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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:ABCB4-TMEM169 (FusionGDB2 ID:HG5244TG92691)

Fusion Gene Summary for ABCB4-TMEM169

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCB4-TMEM169
Fusion gene ID: hg5244tg92691
HgeneTgene
Gene symbol

ABCB4

TMEM169

Gene ID

5244

92691

Gene nameATP binding cassette subfamily B member 4transmembrane protein 169
SynonymsABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3-
Cytomap('ABCB4')('TMEM169')

7q21.12

2q35

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylcholine translocator ABCB4ATP-binding cassette sub-family B member 4ATP-binding cassette, sub-family B (MDR/TAP), member 4P-glycoprotein 3P-glycoprotein-3/multiple drug resistance-3multidrug resistance protein 3multiple drug resistance 3transmembrane protein 169
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265723, ENST00000358400, 
ENST00000359206, ENST00000453593, 
ENST00000545634, 
Fusion gene scores* DoF score1 X 2 X 1=22 X 3 X 1=6
# samples 12
** MAII scorelog2(1/2*10)=2.32192809488736log2(2/6*10)=1.73696559416621
Context

PubMed: ABCB4 [Title/Abstract] AND TMEM169 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCB4(87076350)-TMEM169(216946870), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneABCB4

GO:0032376

positive regulation of cholesterol transport

17523162

HgeneABCB4

GO:0045332

phospholipid translocation

8898203

HgeneABCB4

GO:0055088

lipid homeostasis

17523162

HgeneABCB4

GO:0061092

positive regulation of phospholipid translocation

17523162

HgeneABCB4

GO:0099040

ceramide translocation

8898203

HgeneABCB4

GO:1903413

cellular response to bile acid

17523162

HgeneABCB4

GO:2001140

positive regulation of phospholipid transport

8898203



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
ChimerDB4LIHCTCGA-BC-A10T-01AABCB4chr7

87076246

-TMEM169chr2

216946795

+
ChimerDB4LIHCTCGA-BC-A10T-01AABCB4chr7

87076350

-TMEM169chr2

216946870

+
ChimerDB4LIHCTCGA-BC-A10T-01AABCB4chr7

87076350

-TMEM169chr2

216960561

+


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Fusion Gene ORF analysis for ABCB4-TMEM169

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-5UTRENST00000265723ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000265723ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000265723ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000265723ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000265723ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000265723ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000358400ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000358400ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000358400ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000358400ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000358400ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000358400ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000359206ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000359206ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000359206ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000359206ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000359206ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000359206ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000453593ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000453593ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000453593ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000453593ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000453593ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000453593ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000545634ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000545634ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000545634ENST00000406027ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000545634ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-5UTRENST00000545634ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-5UTRENST00000545634ENST00000454545ABCB4chr7

87076350

-TMEM169chr2

216960561

+
5CDS-intronENST00000265723ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000265723ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000358400ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000358400ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000359206ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000359206ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000453593ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000453593ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000545634ENST00000295658ABCB4chr7

87076350

-TMEM169chr2

216946870

+
5CDS-intronENST00000545634ENST00000437356ABCB4chr7

87076350

-TMEM169chr2

216946870

+
intron-5UTRENST00000265723ENST00000406027ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-5UTRENST00000358400ENST00000406027ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-5UTRENST00000359206ENST00000406027ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-5UTRENST00000453593ENST00000406027ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-5UTRENST00000545634ENST00000406027ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000265723ENST00000295658ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000265723ENST00000437356ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000265723ENST00000454545ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000358400ENST00000295658ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000358400ENST00000437356ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000358400ENST00000454545ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000359206ENST00000295658ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000359206ENST00000437356ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000359206ENST00000454545ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000453593ENST00000295658ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000453593ENST00000437356ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000453593ENST00000454545ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000545634ENST00000295658ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000545634ENST00000437356ABCB4chr7

87076246

-TMEM169chr2

216946795

+
intron-intronENST00000545634ENST00000454545ABCB4chr7

87076246

-TMEM169chr2

216946795

+

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)

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

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Fusion Genomic Features for ABCB4-TMEM169


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)
ABCB4chr787076349-TMEM169chr2216946869+0.99942860.000571386
ABCB4chr787076349-TMEM169chr2216960560+0.99674630.003253674
ABCB4chr787076349-TMEM169chr2216946869+0.99942860.000571386
ABCB4chr787076349-TMEM169chr2216960560+0.99674630.003253674


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 ABCB4-TMEM169


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/:87076350/:216946870)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ABCB4-TMEM169


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.

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Fusion Gene PPI Analysis for ABCB4-TMEM169


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 ABCB4-TMEM169


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 ABCB4-TMEM169


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCB4C1865643Cholestasis, progressive familial intrahepatic 312CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABCB4C2609268Low phospholipid-associated cholelithiasis8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneABCB4C3554241CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 34GENOMICS_ENGLAND;UNIPROT
HgeneABCB4C0008312Primary biliary cirrhosis2CTD_human
HgeneABCB4C0008313Cholangitis, Sclerosing2CTD_human
HgeneABCB4C0023890Liver Cirrhosis2CTD_human
HgeneABCB4C0023892Biliary cirrhosis2CTD_human
HgeneABCB4C0238065Secondary Biliary Cholangitis2CTD_human
HgeneABCB4C0239946Fibrosis, Liver2CTD_human
HgeneABCB4C0566602Primary sclerosing cholangitis2CTD_human
HgeneABCB4C4551595Biliary Cirrhosis, Primary, 12CTD_human
HgeneABCB4C0008311Cholangitis1CTD_human
HgeneABCB4C0009402Colorectal Carcinoma1CTD_human
HgeneABCB4C0009404Colorectal Neoplasms1CTD_human
HgeneABCB4C0021368Inflammation1CTD_human
HgeneABCB4C0022354Jaundice, Obstructive1CTD_human
HgeneABCB4C0023895Liver diseases1CTD_human
HgeneABCB4C0086565Liver Dysfunction1CTD_human
HgeneABCB4C0235874Disease Exacerbation1CTD_human
HgeneABCB4C0268318Cholestasis of pregnancy1CTD_human;ORPHANET
HgeneABCB4C0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneABCB4C0745744End Stage Liver Disease1CTD_human
HgeneABCB4C2239176Liver carcinoma1CTD_human
HgeneABCB4C2936476Chronic Liver Failure1CTD_human
HgeneABCB4C3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneABCB4C4551898Cholestasis, progressive familial intrahepatic 11CTD_human;GENOMICS_ENGLAND
HgeneABCB4C4551899Cholestasis, benign recurrent intrahepatic 11CTD_human