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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:CARKD-ABCC4 (FusionGDB2 ID:HG55739TG10257)

Fusion Gene Summary for CARKD-ABCC4

check button Fusion gene summary
Fusion gene informationFusion gene name: CARKD-ABCC4
Fusion gene ID: hg55739tg10257
HgeneTgene
Gene symbol

CARKD

ABCC4

Gene ID

55739

10257

Gene nameNAD(P)HX dehydrataseATP binding cassette subfamily C member 4
SynonymsCARKD|LP3298|PEBEL2MOAT-B|MOATB|MRP4
Cytomap('CARKD')('ABCC4')

13q34

13q32.1

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent (S)-NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)H-hydrate dehydrataseATP-dependent NAD(P)HX dehydratasecarbohydrate kinase domain containingcarbohydrate kinase domain-containing proteinmultidrug resistance-associated protein 4MRP/cMOAT-related ABC transporterbA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)canalicular multispecific organic anion transporter (ABC superfamily)multi-specific organic anion transporter
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000470164, ENST00000397191, 
ENST00000424185, ENST00000458711, 
ENST00000309957, 
Fusion gene scores* DoF score4 X 1 X 2=820 X 18 X 5=1800
# samples 421
** MAII scorelog2(4/8*10)=2.32192809488736log2(21/1800*10)=-3.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CARKD [Title/Abstract] AND ABCC4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCARKD(111267994)-ABCC4(95768255), # samples:1
Anticipated loss of major functional domain due to fusion event.CARKD-ABCC4 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.
CARKD-ABCC4 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.
CARKD-ABCC4 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.
CARKD-ABCC4 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.
CARKD-ABCC4 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
TgeneABCC4

GO:0032310

prostaglandin secretion

25173977


check buttonFusion gene breakpoints across CARKD (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 ABCC4 (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
ChimerDB4STADTCGA-CD-8525-01ACARKDchr13

111267994

+ABCC4chr13

95768255

-


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Fusion Gene ORF analysis for CARKD-ABCC4

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
3UTR-3CDSENST00000470164ENST00000376887CARKDchr13

111267994

+ABCC4chr13

95768255

-
3UTR-3CDSENST00000470164ENST00000412704CARKDchr13

111267994

+ABCC4chr13

95768255

-
3UTR-3CDSENST00000470164ENST00000431522CARKDchr13

111267994

+ABCC4chr13

95768255

-
3UTR-3CDSENST00000470164ENST00000536256CARKDchr13

111267994

+ABCC4chr13

95768255

-
3UTR-intronENST00000470164ENST00000474158CARKDchr13

111267994

+ABCC4chr13

95768255

-
3UTR-intronENST00000470164ENST00000538287CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000397191ENST00000474158CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000397191ENST00000538287CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000424185ENST00000474158CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000424185ENST00000538287CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000458711ENST00000474158CARKDchr13

111267994

+ABCC4chr13

95768255

-
5CDS-intronENST00000458711ENST00000538287CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000424185ENST00000376887CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000424185ENST00000412704CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000424185ENST00000431522CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000424185ENST00000536256CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000458711ENST00000376887CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000458711ENST00000412704CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000458711ENST00000431522CARKDchr13

111267994

+ABCC4chr13

95768255

-
Frame-shiftENST00000458711ENST00000536256CARKDchr13

111267994

+ABCC4chr13

95768255

-
In-frameENST00000397191ENST00000376887CARKDchr13

111267994

+ABCC4chr13

95768255

-
In-frameENST00000397191ENST00000412704CARKDchr13

111267994

+ABCC4chr13

95768255

-
In-frameENST00000397191ENST00000431522CARKDchr13

111267994

+ABCC4chr13

95768255

-
In-frameENST00000397191ENST00000536256CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-3CDSENST00000309957ENST00000376887CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-3CDSENST00000309957ENST00000412704CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-3CDSENST00000309957ENST00000431522CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-3CDSENST00000309957ENST00000536256CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-intronENST00000309957ENST00000474158CARKDchr13

