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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: 3506

FusionGeneSummary for ATP8B1_SLC50A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP8B1_SLC50A1
Fusion gene ID: 3506
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

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 date2018052320180523
UniProtAcc

O43520

Q9BRV3

Ensembl transtripts involved in fusion geneENST00000536015, ENST00000283684, 
ENST00000589147, 
ENST00000484157, 
ENST00000303343, ENST00000368404, 
ENST00000368401, ENST00000368405, 
Fusion gene scores* DoF score2 X 2 X 3=123 X 3 X 4=36
# samples 34
** MAII scorelog2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP8B1 [Title/Abstract] AND SLC50A1 [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
HgeneATP8B1

GO:0006855

drug transmembrane transport

20510206

HgeneATP8B1

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
TCGALDKIRCTCGA-AS-3777-01AATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
TCGALDLIHCTCGA-DD-A115-01AATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
* 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
Frame-shitENST00000536015ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
In-frameENST00000536015ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
In-frameENST00000536015ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shitENST00000536015ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
5CDS-3UTRENST00000536015ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shitENST00000283684ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shitENST00000283684ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shitENST00000283684ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
Frame-shitENST00000283684ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
5CDS-3UTRENST00000283684ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000484157ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000303343ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000368404ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3CDSENST00000589147ENST00000368401ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+
intron-3UTRENST00000589147ENST00000368405ATP8B1chr18

55362403

-SLC50A1chr1

155108775

+

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FusionProtFeatures for ATP8B1_SLC50A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP8B1

O43520

SLC50A1

Q9BRV3

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}. Mediates sugar transport across membranes. May stimulateV(D)J recombination by the activation of RAG1.{ECO:0000269|PubMed:21107422}.

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 ATP8B1_SLC50A1


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.
>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_454aa
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KTANNAIKTYKYNAFTFIPMNLFEQFKRAANLTFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCTVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE_PGVWTTSSSCPFSPRKSTTWAG_VMGL_RETGSSSSST
QWVLRFRPCISWHICITALGRLR_FKLNQPNVSPTHSPLLPFSPLPPGASMGFDSEIPISWCPTFQESSPALSASGFSGSTPRSKTGTTG

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_508aa
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KTANNAIKTYKYNAFTFIPMNLFEQFKRAANLTFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCTVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE_PGVWTTSSSCPFSPRKSTTWAG_VMGL_RETGSSSSST
QWVLRFRPCISWHICITALGSVLCSYRLQPC_GSFSWVMATFGSWYPTLRPGFSSWASSAVSSPSACTSHHWLTWLR_FKLNQPNVSPTH

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_454aa
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KTANNAIKTYKYNAFTFIPMNLFEQFKRAANLTFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCTVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE_PGVWTTSSSCPFSPRKSTTWAG_VMGL_RETGSSSSST
QWVLRFRPCISWHICITALGRLR_FKLNQPNVSPTHSPLLPFSPLPPGASMGFDSEIPISWCPTFQESSPALSASGFSGSTPRSKTGTTG

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_508aa
MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES
KTANNAIKTYKYNAFTFIPMNLFEQFKRAANLTFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV
IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCTVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN
RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCE_PGVWTTSSSCPFSPRKSTTWAG_VMGL_RETGSSSSST
QWVLRFRPCISWHICITALGSVLCSYRLQPC_GSFSWVMATFGSWYPTLRPGFSSWASSAVSSPSACTSHHWLTWLR_FKLNQPNVSPTH


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_1364nt
ATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAAGTGGTTCCCTACAGTGATGATGAAACAGAA
GATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAAGCAGAGGAGAACCGGGAGCCATTCAGAAAA
GAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATGAACACAAAATTCTTGTGTATTAAGGAGAGT
AAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATGAATCTGTTTGAGCAGTTTAAGAGAGCAGCC
AATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCTTGGTACACCACACTAGTGCCCCTGCTTGTG
GTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGATAAGGAAATCAACAATAGGACGTGTGAAGTC
ATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATTCGTCTGAAAAAAAATGATTTTGTTCCAGCT
GACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAACTGGATGGAGAAACCAATTTAAAATTTAAG
ATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGATGGTTTTATTGAATGTGAAGAACCCAATAAC
AGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTGTGTAATT
AGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGCGAATGACCCGGAGTGTGGACAACGTCCAGT
TCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGAAGGGAGACGGGATCCTCATCGTCGTCAACA
CAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGAAGGCTAAGGTGATTCAAACTAAATCAACCC
AATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCA
TGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGC

