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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ABCC5-SPG7 (FusionGDB2 ID:HG10057TG6687)

Fusion Gene Summary for ABCC5-SPG7

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCC5-SPG7
Fusion gene ID: hg10057tg6687
HgeneTgene
Gene symbol

ABCC5

SPG7

Gene ID

10057

6687

Gene nameATP binding cassette subfamily C member 5SPG7 matrix AAA peptidase subunit, paraplegin
SynonymsABC33|EST277145|MOAT-C|MOATC|MRP5|SMRP|pABC11CAR|CMAR|PGN|SPG5C
Cytomap('ABCC5')('SPG7')

3q27.1

16q24.3

Type of geneprotein-codingprotein-coding
Descriptionmultidrug resistance-associated protein 5ATP-binding cassette, sub-family C (CFTR/MRP), member 5canalicular multispecific organic anion transporter Cmulti-specific organic anion transporter CparapleginSPG7, paraplegin matrix AAA peptidase subunitcell matrix adhesion regulatorspastic paraplegia 7 (pure and complicated autosomal recessive)spastic paraplegia 7 protein
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000265586, ENST00000334444, 
ENST00000382494, ENST00000392579, 
ENST00000427120, ENST00000446941, 
ENST00000492216, 
Fusion gene scores* DoF score16 X 12 X 9=172811 X 8 X 7=616
# samples 1511
** MAII scorelog2(15/1728*10)=-3.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/616*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCC5 [Title/Abstract] AND SPG7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCC5(183677520)-SPG7(89611055), # samples:1
Anticipated loss of major functional domain due to fusion event.ABCC5-SPG7 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.
ABCC5-SPG7 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.
ABCC5-SPG7 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.
ABCC5-SPG7 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.
ABCC5-SPG7 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ABCC5-SPG7 seems lost the major protein functional domain in Hgene 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
HgeneABCC5

GO:0042908

xenobiotic transport

10840050

HgeneABCC5

GO:0140115

export across plasma membrane

10840050


check buttonFusion gene breakpoints across ABCC5 (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 SPG7 (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
ChimerDB4TGCTTCGA-ZM-AA0BABCC5chr3

183677520

-SPG7chr16

89611055

+


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Fusion Gene ORF analysis for ABCC5-SPG7

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-intronENST00000265586ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
5CDS-intronENST00000265586ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
5CDS-intronENST00000334444ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
5CDS-intronENST00000334444ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
Frame-shiftENST00000334444ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
In-frameENST00000265586ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-3CDSENST00000382494ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-3CDSENST00000392579ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-3CDSENST00000427120ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-3CDSENST00000446941ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-3CDSENST00000492216ENST00000268704ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000382494ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000382494ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000392579ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000392579ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000427120ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000427120ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000446941ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000446941ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000492216ENST00000341316ABCC5chr3

183677520

-SPG7chr16

89611055

+
intron-intronENST00000492216ENST00000565891ABCC5chr3

183677520

-SPG7chr16

89611055

+

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)
ENST00000265586ABCC5chr3183677520-ENST00000268704SPG7chr1689611055+423124941235571181

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
ENST00000265586ENST00000268704ABCC5chr3183677520-SPG7chr1689611055+0.0017281610.9982718

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Fusion Genomic Features for ABCC5-SPG7


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)
ABCC5chr3183677520-SPG7chr1689611055+0.0001059610.999894
ABCC5chr3183677520-SPG7chr1689611055+0.0001059610.999894

