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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ABCC5-SPG7

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ABCC5-SPG7
FusionPDB ID: 307
FusionGDB2.0 ID: 307
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

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

O15440

.
Ensembl transtripts involved in fusion geneENST idsENST00000265586, ENST00000334444, 
ENST00000382494, ENST00000392579, 
ENST00000427120, ENST00000446941, 
ENST00000492216, 		ENST00000341316, 
ENST00000565891, ENST00000268704, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* 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 (manual curation of fusion genes in FusionPDB)

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

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ABCC5(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


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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 ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
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 Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>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

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

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Fusion Protein Functional Features


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
ABCC5

O15440

.
FUNCTION: Acts as a multispecific organic anion pump which can transport nucleotide analogs. Heme transporter required for the translocation of cytosolic heme to the secretory pathway (PubMed:24836561). {ECO:0000269|PubMed:10840050, ECO:0000269|PubMed:24836561}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730179_459827.33333333333341438.0DomainABC transmembrane type-1 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730562_783827.33333333333341438.0DomainABC transporter 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730595_602827.33333333333341438.0Nucleotide bindingATP 1
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730179_199827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730219_239827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730296_316827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730317_337827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730400_420827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730434_454827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730608_628827.33333333333341438.0TransmembraneHelical
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

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301193_1427827.33333333333341438.0DomainABC transporter 2
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730859_1155827.33333333333341438.0DomainABC 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_1234827.33333333333341438.0Nucleotide 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_1038827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301104_1124827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-17301127_1147827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730848_868827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730917_937827.33333333333341438.0TransmembraneHelical
HgeneABCC5chr3:183677520chr16:89611055ENST00000334444-1730997_1017827.33333333333341438.0TransmembraneHelical
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_357441.3333333333333796.0Nucleotide bindingATP
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817106_144441.3333333333333796.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817166_248441.3333333333333796.0Topological domainMitochondrial intermembrane
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817270_795441.3333333333333796.0Topological domainMitochondrial matrix
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817145_165441.3333333333333796.0TransmembraneHelical
TgeneSPG7chr3:183677520chr16:89611055ENST00000268704817249_269441.3333333333333796.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ABCC5
SPG7


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to ABCC5-SPG7


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ABCC5-SPG7


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource