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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for DNAH17

check button Gene summary
Gene informationGene symbol

DNAH17

Gene ID

8632

Gene namedynein axonemal heavy chain 17
SynonymsDNAHL1|DNEL2
Cytomap

17q25.3

Type of geneprotein-coding
Descriptiondynein heavy chain 17, axonemalaxonemal beta dynein heavy chain 17axonemal dynein heavy chain-like protein 1ciliary dynein heavy chain 17ciliary dynein heavy chain-like protein 1dynein light chain 2, axonemaldynein, axonemal, heavy polypeptide 17
Modification date20180523
UniProtAcc

Q9UFH2

ContextPubMed: DNAH17 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID

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Exon skipping events across known transcript of Ensembl for DNAH17 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for DNAH17

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for DNAH17

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2939681776423008:76423189:76424605:76424788:76425201:7642532176424605:76424788ENSG00000187775.12ENST00000585328.1,ENST00000591369.1,ENST00000590227.1
exon_skip_2939701776430109:76430301:76433722:76433950:76435171:7643529976433722:76433950ENSG00000187775.12ENST00000586052.1,ENST00000585328.1,ENST00000591369.1,ENST00000590227.1
exon_skip_2939721776435171:76435299:76437132:76437281:76440685:7644087976437132:76437281ENSG00000187775.12ENST00000389840.5,ENST00000585328.1,ENST00000591369.1,ENST00000590227.1
exon_skip_2939761776441639:76441762:76445495:76445666:76446335:7644647676445495:76445666ENSG00000187775.12ENST00000586052.1,ENST00000389840.5,ENST00000585328.1,ENST00000591369.1
exon_skip_2939781776447577:76447755:76449424:76449547:76450551:7645078776449424:76449547ENSG00000187775.12ENST00000586052.1,ENST00000389840.5,ENST00000585328.1,ENST00000592152.1,ENST00000591369.1
exon_skip_2939791776475106:76475198:76475566:76475714:76476765:7647686876475566:76475714ENSG00000187775.12ENST00000389840.5,ENST00000585328.1
exon_skip_2939801776486780:76486929:76487524:76487652:76488714:7648884776487524:76487652ENSG00000187775.12ENST00000389840.5,ENST00000585328.1
exon_skip_2939821776490674:76490902:76491040:76491179:76491956:7649211476491040:76491179ENSG00000187775.12ENST00000389840.5,ENST00000585328.1
exon_skip_2939831776497832:76497955:76498672:76498759:76498967:7649909376498672:76498759ENSG00000187775.12ENST00000389840.5
exon_skip_2939841776497832:76497955:76498672:76498780:76498967:7649909376498672:76498780ENSG00000187775.12ENST00000585328.1
exon_skip_2939851776501374:76501527:76502801:76502928:76503359:7650345176502801:76502928ENSG00000187775.12ENST00000587177.1,ENST00000389840.5,ENST00000585328.1
exon_skip_2939861776521090:76521243:76522732:76522819:76522961:7652307876522732:76522819ENSG00000187775.12ENST00000585328.1
exon_skip_2939871776556821:76557017:76557796:76558062:76562695:7656281276557796:76558062ENSG00000187775.12ENST00000589793.1,ENST00000389840.5,ENST00000585328.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for DNAH17

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_2939681776423008:76423189:76424605:76424788:76425201:7642532176424605:76424788ENSG00000187775.12ENST00000591369.1,ENST00000585328.1,ENST00000590227.1
exon_skip_2939701776430109:76430301:76433722:76433950:76435171:7643529976433722:76433950ENSG00000187775.12ENST00000591369.1,ENST00000585328.1,ENST00000590227.1,ENST00000586052.1
exon_skip_2939721776435171:76435299:76437132:76437281:76440685:7644087976437132:76437281ENSG00000187775.12ENST00000591369.1,ENST00000585328.1,ENST00000389840.5,ENST00000590227.1
exon_skip_2939761776441639:76441762:76445495:76445666:76446335:7644647676445495:76445666ENSG00000187775.12ENST00000591369.1,ENST00000585328.1,ENST00000389840.5,ENST00000586052.1
exon_skip_2939781776447577:76447755:76449424:76449547:76450551:7645078776449424:76449547ENSG00000187775.12ENST00000591369.1,ENST00000585328.1,ENST00000389840.5,ENST00000586052.1,ENST00000592152.1
exon_skip_2939791776475106:76475198:76475566:76475714:76476765:7647686876475566:76475714ENSG00000187775.12ENST00000585328.1,ENST00000389840.5
exon_skip_2939801776486780:76486929:76487524:76487652:76488714:7648884776487524:76487652ENSG00000187775.12ENST00000585328.1,ENST00000389840.5
exon_skip_2939821776490674:76490902:76491040:76491179:76491956:7649211476491040:76491179ENSG00000187775.12ENST00000585328.1,ENST00000389840.5
exon_skip_2939851776501374:76501527:76502801:76502928:76503359:7650345176502801:76502928ENSG00000187775.12ENST00000585328.1,ENST00000389840.5,ENST00000587177.1
exon_skip_2939871776556821:76557017:76557796:76558062:76562695:7656281276557796:76558062ENSG00000187775.12ENST00000585328.1,ENST00000389840.5,ENST00000589793.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for DNAH17

