ExonSkipDB: functional annotation of exon skipping event in human

Gene summary for DNAH8

Gene summary

Gene information	Gene symbol	DNAH8
	Gene ID	1769
	Gene name	dynein axonemal heavy chain 8
	Synonyms	ATPase\|hdhc9
	Cytomap	6p21.2
	Type of gene	protein-coding
	Description	dynein heavy chain 8, axonemalaxonemal beta dynein heavy chain 8ciliary dynein heavy chain 8dynein, axonemal, heavy polypeptide 8
	Modification date	20180523
	UniProtAcc	Q96JB1
	Context	PubMed: DNAH8 [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 DNAH8 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 DNAH8

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 DNAH8

Information of exkip skipping event in TCGA.

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_451452	6	38691112:38691247:38697677:38697762:38702249:38702290	38697677:38697762	ENSG00000124721.13	ENST00000327475.6,ENST00000373278.4,ENST00000449981.2
exon_skip_451453	6	38691112:38691247:38702249:38702401:38704842:38705032	38702249:38702401	ENSG00000124721.13	ENST00000359357.3
exon_skip_451454	6	38743529:38743727:38746163:38746240:38747741:38747841	38746163:38746240	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451455	6	38800097:38800211:38802354:38802417:38805717:38805818	38802354:38802417	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451456	6	38830055:38830234:38831648:38831836:38834366:38834453	38831648:38831836	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451457	6	38834366:38834453:38834544:38834652:38835837:38835972	38834544:38834652	ENSG00000124721.13	ENST00000327475.6,ENST00000359357.3,ENST00000449981.2
exon_skip_451459	6	38834366:38834453:38835837:38835972:38838176:38838266	38835837:38835972	ENSG00000124721.13	ENST00000441566.1,ENST00000394393.3
exon_skip_451460	6	38834544:38834652:38835837:38835972:38838176:38838266	38835837:38835972	ENSG00000124721.13	ENST00000327475.6,ENST00000359357.3,ENST00000449981.2
exon_skip_451462	6	38841011:38841152:38843366:38843604:38850685:38850828	38843366:38843604	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451463	6	38850685:38850828:38851097:38851232:38851651:38851774	38851097:38851232	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451464	6	38881624:38881728:38882976:38883153:38885014:38885182	38882976:38883153	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451465	6	38905749:38906002:38906573:38906764:38913242:38913364	38906573:38906764	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451467	6	38913242:38913364:38917227:38917346:38919093:38919296	38917227:38917346	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3,ENST00000449981.2
exon_skip_451468	6	38941436:38941589:38942149:38942305:38950121:38950238	38942149:38942305	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3
exon_skip_451469	6	38976589:38976746:38979990:38980143:38980223:38980413	38979990:38980143	ENSG00000124721.13	ENST00000327475.6,ENST00000441566.1,ENST00000359357.3

PSI values of skipped exons in TCGA.

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Exon skipping events with PSIs in GTEx for DNAH8

Information of exkip skipping event in GTEx

Exon skip ID	chr	Exons involved in exon skipping	Skipped exon	ENSG	ENSTs
exon_skip_451452	6	38691112:38691247:38697677:38697762:38702249:38702290	38697677:38697762	ENSG00000124721.13	ENST00000449981.2,ENST00000373278.4,ENST00000327475.6
exon_skip_451453	6	38691112:38691247:38702249:38702401:38704842:38705032	38702249:38702401	ENSG00000124721.13	ENST00000359357.3
exon_skip_451454	6	38743529:38743727:38746163:38746240:38747741:38747841	38746163:38746240	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451455	6	38800097:38800211:38802354:38802417:38805717:38805818	38802354:38802417	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451456	6	38830055:38830234:38831648:38831836:38834366:38834453	38831648:38831836	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451457	6	38834366:38834453:38834544:38834652:38835837:38835972	38834544:38834652	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3
exon_skip_451462	6	38841011:38841152:38843366:38843604:38850685:38850828	38843366:38843604	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451464	6	38881624:38881728:38882976:38883153:38885014:38885182	38882976:38883153	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451467	6	38913242:38913364:38917227:38917346:38919093:38919296	38917227:38917346	ENSG00000124721.13	ENST00000449981.2,ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451468	6	38941436:38941589:38942149:38942305:38950121:38950238	38942149:38942305	ENSG00000124721.13	ENST00000327475.6,ENST00000359357.3,ENST00000441566.1
exon_skip_451469	6	38976589:38976746:38979990:38980143:38980223:38980413	38979990:38980143	ENSG00000124721.13	ENST00000327475.6,ENST00000359357.3,ENST00000441566.1