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ABCC5-SPG7


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/chr3:183677520/chr16:89611055)
- 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
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730179_4598271438.0DomainABC transmembrane type-1 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730562_7838271438.0DomainABC transporter 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730595_6028271438.0Nucleotide bindingATP 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730179_1998271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730219_2398271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730296_3168271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730317_3378271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730400_4208271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730434_4548271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730608_6288271438.0TransmembraneHelical
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010349_3570490.0Nucleotide bindingATP
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010106_1440490.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010166_2480490.0Topological domainMitochondrial intermembrane
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010270_7950490.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010145_1650490.0TransmembraneHelical
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010249_2690490.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301193_14278271438.0DomainABC transporter 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730859_11558271438.0DomainABC transmembrane type-1 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-171193_14270533.3333333333334DomainABC transporter 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17179_4590533.3333333333334DomainABC transmembrane type-1 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17562_7830533.3333333333334DomainABC transporter 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17859_11550533.3333333333334DomainABC transmembrane type-1 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-161193_14270226.0DomainABC transporter 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16179_4590226.0DomainABC transmembrane type-1 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16562_7830226.0DomainABC transporter 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16859_11550226.0DomainABC transmembrane type-1 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301227_12348271438.0Nucleotide bindingATP 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-171227_12340533.3333333333334Nucleotide bindingATP 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17595_6020533.3333333333334Nucleotide bindingATP 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-161227_12340226.0Nucleotide bindingATP 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16595_6020226.0Nucleotide bindingATP 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301018_10388271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301104_11248271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301127_11478271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730848_8688271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730917_9378271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730997_10178271438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-171018_10380533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-171104_11240533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-171127_11470533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17179_1990533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17219_2390533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17296_3160533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17317_3370533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17400_4200533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17434_4540533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17608_6280533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17848_8680533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17917_9370533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000382494-17997_10170533.3333333333334TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-161018_10380226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-161104_11240226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-161127_11470226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16179_1990226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16219_2390226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16296_3160226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16317_3370226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16400_4200226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16434_4540226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16608_6280226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16848_8680226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16917_9370226.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000392579-16997_10170226.0TransmembraneHelical
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817349_357441796.0Nucleotide bindingATP
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817106_144441796.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817166_248441796.0Topological domainMitochondrial intermembrane
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817270_795441796.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817145_165441796.0TransmembraneHelical
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817249_269441796.0TransmembraneHelical


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Fusion Gene Sequence for ABCC5-SPG7


