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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: 3494

FusionGeneSummary for ATP7B_KLF5

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP7B_KLF5
Fusion gene ID: 3494
HgeneTgene
Gene symbol

ATP7B

KLF5

Gene ID

540

688

Gene nameATPase copper transporting betaKruppel like factor 5
SynonymsPWD|WC1|WD|WNDBTEB2|CKLF|IKLF
Cytomap

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 2Krueppel-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 factorintes
Modification date2018052320180527
UniProtAcc

P35670

Q13887

Ensembl transtripts involved in fusion geneENST00000242839, ENST00000400366, 
ENST00000344297, ENST00000400370, 
ENST00000448424, ENST00000418097, 
ENST00000417240, ENST00000482841, 
ENST00000542656, 
ENST00000477333, 
ENST00000539231, ENST00000377687, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 2 X 3=24
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP7B [Title/Abstract] AND KLF5 [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
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 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
TCGALDESCATCGA-LN-A7HX-01AATP7Bchr13

52585423

-KLF5chr13

73635999

+
* 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-3UTRENST00000242839ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000242839ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000242839ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000400366ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400366ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400366ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000344297ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000344297ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000344297ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000400370ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400370ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000400370ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000448424ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000448424ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000448424ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-3UTRENST00000418097ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000418097ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
5CDS-5UTRENST00000418097ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000417240ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000417240ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000417240ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000482841ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000482841ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000482841ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-3UTRENST00000542656ENST00000477333ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000542656ENST00000539231ATP7Bchr13

52585423

-KLF5chr13

73635999

+
intron-5UTRENST00000542656ENST00000377687ATP7Bchr13

52585423

-KLF5chr13

73635999

+

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FusionProtFeatures for ATP7B_KLF5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP7B

P35670

KLF5

Q13887

Copper ion transmembrane transporter involved in theexport of copper out of the cells, such as the efflux of hepaticcopper into the bile. {ECO:0000269|PubMed:18203200,ECO:0000269|PubMed:22240481, ECO:0000269|PubMed:24706876,ECO:0000269|PubMed:26004889}. Transcription factor that binds to GC box promoterelements. Activates the transcription of these genes.

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 ATP7B_KLF5


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 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
ATP7BGLRX, ATOX1, DCTN4, ELAVL1, COMMD1, ZBTB16, HP, CLU, NRG1, DNAJB2, MANSC1, CLEC2D, PCDHGB1, ITM2A, TMEM223, NTRK3, GRPRKLF5SET, EP300, NFKB1, PRKCA, CREBBP, GTF2B, TBP, WWP1, ESR1, HDAC1, FBXW7, GSK3B, HDAC2, RARA, TRIM25, ESR2, SMURF2, WWTR1, ELAVL1, YAP1, SMAD2, RRBP1, SMAD4, SMAD3, ZBTB17, CTNNB1, SREBF1, SUMO1, UBE2I, NCOR2, NCOR1, PPARG, ANP32B, PARP1, TP53, GTF2E2, GTF2F2, ATXN3L, XPO1, ACTR5, RXRA, CEBPB, CEBPG, CSRP3, CEBPA, JUN, BAP1, HCFC1, OGT, ACTA2


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 ATP7B_KLF5


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 ATP7B_KLF5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP7BC0019202Hepatolenticular Degeneration96CTD_human;ORPHANET;UNIPROT
HgeneATP7BC0019158Hepatitis2CTD_human
HgeneATP7BC0009404Colorectal Neoplasms1CTD_human
HgeneATP7BC0015695Fatty Liver1CTD_human
HgeneATP7BC0021368Inflammation1CTD_human
HgeneATP7BC0022665Kidney Neoplasm1CTD_human
HgeneATP7BC0023890Liver Cirrhosis1CTD_human;HPO
HgeneATP7BC0023895Liver diseases1CTD_human
HgeneATP7BC0023903Liver neoplasms1CTD_human
HgeneATP7BC0023904Liver Neoplasms, Experimental1CTD_human
HgeneATP7BC0026640Mouth Neoplasms1CTD_human
HgeneATP7BC0033578Prostatic Neoplasms1CTD_human
HgeneATP7BC0041696Unipolar Depression1PSYGENET
HgeneATP7BC0162557Liver Failure, Acute1CTD_human;HPO
HgeneATP7BC0242339Dyslipidemias1CTD_human
HgeneATP7BC0919267ovarian neoplasm1CTD_human
HgeneATP7BC1168401Squamous cell carcinoma of the head and neck1CTD_human
HgeneATP7BC1269683Major Depressive Disorder1PSYGENET
HgeneATP7BC1458155Mammary Neoplasms1CTD_human
TgeneKLF5C0007137Squamous cell carcinoma1CTD_human
TgeneKLF5C0030297Pancreatic Neoplasm1CTD_human
TgeneKLF5C0036341Schizophrenia1PSYGENET
TgeneKLF5C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneKLF5C2936380Neointima1CTD_human