ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DNAH11

Gene summary

Gene information	Gene symbol	DNAH11
	Gene ID	8701
	Gene name	dynein axonemal heavy chain 11
	Synonyms	CILD7\|DNAHBL\|DNAHC11\|DNHBL\|DPL11
	Cytomap	7p15.3
	Type of gene	protein-coding
	Description	dynein heavy chain 11, axonemalaxonemal beta dynein heavy chain 11axonemal dynein heavy chain 11ciliary dynein heavy chain 11dynein, axonemal, heavy polypeptide 11dynein, ciliary, heavy chain 11
	Modification date	20180523
	UniProtAcc	Q96DT5
	Context	PubMed: DNAH11 [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

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Exon skipping events across known transcript of Ensembl for DNAH11 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 DNAH11

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 DNAH11

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_464696	7	21600708:21600788:21603803:21604015:21609686:21609917	21603803:21604015	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464698	7	21609686:21609917:21611423:21611591:21621522:21621639	21611423:21611591	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464700	7	21611423:21611591:21621522:21621639:21627681:21627819	21621522:21621639	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464702	7	21628129:21628254:21628825:21629021:21630535:21630640	21628825:21629021	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464703	7	21655826:21655910:21657236:21657395:21658717:21658840	21657236:21657395	ENSG00000105877.13	ENST00000409508.3
exon_skip_464704	7	21659573:21659696:21675488:21675713:21677228:21677320	21675488:21675713	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464706	7	21678556:21678683:21695449:21695599:21698415:21698649	21695449:21695599	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464709	7	21695449:21695599:21698415:21698649:21721163:21721295	21698415:21698649	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464711	7	21721163:21721295:21723401:21723562:21726716:21726873	21723401:21723562	ENSG00000105877.13	ENST00000409508.3
exon_skip_464712	7	21726999:21727145:21730382:21730499:21737692:21737831	21730382:21730499	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464714	7	21744051:21744246:21745077:21745155:21747316:21747453	21745077:21745155	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464715	7	21779188:21779291:21781544:21781784:21784055:21784217	21781544:21781784	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464718	7	21781544:21781784:21784055:21784217:21784487:21784537	21784055:21784217	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464719	7	21826241:21826385:21827018:21827201:21828858:21828960	21827018:21827201	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464722	7	21857834:21857957:21882161:21882366:21892084:21892249	21882161:21882366	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464724	7	21908481:21908609:21912891:21913119:21920319:21920511	21912891:21913119	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3
exon_skip_464725	7	21934240:21934423:21934501:21934617:21938953:21939066	21934501:21934617	ENSG00000105877.13	ENST00000328843.6,ENST00000409508.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DNAH11

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_464696	7	21600708:21600788:21603803:21604015:21609686:21609917	21603803:21604015	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464698	7	21609686:21609917:21611423:21611591:21621522:21621639	21611423:21611591	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464700	7	21611423:21611591:21621522:21621639:21627681:21627819	21621522:21621639	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464702	7	21628129:21628254:21628825:21629021:21630535:21630640	21628825:21629021	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464703	7	21655826:21655910:21657236:21657395:21658717:21658840	21657236:21657395	ENSG00000105877.13	ENST00000409508.3
exon_skip_464704	7	21659573:21659696:21675488:21675713:21677228:21677320	21675488:21675713	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464706	7	21678556:21678683:21695449:21695599:21698415:21698649	21695449:21695599	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464709	7	21695449:21695599:21698415:21698649:21721163:21721295	21698415:21698649	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464711	7	21721163:21721295:21723401:21723562:21726716:21726873	21723401:21723562	ENSG00000105877.13	ENST00000409508.3
exon_skip_464712	7	21726999:21727145:21730382:21730499:21737692:21737831	21730382:21730499	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464714	7	21744051:21744246:21745077:21745155:21747316:21747453	21745077:21745155	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464715	7	21779188:21779291:21781544:21781784:21784055:21784217	21781544:21781784	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464718	7	21781544:21781784:21784055:21784217:21784487:21784537	21784055:21784217	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464719	7	21826241:21826385:21827018:21827201:21828858:21828960	21827018:21827201	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464722	7	21857834:21857957:21882161:21882366:21892084:21892249	21882161:21882366	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464724	7	21908481:21908609:21912891:21913119:21920319:21920511	21912891:21913119	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6
exon_skip_464725	7	21934240:21934423:21934501:21934617:21938953:21939066	21934501:21934617	ENSG00000105877.13	ENST00000409508.3,ENST00000328843.6

