ExonSkipDB Logo

Home

Download

Statistics

Landscape

Help

Contact

Center for Computational Systems Medicine
leaf

Gene summary

leaf

Gene structures and expression levels

leaf

Exon skipping events with PSIs in TCGA

leaf

Exon skipping events with PSIs in GTEx

leaf

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

leaf

Exon skipping events in the canonical protein sequence

leaf

SNVs in the skipped exons with depth of coverage

leaf

Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

leaf

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

leaf

Related drugs with this gene

leaf

Related diseases with this gene

Gene summary for DOCK8

check button Gene summary
Gene informationGene symbol

DOCK8

Gene ID

81704

Gene namededicator of cytokinesis 8
SynonymsHEL-205|MRD2|ZIR8
Cytomap

9p24.3

Type of geneprotein-coding
Descriptiondedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205
Modification date20180519
UniProtAcc

Q8NF50

ContextPubMed: DOCK8 [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
DOCK8

GO:0043547

positive regulation of GTPase activity

28028151


Top

Exon skipping events across known transcript of Ensembl for DOCK8 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

Top

Gene isoform structures and expression levels for DOCK8

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

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


Top

Exon skipping events with PSIs in TCGA for DOCK8

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4946339214864:215029:220747:220863:271626:271729220747:220863ENSG00000107099.11ENST00000524396.1
exon_skip_4946349214867:215029:271626:271729:286460:286636271626:271729ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000454469.2
exon_skip_4946369215170:215416:271626:271729:286460:286636271626:271729ENSG00000107099.11ENST00000479404.1
exon_skip_4946429273083:273100:280790:280905:286460:286636280790:280905ENSG00000107099.11ENST00000487230.1
exon_skip_4946449289509:289581:304580:304704:311953:312166304580:304704ENSG00000107099.11ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2,ENST00000478380.1
exon_skip_4946469311957:312166:317042:317128:325670:325737317042:317128ENSG00000107099.11ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2
exon_skip_4946479334224:334384:336581:336718:339005:339099336581:336718ENSG00000107099.11ENST00000524396.1,ENST00000382341.1,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000454469.2
exon_skip_4946489340158:340321:365590:366552:368017:368135365590:366552ENSG00000107099.11ENST00000483757.1
exon_skip_4946499368017:368135:369221:369447:370229:370300369221:369447ENSG00000107099.11ENST00000483757.1
exon_skip_4946509370229:370300:371427:371566:372184:372286371427:371566ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000483757.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946529376976:377211:379770:379935:382512:382685379770:379935ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946539382512:382685:386330:386426:390470:390518386330:386426ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946559386330:386426:390470:390566:396784:396934390470:390566ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000382331.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946569399145:399259:404917:405073:406929:407069404917:405073ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946579420400:420583:420948:421078:422047:422135420948:421078ENSG00000107099.11ENST00000493666.2,ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946599428361:428496:429701:429854:432165:432324429701:429854ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946609443426:443516:446369:446606:449783:449927446369:446606ENSG00000107099.11ENST00000432829.2,ENST00000453981.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1

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

Top

Exon skipping events with PSIs in GTEx for DOCK8

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4946349214867:215029:271626:271729:286460:286636271626:271729ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000454469.2
exon_skip_4946369215170:215416:271626:271729:286460:286636271626:271729ENSG00000107099.11ENST00000479404.1
exon_skip_4946429273083:273100:280790:280905:286460:286636280790:280905ENSG00000107099.11ENST00000487230.1
exon_skip_4946439276993:277086:284374:284567:286460:286636284374:284567ENSG00000107099.11ENST00000469197.1
exon_skip_4946449289509:289581:304580:304704:311953:312166304580:304704ENSG00000107099.11ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000478380.1,ENST00000469391.1,ENST00000495184.1
exon_skip_4946469311957:312166:317042:317128:325670:325737317042:317128ENSG00000107099.11ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1
exon_skip_4946479334224:334384:336581:336718:339005:339099336581:336718ENSG00000107099.11ENST00000524396.1,ENST00000453981.1,ENST00000432829.2,ENST00000454469.2,ENST00000382341.1,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1
exon_skip_4946489340158:340321:365590:366552:368017:368135365590:366552ENSG00000107099.11ENST00000483757.1
exon_skip_4946499368017:368135:369221:369447:370229:370300369221:369447ENSG00000107099.11ENST00000483757.1
exon_skip_4946509370229:370300:371427:371566:372184:372286371427:371566ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000483757.1,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946529376976:377211:379770:379935:382512:382685379770:379935ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382331.1,ENST00000382329.1
exon_skip_4946539382512:382685:386330:386426:390470:390518386330:386426ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000495184.1,ENST00000382331.1,ENST00000382329.1
exon_skip_4946569399145:399259:404917:405073:406929:407069404917:405073ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946579420400:420583:420948:421078:422047:422135420948:421078ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1,ENST00000493666.2
exon_skip_4946599428361:428496:429701:429854:432165:432324429701:429854ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1
exon_skip_4946609443426:443516:446369:446606:449783:449927446369:446606ENSG00000107099.11ENST00000453981.1,ENST00000432829.2,ENST00000469391.1,ENST00000495184.1,ENST00000382329.1