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 DNAH8

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
ENST00000359357	38702249	38702401	5CDS-5UTR
ENST00000359357	38746163	38746240	Frame-shift
ENST00000359357	38831648	38831836	Frame-shift
ENST00000359357	38843366	38843604	Frame-shift
ENST00000359357	38906573	38906764	Frame-shift
ENST00000359357	38917227	38917346	Frame-shift
ENST00000359357	38802354	38802417	In-frame
ENST00000359357	38834544	38834652	In-frame
ENST00000359357	38835837	38835972	In-frame
ENST00000359357	38851097	38851232	In-frame
ENST00000359357	38882976	38883153	In-frame
ENST00000359357	38942149	38942305	In-frame
ENST00000359357	38979990	38980143	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
ENST00000359357	38702249	38702401	5CDS-5UTR
ENST00000359357	38746163	38746240	Frame-shift
ENST00000359357	38831648	38831836	Frame-shift
ENST00000359357	38843366	38843604	Frame-shift
ENST00000359357	38917227	38917346	Frame-shift
ENST00000359357	38802354	38802417	In-frame
ENST00000359357	38834544	38834652	In-frame
ENST00000359357	38882976	38883153	In-frame
ENST00000359357	38942149	38942305	In-frame
ENST00000359357	38979990	38980143	In-frame

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Infer the effects of exon skipping event on protein functional features for DNAH8

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
ENST00000359357	13877	4490	38802354	38802417	3906	3968	1217	1238
ENST00000359357	13877	4490	38834544	38834652	6189	6296	1978	2014
ENST00000359357	13877	4490	38835837	38835972	6297	6431	2014	2059
ENST00000359357	13877	4490	38851097	38851232	7605	7739	2450	2495
ENST00000359357	13877	4490	38882976	38883153	9567	9743	3104	3163
ENST00000359357	13877	4490	38942149	38942305	12282	12437	4009	4061
ENST00000359357	13877	4490	38979990	38980143	12975	13127	4240	4291

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
ENST00000359357	13877	4490	38802354	38802417	3906	3968	1217	1238
ENST00000359357	13877	4490	38834544	38834652	6189	6296	1978	2014
ENST00000359357	13877	4490	38882976	38883153	9567	9743	3104	3163
ENST00000359357	13877	4490	38942149	38942305	12282	12437	4009	4061
ENST00000359357	13877	4490	38979990	38980143	12975	13127	4240	4291

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
Q96JB1	1217	1238	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	1978	2014	1978	2013	Alternative sequence	ID=VSP_022614;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96JB1	1978	2014	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	1978	2014	1808	2030	Region	Note=AAA 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	2014	2059	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	2014	2059	1808	2030	Region	Note=AAA 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	2450	2495	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	2450	2495	2416	2669	Region	Note=AAA 3;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	3104	3163	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	3104	3163	3072	3164	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96JB1	3104	3163	3049	3346	Region	Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	4009	4061	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	4009	4061	3877	4091	Region	Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	4240	4291	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	4240	4291	4271	4271	Natural variant	ID=VAR_030179;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12297094;Dbxref=dbSNP:rs10484847,PMID:12297094