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 DNAH11

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
ENST00000409508	21603803	21604015	Frame-shift
ENST00000409508	21628825	21629021	Frame-shift
ENST00000409508	21723401	21723562	Frame-shift
ENST00000409508	21882161	21882366	Frame-shift
ENST00000409508	21934501	21934617	Frame-shift
ENST00000409508	21611423	21611591	In-frame
ENST00000409508	21621522	21621639	In-frame
ENST00000409508	21657236	21657395	In-frame
ENST00000409508	21675488	21675713	In-frame
ENST00000409508	21695449	21695599	In-frame
ENST00000409508	21698415	21698649	In-frame
ENST00000409508	21730382	21730499	In-frame
ENST00000409508	21745077	21745155	In-frame
ENST00000409508	21781544	21781784	In-frame
ENST00000409508	21784055	21784217	In-frame
ENST00000409508	21827018	21827201	In-frame
ENST00000409508	21912891	21913119	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
ENST00000409508	21603803	21604015	Frame-shift
ENST00000409508	21628825	21629021	Frame-shift
ENST00000409508	21723401	21723562	Frame-shift
ENST00000409508	21882161	21882366	Frame-shift
ENST00000409508	21934501	21934617	Frame-shift
ENST00000409508	21611423	21611591	In-frame
ENST00000409508	21621522	21621639	In-frame
ENST00000409508	21657236	21657395	In-frame
ENST00000409508	21675488	21675713	In-frame
ENST00000409508	21695449	21695599	In-frame
ENST00000409508	21698415	21698649	In-frame
ENST00000409508	21730382	21730499	In-frame
ENST00000409508	21745077	21745155	In-frame
ENST00000409508	21781544	21781784	In-frame
ENST00000409508	21784055	21784217	In-frame
ENST00000409508	21827018	21827201	In-frame
ENST00000409508	21912891	21913119	In-frame

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Infer the effects of exon skipping event on protein functional features for DNAH11

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
ENST00000409508	14184	4516	21611423	21611591	1457	1624	475	531
ENST00000409508	14184	4516	21621522	21621639	1625	1741	531	570
ENST00000409508	14184	4516	21657236	21657395	4127	4285	1365	1418
ENST00000409508	14184	4516	21675488	21675713	4532	4756	1500	1575
ENST00000409508	14184	4516	21695449	21695599	4976	5125	1648	1698
ENST00000409508	14184	4516	21698415	21698649	5126	5359	1698	1776
ENST00000409508	14184	4516	21730382	21730499	5956	6072	1975	2013
ENST00000409508	14184	4516	21745077	21745155	6500	6577	2156	2182
ENST00000409508	14184	4516	21781544	21781784	7946	8185	2638	2718
ENST00000409508	14184	4516	21784055	21784217	8186	8347	2718	2772
ENST00000409508	14184	4516	21827018	21827201	9773	9955	3247	3308
ENST00000409508	14184	4516	21912891	21913119	11999	12226	3989	4065

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
ENST00000409508	14184	4516	21611423	21611591	1457	1624	475	531
ENST00000409508	14184	4516	21621522	21621639	1625	1741	531	570
ENST00000409508	14184	4516	21657236	21657395	4127	4285	1365	1418
ENST00000409508	14184	4516	21675488	21675713	4532	4756	1500	1575
ENST00000409508	14184	4516	21695449	21695599	4976	5125	1648	1698
ENST00000409508	14184	4516	21698415	21698649	5126	5359	1698	1776
ENST00000409508	14184	4516	21730382	21730499	5956	6072	1975	2013
ENST00000409508	14184	4516	21745077	21745155	6500	6577	2156	2182
ENST00000409508	14184	4516	21781544	21781784	7946	8185	2638	2718
ENST00000409508	14184	4516	21784055	21784217	8186	8347	2718	2772
ENST00000409508	14184	4516	21827018	21827201	9773	9955	3247	3308
ENST00000409508	14184	4516	21912891	21913119	11999	12226	3989	4065

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
Q96DT5	475	531	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	475	531	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	531	570	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	531	570	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1365	1418	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1365	1418	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1500	1575	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1500	1575	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1648	1698	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1648	1698	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1698	1776	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1698	1776	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1975	2013	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1975	2013	1855	2076	Region	Note=AAA 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2156	2182	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2156	2182	2174	2181	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96DT5	2156	2182	2136	2366	Region	Note=AAA 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2638	2718	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2638	2718	2675	2675	Natural variant	ID=VAR_013858;Note=I->V;Dbxref=dbSNP:rs72657364
Q96DT5	2638	2718	2472	2719	Region	Note=AAA 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2718	2772	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2718	2772	2472	2719	Region	Note=AAA 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	3247	3308	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	3247	3308	3072	3403	Region	Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	3989	4065	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	3989	4065	3896	4122	Region	Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250

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
Q96DT5	475	531	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	475	531	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	531	570	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	531	570	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1365	1418	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1365	1418	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1500	1575	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1500	1575	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1648	1698	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1648	1698	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1698	1776	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1698	1776	1	1854	Region	Note=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	1975	2013	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	1975	2013	1855	2076	Region	Note=AAA 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2156	2182	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2156	2182	2174	2181	Nucleotide binding	Note=ATP;Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96DT5	2156	2182	2136	2366	Region	Note=AAA 2;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2638	2718	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2638	2718	2675	2675	Natural variant	ID=VAR_013858;Note=I->V;Dbxref=dbSNP:rs72657364
Q96DT5	2638	2718	2472	2719	Region	Note=AAA 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	2718	2772	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	2718	2772	2472	2719	Region	Note=AAA 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	3247	3308	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	3247	3308	3072	3403	Region	Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96DT5	3989	4065	1	4516	Chain	ID=PRO_0000114633;Note=Dynein heavy chain 11%2C axonemal
Q96DT5	3989	4065	3896	4122	Region	Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250

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SNVs in the skipped exons for DNAH11

- 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.

- 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-A3A0-01	exon_skip_464696	21603804	21604015	21603816	21603816	Frame_Shift_Del	C	-	p.A332fs
LIHC	TCGA-DD-A1EG-01	exon_skip_464696	21603804	21604015	21603828	21603828	Frame_Shift_Del	A	-	p.E336fs
LIHC	TCGA-DD-A1EG-01	exon_skip_464696	21603804	21604015	21604010	21604010	Frame_Shift_Del	A	-	p.N397fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_464698	21611424	21611591	21611484	21611484	Frame_Shift_Del	A	-	p.K496fs
UCEC	TCGA-AP-A0LE-01	exon_skip_464704	21675489	21675713	21675634	21675634	Frame_Shift_Del	T	-	p.I1554fs
LIHC	TCGA-DD-A1EG-01	exon_skip_464706	21695450	21695599	21695553	21695553	Frame_Shift_Del	A	-	p.E1688fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_464709	21698416	21698649	21698641	21698641	Frame_Shift_Del	A	-	p.K1780fs
LIHC	TCGA-DD-A39Y-01	exon_skip_464712	21730383	21730499	21730493	21730493	Frame_Shift_Del	T	-	p.L2019fs
LGG	TCGA-WY-A85C-01	exon_skip_464715	21781545	21781784	21781718	21781718	Frame_Shift_Del	C	-	p.N2703fs
PRAD	TCGA-EJ-7327-01	exon_skip_464722	21882162	21882366	21882351	21882351	Frame_Shift_Del	T	-	p.D3634fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_464724	21912892	21913119	21913075	21913075	Frame_Shift_Del	G	-	p.G4058fs
TGCT	TCGA-VF-A8AA-01	exon_skip_464715	21781545	21781784	21781683	21781684	Frame_Shift_Ins	-	C	p.N2692fs
LIHC	TCGA-BC-A112-01	exon_skip_464718	21784056	21784217	21784201	21784202	Frame_Shift_Ins	-	T	p.V2774fs
SKCM	TCGA-D3-A2JD-06	exon_skip_464702	21628826	21629021	21628922	21628922	Nonsense_Mutation	G	A	p.W690*
UCEC	TCGA-AP-A059-01	exon_skip_464704	21675489	21675713	21675657	21675657	Nonsense_Mutation	C	T	p.R1562*
UCS	TCGA-ND-A4WC-01	exon_skip_464704	21675489	21675713	21675657	21675657	Nonsense_Mutation	C	T	p.R1562*
BLCA	TCGA-FD-A3B6-01	exon_skip_464711	21723402	21723562	21723453	21723453	Nonsense_Mutation	G	T	p.E1845*
LUAD	TCGA-78-7155-01	exon_skip_464718	21784056	21784217	21784174	21784174	Nonsense_Mutation	T	A	p.L2765*
UCEC	TCGA-AX-A0J1-01	exon_skip_464696	21603804	21604015	21604017	21604017	Splice_Site	T	C	e6+2
UCEC	TCGA-B5-A0JY-01	exon_skip_464702	21628826	21629021	21628825	21628825	Splice_Site	G	T	e12-1
ESCA	TCGA-Z6-A9VB-01	exon_skip_464703	21657237	21657395	21657235	21657235	Splice_Site	A	G	e23-2
LUAD	TCGA-64-5775-01	exon_skip_464712	21730383	21730499	21730382	21730382	Splice_Site	G	C	p.R1982_splice

