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Fusion gene ID: 35666 |
FusionGeneSummary for SPG7_GSE1 |
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Fusion gene information | Fusion gene name: SPG7_GSE1 | Fusion gene ID: 35666 | Hgene | Tgene | Gene symbol | SPG7 | GSE1 | Gene ID | 6687 | 23199 |
Gene name | SPG7, paraplegin matrix AAA peptidase subunit | Gse1 coiled-coil protein | |
Synonyms | CAR|CMAR|PGN|SPG5C | CRHSP24|KIAA0182 | |
Cytomap | 16q24.3 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | paraplegincell matrix adhesion regulatorspastic paraplegia 7 (pure and complicated autosomal recessive)spastic paraplegia 7 protein | genetic suppressor element 1CTC-786C10.1Gse1 coiled-coil protein homolog | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9UQ90 | Q14687 | |
Ensembl transtripts involved in fusion gene | ENST00000268704, ENST00000341316, ENST00000565891, | ENST00000405402, ENST00000253458, ENST00000393243, ENST00000471070, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 7 X 7 X 5=245 |
# samples | 5 | 7 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SKCM | TCGA-YG-AA3O-06A | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000268704 | ENST00000405402 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-5UTR | ENST00000268704 | ENST00000253458 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-5UTR | ENST00000268704 | ENST00000393243 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-intron | ENST00000268704 | ENST00000471070 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-5UTR | ENST00000341316 | ENST00000405402 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-5UTR | ENST00000341316 | ENST00000253458 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-5UTR | ENST00000341316 | ENST00000393243 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
5CDS-intron | ENST00000341316 | ENST00000471070 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
intron-5UTR | ENST00000565891 | ENST00000405402 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
intron-5UTR | ENST00000565891 | ENST00000253458 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
intron-5UTR | ENST00000565891 | ENST00000393243 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
intron-intron | ENST00000565891 | ENST00000471070 | SPG7 | chr16 | 89599044 | + | GSE1 | chr16 | 85682158 | + |
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FusionProtFeatures for SPG7_GSE1 |
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Hgene | Tgene |
SPG7 | GSE1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SPG7_GSE1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SPG7 | PLSCR1, 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, APLNR | GSE1 | NUDT18, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SPG7_GSE1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SPG7_GSE1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SPG7 | C1846564 | SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | 2 | CTD_human;ORPHANET;UNIPROT |
Hgene | SPG7 | C0030486 | Paraplegia | 1 | CTD_human |