	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000548671.1,ENST00000266481.6,ENST00000551476.1,ENST00000434676.2,ENST00000547312.1,ENST00000381000.4,ENST00000549926.1
exon_skip_81392	12	32861086:32861158:32862477:32862541:32863862:32863937	32862477:32862541	ENSG00000087470.13	ENST00000551076.1
exon_skip_81393	12	32861086:32861158:32863862:32863949:32866142:32866253	32863862:32863949	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000551476.1,ENST00000547312.1,ENST00000381000.4,ENST00000549926.1,ENST00000546757.1
exon_skip_81395	12	32863862:32863949:32864113:32864206:32866142:32866253	32864113:32864206	ENSG00000087470.13	ENST00000548671.1
exon_skip_81396	12	32863862:32863949:32866142:32866305:32871576:32871652	32866142:32866305	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000547312.1,ENST00000381000.4,ENST00000546757.1
exon_skip_81398	12	32863862:32863949:32871576:32871697:32873597:32873729	32871576:32871697	ENSG00000087470.13	ENST00000434676.2
exon_skip_81399	12	32866142:32866305:32871576:32871697:32873597:32873729	32871576:32871697	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000547312.1,ENST00000381000.4,ENST00000548750.1,ENST00000546757.1,ENST00000547548.1
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000434676.2,ENST00000413295.2,ENST00000547312.1,ENST00000546649.1,ENST00000414834.2,ENST00000381000.4,ENST00000546757.1
exon_skip_81403	12	32884419:32884445:32884787:32884877:32886648:32886741	32884787:32884877	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000547312.1,ENST00000546649.1,ENST00000414834.2,ENST00000381000.4,ENST00000546757.1,ENST00000550093.1
exon_skip_81405	12	32884787:32884877:32885471:32885544:32886648:32886741	32885471:32885544	ENSG00000087470.13	ENST00000547078.1
exon_skip_81408	12	32890038:32890095:32890798:32890876:32891197:32891230	32890798:32890876	ENSG00000087470.13	ENST00000553257.1,ENST00000549701.1,ENST00000546649.1,ENST00000414834.2,ENST00000547078.1
exon_skip_81409	12	32890038:32890095:32890798:32890876:32892997:32893174	32890798:32890876	ENSG00000087470.13	ENST00000547312.1,ENST00000381000.4
exon_skip_81411	12	32890038:32890095:32891197:32891230:32892997:32893174	32891197:32891230	ENSG00000087470.13	ENST00000452533.2,ENST00000546757.1
exon_skip_81412	12	32890798:32890876:32891197:32891230:32892997:32893174	32891197:32891230	ENSG00000087470.13	ENST00000553257.1,ENST00000549701.1,ENST00000546649.1,ENST00000414834.2
exon_skip_81414	12	32892997:32893174:32893342:32893452:32895522:32895618	32893342:32893452	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000547312.1,ENST00000546649.1,ENST00000414834.2,ENST00000381000.4,ENST00000546757.1,ENST00000547640.1
exon_skip_81415	12	32893342:32893452:32895522:32895682:32896287:32896515	32895522:32895682	ENSG00000087470.13	ENST00000452533.2,ENST00000553257.1,ENST00000549701.1,ENST00000358214.5,ENST00000266481.6,ENST00000547312.1,ENST00000546649.1,ENST00000414834.2,ENST00000381000.4,ENST00000546757.1,ENST00000553031.1

PSI values of skipped exons in GTEx.

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DNM1L

Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000549701	32860300	32860347	Frame-shift
ENST00000549701	32866142	32866305	Frame-shift
ENST00000549701	32871576	32871697	Frame-shift
ENST00000549701	32893342	32893452	Frame-shift
ENST00000549701	32895522	32895682	Frame-shift
ENST00000549701	32861086	32861158	In-frame
ENST00000549701	32863862	32863949	In-frame
ENST00000549701	32875360	32875567	In-frame
ENST00000549701	32884787	32884877	In-frame
ENST00000549701	32890798	32890876	In-frame
ENST00000549701	32891197	32891230	In-frame

Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.

ENST	Start of skipped exon	End of skipped exon	ORF
ENST00000549701	32860300	32860347	Frame-shift
ENST00000549701	32866142	32866305	Frame-shift
ENST00000549701	32871576	32871697	Frame-shift
ENST00000549701	32893342	32893452	Frame-shift
ENST00000549701	32895522	32895682	Frame-shift
ENST00000549701	32861086	32861158	In-frame
ENST00000549701	32863862	32863949	In-frame
ENST00000549701	32875360	32875567	In-frame
ENST00000549701	32884787	32884877	In-frame
ENST00000549701	32890798	32890876	In-frame
ENST00000549701	32891197	32891230	In-frame

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Infer the effects of exon skipping event on protein functional features for DNM1L

Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.

Loci of skipped exons in TCGA 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
ENST00000549701	2504	736	32861086	32861158	372	443	99	123
ENST00000549701	2504	736	32863862	32863949	444	530	123	152
ENST00000549701	2504	736	32875360	32875567	947	1153	291	359
ENST00000549701	2504	736	32884787	32884877	1431	1520	452	482
ENST00000549701	2504	736	32890798	32890876	1671	1748	532	558
ENST00000549701	2504	736	32891197	32891230	1749	1781	558	569

Loci of skipped exons in GTEx 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
ENST00000549701	2504	736	32861086	32861158	372	443	99	123
ENST00000549701	2504	736	32863862	32863949	444	530	123	152
ENST00000549701	2504	736	32875360	32875567	947	1153	291	359
ENST00000549701	2504	736	32884787	32884877	1431	1520	452	482
ENST00000549701	2504	736	32890798	32890876	1671	1748	532	558
ENST00000549701	2504	736	32891197	32891230	1749	1781	558	569

Lost protein functional features of individual exon skipping events in TCGA.

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

Lost protein functional features of individual exon skipping events in GTEx.

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

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SNVs in the skipped exons for DNM1L

- Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.

- Differential PSIs between mutated versus non-mutated samples.

DNM1L_LUAD_exon_skip_81378_psi_boxplot.png
boxplot

- Non-synonymous mutations located in the skipped exons in TCGA.

Cancer type	Sample	ESID	Skipped exon start	Skipped exon end	Mutation start	Mutation end	Mutation type	Reference seq	Mutation seq	AAchange
LIHC	TCGA-DD-A39Y-01	exon_skip_81383 exon_skip_81384 exon_skip_81385	32860301	32860347	32860319	32860319	Frame_Shift_Del	G	-	p.W90fs
BLCA	TCGA-FD-A3B6-01	exon_skip_81386 exon_skip_81388	32861087	32861158	32861134	32861135	Frame_Shift_Del	AG	-	p.E116fs
BLCA	TCGA-FD-A3B6-01	exon_skip_81386 exon_skip_81388	32861087	32861158	32861134	32861135	Frame_Shift_Del	AG	-	p.T115fs
BLCA	TCGA-FD-A43X-01	exon_skip_81386 exon_skip_81388	32861087	32861158	32861134	32861135	Frame_Shift_Del	AG	-	p.E116fs
LGG	TCGA-FG-A6IZ-01	exon_skip_81386 exon_skip_81388	32861087	32861158	32861134	32861135	Frame_Shift_Del	AG	-	p.TE115fs
KIRC	TCGA-A3-3346-01	exon_skip_81393	32863863	32863949	32863894	32863894	Frame_Shift_Del	T	-	p.I134fs
LIHC	TCGA-DD-A39Y-01	exon_skip_81399 exon_skip_81398	32871577	32871697	32871623	32871623	Frame_Shift_Del	G	-	p.A222fs
LUAD	TCGA-MP-A4SV-01	exon_skip_81378	32858759	32858797	32858780	32858780	Nonsense_Mutation	C	G	p.S91*
COAD	TCGA-CA-6717-01	exon_skip_81386 exon_skip_81388	32861087	32861158	32861117	32861117	Nonsense_Mutation	G	T	p.E110X
UCEC	TCGA-AP-A056-01	exon_skip_81411 exon_skip_81412	32891198	32891230	32891219	32891219	Nonsense_Mutation	G	T	p.E566*
BRCA	TCGA-EW-A1J5-01	exon_skip_81415	32895523	32895682	32895575	32895575	Nonsense_Mutation	C	T	p.Q683*
PAAD	TCGA-IB-7651-01	exon_skip_81415	32895523	32895682	32895632	32895632	Nonsense_Mutation	G	T	p.E676*
PAAD	TCGA-IB-7651-01	exon_skip_81415	32895523	32895682	32895632	32895632	Nonsense_Mutation	G	T	p.E702*
PAAD	TCGA-IB-7651-01	exon_skip_81415	32895523	32895682	32895632	32895632	Nonsense_Mutation	G	T	p.E702X