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

* Skipped exon sequences.

Top

Open reading frame (ORF) annotation in the exon skipping event for DOCK8

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
ENST000004328292716262717295UTR-5UTR
ENST00000432829304580304704Frame-shift
ENST00000432829317042317128Frame-shift
ENST00000432829336581336718Frame-shift
ENST00000432829371427371566Frame-shift
ENST00000432829420948421078Frame-shift
ENST00000432829379770379935In-frame
ENST00000432829386330386426In-frame
ENST00000432829390470390566In-frame
ENST00000432829404917405073In-frame
ENST00000432829429701429854In-frame
ENST00000432829446369446606In-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
ENST000004328292716262717295UTR-5UTR
ENST00000432829304580304704Frame-shift
ENST00000432829317042317128Frame-shift
ENST00000432829336581336718Frame-shift
ENST00000432829371427371566Frame-shift
ENST00000432829420948421078Frame-shift
ENST00000432829379770379935In-frame
ENST00000432829386330386426In-frame
ENST00000432829404917405073In-frame
ENST00000432829429701429854In-frame
ENST00000432829446369446606In-frame

Top

Infer the effects of exon skipping event on protein functional features for DOCK8

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
ENST000004328297469209937977037993525532717745800
ENST000004328297469209938633038642628912986858890
ENST000004328297469209939047039056629873082890922
ENST00000432829746920994049174050733347350210101062
ENST00000432829746920994297014298544586473814231474
ENST00000432829746920994463694466065693592917921871

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
ENST000004328297469209937977037993525532717745800
ENST000004328297469209938633038642628912986858890
ENST00000432829746920994049174050733347350210101062
ENST00000432829746920994297014298544586473814231474
ENST00000432829746920994463694466065693592917921871

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


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


Top

SNVs in the skipped exons for DOCK8

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-A1EG-01exon_skip_494650
371428371566371453371453Frame_Shift_DelA-p.K564fs
LIHCTCGA-DD-A1EG-01exon_skip_494650
371428371566371464371464Frame_Shift_DelC-p.L567fs
COADTCGA-AZ-4615-01exon_skip_494656
404918405073405015405016Frame_Shift_DelTT-p.1011_1011del
KICHTCGA-KL-8330-01exon_skip_494656
404918405073405015405015Frame_Shift_DelT-p.L1111fs
KICHTCGA-KL-8339-01exon_skip_494656
404918405073405015405015Frame_Shift_DelT-p.L1111fs
UCECTCGA-A5-A0GB-01exon_skip_494656
404918405073405015405015Frame_Shift_DelT-p.L1111fs
UCECTCGA-B5-A0JZ-01exon_skip_494656
404918405073405015405015Frame_Shift_DelT-p.L1111fs
LIHCTCGA-DD-A3A0-01exon_skip_494657
420949421078420977420977Frame_Shift_DelC-p.T1283fs
LIHCTCGA-DD-A1EG-01exon_skip_494657
420949421078421036421036Frame_Shift_DelG-p.G1303fs
BRCATCGA-A8-A06U-01exon_skip_494659
429702429854429793429793Frame_Shift_DelC-p.R1455fs
LUADTCGA-44-6774-01exon_skip_494656
404918405073405014405015Frame_Shift_Ins-Tp.F1043fs
STADTCGA-BR-4361-01exon_skip_494656
404918405073405015405016Frame_Shift_Ins-Tp.L1111fs
HNSCTCGA-CV-7423-01exon_skip_494660
446370446606446516446517Frame_Shift_Ins-CAp.*1842fs
HNSCTCGA-CV-7423-01exon_skip_494660
446370446606446516446517Frame_Shift_Ins-CAp.L1909fs
BLCATCGA-GC-A3WC-01exon_skip_494647
336582336718336580336580Splice_SiteATp.G429_splice