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

Depth of coverage in three exons

Mutation description

- 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
SNU503_LARGE_INTESTINE	21784056	21784217	21784156	21784156	Frame_Shift_Del	A	-	p.D2752fs
BICR16_UPPER_AERODIGESTIVE_TRACT	21784056	21784217	21784158	21784158	Frame_Shift_Del	A	-	p.K2754fs
2313287_STOMACH	21784056	21784217	21784157	21784158	Frame_Shift_Ins	-	A	p.K2753fs
SNU478_BILIARY_TRACT	21603804	21604015	21603809	21603809	Missense_Mutation	C	T	p.L330F
NCIH2347_LUNG	21603804	21604015	21603846	21603846	Missense_Mutation	T	C	p.L342P
LC1F_LUNG	21603804	21604015	21603894	21603894	Missense_Mutation	G	A	p.R358H
LC1SQSF_LUNG	21603804	21604015	21603894	21603894	Missense_Mutation	G	A	p.R358H
LC1SQ_LUNG	21603804	21604015	21603894	21603894	Missense_Mutation	G	A	p.R358H
NCIH1568_LUNG	21603804	21604015	21603937	21603937	Missense_Mutation	G	C	p.W372C
H4_CENTRAL_NERVOUS_SYSTEM	21603804	21604015	21603968	21603968	Missense_Mutation	C	T	p.R383W
SCC15_UPPER_AERODIGESTIVE_TRACT	21603804	21604015	21603990	21603990	Missense_Mutation	A	G	p.E390G
HCC2998_LARGE_INTESTINE	21611424	21611591	21611493	21611493	Missense_Mutation	A	G	p.I499V
SW684_SOFT_TISSUE	21611424	21611591	21611534	21611535	Missense_Mutation	GG	AA	p.512_513ME>IK
VMRCRCW_KIDNEY	21611424	21611591	21611547	21611547	Missense_Mutation	C	T	p.L517F
HEC251_ENDOMETRIUM	21611424	21611591	21611563	21611563	Missense_Mutation	C	A	p.T522N
DOV13_OVARY	21621523	21621639	21621583	21621583	Missense_Mutation	G	T	p.G552W
NCIH630_LARGE_INTESTINE	21621523	21621639	21621608	21621608	Missense_Mutation	T	C	p.F560S
HCC2157_BREAST	21621523	21621639	21621617	21621617	Missense_Mutation	A	G	p.N563S
HCC2157_MATCHED_NORMAL_TISSUE	21621523	21621639	21621617	21621617	Missense_Mutation	A	G	p.N563S
KP3_PANCREAS	21621523	21621639	21621627	21621627	Missense_Mutation	A	C	p.E566D
COLO783_SKIN	21628826	21629021	21628845	21628845	Missense_Mutation	C	T	p.H665Y
SNU387_LIVER	21628826	21629021	21628928	21628928	Missense_Mutation	T	A	p.S692R
DU4475_BREAST	21628826	21629021	21628929	21628929	Missense_Mutation	A	T	p.N693Y
LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM	21628826	21629021	21628935	21628935	Missense_Mutation	G	A	p.D695N
NCIH2087_LUNG	21628826	21629021	21628986	21628986	Missense_Mutation	A	G	p.I712V
UACC893_BREAST	21628826	21629021	21628995	21628995	Missense_Mutation	C	T	p.L715F
QIMRWIL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21657237	21657395	21657305	21657305	Missense_Mutation	G	T	p.K1388N
MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21657237	21657395	21657328	21657328	Missense_Mutation	C	G	p.A1396G
NCIH446_LUNG	21657237	21657395	21657357	21657357	Missense_Mutation	A	G	p.R1406G
IM95_STOMACH	21675489	21675713	21675569	21675569	Missense_Mutation	C	G	p.N1527K