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.
>307_307_1_ABCC5-SPG7_ABCC5_chr3_183677520_ENST00000265586_SPG7_chr16_89611055_ENST00000268704_length(transcript)=4231nt_BP=2494nt
CACTCAGAGAAGATGAAGGATATCGACATAGGAAAAGAGTATATCATCCCCAGTCCTGGGTATAGAAGTGTGAGGGAGAGAACCAGCACT
TCTGGGACGCACAGAGACCGTGAAGATTCCAAGTTCAGGAGAACTCGACCGTTGGAATGCCAAGATGCCTTGGAAACAGCAGCCCGAGCC
GAGGGCCTCTCTCTTGATGCCTCCATGCATTCTCAGCTCAGAATCCTGGATGAGGAGCATCCCAAGGGAAAGTACCATCATGGCTTGAGT
GCTCTGAAGCCCATCCGGACTACTTCCAAACACCAGCACCCAGTGGACAATGCTGGGCTTTTTTCCTGTATGACTTTTTCGTGGCTTTCT
TCTCTGGCCCGTGTGGCCCACAAGAAGGGGGAGCTCTCAATGGAAGACGTGTGGTCTCTGTCCAAGCACGAGTCTTCTGACGTGAACTGC
AGAAGACTAGAGAGACTGTGGCAAGAAGAGCTGAATGAAGTTGGGCCAGACGCTGCTTCCCTGCGAAGGGTTGTGTGGATCTTCTGCCGC
ACCAGGCTCATCCTGTCCATCGTGTGCCTGATGATCACGCAGCTGGCTGGCTTCAGTGGACCAGCCTTCATGGTGAAACACCTCTTGGAG
TATACCCAGGCAACAGAGTCTAACCTGCAGTACAGCTTGTTGTTAGTGCTGGGCCTCCTCCTGACGGAAATCGTGCGGTCTTGGTCGCTT
GCACTGACTTGGGCATTGAATTACCGAACCGGTGTCCGCTTGCGGGGGGCCATCCTAACCATGGCATTTAAGAAGATCCTTAAGTTAAAG
AACATTAAAGAGAAATCCCTGGGTGAGCTCATCAACATTTGCTCCAACGATGGGCAGAGAATGTTTGAGGCAGCAGCCGTTGGCAGCCTG
CTGGCTGGAGGACCCGTTGTTGCCATCTTAGGCATGATTTATAATGTAATTATTCTGGGACCAACAGGCTTCCTGGGATCAGCTGTTTTT
ATCCTCTTTTACCCAGCAATGATGTTTGCATCACGGCTCACAGCATATTTCAGGAGAAAATGCGTGGCCGCCACGGATGAACGTGTCCAG
AAGATGAATGAAGTTCTTACTTACATTAAATTTATCAAAATGTATGCCTGGGTCAAAGCATTTTCTCAGAGTGTTCAAAAAATCCGCGAG
GAGGAGCGTCGGATATTGGAAAAAGCTGGGTACTTCCAGAGCATCACTGTGGGTGTGGCTCCCATTGTGGTGGTGATTGCCAGCGTGGTG
ACCTTCTCTGTTCATATGACCCTGGGCTTCGATCTGACAGCAGCACAGGCTTTCACAGTGGTGACAGTCTTCAATTCCATGACTTTTGCT
TTGAAAGTAACACCGTTTTCAGTAAAGTCCCTCTCAGAAGCCTCAGTGGCTGTTGACAGATTTAAGAGTTTGTTTCTAATGGAAGAGGTT
CACATGATAAAGAACAAACCAGCCAGTCCTCACATCAAGATAGAGATGAAAAATGCCACCTTGGCATGGGACTCCTCCCACTCCAGTATC
CAGAACTCGCCCAAGCTGACCCCCAAAATGAAAAAAGACAAGAGGGCTTCCAGGGGCAAGAAAGAGAAGGTGAGGCAGCTGCAGCGCACT
GAGCATCAGGCGGTGCTGGCAGAGCAGAAAGGCCACCTCCTCCTGGACAGTGACGAGCGGCCCAGTCCCGAAGAGGAAGAAGGCAAGCAC
ATCCACCTGGGCCACCTGCGCTTACAGAGGACACTGCACAGCATCGATCTGGAGATCCAAGAGGGTAAACTGGTTGGAATCTGTGGCAGT
GTGGGAAGTGGAAAAACCTCTCTCATTTCAGCCATTTTAGGCCAGATGACGCTTCTAGAGGGCAGCATTGCAATCAGTGGAACCTTCGCT
TATGTGGCCCAGCAGGCCTGGATCCTCAATGCTACTCTGAGAGACAACATCCTGTTTGGGAAGGAATATGATGAAGAAAGATACAACTCT
GTGCTGAACAGCTGCTGCCTGAGGCCTGACCTGGCCATTCTTCCCAGCAGCGACCTGACGGAGATTGGAGAGCGAGGAGCCAACCTGAGC