111267994

+ABCC4chr13

95768255

-
intron-intronENST00000309957ENST00000538287CARKDchr13

111267994

+ABCC4chr13

95768255

-

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)
ENST00000397191CARKDchr13111267994+ENST00000412704ABCC4chr1395768255-333364181586522
ENST00000397191CARKDchr13111267994+ENST00000376887ABCC4chr1395768255-333164181586522
ENST00000397191CARKDchr13111267994+ENST00000536256ABCC4chr1395768255-5556414634967
ENST00000397191CARKDchr13111267994+ENST00000431522ABCC4chr1395768255-5536414634967

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
ENST00000397191ENST00000412704CARKDchr13111267994+ABCC4chr1395768255-0.0002710910.99972886
ENST00000397191ENST00000376887CARKDchr13111267994+ABCC4chr1395768255-0.0002669680.99973303
ENST00000397191ENST00000536256CARKDchr13111267994+ABCC4chr1395768255-0.616327640.38367236
ENST00000397191ENST00000431522CARKDchr13111267994+ABCC4chr1395768255-0.63400310.36599684

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Fusion Genomic Features for CARKD-ABCC4


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)

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

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Fusion Protein Features for CARKD-ABCC4


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/chr13:111267994/chr13:95768255)
- 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
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311041_12748181326.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301041_12747711279.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211041_1274818860.0DomainABC transporter 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311322_13258181326.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301322_13257711279.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211322_1325818860.0MotifNote=PDZ-binding
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311075_10828181326.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301075_10827711279.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211075_1082818860.0Nucleotide bindingATP 2
TgeneABCC4chr13:111267994chr13:95768255ENST0000037688718311038_10588181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831836_8568181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831858_8788181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831954_9748181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831977_9978181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST0000041270417301038_10587711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730771_7917711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730836_8567711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730858_8787711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730954_9747711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730977_9977711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST0000043152218211038_1058818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821836_856818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821858_878818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821954_974818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821977_997818860.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+11053_3440391.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+1753_34418238.0DomainYjeF C-terminal
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110246_2500391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110265_2740391.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17246_25018238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17265_27418238.0Nucleotide bindingATP
HgeneCARKDchr13:111267994chr13:95768255ENST00000309957+110206_2120391.0RegionNAD(P)HX
HgeneCARKDchr13:111267994chr13:95768255ENST00000424185+17206_21218238.0RegionNAD(P)HX
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831410_6338181326.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831714_10058181326.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000376887183192_3778181326.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730410_6337711279.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730714_10057711279.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000412704173092_3777711279.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821410_633818860.0DomainABC transporter 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821714_1005818860.0DomainABC transmembrane type-1 2
TgeneABCC4chr13:111267994chr13:95768255ENST00000431522182192_377818860.0DomainABC transmembrane type-1 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831445_4528181326.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730445_4527711279.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821445_452818860.0Nucleotide bindingATP 1
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831136_1568181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831207_2278181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831228_2488181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831328_3488181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831351_3718181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831440_4608181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831710_7308181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000003768871831771_7918181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000376887183193_1138181326.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730136_1567711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730207_2277711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730228_2487711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730328_3487711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730351_3717711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730440_4607711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004127041730710_7307711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000412704173093_1137711279.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821136_156818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821207_227818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821228_248818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821328_348818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821351_371818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821440_460818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821710_730818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST000004315221821771_791818860.0TransmembraneHelical
TgeneABCC4chr13:111267994chr13:95768255ENST00000431522182193_113818860.0TransmembraneHelical


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Fusion Gene Sequence for CARKD-ABCC4


