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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: 5740

FusionGeneSummary for CC2D1A_ZSWIM4

check button Fusion gene summary
Fusion gene informationFusion gene name: CC2D1A_ZSWIM4
Fusion gene ID: 5740
HgeneTgene
Gene symbol

CC2D1A

ZSWIM4

Gene ID

54862

65249

Gene namecoiled-coil and C2 domain containing 1Azinc finger SWIM-type containing 4
SynonymsFREUD-1|Freud-1/Aki1|MRT3-
Cytomap

19p13.12

19p13.13-p13.12

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil and C2 domain-containing protein 1AAkt kinase-interacting protein 1FRE under dual repression-binding protein 1five prime repressor element under dual repression-binding protein 1five repressor element under dual repression-binding protein zinc finger SWIM domain-containing protein 4zinc finger, SWIM domain containing 4
Modification date2018052320180523
UniProtAcc

Q6P1N0

Q9H7M6

Ensembl transtripts involved in fusion geneENST00000318003, ENST00000589606, 
ENST00000254323, ENST00000440752, 
Fusion gene scores* DoF score10 X 10 X 7=7003 X 5 X 4=60
# samples 105
** MAII scorelog2(10/700*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CC2D1A [Title/Abstract] AND ZSWIM4 [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
TCGALDOVTCGA-25-1631-01ACC2D1Achr19

14041398

+ZSWIM4chr19

13934160

+
TCGARVPCPGTCGA-PR-A5PH-01ACC2D1Achr19

14038078

+ZSWIM4chr19

13939459

+
TCGARVSTADTCGA-BR-A452-01ACC2D1Achr19

14020771

+ZSWIM4chr19

13930171

+
* 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
3UTR-3CDSENST00000318003ENST00000254323CC2D1Achr19

14041398

+ZSWIM4chr19

13934160

+
3UTR-3CDSENST00000318003ENST00000440752CC2D1Achr19

14041398

+ZSWIM4chr19

13934160

+
3UTR-3CDSENST00000589606ENST00000254323CC2D1Achr19

14041398

+ZSWIM4chr19

13934160

+
3UTR-3CDSENST00000589606ENST00000440752CC2D1Achr19

14041398

+ZSWIM4chr19

13934160

+
In-frameENST00000318003ENST00000254323CC2D1Achr19

14038078

+ZSWIM4chr19

13939459

+
In-frameENST00000318003ENST00000440752CC2D1Achr19

14038078

+ZSWIM4chr19

13939459

+
In-frameENST00000589606ENST00000254323CC2D1Achr19

14038078

+ZSWIM4chr19

13939459

+
In-frameENST00000589606ENST00000440752CC2D1Achr19

14038078

+ZSWIM4chr19

13939459

+
In-frameENST00000318003ENST00000254323CC2D1Achr19

14020771

+ZSWIM4chr19

13930171

+
In-frameENST00000318003ENST00000440752CC2D1Achr19

14020771

+ZSWIM4chr19

13930171

+
In-frameENST00000589606ENST00000254323CC2D1Achr19

14020771

+ZSWIM4chr19

13930171

+
In-frameENST00000589606ENST00000440752CC2D1Achr19

14020771

+ZSWIM4chr19

13930171

+

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FusionProtFeatures for CC2D1A_ZSWIM4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CC2D1A

Q6P1N0

ZSWIM4

Q9H7M6

Transcription factor that binds specifically to the DRE(dual repressor element) and represses HTR1A gene transcription inneuronal cells. The combination of calcium and ATP specificallyinactivates the binding with FRE. May play a role in the alteredregulation of HTR1A associated with anxiety and major depression.Mediates HDAC-independent repression of HTR1A promoter in neuronalcell. Performs essential function in controlling functionalmaturation of synapses (By similarity). Plays distinct rolesdepending on its localization. When cytoplasmic, acts as ascaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1Awhen nuclear. In the centrosome, regulates spindle polelocalization of the cohesin subunit SCC1/RAD21, thereby mediatingcentriole cohesion during mitosis. {ECO:0000250,ECO:0000269|PubMed:20171170}.

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
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000318003+2229346_392772952Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000318003+2229484_517772952Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000589606+2229346_392772951Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000589606+2229484_517772951Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000318003+2229192_345772952Compositional biasNote=Pro-rich
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000589606+2229192_345772951Compositional biasNote=Pro-rich
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000318003+2229642_755772952DomainNote=C2
HgeneCC2D1Achr19:14038078chr19:13939459ENST00000589606+2229642_755772951DomainNote=C2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000318003+229346_39265952Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000318003+229484_51765952Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000589606+229346_39265951Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000589606+229484_51765951Coiled coilOntology_term=ECO:0000255
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000318003+229192_34565952Compositional biasNote=Pro-rich
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000589606+229192_34565951Compositional biasNote=Pro-rich
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000318003+229642_75565952DomainNote=C2
HgeneCC2D1Achr19:14020771chr19:13930171ENST00000589606+229642_75565951DomainNote=C2
TgeneZSWIM4chr19:14020771chr19:13930171ENST00000254323+713139_176524990Zinc fingerSWIM-type
TgeneZSWIM4chr19:14038078chr19:13939459ENST00000254323+1013139_176676990Zinc fingerSWIM-type


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FusionGeneSequence for CC2D1A_ZSWIM4


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 CC2D1A_ZSWIM4


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
CC2D1ANCOA2, CDC37, LRP1, CHMP4A, CHMP4C, TSPAN3, CRYAB, LRWD1, OFD1, PCM1, MKS1, CEP170, CEP104, CEP162, CEP152, FGFR1OP, SPICE1, CEP128, CEP135, CEP44, CEP89, CNTRL, FBF1, NINL, NIN, DCTN1, CEP19, STIL, XPO1, CHMP4B, CDH1, SLC1A1, MRAP2ZSWIM4


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 CC2D1A_ZSWIM4


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 CC2D1A_ZSWIM4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCC2D1AC0041696Unipolar Depression2PSYGENET
HgeneCC2D1AC1269683Major Depressive Disorder2PSYGENET