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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: 33549

FusionGeneSummary for SGCB_SPATA18

check button Fusion gene summary
Fusion gene informationFusion gene name: SGCB_SPATA18
Fusion gene ID: 33549
HgeneTgene
Gene symbol

SGCB

SPATA18

Gene ID

6443

132671

Gene namesarcoglycan betaspermatogenesis associated 18
SynonymsA3b|LGMD2E|SGCMieap|SPETEX1
Cytomap

4q12

4q12

Type of geneprotein-codingprotein-coding
Descriptionbeta-sarcoglycan43 kDa dystrophin-associated glycoprotein43DAGbeta-SGbeta-sarcoglycan(43kD dystrophin-associated glycoprotein)limb girdle muscular dystrophy 2E (non-linked families)sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)mitochondria-eating proteinspermatogenesis associated 18 homologtestis tissue sperm-binding protein Li 71n
Modification date2018051920180523
UniProtAcc

Q16585

Q8TC71

Ensembl transtripts involved in fusion geneENST00000381431, ENST00000535450, 
ENST00000295213, ENST00000419395, 
ENST00000506829, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 3 X 2=12
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SGCB [Title/Abstract] AND SPATA18 [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
TgeneSPATA18

GO:0006974

cellular response to DNA damage stimulus

21264221


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
TCGARVLUSCTCGA-66-2787-01ASGCBchr4

52899597

-SPATA18chr4

52926585

+
* 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
In-frameENST00000381431ENST00000295213SGCBchr4

52899597

-SPATA18chr4

52926585

+
In-frameENST00000381431ENST00000419395SGCBchr4

52899597

-SPATA18chr4

52926585

+
5CDS-intronENST00000381431ENST00000506829SGCBchr4

52899597

-SPATA18chr4

52926585

+
intron-3CDSENST00000535450ENST00000295213SGCBchr4

52899597

-SPATA18chr4

52926585

+
intron-3CDSENST00000535450ENST00000419395SGCBchr4

52899597

-SPATA18chr4

52926585

+
intron-intronENST00000535450ENST00000506829SGCBchr4

52899597

-SPATA18chr4

52926585

+

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FusionProtFeatures for SGCB_SPATA18


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

Q16585

SPATA18

Q8TC71

Component of the sarcoglycan complex, a subcomplex ofthe dystrophin-glycoprotein complex which forms a link between theF-actin cytoskeleton and the extracellular matrix. Key regulator of mitochondrial quality that mediates therepairing or degradation of unhealthy mitochondria in response tomitochondrial damage. Mediator of mitochondrial protein catabolicprocess (also named MALM) by mediating the degradation of damagedproteins inside mitochondria by promoting the accumulation in themitochondrial matrix of hydrolases that are characteristic of thelysosomal lumen. Also involved in mitochondrion degradation ofdamaged mitochondria by promoting the formation of vacuole-likestructures (named MIV), which engulf and degrade unhealthymitochondria by accumulating lysosomes. The physical interactionof SPATA18/MIEAP, BNIP3 and BNIP3L/NIX at the mitochondrial outermembrane regulates the opening of a pore in the mitochondrialdouble membrane in order to mediate the translocation of lysosomalproteins from the cytoplasm to the mitochondrial matrix.{ECO:0000269|PubMed:21264221, ECO:0000269|PubMed:21264228,ECO:0000269|PubMed:22292033}.

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
HgeneSGCBchr4:52899597chr4:52926585ENST00000381431-261_6581319Topological domainCytoplasmic
TgeneSPATA18chr4:52899597chr4:52926585ENST00000295213+013118_18729539Coiled coilOntology_term=ECO:0000255
TgeneSPATA18chr4:52899597chr4:52926585ENST00000295213+013219_25629539Coiled coilOntology_term=ECO:0000255
TgeneSPATA18chr4:52899597chr4:52926585ENST00000419395+012118_18729507Coiled coilOntology_term=ECO:0000255
TgeneSPATA18chr4:52899597chr4:52926585ENST00000419395+012219_25629507Coiled coilOntology_term=ECO:0000255
TgeneSPATA18chr4:52899597chr4:52926585ENST00000295213+013257_31329539Compositional biasNote=Ser-rich
TgeneSPATA18chr4:52899597chr4:52926585ENST00000419395+012257_31329507Compositional biasNote=Ser-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSGCBchr4:52899597chr4:52926585ENST00000381431-2697_31481319Compositional biasNote=Cys-rich
HgeneSGCBchr4:52899597chr4:52926585ENST00000381431-2687_31881319Topological domainExtracellular
HgeneSGCBchr4:52899597chr4:52926585ENST00000381431-2666_8681319TransmembraneHelical%3B Signal-anchor for type II membrane protein


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FusionGeneSequence for SGCB_SPATA18


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 SGCB_SPATA18


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
SGCBSGCZ, SGCD, ZACN, GLRA2, HTR3A, CHRND, TMED6, TCTN2, TSPAN17SPATA18PAXIP1, CEP128, ODF2


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 SGCB_SPATA18


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 SGCB_SPATA18


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSGCBC1858593Limb-girdle muscular dystrophy, type 2E3CTD_human;ORPHANET;UNIPROT
HgeneSGCBC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneSGCBC0878544Cardiomyopathies1CTD_human