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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:ATP7B-KLF5 (FusionGDB2 ID:HG540TG688)

Fusion Gene Summary for ATP7B-KLF5

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP7B-KLF5
Fusion gene ID: hg540tg688
HgeneTgene
Gene symbol

ATP7B

KLF5

Gene ID

540

688

Gene nameATPase copper transporting betaKruppel like factor 5
SynonymsPWD|WC1|WD|WNDBTEB2|CKLF|IKLF
Cytomap('ATP7B')('KLF5')

13q14.3

13q22.1

Type of geneprotein-codingprotein-coding
Descriptioncopper-transporting ATPase 2ATPase, Cu(2+)- transporting, beta polypeptideATPase, Cu++ transporting, beta polypeptideWilson disease-associated proteincopper pump 2copper-transporting protein ATP7BKrueppel-like factor 5(intestinal Kruppel-like factorBTE-binding protein 2GC box binding protein 2Klf5C isoformKruppel-like factor 5 (intestinal)basic transcription element binding protein 2colon krueppel-like factorcolon kruppel-like factorepidi
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000242839, ENST00000344297, 
ENST00000400366, ENST00000400370, 
ENST00000418097, ENST00000448424, 
ENST00000417240, ENST00000482841, 
ENST00000542656, 
Fusion gene scores* DoF score2 X 3 X 2=1210 X 8 X 7=560
# samples 313
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(13/560*10)=-2.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP7B [Title/Abstract] AND KLF5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP7B(52585423)-KLF5(73635999), # samples:2
ATP7B(52585422)-KLF5(73635998), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneATP7B

GO:0006825

copper ion transport

26004889

HgeneATP7B

GO:0015677

copper ion import

16472602

HgeneATP7B

GO:0046688

response to copper ion

15269005|16472602|16939419

HgeneATP7B

GO:0051208

sequestering of calcium ion

16472602

TgeneKLF5

GO:0045944

positive regulation of transcription by RNA polymerase II

16595680

TgeneKLF5

GO:0099156

cell-cell signaling via exosome

28408180

TgeneKLF5

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

28408180



check button Fusion gene information
* 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
ChimerDB4ESCATCGA-LN-A7HX-01AATP7Bchr13

52585423

-KLF5chr13

73635999

+
ChimerDB4ESCATCGA-LN-A7HXATP7Bchr13

52585422

-KLF5chr13

73635998

+
ChimerDB4ESCATCGA-LN-A7HXATP7Bchr13

52585423

-KLF5chr13

73635999

+


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Fusion Gene ORF analysis for ATP7B-KLF5

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-3UTRENST00000242839ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000242839ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-3UTRENST00000344297ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000344297ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-3UTRENST00000400366ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000400366ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-3UTRENST00000400370ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000400370ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-3UTRENST00000418097ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000418097ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-3UTRENST00000448424ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000448424ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000242839ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000242839ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000242839ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000242839ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000344297ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000344297ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000344297ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000344297ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000400366ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400366ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000400366ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400366ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000400370ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400370ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000400370ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400370ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000418097ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000418097ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000418097ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000418097ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000448424ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000448424ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
5CDS-5UTRENST00000448424ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000448424ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-3UTRENST00000417240ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000417240ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-3UTRENST00000482841ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000482841ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-3UTRENST00000542656ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000542656ENST00000477333ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000417240ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000417240ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000417240ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000417240ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000482841ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000482841ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000482841ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000482841ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000542656ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000542656ENST00000377687ATP7Bchr13

52585422

-KLF5chr13

73635998

+
intron-5UTRENST00000542656ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000542656ENST00000539231ATP7Bchr13

52585422

-KLF5chr13

73635998

+

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 ATP7B-KLF5


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)
ATP7Bchr1352585422-KLF5chr1373635998+0.0003306480.9996693
ATP7Bchr1352585422-KLF5chr1373635998+0.0003306480.9996693
ATP7Bchr1352585422-KLF5chr1373635998+0.0003306480.9996693
ATP7Bchr1352585422-KLF5chr1373635998+0.0003306480.9996693


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.
genomic feature of top 1%

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Fusion Protein Features for ATP7B-KLF5


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/:52585423/:73635999)
- 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
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 ATP7B-KLF5


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 ATP7B-KLF5


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 ATP7B-KLF5


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 ATP7B-KLF5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP7BC0019202Hepatolenticular Degeneration136CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP7BC1527352Hepatic Form of Wilson Disease51CTD_human
HgeneATP7BC0235874Disease Exacerbation3CTD_human
HgeneATP7BC0007097Carcinoma2CTD_human
HgeneATP7BC0019158Hepatitis2CTD_human
HgeneATP7BC0205696Anaplastic carcinoma2CTD_human
HgeneATP7BC0205697Carcinoma, Spindle-Cell2CTD_human
HgeneATP7BC0205698Undifferentiated carcinoma2CTD_human
HgeneATP7BC0205699Carcinomatosis2CTD_human
HgeneATP7BC0006142Malignant neoplasm of breast1CTD_human
HgeneATP7BC0009402Colorectal Carcinoma1CTD_human
HgeneATP7BC0009404Colorectal Neoplasms1CTD_human
HgeneATP7BC0015695Fatty Liver1CTD_human
HgeneATP7BC0019207Hepatoma, Morris1CTD_human
HgeneATP7BC0019208Hepatoma, Novikoff1CTD_human
HgeneATP7BC0021368Inflammation1CTD_human
HgeneATP7BC0022665Kidney Neoplasm1CTD_human
HgeneATP7BC0023890Liver Cirrhosis1CTD_human
HgeneATP7BC0023895Liver diseases1CTD_human
HgeneATP7BC0023903Liver neoplasms1CTD_human
HgeneATP7BC0023904Liver Neoplasms, Experimental1CTD_human
HgeneATP7BC0026640Mouth Neoplasms1CTD_human
HgeneATP7BC0033578Prostatic Neoplasms1CTD_human
HgeneATP7BC0041696Unipolar Depression1PSYGENET
HgeneATP7BC0086404Experimental Hepatoma1CTD_human
HgeneATP7BC0086565Liver Dysfunction1CTD_human
HgeneATP7BC0153381Malignant neoplasm of mouth1CTD_human
HgeneATP7BC0162557Liver Failure, Acute1CTD_human
HgeneATP7BC0239946Fibrosis, Liver1CTD_human
HgeneATP7BC0242339Dyslipidemias1CTD_human
HgeneATP7BC0345904Malignant neoplasm of liver1CTD_human
HgeneATP7BC0376358Malignant neoplasm of prostate1CTD_human
HgeneATP7BC0598784Dyslipoproteinemias1CTD_human
HgeneATP7BC0678222Breast Carcinoma1CTD_human
HgeneATP7BC0740457Malignant neoplasm of kidney1CTD_human
HgeneATP7BC0919267ovarian neoplasm1CTD_human
HgeneATP7BC1140680Malignant neoplasm of ovary1CTD_human
HgeneATP7BC1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneATP7BC1257931Mammary Neoplasms, Human1CTD_human
HgeneATP7BC1269683Major Depressive Disorder1PSYGENET
HgeneATP7BC1458155Mammary Neoplasms1CTD_human
HgeneATP7BC2711227Steatohepatitis1CTD_human
HgeneATP7BC4704874Mammary Carcinoma, Human1CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human;UNIPROT
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0024117Chronic Obstructive Airway Disease1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC1527303Chronic Airflow Obstruction1CTD_human
TgeneC2936380Neointima1CTD_human
TgeneC2936381Neointima Formation1CTD_human