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.
>13048_13048_1_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000376887_length(transcript)=3331nt_BP=64nt
AATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGAAGAATTTTAAATCGTTTCTCCAAA
GACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCT
GTGGCCGTGATTCCTTGGATCGCAATACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGA
GATGTGAAGCGCCTGGAATCTACAACTCGGAGTCCAGTGTTTTCCCACTTATCATCTTCTCTCCAGGGGCTCTGGACCATCCGGGCATAC
AAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGG
TTTGCCGTCCGTCTGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGG
CAGGTTGGTTTGGCACTGTCCTATGCCCTCACGCTCATGGGGATGTTTCAGTGGTGTGTTCGACAAAGTGCTGAAGTTGAGAATATGATG
ATCTCAGTAGAAAGGGTCATTGAATACACAGACCTTGAAAAAGAAGCACCTTGGGAATATCAGAAACGCCCACCACCAGCCTGGCCCCAT
GAAGGAGTGATAATCTTTGACAATGTGAACTTCATGTACAGTCCAGGTGGGCCTCTGGTACTGAAGCATCTGACAGCACTCATTAAATCA
CAAGAAAAGGTTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAA
ATTTGGATTGATAAGATCTTGACAACTGAAATTGGACTTCACGATTTAAGGAAGAAGATGTCAATCATACCTCAGGAACCTGTTTTGTTC
ACTGGAACAATGAGGAAAAACCTGGATCCCTTTAATGAGCACACGGATGAGGAACTGTGGAATGCCTTACAAGAGGTACAACTTAAAGAA
ACCATTGAAGATCTTCCTGGTAAAATGGATACTGAATTAGCAGAATCAGGATCCAATTTTAGTGTTGGACAAAGACAACTGGTGTGCCTT
GCCAGGGCAATTCTCAGGAAAAATCAGATATTGATTATTGATGAAGCGACGGCAAATGTGGATCCAAGAACTGATGAGTTAATACAAAAA
AAAATCCGGGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACAGATTGAACACCATTATTGACAGCGACAAGATAATGGTTTTA
GATTCAGGAAGACTGAAAGAATATGATGAGCCGTATGTTTTGCTGCAAAATAAAGAGAGCCTATTTTACAAGATGGTGCAACAACTGGGC
AAGGCAGAAGCCGCTGCCCTCACTGAAACAGCAAAACAGGTATACTTCAAAAGAAATTATCCACATATTGGTCACACTGACCACATGGTT
ACAAACACTTCCAATGGACAGCCCTCGACCTTAACTATTTTCGAGACAGCACTGTGAATCCAACCAAAATGTCAAGTCCGTTCCGAAGGC
ATTTTCCACTAGTTTTTGGACTATGTAAACCACATTGTACTTTTTTTTACTTTGGCAACAAATATTTATACATACAAGATGCTAGTTCAT
TTGAATATTTCTCCCAACTTATCCAAGGATCTCCAGCTCTAACAAAATGGTTTATTTTTATTTAAATGTCAATAGTTGTTTTTTAAAATC
CAAATCAGAGGTGCAGGCCACCAGTTAAATGCCGTCTATCAGGTTTTGTGCCTTAAGAGACTACAGAGTCAAAGCTCATTTTTAAAGGAG
TAGGACAAAGTTGTCACAGGTTTTTGTTGTTGTTTTTATTGCCCCCAAAATTACATGTTAATTTCCATTTATATCAGGGATTCTATTTAC
TTGAAGACTGTGAAGTTGCCATTTTGTCTCATTGTTTTCTTTGACATAACTAGGATCCATTATTTCCCCTGAAGGCTTCTTGTTAGAAAA
TAGTACAGTTACAACCAATAGGAACAACAAAAAGAAAAAGTTTGTGACATTGTAGTAGGGAGTGTGTACCCCTTACTCCCCATCAAAAAA
AAAAATGGATACATGGTTAAAGGATAGAAGGGCAATATTTTATCATATGTTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAAT
GGAAGCCCTTAAAGGTGCTTTGATACTGAAGGACACAAATGTGACCGTCCATCCTCCTTTAGAGTTGCATGACTTGGACACGGTAACTGT
TGCAGTTTTAGACTCAGCATTGTGACACTTCCCAAGAAGGCCAAACCTCTAACCGACATTCCTGAAATACGTGGCATTATTCTTTTTTGG
ATTTCTCATTTATGGAAGGCTAACCCTCTGTTGACTGTAAGCCTTTTGGTTTGGGCTGTATTGAAATCCTTTCTAAATTGCATGAATAGG
CTCTGCTAACGTGATGAGACAAACTGAAAATTATTGCAAGCATTGACTATAATTATGCAGTACGTTCTCAGGATGCATCCAGGGGTTCAT
TTTCATGAGCCTGTCCAGGTTAGTTTACTCCTGACCACTAATAGCATTGTCATTTGGGCTTTCTGTTGAATGAATCAACAAACCACAATA
CTTCCTGGGACCTTTTGTACTTTATTTGAACTATGAGTCTTTAATTTTTCCTGATGATGGTGGCTGTAATATGTTGAGTTCAGTTTACTA
AAGGTTTTACTATTATGGTTTGAAGTGGAGTCTCATGACCTCTCAGAATAAGGTGTCACCTCCCTGAAATTGCATATATGTATATAGACA
TGCACACGTGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAACAGATGTTTTATT
GAGTGAAGCCTTAAAAAGCACACACCACACACAGCTAACTGCCAAAATACATTGACCGTAGTAGCTGTTCAACTCCTAGTACTTAGAAAT
ACACGTATGGTTAATGTTCAGTCCAACAAACCACACACAGTAAATGTTTATTAATAGTCATGGTTCGTATTTTAGGTGACTGAAATTGCA
TCAGTGATCATAATGAGGTTTGTTAAAACGATAGCTATATTCAAAATGTCTATATGTTTATTTGGACTTTTGAGGTTAAAGACAGTCATA
TAAACGTCCTGTTTCTGTTTTAATGTTATCATAGAATTTTTTAATGAAACTAAATTCAATTGAAATAAATGATAGTTTTCATCTCCATTC