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_1526nt
ATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAAGTGGTTCCCTACAGTGATGATGAAACAGAA
GATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAAGCAGAGGAGAACCGGGAGCCATTCAGAAAA
GAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATGAACACAAAATTCTTGTGTATTAAGGAGAGT
AAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATGAATCTGTTTGAGCAGTTTAAGAGAGCAGCC
AATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCTTGGTACACCACACTAGTGCCCCTGCTTGTG
GTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGATAAGGAAATCAACAATAGGACGTGTGAAGTC
ATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATTCGTCTGAAAAAAAATGATTTTGTTCCAGCT
GACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAACTGGATGGAGAAACCAATTTAAAATTTAAG
ATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGATGGTTTTATTGAATGTGAAGAACCCAATAAC
AGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTGTGTAATT
AGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGCGAATGACCCGGAGTGTGGACAACGTCCAGT
TCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGAAGGGAGACGGGATCCTCATCGTCGTCAACA
CAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGAAGCGTGTTGTGCTCCTACAGACTGCAACCC
TGCTAGGGGTCCTTCTCCTGGGTTATGGCTACTTTTGGCTCCTGGTACCCAACCCTGAGGCCCGGCTTCAGCAGTTGGGCCTCTTCTGCA
GTGTCTTCACCATCAGCATGTACCTCTCACCACTGGCTGACTTGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCAC
TCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTGTCCAACTTTCCAG

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_1364nt
ATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAAGTGGTTCCCTACAGTGATGATGAAACAGAA
GATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAAGCAGAGGAGAACCGGGAGCCATTCAGAAAA
GAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATGAACACAAAATTCTTGTGTATTAAGGAGAGT
AAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATGAATCTGTTTGAGCAGTTTAAGAGAGCAGCC
AATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCTTGGTACACCACACTAGTGCCCCTGCTTGTG
GTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGATAAGGAAATCAACAATAGGACGTGTGAAGTC
ATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATTCGTCTGAAAAAAAATGATTTTGTTCCAGCT
GACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAACTGGATGGAGAAACCAATTTAAAATTTAAG
ATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGATGGTTTTATTGAATGTGAAGAACCCAATAAC
AGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTGTGTAATT
AGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGCGAATGACCCGGAGTGTGGACAACGTCCAGT
TCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGAAGGGAGACGGGATCCTCATCGTCGTCAACA
CAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGAAGGCTAAGGTGATTCAAACTAAATCAACCC
AATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCA
TGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACAGGAACTACTGGC

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_1526nt
ATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAAGTGGTTCCCTACAGTGATGATGAAACAGAA
GATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAAGCAGAGGAGAACCGGGAGCCATTCAGAAAA
GAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATGAACACAAAATTCTTGTGTATTAAGGAGAGT
AAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATGAATCTGTTTGAGCAGTTTAAGAGAGCAGCC
AATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCTTGGTACACCACACTAGTGCCCCTGCTTGTG
GTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGATAAGGAAATCAACAATAGGACGTGTGAAGTC
ATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATTCGTCTGAAAAAAAATGATTTTGTTCCAGCT
GACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAACTGGATGGAGAAACCAATTTAAAATTTAAG
ATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGATGGTTTTATTGAATGTGAAGAACCCAATAAC
AGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCTGATAAAATTTTGTTACGTGGCTGTGTAATT
AGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGCGAATGACCCGGAGTGTGGACAACGTCCAGT
TCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGAAGGGAGACGGGATCCTCATCGTCGTCAACA
CAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGAAGCGTGTTGTGCTCCTACAGACTGCAACCC
TGCTAGGGGTCCTTCTCCTGGGTTATGGCTACTTTTGGCTCCTGGTACCCAACCCTGAGGCCCGGCTTCAGCAGTTGGGCCTCTTCTGCA
GTGTCTTCACCATCAGCATGTACCTCTCACCACTGGCTGACTTGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCAC
TCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAGATCCCTATATCATGGTGTCCAACTTTCCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_2055nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCT
ATGGGTTTCGACTCAGAGATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGT
ACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAA
AGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGA
CCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGG
AGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGG
GCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATG
ATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGAT

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_2218nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGCGTGTTGTGCTCCTACAGACTGCAACCCTGCTAGGGGTCCTTCTCCTGGGTTATGGCTACTTTTGGCTCCTGGTACCCAACCCTGAGG
CCCGGCTTCAGCAGTTGGGCCTCTTCTGCAGTGTCTTCACCATCAGCATGTACCTCTCACCACTGGCTGACTTGGCTAAGGTGATTCAAA
CTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAG
ATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACA
GGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCA
GCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTAC
TTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTT
TAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCA
GGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAAT
CCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGA

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_2055nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGGCTAAGGTGATTCAAACTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCT
ATGGGTTTCGACTCAGAGATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGT
ACCCCCAGGAGCAAGACAGGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAA
AGAGACCTCCTTGTTTCAGCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGA
CCAAAGAAAAAGCTTTACTTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGG
AGGTTGGGGTGCAATCTTTAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGG
GCGGATCGCCTGAGGTCAGGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATG
ATGGCACATGCCTGTAATCCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGAT

