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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: 7652

FusionGeneSummary for CNEP1R1_ANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNEP1R1_ANK1
Fusion gene ID: 7652
HgeneTgene
Gene symbol

CNEP1R1

ANK1

Gene ID

255919

286

Gene nameCTD nuclear envelope phosphatase 1 regulatory subunit 1ankyrin 1
SynonymsC16orf69|NEP1-R1|NEP1R1|TMEM188|TMP125ANK|SPH1|SPH2
Cytomap

16q12.1

8p11.21

Type of geneprotein-codingprotein-coding
Descriptionnuclear envelope phosphatase-regulatory subunit 1nuclear envelope phosphatase 1-regulatory subunit 1transmembrane protein 188ankyrin-1ANK-1ankyrin 1, erythrocyticankyrin-Rerythrocyte ankyrin
Modification date2018051920180523
UniProtAcc

Q8N9A8

P16157

Ensembl transtripts involved in fusion geneENST00000458059, ENST00000427478, 
ENST00000562576, ENST00000565556, 
ENST00000567712, 
ENST00000347528, 
ENST00000289734, ENST00000379758, 
ENST00000396942, ENST00000396945, 
ENST00000352337, ENST00000265709, 
ENST00000457297, ENST00000522231, 
ENST00000522543, ENST00000314214, 
ENST00000521407, 
Fusion gene scores* DoF score1 X 1 X 1=19 X 5 X 7=315
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNEP1R1 [Title/Abstract] AND ANK1 [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
HgeneCNEP1R1

GO:0034504

protein localization to nucleus

22134922

HgeneCNEP1R1

GO:0035307

positive regulation of protein dephosphorylation

22134922

TgeneANK1

GO:0006888

ER to Golgi vesicle-mediated transport

18768923


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
TCGALDBRCATCGA-A8-A086-01ACNEP1R1chr16

50060378

+ANK1chr8

41615655

-
* 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-shitENST00000458059ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000458059ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000427478ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000562576ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shitENST00000565556ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-

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FusionProtFeatures for CNEP1R1_ANK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CNEP1R1

Q8N9A8

ANK1

P16157

Forms with the serine/threonine protein phosphataseCTDNEP1 an active complex which dephosphorylates and may activateLPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatasesthat catalyze the conversion of phosphatidic acid todiacylglycerol and control the metabolism of fatty acids atdifferent levels. May indirectly modulate the lipid composition ofnuclear and/or endoplasmic reticulum membranes and be required forproper nuclear membrane morphology and/or dynamics. May alsoindirectly regulate the production of lipid droplets andtriacylglycerol. {ECO:0000269|PubMed:22134922}.

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 CNEP1R1_ANK1


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 CNEP1R1_ANK1


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
CNEP1R1CTDNEP1, ELAVL1, UBE2NANK1RHAG, OBSCN, SPTB, TTN, SLC4A1, SLC4A3, SPTA1, TIAM1, KCTD6, CUL3, SPTBN1, TGFBR1, CD44, HSPB1, RYR1, RAPGEF5, CHL1, FIG4, PIKFYVE, MB, PDS5B, VAC14, NELFB


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 CNEP1R1_ANK1


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 CNEP1R1_ANK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneANK1C2674218SPHEROCYTOSIS, TYPE 1 (disorder)2CTD_human;UNIPROT
TgeneANK1C0005941Bone Diseases, Developmental1CTD_human