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
HCT116_LARGE_INTESTINE304581304704304612304612Frame_Shift_DelA-p.K147fs
HEC251_ENDOMETRIUM404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
LS411N_LARGE_INTESTINE404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
HCC1937_BREAST404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
JHOM2B_OVARY404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
MDAPCA2B_PROSTATE404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
SUDHL5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE404918405073405014405015Frame_Shift_Ins-Tp.L1111fs
KYSE70_OESOPHAGUS271627271729271668271668Missense_MutationCAp.P32Q
LU165_LUNG304581304704304588304588Missense_MutationGAp.G138R
EVSAT_BREAST317043317128317126317126Missense_MutationGCp.L275F
NCIH889_LUNG336582336718336602336602Missense_MutationCTp.R436W
EN_ENDOMETRIUM336582336718336605336605Missense_MutationAGp.R437G
647V_URINARY_TRACT371428371566371502371502Missense_MutationCTp.T648I
GB1_CENTRAL_NERVOUS_SYSTEM379771379935379800379800Missense_MutationGAp.V824M
SNUC2A_LARGE_INTESTINE379771379935379858379858Missense_MutationGTp.G843V
SNUC2B_LARGE_INTESTINE379771379935379858379858Missense_MutationGTp.G843V
ATN1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE386331386426386339386339Missense_MutationTAp.D929E
CAR1_LARGE_INTESTINE386331386426386357386357Missense_MutationGAp.M935I
NCIH650_LUNG390471390566390561390561Missense_MutationCAp.L989I
KMS12BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE404918405073404943404943Missense_MutationCTp.P1087L
LNCAPCLONEFGC_PROSTATE404918405073404966404966Missense_MutationGAp.E1095K
SNU1040_LARGE_INTESTINE404918405073404995404995Missense_MutationGTp.E1104D
COLO320_LARGE_INTESTINE420949421078420959420959Missense_MutationGTp.S1345I
NCIH630_LARGE_INTESTINE420949421078420974420974Missense_MutationGAp.S1350N
KYSE520_OESOPHAGUS420949421078421033421033Missense_MutationCTp.R1370C
SNU1040_LARGE_INTESTINE420949421078421067421067Missense_MutationGAp.R1381H
JHUEM7_ENDOMETRIUM429702429854429796429796Missense_MutationGAp.R1523Q
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE429702429854429829429829Missense_MutationTCp.M1534T
COLO205_LARGE_INTESTINE429702429854429842429842Missense_MutationTGp.F1538L
HEC251_ENDOMETRIUM446370446606446444446444Missense_MutationGTp.E1885D
CW2_LARGE_INTESTINE446370446606446499446499Missense_MutationCTp.R1904W
FTC238_THYROID404918405073404966404966Nonsense_MutationGTp.E1095*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for DOCK8

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4946499368017:368135:369221:369447:370229:370300369221:369447ENST00000483757.1LAMLrs750871chr9:369323A/G1.63e-04
exon_skip_4946369215170:215416:271626:271729:286460:286636271626:271729ENST00000479404.1BRCArs506121chr9:271638A/G1.46e-04
exon_skip_4946349214867:215029:271626:271729:286460:286636271626:271729ENST00000432829.2,ENST00000453981.1,ENST00000454469.2BRCArs506121chr9:271638A/G1.46e-04

Top

Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK8


Top

Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for DOCK8


Top

RelatedDrugs for DOCK8

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

Top

RelatedDiseases for DOCK8

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
DOCK8C0008073Developmental Disabilities1CTD_human
DOCK8C0027819Neuroblastoma1CTD_human
DOCK8C1968689Hyper-Immunoglobulin E Syndrome, Autosomal Recessive1ORPHANET;UNIPROT
DOCK8C3714756Intellectual Disability1CTD_human