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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:ATP8B1-SLC50A1 (FusionGDB2 ID:HG5205TG55974)

Fusion Gene Summary for ATP8B1-SLC50A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8B1-SLC50A1
Fusion gene ID: hg5205tg55974
HgeneTgene
Gene symbol

ATP8B1

SLC50A1

Gene ID

5205

55974

Gene nameATPase phospholipid transporting 8B1solute carrier family 50 member 1
SynonymsATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1HsSWEET1|RAG1AP1|SCP|SWEET1|slv
Cytomap('ATP8B1')('SLC50A1')

18q21.31

1q22

Type of geneprotein-codingprotein-coding
Descriptionphospholipid-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 phosphosugar transporter SWEET1RAG1-activating protein 1RP11-540D14.5RZPDo834D038Dprobable sugar transporter RAG1AP1recombination activating gene 1 activating protein 1solute carrier family 50 (sugar efflux transporter), member 1solute carrier family 50 (
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000283684, ENST00000536015, 
ENST00000589147, 
Fusion gene scores* DoF score11 X 12 X 4=5284 X 4 X 3=48
# samples 124
** MAII scorelog2(12/528*10)=-2.13750352374993
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: ATP8B1 [Title/Abstract] AND SLC50A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP8B1(55362403)-SLC50A1(155108775), # samples:3
Anticipated loss of major functional domain due to fusion event.ATP8B1-SLC50A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP8B1-SLC50A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP8B1-SLC50A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP8B1-SLC50A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ATP8B1-SLC50A1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
ATP8B1-SLC50A1 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
HgeneATP8B1

GO:0006855

drug transmembrane transport

20510206

HgeneATP8B1

GO:0045332

phospholipid translocation

20510206


check buttonFusion gene breakpoints across ATP8B1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across SLC50A1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4KIRCTCGA-AS-3777-01AATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
ChimerDB4LIHCTCGA-DD-A115-01AATP8B1chr18

55362403

-SLC50A1chr1

155108775

+


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Fusion Gene ORF analysis for ATP8B1-SLC50A1

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-3UTRENST00000283684ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
5CDS-3UTRENST00000536015ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000283684ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000283684ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000283684ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000283684ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000536015ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shiftENST00000536015ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
In-frameENST00000536015ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
In-frameENST00000536015ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3UTRENST00000589147ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+

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)
ENST00000536015ATP8B1chr1855362403-ENST00000303343SLC50A1chr1155108775+205510601201085321
ENST00000536015ATP8B1chr1855362403-ENST00000368404SLC50A1chr1155108775+221810601201085321

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
ENST00000536015ENST00000303343ATP8B1chr1855362403-SLC50A1chr1155108775+0.0009505370.9990495
ENST00000536015ENST00000368404ATP8B1chr1855362403-SLC50A1chr1155108775+0.0010789960.99892104

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Fusion Genomic Features for ATP8B1-SLC50A1


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)
ATP8B1chr1855362402-SLC50A1chr1155108774+0.88933120.11066871
ATP8B1chr1855362402-SLC50A1chr1155108774+0.88933120.11066871

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.
genomic feature

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 ATP8B1-SLC50A1


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/chr18:55362403/chr1:155108775)
- 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
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927131_1363131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271_1083131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028131_1363131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281_1083131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927109_1303131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927137_1563131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028109_1303131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028137_1563131252.0TransmembraneHelical
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000030334305127_21226168.0DomainNote=MtN3/slv 2
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684010510_9413167.0DomainNote=MtN3/slv 1
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840105127_21213167.0DomainNote=MtN3/slv 2
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840406127_21226222.0DomainNote=MtN3/slv 2
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000030334305129_14926168.0TransmembraneHelical%3B Name%3D5
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000030334305160_18026168.0TransmembraneHelical%3B Name%3D6
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000030334305186_20626168.0TransmembraneHelical%3B Name%3D7
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003033430542_6226168.0TransmembraneHelical%3B Name%3D2
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003033430568_8826168.0TransmembraneHelical%3B Name%3D3
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003033430596_11626168.0TransmembraneHelical%3B Name%3D4
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840105129_14913167.0TransmembraneHelical%3B Name%3D5
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840105160_18013167.0TransmembraneHelical%3B Name%3D6
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840105186_20613167.0TransmembraneHelical%3B Name%3D7
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684010542_6213167.0TransmembraneHelical%3B Name%3D2
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684010568_8813167.0TransmembraneHelical%3B Name%3D3
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684010596_11613167.0TransmembraneHelical%3B Name%3D4
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840406129_14926222.0TransmembraneHelical%3B Name%3D5
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840406160_18026222.0TransmembraneHelical%3B Name%3D6
TgeneSLC50A1chr18:55362403chr1:155108775ENST0000036840406186_20626222.0TransmembraneHelical%3B Name%3D7
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684040642_6226222.0TransmembraneHelical%3B Name%3D2
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684040668_8826222.0TransmembraneHelical%3B Name%3D3
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684040696_11626222.0TransmembraneHelical%3B Name%3D4