>13048_13048_1_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000376887_length(amino acids)=522AA_BP=15
MALGPRCGAIRACRRGRILNRFSKDIGHLDDLLPLTFLDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLE
STTRSPVFSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFVIIVAFGSLILAKTLDAGQVGLAL
SYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLEKEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGI
VGRTGAGKSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNEHTDEELWNALQEVQLKETIEDLP
GKMDTELAESGSNFSVGQRQLVCLARAILRKNQILIIDEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLK

--------------------------------------------------------------
>13048_13048_2_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000412704_length(transcript)=3333nt_BP=64nt
AATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGAAGAATTTTAAATCGTTTCTCCAAA
GACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGACATTGCTACAAGTGGTTGGTGTGGTCTCTGTGGCT
GTGGCCGTGATTCCTTGGATCGCAATACCCTTGGTTCCCCTTGGAATCATTTTCATTTTTCTTCGGCGATATTTTTTGGAAACGTCAAGA
GATGTGAAGCGCCTGGAATCTACAACTCGGAGTCCAGTGTTTTCCCACTTATCATCTTCTCTCCAGGGGCTCTGGACCATCCGGGCATAC
AAAGCAGAAGAGAGGTGTCAGGAACTGTTTGATGCACACCAGGATTTACATTCAGAGGCTTGGTTCTTGTTTTTGACAACGTCCCGCTGG
TTTGCCGTCCGTCTGGATGCCATCTGTGCCATGTTTGTCATCATCGTTGCCTTTGGGTCCCTGATTCTGGCAAAAACTCTGGATGCCGGG
CAGGTTGGTTTGGCACTGTCCTATGCCCTCACGCTCATGGGGATGTTTCAGTGGTGTGTTCGACAAAGTGCTGAAGTTGAGAATATGATG
ATCTCAGTAGAAAGGGTCATTGAATACACAGACCTTGAAAAAGAAGCACCTTGGGAATATCAGAAACGCCCACCACCAGCCTGGCCCCAT
GAAGGAGTGATAATCTTTGACAATGTGAACTTCATGTACAGTCCAGGTGGGCCTCTGGTACTGAAGCATCTGACAGCACTCATTAAATCA
CAAGAAAAGGTTGGCATTGTGGGAAGAACCGGAGCTGGAAAAAGTTCCCTCATCTCAGCCCTTTTTAGATTGTCAGAACCCGAAGGTAAA
ATTTGGATTGATAAGATCTTGACAACTGAAATTGGACTTCACGATTTAAGGAAGAAGATGTCAATCATACCTCAGGAACCTGTTTTGTTC
ACTGGAACAATGAGGAAAAACCTGGATCCCTTTAATGAGCACACGGATGAGGAACTGTGGAATGCCTTACAAGAGGTACAACTTAAAGAA
ACCATTGAAGATCTTCCTGGTAAAATGGATACTGAATTAGCAGAATCAGGATCCAATTTTAGTGTTGGACAAAGACAACTGGTGTGCCTT
GCCAGGGCAATTCTCAGGAAAAATCAGATATTGATTATTGATGAAGCGACGGCAAATGTGGATCCAAGAACTGATGAGTTAATACAAAAA