GGTGGGCAGCGCCAGAGGATCAGCCTTGCCCGGGCCTTGTATAGTGACAGGAGCATCTACATCCTGGACGACCCCCTCAGTGCCTTAGAT
GCCCATGTGGGCAACCACATCTTCAATAGTGCTATCCGGAAACATCTCAAGTCCAAGACAGTTCTGTTTGTTACCCACCAGTTACAGTAC
CTGGTTGACTGTGATGAAGTGATCTTCATGAAAGAGGGCTGTATTACGGAAAGAGGCACCCATGAGGAACTGATGAATTTAAATGGTGAC
TATGCTACCATTTTTAATAACCTGTTGCTGGGAGAGACACCGCCAGTTGAGATCAATTCAAAAAAGGAAACCAGTGGTTCACAGAAGAAG
TCACAAGACAAGGGTCCTAAAACAGGATCAGTAAAGAAGGAAAAAGCAGTAAAGCCAGAGGAAGGAATGGGTACCACAGACCATGTCATC
GTCCTGGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGATGAGGCCAGGCCGACTGGACCGGCACGTCTTCATTGATCTCCCC
ACGCTGCAGGAGAGGCGGGAGATTTTTGAGCAGCACCTGAAGAGCCTGAAGCTGACCCAGTCCAGCACCTTTTACTCCCAGCGTCTGGCA
GAGCTGACACCAGGATTCAGTGGGGCTGACATCGCCAACATCTGCAATGAGGCTGCGCTGCACGCGGCGCGGGAGGGACACACTTCCGTG
CACACTCTCAACTTCGAGTACGCCGTGGAGCGCGTCCTCGCAGGGACTGCCAAAAAGAGCAAGATCCTGTCCAAGGAAGAACAGAAAGTG
GTTGCGTTTCATGAGTCGGGCCACGCCTTGGTGGGCTGGATGCTGGAGCACACGGAGGCCGTGATGAAGGTCTCCATAACCCCTCGGACA
AACGCCGCCCTGGGCTTTGCTCAGATGCTCCCCAGAGACCAGCACCTCTTCACCAAGGAGCAGCTGTTTGAGCGGATGTGCATGGCCCTG
GGAGGACGGGCCTCGGAAGCACTGTCCTTCAACGAGGTCACTTCTGGGGCACAGGACGACCTGAGGAAGGTCACCCGCATCGCCTACTCC
ATGGTGAAGCAGTTTGGGATGGCACCTGGCATCGGGCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCATCGGGCGGCGCCCC
TTCAGCCAAGGCCTGCAGCAGATGATGGACCATGAAGCAAGACTGCTGGTGGCCAAGGCCTACAGACACACCGAGAAGGTGCTGCAGGAC
AACCTGGACAAGTTGCAGGCGCTGGCAAACGCCCTTCTGGAAAAGGAAGTGATAAACTATGAGGACATTGAGGCTCTCATTGGCCCGCCG
CCCCATGGGCCGAAGAAAATGATCGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGGACTTGGGCGAGGAGGAGACCGAAGAG
ACCCAGCAGCCTCCACTTGGAGGCGAAGAGCCGACTTGGCCCAAGTAGTTGGGAGGTGTTGGCTGCACGTGCGGGTGGTCCGGGAAGTGA
GGGCTCACTCAGCCACCCTGAGTTGCTTTTCAGCTGAGGTTTGCACTTCCTCTCGCGGCCCTCAGTAGTCCCTGCACAGTGACTTCTGAG
ATCTGTTGATTGATGACCCTTTTCATGATTTTAAGTTTCTCTGCAGAAACTACTGACGGAGTCCTGTGTTTGTGAGTCGTTTCCCCTATG
GGGAAGGTTATCAGTGCTTCCCGAGTGAGCATGGAACACTTCGAGTTCCCAGGGTTATAGACAGTCGTTCCCAGTGTGGCTGAGGCCACC
CAGAGGCAGCAGAGCATTCAGACTCCAAACAGACCCCTGTTCATGCCGACGCTTGCACGACCGCCCCAGTTCCTGTGGCTCCCTCGGAAT
GCTAAGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCTATCTCCAGCGGCCCTGTCATCCAGCTCACTCATCAATGGGGCCAG
TCAGGCCCAGGCACTGGGCTCCGGAGGACTCACCACTGCCCCCTGCTGCCATGTGGACTGGTGCAAGTTGAGGACTTCTTGCTGGTCTAG
TCACGCATGCAGTGTTGGGGATGCCTTGGTTTTTACTGCTCTGAGAATTGTTGAGATACTTTACTAATAAACTGTGTAGTTGGAAAATCT
A

