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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: 5849

FusionGeneSummary for CCDC3_FXYD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC3_FXYD1
Fusion gene ID: 5849
HgeneTgene
Gene symbol

CCDC3

FXYD1

Gene ID

83643

5348

Gene namecoiled-coil domain containing 3FXYD domain containing ion transport regulator 1
Synonyms-PLM
Cytomap

10p13

19q13.12

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 3fat/vessel-derived secretory proteinfavinephospholemmansodium/potassium-transporting ATPase subunit FXYD1
Modification date2018032920180523
UniProtAcc

Q9BQI4

O00168

Ensembl transtripts involved in fusion geneENST00000378825, ENST00000378839, 
ENST00000351325, ENST00000589209, 
ENST00000455515, ENST00000588715, 
ENST00000588607, ENST00000588081, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 1 X 3=12
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/12*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCDC3 [Title/Abstract] AND FXYD1 [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
TCGARVPRADTCGA-V1-A9O5-06ACCDC3chr10

13040338

-FXYD1chr19

35630980

+
* 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
5CDS-5UTRENST00000378825ENST00000351325CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378825ENST00000589209CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378825ENST00000455515CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378825ENST00000588715CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378825ENST00000588607CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378825ENST00000588081CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000351325CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000589209CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000455515CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000588715CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000588607CCDC3chr10

13040338

-FXYD1chr19

35630980

+
5CDS-5UTRENST00000378839ENST00000588081CCDC3chr10

13040338

-FXYD1chr19

35630980

+

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FusionProtFeatures for CCDC3_FXYD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC3

Q9BQI4

FXYD1

O00168

Negatively regulates TNF-alpha-induced pro-inflammatoryresponse in endothelial cells (ECs) via inhibition of TNF-alpha-induced NF-kappaB activation in ECs (PubMed:25193116). Positivelyregulates lipid accumulation in adipose cells (By similarity).{ECO:0000250|UniProtKB:Q9D6Y1, ECO:0000269|PubMed:25193116}. Associates with and regulates the activity of thesodium/potassium-transporting ATPase (NKA) which transports Na(+)out of the cell and K(+) into the cell. Inhibits NKA activity inits unphosphorylated state and stimulates activity whenphosphorylated. Reduces glutathionylation of the NKA beta-1subunit ATP1B1, thus reversing glutathionylation-mediatedinhibition of ATP1B1. Contributes to female sexual development bymaintaining the excitability of neurons which secretegonadotropin-releasing hormone. {ECO:0000250|UniProtKB:O08589,ECO:0000250|UniProtKB:P56513, ECO:0000250|UniProtKB:Q9Z239}.

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 CCDC3_FXYD1


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 CCDC3_FXYD1


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
CCDC3FXYD1YWHAQ, ATP1B1, ATP1A1, PTTG1, NDRG1, NDRG3, NDRG4, THNSL1, GCHFR, ATP6V1D, GOPC, FAM204A, PRTFDC1, POLE4


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 CCDC3_FXYD1


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 CCDC3_FXYD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFXYD1C0036341Schizophrenia1PSYGENET