- Depth of coverage in the three exons composing exon skipping event

Depth of coverage in three exons	Mutation description
	Sample: TCGA-AP-A056-01
	Cancer type: UCEC
	ESID: exon_skip_81412
	Skipped exon start: 32891198
	Skipped exon end: 32891230
	Mutation start: 32891219
	Mutation end: 32891219
	Mutation type: Nonsense_Mutation
	Reference seq: G
	Mutation seq: T
	AAchange: p.E566*
exon_skip_148936_UCEC_TCGA-AP-A056-01.png
exon_skip_331276_UCEC_TCGA-AP-A056-01.png
exon_skip_347552_UCEC_TCGA-AP-A056-01.png
exon_skip_37318_UCEC_TCGA-AP-A056-01.png
exon_skip_389380_UCEC_TCGA-AP-A056-01.png
exon_skip_445277_UCEC_TCGA-AP-A056-01.png
exon_skip_470936_UCEC_TCGA-AP-A056-01.png
exon_skip_54221_UCEC_TCGA-AP-A056-01.png
exon_skip_81411_UCEC_TCGA-AP-A056-01.png
	Sample: TCGA-MP-A4SV-01
	Cancer type: LUAD
	ESID: exon_skip_81378
	Skipped exon start: 32858759
	Skipped exon end: 32858797
	Mutation start: 32858780
	Mutation end: 32858780
	Mutation type: Nonsense_Mutation
	Reference seq: C
	Mutation seq: G
	AAchange: p.S91*
exon_skip_302185_LUAD_TCGA-MP-A4SV-01.png
exon_skip_81378_LUAD_TCGA-MP-A4SV-01.png

- 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
OVK18_OVARY	32861087	32861158	32861134	32861135	Frame_Shift_Del	AG	-	p.E116fs
HCC1954_BREAST	32890799	32890876	32890851	32890856	In_Frame_Del	CTGCTT	-	p.AS551del
HCC1954_MATCHED_NORMAL_TISSUE	32890799	32890876	32890851	32890856	In_Frame_Del	CTGCTT	-	p.AS551del
OCILY7_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32860301	32860347	32860343	32860343	Missense_Mutation	A	T	p.N98I
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM	32861087	32861158	32861112	32861112	Missense_Mutation	G	A	p.R108Q
JHH5_LIVER	32861087	32861158	32861123	32861123	Missense_Mutation	G	A	p.E112K
JHUEM7_ENDOMETRIUM	32861087	32861158	32861139	32861139	Missense_Mutation	G	T	p.R117I
EN_ENDOMETRIUM	32866143	32866305	32866233	32866233	Missense_Mutation	G	A	p.A183T
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32871577	32871697	32871627	32871627	Missense_Mutation	A	C	p.T224P
BICR18_UPPER_AERODIGESTIVE_TRACT	32890799	32890876	32890844	32890844	Missense_Mutation	T	C	p.S548P
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32890799	32890876	32890844	32890844	Missense_Mutation	T	C	p.S548P
SW13_ADRENAL_CORTEX	32890799	32890876	32890853	32890853	Missense_Mutation	G	A	p.A551T
BICR18_UPPER_AERODIGESTIVE_TRACT	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
DV90_LUNG	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
S117_SOFT_TISSUE	32891198	32891230	32891211	32891211	Missense_Mutation	G	A	p.S563N
LNCAPCLONEFGC_PROSTATE	32893343	32893452	32893353	32893353	Missense_Mutation	T	C	p.V632A
HEC251_ENDOMETRIUM	32893343	32893452	32893404	32893404	Missense_Mutation	G	A	p.R649Q
HCC2998_LARGE_INTESTINE	32893343	32893452	32893435	32893435	Missense_Mutation	A	C	p.R659S
NH12_AUTONOMIC_GANGLIA	32895523	32895682	32895596	32895596	Missense_Mutation	C	A	p.L690M
HEC265_ENDOMETRIUM	32895523	32895682	32895675	32895675	Missense_Mutation	T	C	p.M716T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNM1L

sQTL information located at the skipped exons.

