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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:CNEP1R1-ANK1 (FusionGDB2 ID:17637)

Fusion Gene Summary for CNEP1R1-ANK1

check button Fusion gene summary
Fusion gene informationFusion gene name: CNEP1R1-ANK1
Fusion gene ID: 17637
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 date2020031320200313
UniProtAcc

Q8N9A8

P16157

Ensembl transtripts involved in fusion geneENST00000427478, ENST00000458059, 
ENST00000562576, ENST00000565556, 
ENST00000567712, 		ENST00000314214, 
ENST00000457297, ENST00000521407, 
ENST00000522231, ENST00000522543, 
ENST00000265709, ENST00000289734, 
ENST00000347528, ENST00000352337, 
ENST00000379758, ENST00000396942, 
ENST00000396945, 
Fusion gene scores* DoF score1 X 1 X 1=115 X 9 X 9=1215
# samples 118
** MAII scorelog2(1/1*10)=3.32192809488736log2(18/1215*10)=-2.75488750216347
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]

Most frequent breakpointCNEP1R1(50060378)-ANK1(41615655), # samples:2
Anticipated loss of major functional domain due to fusion event.CNEP1R1-ANK1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CNEP1R1-ANK1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across CNEP1R1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across ANK1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A086-01ACNEP1R1chr16

50060378

+ANK1chr8

41615655

-


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Fusion Gene ORF analysis for CNEP1R1-ANK1

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-intronENST00000427478ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000427478ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000458059ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000562576ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
5CDS-intronENST00000565556ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000427478ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000458059ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000562576ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
Frame-shiftENST00000565556ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000265709CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000289734CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000347528CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000352337CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000379758CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000396942CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-3CDSENST00000567712ENST00000396945CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000314214CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000457297CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000521407CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000522231CNEP1R1chr16

50060378

+ANK1chr8

41615655

-
intron-intronENST00000567712ENST00000522543CNEP1R1chr16

50060378

+ANK1chr8

41615655

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for CNEP1R1-ANK1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for CNEP1R1-ANK1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:50060378/:41615655)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

Q8N9A8

ANK1

P16157

FUNCTION: Forms with the serine/threonine protein phosphatase CTDNEP1 an active complex which dephosphorylates and may activate LPIN1 and LPIN2. LPIN1 and LPIN2 are phosphatidate phosphatases that catalyze the conversion of phosphatidic acid to diacylglycerol and control the metabolism of fatty acids at different levels. May indirectly modulate the lipid composition of nuclear and/or endoplasmic reticulum membranes and be required for proper nuclear membrane morphology and/or dynamics. May also indirectly regulate the production of lipid droplets and triacylglycerol. {ECO:0000269|PubMed:22134922}.FUNCTION: Attaches integral membrane proteins to cytoskeletal elements; binds to the erythrocyte membrane protein band 4.2, to Na-K ATPase, to the lymphocyte membrane protein GP85, and to the cytoskeletal proteins fodrin, tubulin, vimentin and desmin. Erythrocyte ankyrins also link spectrin (beta chain) to the cytoplasmic domain of the erythrocytes anion exchange protein; they retain most or all of these binding functions. {ECO:0000269|PubMed:12456646}.; FUNCTION: [Isoform Mu17]: Together with obscurin in skeletal muscle may provide a molecular link between the sarcoplasmic reticulum and myofibrils. {ECO:0000269|PubMed:12527750}.

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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Fusion Gene Sequence for CNEP1R1-ANK1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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


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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Related Drugs for CNEP1R1-ANK1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for CNEP1R1-ANK1


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