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Fusion gene ID: 3506 |
FusionGeneSummary for ATP8B1_SLC50A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP8B1_SLC50A1 | Fusion gene ID: 3506 | Hgene | Tgene | Gene symbol | ATP8B1 | SLC50A1 | Gene ID | 5205 | 55974 |
| Gene name | ATPase phospholipid transporting 8B1 | solute carrier family 50 member 1 | |
| Synonyms | ATPIC|BRIC|FIC1|ICP1|PFIC|PFIC1 | HsSWEET1|RAG1AP1|SCP|SWEET1|slv | |
| Cytomap | 18q21.31 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | phospholipid-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 | sugar 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 date | 20180523 | 20180523 | |
| UniProtAcc | O43520 | Q9BRV3 | |
| Ensembl transtripts involved in fusion gene | ENST00000536015, ENST00000283684, ENST00000589147, | ENST00000484157, ENST00000303343, ENST00000368404, ENST00000368401, ENST00000368405, | |
| Fusion gene scores | * DoF score | 2 X 2 X 3=12 | 3 X 3 X 4=36 |
| # samples | 3 | 4 | |
| ** MAII score | log2(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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | ATP8B1 | GO:0006855 | drug transmembrane transport | 20510206 |
| Hgene | ATP8B1 | GO:0045332 | phospholipid translocation | 20510206 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | KIRC | TCGA-AS-3777-01A | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| TCGA | LD | LIHC | TCGA-DD-A115-01A | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000536015 | ENST00000484157 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| In-frame | ENST00000536015 | ENST00000303343 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| In-frame | ENST00000536015 | ENST00000368404 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| Frame-shift | ENST00000536015 | ENST00000368401 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| 5CDS-3UTR | ENST00000536015 | ENST00000368405 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| Frame-shift | ENST00000283684 | ENST00000484157 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| Frame-shift | ENST00000283684 | ENST00000303343 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| Frame-shift | ENST00000283684 | ENST00000368404 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| Frame-shift | ENST00000283684 | ENST00000368401 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| 5CDS-3UTR | ENST00000283684 | ENST00000368405 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| intron-3CDS | ENST00000589147 | ENST00000484157 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| intron-3CDS | ENST00000589147 | ENST00000303343 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| intron-3CDS | ENST00000589147 | ENST00000368404 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| intron-3CDS | ENST00000589147 | ENST00000368401 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
| intron-3UTR | ENST00000589147 | ENST00000368405 | ATP8B1 | chr18 | 55362403 | - | SLC50A1 | chr1 | 155108775 | + |
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FusionProtFeatures for ATP8B1_SLC50A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP8B1 | SLC50A1 |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ATP8B1_SLC50A1 |
| 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 KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCEXPGVWTTSSSCPFSPRKSTTWAGXVMGLXRETGSSSSST QWVLRFRPCISWHICITALGRLRXFKLNQPNVSPTHSPLLPFSPLPPGASMGFDSEIPISWCPTFQESSPALSASGFSGSTPRSKTGTTG >In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_508aa MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCEXPGVWTTSSSCPFSPRKSTTWAGXVMGLXRETGSSSSST QWVLRFRPCISWHICITALGSVLCSYRLQPCXGSFSWVMATFGSWYPTLRPGFSSWASSAVSSPSACTSHHWLTWLRXFKLNQPNVSPTH >In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000303343_chr1_155108775_+_454aa MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCEXPGVWTTSSSCPFSPRKSTTWAGXVMGLXRETGSSSSST QWVLRFRPCISWHICITALGRLRXFKLNQPNVSPTHSPLLPFSPLPPGASMGFDSEIPISWCPTFQESSPALSASGFSGSTPRSKTGTTG >In-frame_ATP8B1_ENST00000536015_chr18_55362403_-_SLC50A1_ENST00000368404_chr1_155108775_+_508aa MSTERDSETTFDEDSQPNDEVVPYSDDETEDELDDQGSAVEPEQNRVNREAEENREPFRKECTWQVKANDRKYHEQPHFMNTKFLCIKES KYANNAIKTYKYNAFTFIPMNLFEQFKRAANLYFLALLILQAVPQISTLAWYTTLVPLLVVLGVTAIKDLVDDVARHKMDKEINNRTCEV IKDGRFKVAKWKEIQVGDVIRLKKNDFVPADILLLSSSEPNSLCYVETAELDGETNLKFKMSLEITDQYLQREDTLATFDGFIECEEPNN RLDKFTGTLFWRNTSFPLDADKILLRGCVIRNTDFCHGLVIFAARTSGTCEXPGVWTTSSSCPFSPRKSTTWAGXVMGLXRETGSSSSST QWVLRFRPCISWHICITALGSVLCSYRLQPCXGSFSWVMATFGSWYPTLRPGFSSWASSAVSSPSACTSHHWLTWLRXFKLNQPNVSPTH |
| * 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| ATP8B1 | TMEM30A, TMEM30B | SLC50A1 | ELAVL1, CREB3 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ATP8B1_SLC50A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ATP8B1_SLC50A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ATP8B1 | C0268312 | Progressive intrahepatic cholestasis (disorder) | 7 | CTD_human;ORPHANET;UNIPROT |
| Hgene | ATP8B1 | C3549845 | CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1 | 3 | UNIPROT |
| Hgene | ATP8B1 | C0008372 | Intrahepatic Cholestasis | 1 | CTD_human;HPO |
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