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271003_10323131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271055_10683131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271092_10973131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271119_11383131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271164_12513131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927157_3403131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927363_3893131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927412_9493131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927971_9823131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281003_10323131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281055_10683131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281092_10973131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281119_11383131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281164_12513131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028157_3403131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028363_3893131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028412_9493131252.0Topological domainCytoplasmic
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028971_9823131252.0Topological domainExoplasmic loop
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271033_10543131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271069_10913131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271098_11183131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-9271139_11633131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927341_3623131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927390_4113131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927950_9703131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000283684-927983_10023131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281033_10543131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281069_10913131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281098_11183131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-10281139_11633131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028341_3623131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028390_4113131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028950_9703131252.0TransmembraneHelical
HgeneATP8B1chr18:55362403chr1:155108775ENST00000536015-1028983_10023131252.0TransmembraneHelical
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003033430510_9426168.0DomainNote=MtN3/slv 1
TgeneSLC50A1chr18:55362403chr1:155108775ENST000003684040610_9426222.0DomainNote=MtN3/slv 1
TgeneSLC50A1chr18:55362403chr1:155108775ENST00000303343053_2326168.0TransmembraneHelical%3B Name%3D1
TgeneSLC50A1chr18:55362403chr1:155108775ENST00000368401053_2313167.0TransmembraneHelical%3B Name%3D1
TgeneSLC50A1chr18:55362403chr1:155108775ENST00000368404063_2326222.0TransmembraneHelical%3B Name%3D1


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Fusion Gene Sequence for ATP8B1-SLC50A1


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.
>8257_8257_1_ATP8B1-SLC50A1_ATP8B1_chr18_55362403_ENST00000536015_SLC50A1_chr1_155108775_ENST00000303343_length(transcript)=2055nt_BP=1060nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCT
ATGGGTTTCGACTCAGAGATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGT
ACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAA
AGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGA
CCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGG
AGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGG
GCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATG
ATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGAT
CGTGCCATTGTGATATGAATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGC

>8257_8257_1_ATP8B1-SLC50A1_ATP8B1_chr18_55362403_ENST00000536015_SLC50A1_chr1_155108775_ENST00000303343_length(amino acids)=321AA_BP=
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE

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>8257_8257_2_ATP8B1-SLC50A1_ATP8B1_chr18_55362403_ENST00000536015_SLC50A1_chr1_155108775_ENST00000368404_length(transcript)=2218nt_BP=1060nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGCGTGTTGTGCTCCTACAGACTGCAACCCTGCTAGGGGTCCTTCTCCTGGGTTATGGCTACTTTTGGCTCCTGGTACCCAACCCTGAGG
CCCGGCTTCAGCAGTTGGGCCTCTTCTGCAGTGTCTTCACCATCAGCATGTACCTCTCACCACTGGCTGACTTGGCTAAGGTGATTCAAA
CTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAG
ATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACA
GGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCA
GCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTAC
TTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTT
TAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCA
GGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAAT
CCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGA
ATATGCCTTATATGCTGATATGAATATGCCTTAAAATAAAGTGTTCCCCACCCCTGCC

>8257_8257_2_ATP8B1-SLC50A1_ATP8B1_chr18_55362403_ENST00000536015_SLC50A1_chr1_155108775_ENST00000368404_length(amino acids)=321AA_BP=
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE

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Fusion Gene PPI Analysis for ATP8B1-SLC50A1


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 ATP8B1-SLC50A1


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 ATP8B1-SLC50A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP8B1C4551898Cholestasis, progressive familial intrahepatic 17CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneATP8B1C4551899Cholestasis, benign recurrent intrahepatic 15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneATP8B1C3549845CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 14GENOMICS_ENGLAND;UNIPROT
HgeneATP8B1C0008372Intrahepatic Cholestasis1CTD_human
HgeneATP8B1C0268318Cholestasis of pregnancy1CTD_human;ORPHANET