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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 10389

FusionGeneSummary for DOCK2_KCTD7

check button Fusion gene summary
Fusion gene informationFusion gene name: DOCK2_KCTD7
Fusion gene ID: 10389
HgeneTgene
Gene symbol

DOCK2

KCTD7

Gene ID

1794

154881

Gene namededicator of cytokinesis 2potassium channel tetramerization domain containing 7
SynonymsIMD40CLN14|EPM3
Cytomap

5q35.1

7q11.21

Type of geneprotein-codingprotein-coding
Descriptiondedicator of cytokinesis protein 2dedicator of cyto-kinesis 2BTB/POZ domain-containing protein KCTD7potassium channel tetramerisation domain containing 7
Modification date2018051920180519
UniProtAcc

Q92608

Q96MP8

Ensembl transtripts involved in fusion geneENST00000256935, ENST00000540750, 
ENST00000520908, ENST00000523351, 
ENST00000275532, ENST00000443322, 
ENST00000510829, ENST00000380828, 
ENST00000451741, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: DOCK2 [Title/Abstract] AND KCTD7 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

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

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1BQ371250DOCK2chr5

169485672

-KCTD7chr7

66105861

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3UTRENST00000256935ENST00000275532DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000256935ENST00000443322DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000256935ENST00000510829DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000256935ENST00000380828DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000256935ENST00000451741DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-3UTRENST00000540750ENST00000275532DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000540750ENST00000443322DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000540750ENST00000510829DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000540750ENST00000380828DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000540750ENST00000451741DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-3UTRENST00000520908ENST00000275532DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000520908ENST00000443322DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000520908ENST00000510829DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000520908ENST00000380828DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000520908ENST00000451741DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-3UTRENST00000523351ENST00000275532DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000523351ENST00000443322DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000523351ENST00000510829DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000523351ENST00000380828DOCK2chr5

169485672

-KCTD7chr7

66105861

+
intron-intronENST00000523351ENST00000451741DOCK2chr5

169485672

-KCTD7chr7

66105861

+

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FusionProtFeatures for DOCK2_KCTD7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DOCK2

Q92608

KCTD7

Q96MP8

Involved in cytoskeletal rearrangements required forlymphocyte migration in response of chemokines. Activates RAC1 andRAC2, but not CDC42, by functioning as a guanine nucleotideexchange factor (GEF), which exchanges bound GDP for free GTP. Mayalso participate in IL2 transcriptional activation via theactivation of RAC2. {ECO:0000269|PubMed:21613211}. May be involved in the control of excitability ofcortical neurons. {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for DOCK2_KCTD7


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for DOCK2_KCTD7


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for DOCK2_KCTD7


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for DOCK2_KCTD7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDOCK2C0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneDOCK2C4225328IMMUNODEFICIENCY 401ORPHANET;UNIPROT
TgeneKCTD7C2673257EPILEPSY, PROGRESSIVE MYOCLONIC 34CTD_human;ORPHANET;UNIPROT