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003898407643713276437281Frame-shift
ENST000003898407647556676475714Frame-shift
ENST000003898407648752476487652Frame-shift
ENST000003898407649104076491179Frame-shift
ENST000003898407650280176502928Frame-shift
ENST000003898407655779676558062Frame-shift
ENST000003898407644549576445666In-frame
ENST000003898407644942476449547In-frame
ENST000003898407649867276498759In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003898407643713276437281Frame-shift
ENST000003898407647556676475714Frame-shift
ENST000003898407648752476487652Frame-shift
ENST000003898407649104076491179Frame-shift
ENST000003898407650280176502928Frame-shift
ENST000003898407655779676558062Frame-shift
ENST000003898407644549576445666In-frame
ENST000003898407644942476449547In-frame

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Infer the effects of exon skipping event on protein functional features for DNAH17

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

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000038984013809446276498672764987595196528216901719
ENST000003898401380944627644942476449547104901061234553495
ENST000003898401380944627644549576445666111241129436663723

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003898401380944627644942476449547104901061234553495
ENST000003898401380944627644549576445666111241129436663723

check button 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 featureDescription of feature
Q9UFH2169017198654462Alternative sequenceID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9UFH21690171914462ChainID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal
Q9UFH21690171911808RegionNote=Stem;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UFH21690171917021736RepeatNote=TPR 2
Q9UFH2345534958654462Alternative sequenceID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9UFH23455349514462ChainID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal
Q9UFH23455349534053632RegionNote=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UFH23455349534783478Sequence conflictNote=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UFH2366637238654462Alternative sequenceID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9UFH23666372314462ChainID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal


check button 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 featureDescription of feature
Q9UFH2345534958654462Alternative sequenceID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9UFH23455349514462ChainID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal
Q9UFH23455349534053632RegionNote=AAA 5;Ontology_term=ECO:0000250;evidence=ECO:0000250
Q9UFH23455349534783478Sequence conflictNote=I->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9UFH2366637238654462Alternative sequenceID=VSP_032111;Note=In isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334
Q9UFH23666372314462ChainID=PRO_0000323749;Note=Dynein heavy chain 17%2C axonemal


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SNVs in the skipped exons for DNAH17

