FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3376

FusionGeneSummary for ATP2C2_ZNF423

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2C2_ZNF423
Fusion gene ID: 3376
HgeneTgene
Gene symbol

ATP2C2

ZNF423

Gene ID

9914

23090

Gene nameATPase secretory pathway Ca2+ transporting 2zinc finger protein 423
SynonymsSPCA2Ebfaz|JBTS19|NPHP14|OAZ|Roaz|ZFP423|Zfp104|hOAZ
Cytomap

16q24.1

16q12.1

Type of geneprotein-codingprotein-coding
Descriptioncalcium-transporting ATPase type 2C member 2ATPase 2C2ATPase, Ca++ transporting, type 2C, member 2secretory pathway Ca(2+)-ATPase 2secretory pathway calcium ATPase 2zinc finger protein 423OLF-1/EBF associated zinc fingerSmad- and Olf-interacting zinc finger proteinearly B-cell factor associated zinc finger proteinolf1/EBF-associated zinc finger protein
Modification date2018052320180523
UniProtAcc

O75185

Q2M1K9

Ensembl transtripts involved in fusion geneENST00000262429, ENST00000416219, 
ENST00000420010, 
ENST00000561648, 
ENST00000563137, ENST00000562871, 
ENST00000262383, ENST00000535559, 
ENST00000567169, ENST00000562520, 
Fusion gene scores* DoF score4 X 5 X 3=606 X 4 X 5=120
# samples 66
** MAII scorelog2(6/60*10)=0log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2C2 [Title/Abstract] AND ZNF423 [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
TgeneZNF423

GO:0045892

negative regulation of transcription, DNA-templated

10660046

TgeneZNF423

GO:0045893

positive regulation of transcription, DNA-templated

10660046


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
TCGARVLGGTCGA-E1-A7Z2-01AATP2C2chr16

84402320

+ZNF423chr16

49823457

-
* 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
Frame-shitENST00000262429ENST00000561648ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-5UTRENST00000262429ENST00000563137ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000262429ENST00000562871ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000262429ENST00000262383ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000262429ENST00000535559ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000262429ENST00000567169ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-5UTRENST00000262429ENST00000562520ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
Frame-shitENST00000416219ENST00000561648ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-5UTRENST00000416219ENST00000563137ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000416219ENST00000562871ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000416219ENST00000262383ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000416219ENST00000535559ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-intronENST00000416219ENST00000567169ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
5CDS-5UTRENST00000416219ENST00000562520ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-3CDSENST00000420010ENST00000561648ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-5UTRENST00000420010ENST00000563137ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-intronENST00000420010ENST00000562871ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-intronENST00000420010ENST00000262383ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-intronENST00000420010ENST00000535559ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-intronENST00000420010ENST00000567169ATP2C2chr16

84402320

+ZNF423chr16

49823457

-
intron-5UTRENST00000420010ENST00000562520ATP2C2chr16

84402320

+ZNF423chr16

49823457

-

Top

FusionProtFeatures for ATP2C2_ZNF423


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2C2

O75185

ZNF423

Q2M1K9

This magnesium-dependent enzyme catalyzes the hydrolysisof ATP coupled with the transport of calcium. {ECO:0000250}. Transcription factor that can both act as an activatoror a repressor depending on the context. Plays a central role inBMP signaling and olfactory neurogenesis. Associates with SMADs inresponse to BMP2 leading to activate transcription of BMP targetgenes. Acts as a transcriptional repressor via its interactionwith EBF1, a transcription factor involved in terminal olfactoryreceptor neurons differentiation; this interaction preventing EBF1to bind DNA and activate olfactory-specific genes. Involved inolfactory neurogenesis by participating in a developmental switchthat regulates the transition from differentiation to maturationin olfactory receptor neurons. Controls proliferation anddifferentiation of neural precursors in cerebellar vermisformation. {ECO:0000269|PubMed:10660046}.

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


Top

FusionGeneSequence for ATP2C2_ZNF423


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).

Top

FusionGenePPI for ATP2C2_ZNF423


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
ATP2C2ZNF423PARP1, SMAD4, SMAD1, EBF1, EBF2, EBF3, USP7, CEP290, LYN, BRCA1, MTA1, ZNF219, RBBP7, MBD3L1, ZG16B


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


Top

RelatedDrugs for ATP2C2_ZNF423


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

Top

RelatedDiseases for ATP2C2_ZNF423


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneZNF423C0236733Amphetamine-Related Disorders1CTD_human
TgeneZNF423C3539071NEPHRONOPHTHISIS 141UNIPROT