Exon skip ID	Chromosome	Three exons	Skippped exon	ENST	Cancer type	SNP id	Location	DNA change (ref/var)	P-value
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	BRCA	rs10844318	chr12:32875406	A/G	4.77e-05
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	LGG	rs10844318	chr12:32875406	A/G	6.65e-08
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	LGG	rs10844318	chr12:32875406	A/G	7.34e-07
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	LGG	rs10844318	chr12:32875406	A/G	6.29e-06
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	PRAD	rs10844318	chr12:32875406	A/G	2.73e-07
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	STAD	rs10844318	chr12:32875406	A/G	1.48e-03
exon_skip_81401	12	32873597:32873729:32875360:32875567:32883947:32883995	32875360:32875567	ENST00000549701.1,ENST00000381000.4,ENST00000414834.2,ENST00000434676.2,ENST00000546649.1,ENST00000546757.1,ENST00000358214.5,ENST00000547312.1,ENST00000266481.6,ENST00000452533.2,ENST00000413295.2,ENST00000553257.1	THCA	rs10844318	chr12:32875406	A/G	2.49e-04
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	BRCA	rs2272238	chr12:32860302	G/A	2.61e-06
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	BRCA	rs2272238	chr12:32860302	G/A	5.37e-03
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	LGG	rs2272238	chr12:32860302	G/A	3.44e-07
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	LGG	rs2272238	chr12:32860302	G/A	4.00e-06
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	LGG	rs2272238	chr12:32860302	G/A	1.88e-05
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	PRAD	rs2272238	chr12:32860302	G/A	9.40e-07
exon_skip_81383	12	32854348:32854496:32860300:32860347:32861086:32861140	32860300:32860347	ENST00000549701.1,ENST00000434676.2,ENST00000549926.1,ENST00000548750.1,ENST00000547312.1,ENST00000548671.1,ENST00000266481.6,ENST00000551076.1,ENST00000452533.2,ENST00000413295.2	THCA	rs2272238	chr12:32860302	G/A	7.51e-04
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	BRCA	rs2272238	chr12:32860302	G/A	2.61e-06
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	BRCA	rs2272238	chr12:32860302	G/A	5.37e-03
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	LGG	rs2272238	chr12:32860302	G/A	3.44e-07
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	LGG	rs2272238	chr12:32860302	G/A	4.00e-06
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	LGG	rs2272238	chr12:32860302	G/A	1.88e-05
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	PRAD	rs2272238	chr12:32860302	G/A	9.40e-07
exon_skip_81384	12	32854348:32854496:32860300:32860347:32863862:32863937	32860300:32860347	ENST00000550154.1	THCA	rs2272238	chr12:32860302	G/A	7.51e-04
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	BRCA	rs2272238	chr12:32860302	G/A	2.61e-06
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	BRCA	rs2272238	chr12:32860302	G/A	5.37e-03
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	LGG	rs2272238	chr12:32860302	G/A	3.44e-07
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	LGG	rs2272238	chr12:32860302	G/A	4.00e-06
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	LGG	rs2272238	chr12:32860302	G/A	1.88e-05
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	PRAD	rs2272238	chr12:32860302	G/A	9.40e-07
exon_skip_81385	12	32854348:32854496:32860300:32860347:32871576:32871652	32860300:32860347	ENST00000547932.1	THCA	rs2272238	chr12:32860302	G/A	7.51e-04
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENST00000551643.1	LGG	rs11052194	chr12:32859691	G/T	2.69e-06
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENST00000551643.1	LGG	rs11052194	chr12:32859691	G/T	3.79e-04
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENST00000551643.1	LGG	rs11052194	chr12:32859691	G/T	3.52e-03
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENST00000551643.1	PRAD	rs11052194	chr12:32859691	G/T	8.93e-04
exon_skip_81379	12	32854348:32854496:32859623:32859748:32860300:32860347	32859623:32859748	ENST00000551643.1	PRAD	rs11052194	chr12:32859691	G/T	2.41e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNM1L

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNM1L

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RelatedDrugs for DNM1L

Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for DNM1L

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DNM1L	C3280660	ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION	2	ORPHANET;UNIPROT
DNM1L	C0001125	Acidosis, Lactic	1	CTD_human;HPO
DNM1L	C0025958	Microcephaly	1	CTD_human
DNM1L	C0029124	Optic Atrophy	1	CTD_human;HPO
DNM1L	C0151744	Myocardial Ischemia	1	CTD_human
DNM1L	C0162666	Mitochondrial Encephalomyopathies	1	CTD_human

	Gene summary
	Gene structures and expression levels
	Exon skipping events with PSIs in TCGA
	Exon skipping events with PSIs in GTEx
	Open reading frame (ORF) annotation in the exon skipping event
	Exon skipping events in the canonical protein sequence
	SNVs in the skipped exons with depth of coverage
	Splicing Quantitative Trait Loci (sQTLs) in the skipped exons
	Splicing Quantitative Trait Methylation (sQTM) in the skipped exon
	Related drugs with this gene
	Related diseases with this gene

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