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
Q96JB1	1217	1238	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	1978	2014	1978	2013	Alternative sequence	ID=VSP_022614;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96JB1	1978	2014	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	1978	2014	1808	2030	Region	Note=AAA 1;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	3104	3163	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	3104	3163	3072	3164	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q96JB1	3104	3163	3049	3346	Region	Note=Stalk;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	4009	4061	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	4009	4061	3877	4091	Region	Note=AAA 6;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q96JB1	4240	4291	1	4490	Chain	ID=PRO_0000274044;Note=Dynein heavy chain 8%2C axonemal
Q96JB1	4240	4291	4271	4271	Natural variant	ID=VAR_030179;Note=I->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:12297094;Dbxref=dbSNP:rs10484847,PMID:12297094

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SNVs in the skipped exons for DNAH8

- 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-A1EG-01	exon_skip_451453	38702250	38702401	38702348	38702348	Frame_Shift_Del	T	-	p.F21fs
LIHC	TCGA-DD-A1EG-01	exon_skip_451454	38746164	38746240	38746193	38746193	Frame_Shift_Del	T	-	p.S447fs
LIHC	TCGA-DD-A39Y-01	exon_skip_451454	38746164	38746240	38746200	38746200	Frame_Shift_Del	A	-	p.K450fs
STAD	TCGA-BR-6802-01	exon_skip_451456	38831649	38831836	38831685	38831697	Frame_Shift_Del	AGTTTAACAGAAT	-	p.E2116fs
COAD	TCGA-AZ-6598-01	exon_skip_451456	38831649	38831836	38831778	38831778	Frame_Shift_Del	T	-	p.I2147fs
LIHC	TCGA-DD-A1EG-01	exon_skip_451456	38831649	38831836	38831778	38831778	Frame_Shift_Del	T	-	p.I1930fs
HNSC	TCGA-CR-7371-01	exon_skip_451457	38834545	38834652	38834618	38834618	Frame_Shift_Del	T	-	p.L2003fs
LIHC	TCGA-DD-A1EG-01	exon_skip_451462	38843367	38843604	38843394	38843394	Frame_Shift_Del	C	-	p.P2333fs
KIRP	TCGA-G7-6796-01	exon_skip_451462	38843367	38843604	38843585	38843585	Frame_Shift_Del	G	-	p.E2396fs
KIRP	TCGA-G7-6796-01	exon_skip_451462	38843367	38843604	38843585	38843585	Frame_Shift_Del	G	-	p.E2613fs
LIHC	TCGA-DD-A39Y-01	exon_skip_451463	38851098	38851232	38851130	38851130	Frame_Shift_Del	A	-	p.A2461fs
LIHC	TCGA-DD-A3A0-01	exon_skip_451463	38851098	38851232	38851130	38851130	Frame_Shift_Del	A	-	p.A2461fs
LIHC	TCGA-DD-A3A0-01	exon_skip_451463	38851098	38851232	38851158	38851158	Frame_Shift_Del	A	-	p.K2472fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_451464	38882977	38883153	38883056	38883056	Frame_Shift_Del	A	-	p.Q3131fs
LIHC	TCGA-G3-A3CJ-01	exon_skip_451467	38917228	38917346	38917252	38917252	Frame_Shift_Del	A	-	p.K3835fs
LIHC	TCGA-DD-A1EG-01	exon_skip_451468	38942150	38942305	38942201	38942201	Frame_Shift_Del	A	-	p.K4027fs
LIHC	TCGA-DD-A1EG-01	exon_skip_451468	38942150	38942305	38942252	38942252	Frame_Shift_Del	C	-	p.P4044fs
BLCA	TCGA-K4-A6FZ-01	exon_skip_451452	38697678	38697762	38697694	38697695	Frame_Shift_Ins	-	T	p.NF181fs
STAD	TCGA-CD-8536-01	exon_skip_451452	38697678	38697762	38697694	38697695	Frame_Shift_Ins	-	T	p.N181fs
THCA	TCGA-EM-A3FM-01	exon_skip_451452	38697678	38697762	38697694	38697695	Frame_Shift_Ins	-	T	p.I181fs
STAD	TCGA-CD-8536-01	exon_skip_451452	38697678	38697762	38697695	38697696	Frame_Shift_Ins	-	T	p.N181fs
STAD	TCGA-CD-A4MG-01	exon_skip_451452	38697678	38697762	38697695	38697696	Frame_Shift_Ins	-	T	p.N181fs
LIHC	TCGA-BC-A112-01	exon_skip_451456	38831649	38831836	38831777	38831778	Frame_Shift_Ins	-	T	p.F1930fs
LUAD	TCGA-MP-A4SV-01	exon_skip_451467	38917228	38917346	38917244	38917245	Frame_Shift_Ins	-	T	p.R3832fs
READ	TCGA-AG-A002-01	exon_skip_451456	38831649	38831836	38831813	38831813	Nonsense_Mutation	G	T	p.E2159X
SKCM	TCGA-EE-A3AE-06	exon_skip_451467	38917228	38917346	38917251	38917251	Nonsense_Mutation	G	A	p.W3834*
SKCM	TCGA-EE-A3AE-06	exon_skip_451467	38917228	38917346	38917251	38917251	Nonsense_Mutation	G	A	p.W4051X
LIHC	TCGA-DD-AACQ-01	exon_skip_451452	38697678	38697762	38697676	38697676	Splice_Site	A	T	.
LUSC	TCGA-85-6561-01	exon_skip_451463	38851098	38851232	38851097	38851097	Splice_Site	G	T	p.A2668_splice
UCS	TCGA-NA-A5I1-01	exon_skip_451468	38942150	38942305	38942307	38942307	Splice_Site	T	C	.

- 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
ISTMEL1_SKIN	38979991	38980143	38980067	38980068	Frame_Shift_Del	AA	-	p.Q4266fs
NCIH2170_LUNG	38702250	38702401	38702329	38702329	Missense_Mutation	A	T	p.K13N
CW2_LARGE_INTESTINE	38702250	38702401	38702343	38702343	Missense_Mutation	G	A	p.C18Y
FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38702250	38702401	38702343	38702343	Missense_Mutation	G	T	p.C18F
HEC6_ENDOMETRIUM	38702250	38702401	38702358	38702358	Missense_Mutation	G	A	p.R23H
GEO_LARGE_INTESTINE	38702250	38702401	38702361	38702361	Missense_Mutation	G	C	p.C24S
SNGM_ENDOMETRIUM	38746164	38746240	38746189	38746189	Missense_Mutation	G	A	p.S446N
NCIH2066_LUNG	38746164	38746240	38746189	38746189	Missense_Mutation	G	C	p.S446T
LU165_LUNG	38746164	38746240	38746216	38746216	Missense_Mutation	A	T	p.Q455L
HCC2450_LUNG	38831649	38831836	38831667	38831667	Missense_Mutation	C	A	p.S1893Y
JIMT1_BREAST	38831649	38831836	38831685	38831685	Missense_Mutation	A	C	p.E1899A
HCC56_LARGE_INTESTINE	38831649	38831836	38831699	38831699	Missense_Mutation	G	C	p.E1904Q
KNS60_CENTRAL_NERVOUS_SYSTEM	38831649	38831836	38831702	38831702	Missense_Mutation	T	A	p.L1905M
HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38831649	38831836	38831744	38831744	Missense_Mutation	T	A	p.L1919M
SKGIIIA_CERVIX	38831649	38831836	38831772	38831772	Missense_Mutation	A	G	p.Q1928R
CORL32_LUNG	38831649	38831836	38831783	38831783	Missense_Mutation	T	G	p.S1932A
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38831649	38831836	38831799	38831799	Missense_Mutation	T	C	p.V1937A
HT115_LARGE_INTESTINE	38834545	38834652	38834606	38834606	Missense_Mutation	A	C	p.K1999T
SNU81_LARGE_INTESTINE	38835838	38835972	38835952	38835952	Missense_Mutation	G	T	p.D2053Y
OUMS23_LARGE_INTESTINE	38843367	38843604	38843423	38843423	Missense_Mutation	T	G	p.C2342W
SNU1214_UPPER_AERODIGESTIVE_TRACT	38843367	38843604	38843529	38843529	Missense_Mutation	G	C	p.E2378Q
HMC18_BREAST	38843367	38843604	38843559	38843559	Missense_Mutation	A	G	p.K2388E
QGP1_PANCREAS	38843367	38843604	38843562	38843562	Missense_Mutation	G	A	p.G2389S
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38843367	38843604	38843580	38843580	Missense_Mutation	T	C	p.Y2395H
CAPAN1_PANCREAS	38851098	38851232	38851227	38851227	Missense_Mutation	T	G	p.F2494V
HS939T_SKIN	38882977	38883153	38883070	38883070	Missense_Mutation	G	A	p.E3136K