AAAATCCGGGAGAAATTTGCCCACTGCACCGTGCTAACCATTGCACACAGATTGAACACCATTATTGACAGCGACAAGATAATGGTTTTA
GATTCAGGAAGACTGAAAGAATATGATGAGCCGTATGTTTTGCTGCAAAATAAAGAGAGCCTATTTTACAAGATGGTGCAACAACTGGGC
AAGGCAGAAGCCGCTGCCCTCACTGAAACAGCAAAACAGGTATACTTCAAAAGAAATTATCCACATATTGGTCACACTGACCACATGGTT
ACAAACACTTCCAATGGACAGCCCTCGACCTTAACTATTTTCGAGACAGCACTGTGAATCCAACCAAAATGTCAAGTCCGTTCCGAAGGC
ATTTTCCACTAGTTTTTGGACTATGTAAACCACATTGTACTTTTTTTTACTTTGGCAACAAATATTTATACATACAAGATGCTAGTTCAT
TTGAATATTTCTCCCAACTTATCCAAGGATCTCCAGCTCTAACAAAATGGTTTATTTTTATTTAAATGTCAATAGTTGTTTTTTAAAATC
CAAATCAGAGGTGCAGGCCACCAGTTAAATGCCGTCTATCAGGTTTTGTGCCTTAAGAGACTACAGAGTCAAAGCTCATTTTTAAAGGAG
TAGGACAAAGTTGTCACAGGTTTTTGTTGTTGTTTTTATTGCCCCCAAAATTACATGTTAATTTCCATTTATATCAGGGATTCTATTTAC
TTGAAGACTGTGAAGTTGCCATTTTGTCTCATTGTTTTCTTTGACATAACTAGGATCCATTATTTCCCCTGAAGGCTTCTTGTTAGAAAA
TAGTACAGTTACAACCAATAGGAACAACAAAAAGAAAAAGTTTGTGACATTGTAGTAGGGAGTGTGTACCCCTTACTCCCCATCAAAAAA
AAAAATGGATACATGGTTAAAGGATAGAAGGGCAATATTTTATCATATGTTCTAAAAGAGAAGGAAGAGAAAATACTACTTTCTCAAAAT
GGAAGCCCTTAAAGGTGCTTTGATACTGAAGGACACAAATGTGACCGTCCATCCTCCTTTAGAGTTGCATGACTTGGACACGGTAACTGT
TGCAGTTTTAGACTCAGCATTGTGACACTTCCCAAGAAGGCCAAACCTCTAACCGACATTCCTGAAATACGTGGCATTATTCTTTTTTGG
ATTTCTCATTTATGGAAGGCTAACCCTCTGTTGACTGTAAGCCTTTTGGTTTGGGCTGTATTGAAATCCTTTCTAAATTGCATGAATAGG
CTCTGCTAACGTGATGAGACAAACTGAAAATTATTGCAAGCATTGACTATAATTATGCAGTACGTTCTCAGGATGCATCCAGGGGTTCAT
TTTCATGAGCCTGTCCAGGTTAGTTTACTCCTGACCACTAATAGCATTGTCATTTGGGCTTTCTGTTGAATGAATCAACAAACCACAATA
CTTCCTGGGACCTTTTGTACTTTATTTGAACTATGAGTCTTTAATTTTTCCTGATGATGGTGGCTGTAATATGTTGAGTTCAGTTTACTA
AAGGTTTTACTATTATGGTTTGAAGTGGAGTCTCATGACCTCTCAGAATAAGGTGTCACCTCCCTGAAATTGCATATATGTATATAGACA
TGCACACGTGTGCATTTGTTTGTATACATATATTTGTCCTTCGTATAGCAAGTTTTTTGCTCATCAGCAGAGAGCAACAGATGTTTTATT
GAGTGAAGCCTTAAAAAGCACACACCACACACAGCTAACTGCCAAAATACATTGACCGTAGTAGCTGTTCAACTCCTAGTACTTAGAAAT
ACACGTATGGTTAATGTTCAGTCCAACAAACCACACACAGTAAATGTTTATTAATAGTCATGGTTCGTATTTTAGGTGACTGAAATTGCA
TCAGTGATCATAATGAGGTTTGTTAAAACGATAGCTATATTCAAAATGTCTATATGTTTATTTGGACTTTTGAGGTTAAAGACAGTCATA
TAAACGTCCTGTTTCTGTTTTAATGTTATCATAGAATTTTTTAATGAAACTAAATTCAATTGAAATAAATGATAGTTTTCATCTCCATTC