>307_307_1_ABCC5-SPG7_ABCC5_chr3_183677520_ENST00000265586_SPG7_chr16_89611055_ENST00000268704_length(amino acids)=1181AA_BP=827
MKDIDIGKEYIIPSPGYRSVRERTSTSGTHRDREDSKFRRTRPLECQDALETAARAEGLSLDASMHSQLRILDEEHPKGKYHHGLSALKP
IRTTSKHQHPVDNAGLFSCMTFSWLSSLARVAHKKGELSMEDVWSLSKHESSDVNCRRLERLWQEELNEVGPDAASLRRVVWIFCRTRLI
LSIVCLMITQLAGFSGPAFMVKHLLEYTQATESNLQYSLLLVLGLLLTEIVRSWSLALTWALNYRTGVRLRGAILTMAFKKILKLKNIKE
KSLGELINICSNDGQRMFEAAAVGSLLAGGPVVAILGMIYNVIILGPTGFLGSAVFILFYPAMMFASRLTAYFRRKCVAATDERVQKMNE
VLTYIKFIKMYAWVKAFSQSVQKIREEERRILEKAGYFQSITVGVAPIVVVIASVVTFSVHMTLGFDLTAAQAFTVVTVFNSMTFALKVT
PFSVKSLSEASVAVDRFKSLFLMEEVHMIKNKPASPHIKIEMKNATLAWDSSHSSIQNSPKLTPKMKKDKRASRGKKEKVRQLQRTEHQA
VLAEQKGHLLLDSDERPSPEEEEGKHIHLGHLRLQRTLHSIDLEIQEGKLVGICGSVGSGKTSLISAILGQMTLLEGSIAISGTFAYVAQ
QAWILNATLRDNILFGKEYDEERYNSVLNSCCLRPDLAILPSSDLTEIGERGANLSGGQRQRISLARALYSDRSIYILDDPLSALDAHVG
NHIFNSAIRKHLKSKTVLFVTHQLQYLVDCDEVIFMKEGCITERGTHEELMNLNGDYATIFNNLLLGETPPVEINSKKETSGSQKKSQDK
GPKTGSVKKEKAVKPEEGMGTTDHVIVLASTNRADILDGALMRPGRLDRHVFIDLPTLQERREIFEQHLKSLKLTQSSTFYSQRLAELTP
GFSGADIANICNEAALHAAREGHTSVHTLNFEYAVERVLAGTAKKSKILSKEEQKVVAFHESGHALVGWMLEHTEAVMKVSITPRTNAAL
GFAQMLPRDQHLFTKEQLFERMCMALGGRASEALSFNEVTSGAQDDLRKVTRIAYSMVKQFGMAPGIGPISFPEAQEGLMGIGRRPFSQG
LQQMMDHEARLLVAKAYRHTEKVLQDNLDKLQALANALLEKEVINYEDIEALIGPPPHGPKKMIAPQRWIDAQREKQDLGEEETEETQQP
PLGGEEPTWPK

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Fusion Gene PPI Analysis for ABCC5-SPG7


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
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817701_795441.3333333333333796.0PPIF
TgeneSPG7chr3:183677520chr16:89611055ENST00000341316010701_7950490.0PPIF


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 ABCC5-SPG7


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 ABCC5-SPG7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneABCC5C0003873Rheumatoid Arthritis1CTD_human
HgeneABCC5C0009402Colorectal Carcinoma1CTD_human
HgeneABCC5C0009404Colorectal Neoplasms1CTD_human
HgeneABCC5C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC1846564SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE9CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0030486Paraplegia1CTD_human
TgeneC0037772Spastic Paraplegia1CTD_human
TgeneC0154682Lateral Sclerosis1ORPHANET
TgeneC0242036Paraplegia, Ataxic1CTD_human
TgeneC0278114Paraplegia, Cerebral1CTD_human
TgeneC0278115Paraplegia, Spinal1CTD_human
TgeneC0452143Paraplegia, Flaccid1CTD_human
TgeneC1968845Primary Lateral Sclerosis, Adult, 11ORPHANET
TgeneC3711370Spastic Paraplegia Type 71ORPHANET