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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: 35868

FusionGeneSummary for SPTBN5_MGA

check button Fusion gene summary
Fusion gene informationFusion gene name: SPTBN5_MGA
Fusion gene ID: 35868
HgeneTgene
Gene symbol

SPTBN5

MGA

Gene ID

51332

23269

Gene namespectrin beta, non-erythrocytic 5MGA, MAX dimerization protein
SynonymsBSPECV|HUBSPECV|HUSPECVMAD5|MXD5
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
Descriptionspectrin beta chain, non-erythrocytic 5beta V spectrinspectrin beta chain, brain 4spectrin, non-erythroid beta chain 4MAX gene-associated proteinMAX dimerization protein 5
Modification date2018052320180519
UniProtAcc

Q9NRC6

Q8IWI9

Ensembl transtripts involved in fusion geneENST00000320955, ENST00000568630, 
ENST00000545763, ENST00000389936, 
ENST00000219905, ENST00000566586, 
ENST00000570161, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 3 X 3=27
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SPTBN5 [Title/Abstract] AND MGA [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
HgeneSPTBN5

GO:0051260

protein homooligomerization

23704327


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
TCGALDLUSCTCGA-85-8479-01ASPTBN5chr15

42153617

-MGAchr15

42053937

+
* 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-intronENST00000320955ENST00000568630SPTBN5chr15

42153617

-MGAchr15

42053937

+
5CDS-intronENST00000320955ENST00000545763SPTBN5chr15

42153617

-MGAchr15

42053937

+
5CDS-intronENST00000320955ENST00000389936SPTBN5chr15

42153617

-MGAchr15

42053937

+
5CDS-intronENST00000320955ENST00000219905SPTBN5chr15

42153617

-MGAchr15

42053937

+
5CDS-intronENST00000320955ENST00000566586SPTBN5chr15

42153617

-MGAchr15

42053937

+
5CDS-intronENST00000320955ENST00000570161SPTBN5chr15

42153617

-MGAchr15

42053937

+

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FusionProtFeatures for SPTBN5_MGA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SPTBN5

Q9NRC6

MGA

Q8IWI9

Functions as a dual-specificity transcription factor,regulating the expression of both MAX-network and T-box familytarget genes. Functions as a repressor or an activator. Binds to5'-AATTTCACACCTAGGTGTGAAATT-3' core sequence and seems to regulateMYC-MAX target genes. Suppresses transcriptional activation by MYCand inhibits MYC-dependent cell transformation. Function activatedby heterodimerization with MAX. This heterodimerization serves thedual function of both generating an E-box-binding heterodimer andsimultaneously blocking interaction of a corepressor (Bysimilarity). {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

- 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 SPTBN5_MGA


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 SPTBN5_MGA


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
SPTBN5SPTAN1, KRAS, FBF1, GANMGAE2F1, E2F3, E2F4, CBX3, MAX, PCGF3, PCGF6, RNF2, CBX2, CBX4, RYBP, YAF2, CD2BP2, SMAD1, LSM8, HIST3H3, OBSL1, EED, PSME3, RFPL4B, E2F6, WBP2NL, WDR5, CARD8, LTBR, PSMC3, MIER2, UNK, NIN, HIST1H3E, HDAC1, ZMYND8, KDM5C, ALKBH3, RC3H1, ATOH1, L3MBTL2, ZNF692, KLHL40, MLX, CDC16, CDH19, ASB6, DYNC1I1, CYLD


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 SPTBN5_MGA


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 SPTBN5_MGA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMGAC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneMGAC0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneMGAC0079772T-Cell Lymphoma1CTD_human