>13048_13048_2_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000412704_length(amino acids)=522AA_BP=15
MALGPRCGAIRACRRGRILNRFSKDIGHLDDLLPLTFLDFIQTLLQVVGVVSVAVAVIPWIAIPLVPLGIIFIFLRRYFLETSRDVKRLE
STTRSPVFSHLSSSLQGLWTIRAYKAEERCQELFDAHQDLHSEAWFLFLTTSRWFAVRLDAICAMFVIIVAFGSLILAKTLDAGQVGLAL
SYALTLMGMFQWCVRQSAEVENMMISVERVIEYTDLEKEAPWEYQKRPPPAWPHEGVIIFDNVNFMYSPGGPLVLKHLTALIKSQEKVGI
VGRTGAGKSSLISALFRLSEPEGKIWIDKILTTEIGLHDLRKKMSIIPQEPVLFTGTMRKNLDPFNEHTDEELWNALQEVQLKETIEDLP
GKMDTELAESGSNFSVGQRQLVCLARAILRKNQILIIDEATANVDPRTDELIQKKIREKFAHCTVLTIAHRLNTIIDSDKIMVLDSGRLK

--------------------------------------------------------------
>13048_13048_3_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000431522_length(transcript)=553nt_BP=64nt
AATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGAAGAATTTTAAATCGTTTCTCCAAA
GACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGAGATGGGATCTCGCTGTGTTGTCCTGGCTGGTCTCA
AACTCCTAGGCTCAAGCAATCCTCCTCCCTCCTCAAGCAAACCTCAGTGCTGGGATTATAGGCATGAGCCACTGTACCTGGCTAAATGTT
GTTTTTTTGATATTCAATTTTTGTTTATAGAATTTTCATTTGTTTTGCTCTTATACTTTTCATCTTTTTATGTTTATTGACCAATTAAAT
ATCATTTGGGTAAGCACCTATTTAAGTGTCTTAACAATTTTTCTATTGAGTACTCTGGGTTTTTGTTTTGTTTTTCTTACTGATTTGTAG
AATTCTTTATGTATTCTGAATTGCAGATACCTTCCTTCTGTACTAATGCTTATCTTTTTAGCCCTGTAATATTGTGTTTTCATAAACATA

>13048_13048_3_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000431522_length(amino acids)=67AA_BP=

--------------------------------------------------------------
>13048_13048_4_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000536256_length(transcript)=555nt_BP=64nt
AATCCGGAATGCTGCCCGATGGCCCTGGGTCCTCGCTGTGGGGCAATCCGGGCTTGCAGACGAGGAAGAATTTTAAATCGTTTCTCCAAA
GACATTGGACACTTGGATGATTTGCTGCCGCTGACGTTTTTAGATTTCATCCAGAGATGGGATCTCGCTGTGTTGTCCTGGCTGGTCTCA
AACTCCTAGGCTCAAGCAATCCTCCTCCCTCCTCAAGCAAACCTCAGTGCTGGGATTATAGGCATGAGCCACTGTACCTGGCTAAATGTT
GTTTTTTTGATATTCAATTTTTGTTTATAGAATTTTCATTTGTTTTGCTCTTATACTTTTCATCTTTTTATGTTTATTGACCAATTAAAT
ATCATTTGGGTAAGCACCTATTTAAGTGTCTTAACAATTTTTCTATTGAGTACTCTGGGTTTTTGTTTTGTTTTTCTTACTGATTTGTAG
AATTCTTTATGTATTCTGAATTGCAGATACCTTCCTTCTGTACTAATGCTTATCTTTTTAGCCCTGTAATATTGTGTTTTCATAAACATA

>13048_13048_4_CARKD-ABCC4_CARKD_chr13_111267994_ENST00000397191_ABCC4_chr13_95768255_ENST00000536256_length(amino acids)=67AA_BP=

--------------------------------------------------------------

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Fusion Gene PPI Analysis for CARKD-ABCC4


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 CARKD-ABCC4


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 CARKD-ABCC4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0009241Cognition Disorders1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0014175Endometriosis1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0269102Endometrioma1CTD_human
TgeneC0342257Complications of Diabetes Mellitus1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC4316881Prescription Drug Abuse1CTD_human