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

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_293968
76424606764247887642462576424625Frame_Shift_DelC-p.G4184fs
ACCTCGA-P6-A5OH-01exon_skip_293968
76424606764247887642463576424635Frame_Shift_DelC-p.A4181fs
ACCTCGA-P6-A5OH-01exon_skip_293968
76424606764247887642463576424635Frame_Shift_DelC-p.A4187fs
LIHCTCGA-G3-A3CJ-01exon_skip_293970
76433723764339507643377176433771Frame_Shift_DelG-p.P3989fs
COADTCGA-AD-5900-01exon_skip_293979
76475567764757147647568276475682Frame_Shift_DelG-p.G2596fs
UCECTCGA-AX-A06B-01exon_skip_293979
76475567764757147647571176475711Frame_Shift_DelG-p.H2572fs
LIHCTCGA-G3-A3CJ-01exon_skip_293986
76522733765228197652277676522776Frame_Shift_DelG-p.P1223fs
LIHCTCGA-DD-A3A0-01exon_skip_293987
76557797765580627655795376557953Frame_Shift_DelT-p.K560fs
UCECTCGA-BS-A0UF-01exon_skip_293976
76445496764456667644556276445562Nonsense_MutationGTp.Y3701*
SKCMTCGA-WE-A8ZT-06exon_skip_293978
76449425764495477644951676449516Nonsense_MutationCAp.E3466*
BRCATCGA-C8-A12O-01exon_skip_293980
76487525764876527648763276487632Nonsense_MutationGAp.R2174*
UCECTCGA-AP-A059-01exon_skip_293978
76449425764495477644942476449424Splice_SiteCTe64+1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
GP5D_LARGE_INTESTINE76557797765580627655787976557880Frame_Shift_Ins-Gp.V585fs
SW684_SOFT_TISSUE76424606764247887642464476424644Missense_MutationCTp.D4179N
OMC1_CERVIX76424606764247887642477976424779Missense_MutationCGp.E4134Q
OC316_OVARY76433723764339507643373776433737Missense_MutationCAp.D4002Y
OC314_OVARY76433723764339507643373776433737Missense_MutationCAp.D4002Y
HUCCT1_BILIARY_TRACT76433723764339507643381176433811Missense_MutationCTp.G3977D
NCIH82_LUNG76433723764339507643381276433812Missense_MutationCGp.G3977R
IGR1_SKIN76433723764339507643381876433818Missense_MutationGAp.P3975S
KYM1_SOFT_TISSUE76433723764339507643381976433819Missense_MutationGCp.I3974M
OE33_OESOPHAGUS76433723764339507643383576433835Missense_MutationGAp.P3969L
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76433723764339507643384576433845Missense_MutationCTp.A3966T
SISO_CERVIX76433723764339507643385476433854Missense_MutationCTp.A3963T
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76433723764339507643385476433854Missense_MutationCTp.A3963T
DETROIT562_UPPER_AERODIGESTIVE_TRACT76433723764339507643391176433911Missense_MutationTCp.K3944E
CW2_LARGE_INTESTINE76437133764372817643721176437211Missense_MutationCTp.E3862K
SET2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76437133764372817643721476437214Missense_MutationAGp.Y3861H
M14_SKIN76445496764456667644551976445519Missense_MutationAGp.F3725L
MEWO_SKIN76445496764456667644556876445569Missense_MutationGGAAp.S3708F
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76445496764456667644558276445582Missense_MutationCTp.E3704K
MFE296_ENDOMETRIUM76445496764456667644558776445587Missense_MutationGAp.T3702M
HS940T_FIBROBLAST76445496764456667644559676445596Missense_MutationATp.I3699N
TE8_OESOPHAGUS76445496764456667644564276445642Missense_MutationCGp.A3684P
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76475567764757147647560876475608Missense_MutationGTp.A2615D
SNUC2A_LARGE_INTESTINE76475567764757147647569576475695Missense_MutationGAp.A2586V
SNUC2B_LARGE_INTESTINE76475567764757147647569576475695Missense_MutationGAp.A2586V
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76487525764876527648755376487553Missense_MutationGAp.S2209F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76487525764876527648755376487553Missense_MutationGAp.S2209F
HCC1833_LUNG76487525764876527648755476487554Missense_MutationATp.S2209T
MMACSF_SKIN76487525764876527648756776487568Missense_MutationGGACp.P2204R
RH1_SOFT_TISSUE76487525764876527648759076487590Missense_MutationTCp.I2197V
RVH421_SKIN76491041764911797649116376491163Missense_MutationCTp.V1969I
SW948_LARGE_INTESTINE76498673764987597649875376498753Missense_MutationAGp.W1701R
SW948_LARGE_INTESTINE76498673764987807649875376498753Missense_MutationAGp.W1701R
HEC108_ENDOMETRIUM76498673764987597649875676498756Missense_MutationAGp.W1700R
HEC108_ENDOMETRIUM76498673764987807649875676498756Missense_MutationAGp.W1700R
NUDUL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76502802765029287650282176502821Missense_MutationTAp.N1592I
HCC2814_LUNG76502802765029287650287076502870Missense_MutationGTp.P1576T
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76522733765228197652278276522782Missense_MutationTCp.E1218G
NCIH650_LUNG76522733765228197652278676522786Missense_MutationGTp.R1217S
RERFLCFM_LUNG76522733765228197652280076522800Missense_MutationCGp.R1212T
L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76522733765228197652280976522809Missense_MutationTCp.H1209R
253J_URINARY_TRACT76557797765580627655784176557841Missense_MutationCGp.E597D
253JBV_URINARY_TRACT76557797765580627655784176557841Missense_MutationCGp.E597D
L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76557797765580627655785476557854Missense_MutationATp.L593Q
MEWO_SKIN76557797765580627655794276557942Missense_MutationCTp.D564N
HEC6_ENDOMETRIUM76557797765580627655799976557999Missense_MutationAGp.Y545H
HEC59_ENDOMETRIUM76557797765580627655802976558029Missense_MutationGAp.P535S
COLO792_SKIN76557797765580627655804876558048Missense_MutationACp.C528W
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE76424606764247887642460276424602Nonsense_MutationCAp.G4192*
NCIH2171_LUNG76424606764247887642465976424659Nonsense_MutationGAp.Q4174*
NCIBL2171_MATCHED_NORMAL_TISSUE76424606764247887642465976424659Nonsense_MutationGAp.Q4174*
HS944T_SKIN76437133764372817643728176437281Splice_SiteCTp.K3838K
GP5D_LARGE_INTESTINE76449425764495477644942576449425Splice_SiteTCp.K3505R
CCK81_LARGE_INTESTINE76475567764757147647571376475713Splice_SiteCTp.R2580H

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DNAH17

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH17


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DNAH17


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RelatedDrugs for DNAH17

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DNAH17

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource