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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: 34018

FusionGeneSummary for SLC11A2_ATP8B1

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC11A2_ATP8B1
Fusion gene ID: 34018
HgeneTgene
Gene symbol

SLC11A2

ATP8B1

Gene ID

4891

5205

Gene namesolute carrier family 11 member 2ATPase phospholipid transporting 8B1
SynonymsAHMIO1|DCT1|DMT1|NRAMP2ATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1
Cytomap

12q13.12

18q21.31

Type of geneprotein-codingprotein-coding
Descriptionnatural resistance-associated macrophage protein 2DMT-1NRAMP 2divalent cation transporter 1solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2solute carrier family 11 (proton-coupled divalent metal ion transporters), mephospholipid-transporting ATPase ICATPase, aminophospholipid transporter, class I, type 8B, member 1ATPase, class I, type 8B, member 1E1-E2 ATPaseP4-ATPase flippase complex alpha subunit ATP8B1familial intrahepatic cholestasis type 1probable phospho
Modification date2018051920180523
UniProtAcc

P49281

O43520

Ensembl transtripts involved in fusion geneENST00000262051, ENST00000547198, 
ENST00000262052, ENST00000394904, 
ENST00000547688, ENST00000541174, 
ENST00000545993, ENST00000546743, 
ENST00000549193, 
ENST00000536015, 
ENST00000283684, ENST00000589147, 
Fusion gene scores* DoF score3 X 2 X 3=181 X 1 X 1=1
# samples 31
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SLC11A2 [Title/Abstract] AND ATP8B1 [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
HgeneSLC11A2

GO:0006825

copper ion transport

12734107

HgeneSLC11A2

GO:0006828

manganese ion transport

17293870

HgeneSLC11A2

GO:0015684

ferrous iron transport

12734107|17293870

HgeneSLC11A2

GO:0015692

lead ion transport

12127992

HgeneSLC11A2

GO:0070574

cadmium ion transmembrane transport

12662899|25326704

HgeneSLC11A2

GO:1903874

ferrous iron transmembrane transport

17293870

TgeneATP8B1

GO:0006855

drug transmembrane transport

20510206

TgeneATP8B1

GO:0045332

phospholipid translocation

20510206


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
TCGALDLUSCTCGA-77-8007-01ASLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
* 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
5UTR-3CDSENST00000262051ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000262051ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-5UTRENST00000262051ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000547198ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000547198ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-5UTRENST00000547198ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000262052ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000262052ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-5UTRENST00000262052ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000394904ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000394904ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-5UTRENST00000394904ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000547688ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000547688ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-5UTRENST00000547688ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000541174ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000541174ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-5UTRENST00000541174ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000545993ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000545993ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-5UTRENST00000545993ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000546743ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-3CDSENST00000546743ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
5UTR-5UTRENST00000546743ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000549193ENST00000536015SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-3CDSENST00000549193ENST00000283684SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-
intron-5UTRENST00000549193ENST00000589147SLC11A2chr12

51420098

-ATP8B1chr18

55365099

-

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FusionProtFeatures for SLC11A2_ATP8B1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC11A2

P49281

ATP8B1

O43520

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. May play a role in asymmetric distribution ofphospholipids in the canicular membrane. May have a role intransport of bile acids into the canaliculus, uptake of bile acidsfrom intestinal contents into intestinal mucosa or both. Incooperation with ABCB4 may be involved in establishing integrityof the canalicular membrane thus protecting hepatocytes from bilesalts. Together with TMEM30A is involved in uptake of thesynthetic drug alkylphospholipid perifosine. Involved in themicrovillus formation in polarized epithelial cells; the functionseems to be independent from its flippase activity. Required forthe preservation of cochlear hair cells in the inner ear. May actas cardiolipin transporter during inflammatory injury.{ECO:0000269|PubMed:17948906, ECO:0000269|PubMed:20510206,ECO:0000269|PubMed:20512993}.

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 SLC11A2_ATP8B1


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 SLC11A2_ATP8B1


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
SLC11A2NDFIP1, NDFIP2, PARK2, NEDD4, VPS35, KRAS, TCTN3ATP8B1TMEM30A, TMEM30B


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 SLC11A2_ATP8B1


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 SLC11A2_ATP8B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC11A2C3806153ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 13ORPHANET;UNIPROT
HgeneSLC11A2C0018995Hemochromatosis1CTD_human
HgeneSLC11A2C0023903Liver neoplasms1CTD_human
HgeneSLC11A2C0162316Iron deficiency anemia1CTD_human
TgeneATP8B1C0268312Progressive intrahepatic cholestasis (disorder)7CTD_human;ORPHANET;UNIPROT
TgeneATP8B1C3549845CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 13UNIPROT
TgeneATP8B1C0008372Intrahepatic Cholestasis1CTD_human;HPO