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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: 3498

FusionGeneSummary for ATP8A1_LIPC

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8A1_LIPC
Fusion gene ID: 3498
HgeneTgene
Gene symbol

ATP8A1

LIPC

Gene ID

10396

3990

Gene nameATPase phospholipid transporting 8A1lipase C, hepatic type
SynonymsATPASEII|ATPIA|ATPP2HDLCQ12|HL|HTGL|LIPH
Cytomap

4p13

15q21.3

Type of geneprotein-codingprotein-coding
Descriptionphospholipid-transporting ATPase IAATPase IIATPase class I type 8A member 1ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1P4-ATPase flippase complex alpha subunit ATP8A1aminophospholipid translocasechromaffin granule ATPase hepatic triacylglycerol lipaseTriacylglycerol lipasehepatic lipaselipase member Clipase, hepatic
Modification date2018052320180519
UniProtAcc

Q9Y2Q0

P11150

Ensembl transtripts involved in fusion geneENST00000381668, ENST00000264449, 
ENST00000510289, 
ENST00000356113, 
ENST00000414170, ENST00000299022, 
ENST00000433326, 
Fusion gene scores* DoF score7 X 7 X 5=2454 X 4 X 3=48
# samples 74
** MAII scorelog2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP8A1 [Title/Abstract] AND LIPC [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
TgeneLIPC

GO:0006633

fatty acid biosynthetic process

182536

TgeneLIPC

GO:0019433

triglyceride catabolic process

182536|2839510|8640403

TgeneLIPC

GO:0034372

very-low-density lipoprotein particle remodeling

8640403


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
ChiTaRS3.1T89564ATP8A1chr4

42437489

-LIPCchr15

58856857

+
* 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
intron-intronENST00000381668ENST00000356113ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000381668ENST00000414170ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000381668ENST00000299022ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000381668ENST00000433326ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000264449ENST00000356113ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000264449ENST00000414170ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000264449ENST00000299022ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000264449ENST00000433326ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000510289ENST00000356113ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000510289ENST00000414170ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000510289ENST00000299022ATP8A1chr4

42437489

-LIPCchr15

58856857

+
intron-intronENST00000510289ENST00000433326ATP8A1chr4

42437489

-LIPCchr15

58856857

+

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FusionProtFeatures for ATP8A1_LIPC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP8A1

Q9Y2Q0

LIPC

P11150

Catalytic component of a P4-ATPase flippase complexwhich catalyzes the hydrolysis of ATP coupled to the transport ofaminophospholipids from the outer to the inner leaflet of variousmembranes and ensures the maintenance of asymmetric distributionof phospholipids. Phospholipid translocation seems also to beimplicated in vesicle formation and in uptake of lipid signalingmolecules. In vitro, its ATPase activity is selectively andstereospecifically stimulated by phosphatidylserine (PS). Theflippase complex ATP8A1:TMEM30A seems to play a role in regulationof cell migration probably involving flippase-mediatedtranslocation of phosphatidylethanolamine (PE) at the plasmamembrane. Acts as aminophospholipid translocase at the plasmamembrane in neuronal cells. Hepatic lipase has the capacity to catalyze hydrolysisof phospholipids, mono-, di-, and triglycerides, and acyl-CoAthioesters. It is an important enzyme in HDL metabolism. Hepaticlipase binds heparin.

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 ATP8A1_LIPC


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 ATP8A1_LIPC


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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RelatedDrugs for ATP8A1_LIPC


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 ATP8A1_LIPC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneLIPCC0023772Lipid Metabolism, Inborn Errors3CTD_human
TgeneLIPCC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human
TgeneLIPCC3151466HEPATIC LIPASE DEFICIENCY (disorder)2ORPHANET;UNIPROT
TgeneLIPCC0020445Hypercholesterolemia, Familial1CTD_human
TgeneLIPCC0020452Hyperemia1CTD_human
TgeneLIPCC0020473Hyperlipidemia1CTD_human
TgeneLIPCC0020476Hyperlipoproteinemias1CTD_human
TgeneLIPCC0021655Insulin Resistance1CTD_human