KATOIII_STOMACH	38906574	38906764	38906602	38906602	Missense_Mutation	A	G	p.R3732G
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38906574	38906764	38906632	38906632	Missense_Mutation	T	C	p.Y3742H
MET2B	38906574	38906764	38906668	38906668	Missense_Mutation	G	A	p.E3754K
LN18_CENTRAL_NERVOUS_SYSTEM	38906574	38906764	38906704	38906704	Missense_Mutation	T	G	p.L3766V
NCIH1568_LUNG	38917228	38917346	38917250	38917250	Missense_Mutation	G	T	p.W3834L
KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE	38942150	38942305	38942195	38942195	Missense_Mutation	G	A	p.G4025S
C10_LARGE_INTESTINE	38942150	38942305	38942231	38942231	Missense_Mutation	C	A	p.L4037I
SNU489_CENTRAL_NERVOUS_SYSTEM	38942150	38942305	38942263	38942263	Missense_Mutation	G	T	p.K4047N
SNU182_LIVER	38942150	38942305	38942263	38942263	Missense_Mutation	G	T	p.K4047N
SNU407_LARGE_INTESTINE	38942150	38942305	38942263	38942263	Missense_Mutation	G	T	p.K4047N
JHUEM7_ENDOMETRIUM	38942150	38942305	38942270	38942270	Missense_Mutation	C	A	p.L4050I
SNU1040_LARGE_INTESTINE	38942150	38942305	38942276	38942276	Missense_Mutation	A	G	p.T4052A
SW684_SOFT_TISSUE	38979991	38980143	38980014	38980014	Missense_Mutation	G	A	p.M4248I
GI1_CENTRAL_NERVOUS_SYSTEM	38979991	38980143	38980035	38980035	Missense_Mutation	C	A	p.N4255K
C99_LARGE_INTESTINE	38979991	38980143	38980111	38980111	Missense_Mutation	T	A	p.L4281M
NCIH358_LUNG	38835838	38835972	38835889	38835889	Nonsense_Mutation	G	T	p.G2032*
LS411N_LARGE_INTESTINE	38851098	38851232	38851099	38851099	Splice_Site	C	T	p.A2451V
K5_THYROID	38882977	38883153	38882977	38882977	Splice_Site	G	A	p.V3105I

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH8

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 DNAH8

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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH8

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RelatedDrugs for DNAH8

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 DNAH8

Diseases associated with this gene.
(DisGeNet 4.0)

Gene	Disease ID	Disease name	# pubmeds	Source
DNAH8	C0005586	Bipolar Disorder	4	PSYGENET
DNAH8	C0338831	Manic	2	PSYGENET
DNAH8	C0236736	Cocaine-Related Disorders	1	CTD_human
DNAH8	C0236969	Substance-Related Disorders	1	CTD_human
DNAH8	C1456784	Paranoia	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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