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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 35666

FusionGeneSummary for SPG7_GSE1

check button Fusion gene summary
Fusion gene informationFusion gene name: SPG7_GSE1
Fusion gene ID: 35666
HgeneTgene
Gene symbol

SPG7

GSE1

Gene ID

6687

23199

Gene nameSPG7, paraplegin matrix AAA peptidase subunitGse1 coiled-coil protein
SynonymsCAR|CMAR|PGN|SPG5CCRHSP24|KIAA0182
Cytomap

16q24.3

16q24.1

Type of geneprotein-codingprotein-coding
Descriptionparaplegincell matrix adhesion regulatorspastic paraplegia 7 (pure and complicated autosomal recessive)spastic paraplegia 7 proteingenetic suppressor element 1CTC-786C10.1Gse1 coiled-coil protein homolog
Modification date2018052320180519
UniProtAcc

Q9UQ90

Q14687

Ensembl transtripts involved in fusion geneENST00000268704, ENST00000341316, 
ENST00000565891, 
ENST00000405402, 
ENST00000253458, ENST00000393243, 
ENST00000471070, 
Fusion gene scores* DoF score5 X 4 X 3=607 X 7 X 5=245
# samples 57
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SPG7 [Title/Abstract] AND GSE1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSKCMTCGA-YG-AA3O-06ASPG7chr16

89599044

+GSE1chr16

85682158

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000268704ENST00000405402SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-5UTRENST00000268704ENST00000253458SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-5UTRENST00000268704ENST00000393243SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-intronENST00000268704ENST00000471070SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-5UTRENST00000341316ENST00000405402SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-5UTRENST00000341316ENST00000253458SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-5UTRENST00000341316ENST00000393243SPG7chr16

89599044

+GSE1chr16

85682158

+
5CDS-intronENST00000341316ENST00000471070SPG7chr16

89599044

+GSE1chr16

85682158

+
intron-5UTRENST00000565891ENST00000405402SPG7chr16

89599044

+GSE1chr16

85682158

+
intron-5UTRENST00000565891ENST00000253458SPG7chr16

89599044

+GSE1chr16

85682158

+
intron-5UTRENST00000565891ENST00000393243SPG7chr16

89599044

+GSE1chr16

85682158

+
intron-intronENST00000565891ENST00000471070SPG7chr16

89599044

+GSE1chr16

85682158

+

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FusionProtFeatures for SPG7_GSE1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPG7

Q9UQ90

GSE1

Q14687

ATP-dependent zinc metalloprotease. Plays a role in theformation and regulation of the mitochondrial permeabilitytransition pore (mPTP) and its proteolytic activity is dispensablefor this function (PubMed:26387735). {ECO:0000269|PubMed:26387735,ECO:0000305}.

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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FusionGeneSequence for SPG7_GSE1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SPG7_GSE1


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
SPG7PLSCR1, KRTAP4-12, MDFI, RALY, LRIF1, TRIM28, MAPK6, HNRNPR, SFXN2, SRSF3, SLC25A3, SPATS1, STAMBP, HNRNPK, PSTPIP1, PNMA1, PSME3, RBPMS, MTUS2, CCNDBP1, LZTS2, KRT40, KHDRBS2, KRTAP10-7, KRTAP10-9, KRTAP10-3, NOTCH2NL, GPR55, SDF4, ART3, NDUFB9, ISLR, FAF2, HTR3C, KRTAP5-9, PDK1, EMC2, CERK, C2orf47, MAS1, LPAR4, LPCAT4, FAM109A, CPA5, FAM174A, HDAC10, CD79A, SLC2A12, ITM2A, AP3S1, APLNRGSE1NUDT18, RBPMS, RCOR3, HDAC2, KDM1A, RBM48, XRCC6, NR2E1, CDC5L, CEP63, TNIK, ELAVL1, TCF3, FUS, HDAC1, MTA3, EXOSC6, DGCR6, RUNX1T1, GOLGA2, TRIP6, RALBP1, GSE1, C1orf94, TEKT4, C6orf165, SNAI1, HMG20B, FGF1, DOK4, NTRK1, SRPK2, NINL, MAPK3, HMG20A, TCF4, EYA2, LLGL2, HAO2, FAM136A, NR3C1, AR, TRIM25


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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RelatedDrugs for SPG7_GSE1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SPG7_GSE1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSPG7C1846564SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE2CTD_human;ORPHANET;UNIPROT
HgeneSPG7C0030486Paraplegia1CTD_human