MKN1_STOMACH	21675489	21675713	21675569	21675569	Missense_Mutation	C	G	p.N1527K
HO1U1_UPPER_AERODIGESTIVE_TRACT	21675489	21675713	21675569	21675569	Missense_Mutation	C	G	p.N1527K
MYM12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21675489	21675713	21675569	21675569	Missense_Mutation	C	G	p.N1527K
NBSUSSR_AUTONOMIC_GANGLIA	21675489	21675713	21675569	21675569	Missense_Mutation	C	G	p.N1527K
CORL279_LUNG	21675489	21675713	21675610	21675610	Missense_Mutation	G	A	p.R1541Q
KOSC2_UPPER_AERODIGESTIVE_TRACT	21675489	21675713	21675646	21675646	Missense_Mutation	C	T	p.S1553L
SNU1040_LARGE_INTESTINE	21675489	21675713	21675658	21675658	Missense_Mutation	G	A	p.R1557Q
NCIH2342_LUNG	21698416	21698649	21698427	21698427	Missense_Mutation	G	T	p.W1702C
ESO51_OESOPHAGUS	21698416	21698649	21698491	21698491	Missense_Mutation	G	A	p.A1724T
MKN74_STOMACH	21698416	21698649	21698497	21698497	Missense_Mutation	G	A	p.E1726K
MKN28_STOMACH	21698416	21698649	21698497	21698497	Missense_Mutation	G	A	p.E1726K
SW480_LARGE_INTESTINE	21698416	21698649	21698511	21698511	Missense_Mutation	G	C	p.R1730S
PL18_PANCREAS	21698416	21698649	21698520	21698520	Missense_Mutation	G	T	p.W1733C
CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21698416	21698649	21698527	21698527	Missense_Mutation	G	A	p.D1736N
PACADD161_PANCREAS	21698416	21698649	21698552	21698552	Missense_Mutation	C	A	p.T1744N
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21698416	21698649	21698585	21698585	Missense_Mutation	G	C	p.G1755A
HEC251_ENDOMETRIUM	21698416	21698649	21698617	21698617	Missense_Mutation	G	A	p.E1766K
CP67MEL_SKIN	21698416	21698649	21698617	21698617	Missense_Mutation	G	A	p.E1766K
JHOS4_OVARY	21723402	21723562	21723424	21723424	Missense_Mutation	C	T	p.T1828I
HCC2450_LUNG	21730383	21730499	21730393	21730393	Missense_Mutation	C	A	p.L1979I
DU145_PROSTATE	21730383	21730499	21730402	21730402	Missense_Mutation	G	T	p.A1982S
PACADD161_PANCREAS	21730383	21730499	21730442	21730442	Missense_Mutation	T	C	p.M1995T
HCC1419_BREAST	21730383	21730499	21730451	21730451	Missense_Mutation	G	A	p.G1998D
BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21781545	21781784	21781734	21781734	Missense_Mutation	A	T	p.I2702F
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21781545	21781784	21781743	21781743	Missense_Mutation	C	A	p.H2705N
YT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21781545	21781784	21781745	21781745	Missense_Mutation	C	G	p.H2705Q
SNU81_LARGE_INTESTINE	21784056	21784217	21784072	21784072	Missense_Mutation	C	A	p.S2724Y
SNU1040_LARGE_INTESTINE	21784056	21784217	21784116	21784116	Missense_Mutation	C	T	p.L2739F
KMH2_THYROID	21784056	21784217	21784145	21784145	Missense_Mutation	C	A	p.D2748E
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21784056	21784217	21784164	21784164	Missense_Mutation	G	T	p.D2755Y
RL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21784056	21784217	21784188	21784188	Missense_Mutation	A	C	p.M2763L
GP2D_LARGE_INTESTINE	21827019	21827201	21827049	21827049	Missense_Mutation	T	C	p.Y3258H
ES1_BONE	21827019	21827201	21827070	21827070	Missense_Mutation	G	C	p.E3265Q
JEG3_PLACENTA	21827019	21827201	21827127	21827127	Missense_Mutation	A	T	p.N3284Y
451LU_SKIN	21827019	21827201	21827137	21827137	Missense_Mutation	G	A	p.R3287Q
SW684_SOFT_TISSUE	21827019	21827201	21827137	21827137	Missense_Mutation	G	A	p.R3287Q
NCIH1666_LUNG	21827019	21827201	21827194	21827194	Missense_Mutation	T	G	p.F3306C
HCT15_LARGE_INTESTINE	21882162	21882366	21882164	21882164	Missense_Mutation	A	G	p.Y3565C
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21882162	21882366	21882171	21882171	Missense_Mutation	G	T	p.R3567S
OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21882162	21882366	21882325	21882325	Missense_Mutation	G	A	p.E3619K
COLO668_LUNG	21912892	21913119	21912949	21912949	Missense_Mutation	A	G	p.S4009G
HCC515_LUNG	21912892	21913119	21913007	21913007	Missense_Mutation	C	G	p.P4028R
NCIH1734_LUNG	21912892	21913119	21913031	21913031	Missense_Mutation	G	T	p.G4036V
RKO_LARGE_INTESTINE	21912892	21913119	21913064	21913064	Missense_Mutation	A	G	p.E4047G
SNUC4_LARGE_INTESTINE	21912892	21913119	21913073	21913073	Missense_Mutation	C	T	p.T4050I
RKO_LARGE_INTESTINE	21912892	21913119	21913092	21913092	Missense_Mutation	G	T	p.L4056F
MEC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21934502	21934617	21934560	21934560	Missense_Mutation	C	T	p.T4331M
NCIH1648_LUNG	21934502	21934617	21934566	21934566	Missense_Mutation	C	G	p.P4333R
HEC251_ENDOMETRIUM	21882162	21882366	21882184	21882184	Nonsense_Mutation	G	T	p.E3572*
KYSE520_OESOPHAGUS	21621523	21621639	21621639	21621639	Splice_Site	G	A	p.K570K
KYSE520_OESOPHAGUS	21621523	21621639	21621639	21621640	Splice_Site	GG	AA	p.K570K
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	21628826	21629021	21628826	21628826	Splice_Site	A	G	p.L658L
SNUC4_LARGE_INTESTINE	21745078	21745155	21745078	21745078	Splice_Site	G	A	p.V2157I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH11

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

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH11

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH11

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RelatedDrugs for DNAH11

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 DNAH11

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DNAH11	C0010068	Coronary heart disease	1	CTD_human
DNAH11	C0043094	Weight Gain	1	CTD_human
DNAH11	C0242339	Dyslipidemias	1	CTD_human
DNAH11	C2678473	CILIARY DYSKINESIA, PRIMARY, 7 (disorder)	1	CTD_human;UNIPROT

	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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