>In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_2218nt
TGGGGCCGGGCGGGCGGCGGCAGCGGCCAGGTGCGCAGCGAGCGCTCCGAGCGGCGCGCACCAGGCGGATGCCCCAGCCGGGGCCCAGCG
AACGCCAGGTAGTTCCAATTTGCCAGCAGAATGAGTACAGAAAGAGACTCAGAAACGACATTTGACGAGGATTCTCAGCCTAATGACGAA
GTGGTTCCCTACAGTGATGATGAAACAGAAGATGAACTTGATGACCAGGGGTCTGCTGTTGAACCAGAACAAAACCGAGTCAACAGGGAA
GCAGAGGAGAACCGGGAGCCATTCAGAAAAGAATGTACATGGCAAGTCAAAGCAAACGATCGCAAGTACCACGAACAACCTCACTTTATG
AACACAAAATTCTTGTGTATTAAGGAGAGTAAATATGCGAATAATGCAATTAAAACATACAAGTACAACGCATTTACCTTTATACCAATG
AATCTGTTTGAGCAGTTTAAGAGAGCAGCCAATTTATATTTCCTGGCTCTTCTTATCTTACAGGCAGTTCCTCAAATCTCTACCCTGGCT
TGGTACACCACACTAGTGCCCCTGCTTGTGGTGCTGGGCGTCACTGCAATCAAAGACCTGGTGGACGATGTGGCTCGCCATAAAATGGAT
AAGGAAATCAACAATAGGACGTGTGAAGTCATTAAGGATGGCAGGTTCAAAGTTGCTAAGTGGAAAGAAATTCAAGTTGGAGACGTCATT
CGTCTGAAAAAAAATGATTTTGTTCCAGCTGACATTCTCCTGCTGTCTAGCTCTGAGCCTAACAGCCTCTGCTATGTGGAAACAGCAGAA
CTGGATGGAGAAACCAATTTAAAATTTAAGATGTCACTTGAAATCACAGACCAGTACCTCCAAAGAGAAGATACATTGGCTACATTTGAT
GGTTTTATTGAATGTGAAGAACCCAATAACAGACTAGATAAGTTTACAGGAACACTATTTTGGAGAAACACAAGTTTTCCTTTGGATGCT
GATAAAATTTTGTTACGTGGCTGTGTAATTAGGAACACCGATTTCTGCCACGGCTTAGTCATTTTTGCAGCTCGGACCTCAGGCACATGC
GAATGACCCGGAGTGTGGACAACGTCCAGTTCCTGCCCTTTCTCACCACGGAAGTCAACAACCTGGGCTGGCTGAGTTATGGGGCTTTGA
AGGGAGACGGGATCCTCATCGTCGTCAACACAGTGGGTGCTGCGCTTCAGACCCTGTATATCTTGGCATATCTGCATTACTGCCCTCGGA
AGCGTGTTGTGCTCCTACAGACTGCAACCCTGCTAGGGGTCCTTCTCCTGGGTTATGGCTACTTTTGGCTCCTGGTACCCAACCCTGAGG
CCCGGCTTCAGCAGTTGGGCCTCTTCTGCAGTGTCTTCACCATCAGCATGTACCTCTCACCACTGGCTGACTTGGCTAAGGTGATTCAAA
CTAAATCAACCCAATGTCTCTCCTACCCACTCACCATTGCTACCCTTCTCACCTCTGCCTCCTGGTGCCTCTATGGGTTTCGACTCAGAG
ATCCCTATATCATGGTGTCCAACTTTCCAGGAATCGTCACCAGCTTTATCCGCTTCTGGCTTTTCTGGAAGTACCCCCAGGAGCAAGACA
GGAACTACTGGCTCCTGCAAACCTGAGGCTGCTCATCTGACCACTGGGCACCTTAGTGCCAACCTGAACCAAAGAGACCTCCTTGTTTCA
GCTGGGCCTGCTGTCCAGCTTCCCAGGTGCAGTGGGTTGTGGGAACAAGAGATGACTTTGAGGATAAAAGGACCAAAGAAAAAGCTTTAC
TTAGATGATTGATTGGGGCCTAGGAGATGAAATCACTTTTTATTTTTTAGAGATTTTTTTTTTTAATTTTGGAGGTTGGGGTGCAATCTT
TAGAATATGCCTTAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCCTGAGGTCA
GGAGTTCAAGACCAACCTGACTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAATTAGCCAGGCATGATGGCACATGCCTGTAAT
CCCAGATACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCATTGTGATATGA


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FusionGenePPI 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
ATP8B1TMEM30A, TMEM30BSLC50A1ELAVL1, CREB3


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 ATP8B1_SLC50A1


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 ATP8B1_SLC50A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP8B1C0268312Progressive intrahepatic cholestasis (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneATP8B1C3549845CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 13UNIPROT
HgeneATP8B1C0008372Intrahepatic Cholestasis1CTD_human;HPO