FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 21819

FusionGeneSummary for MGA_SPTBN5

check button Fusion gene summary
Fusion gene informationFusion gene name: MGA_SPTBN5
Fusion gene ID: 21819
HgeneTgene
Gene symbol

MGA

SPTBN5

Gene ID

23269

51332

Gene nameMGA, MAX dimerization proteinspectrin beta, non-erythrocytic 5
SynonymsMAD5|MXD5BSPECV|HUBSPECV|HUSPECV
Cytomap

15q15.1

15q15.1

Type of geneprotein-codingprotein-coding
DescriptionMAX gene-associated proteinMAX dimerization protein 5spectrin beta chain, non-erythrocytic 5beta V spectrinspectrin beta chain, brain 4spectrin, non-erythroid beta chain 4
Modification date2018051920180523
UniProtAcc

Q8IWI9

Q9NRC6

Ensembl transtripts involved in fusion geneENST00000568630, ENST00000545763, 
ENST00000389936, ENST00000219905, 
ENST00000566586, ENST00000570161, 
ENST00000320955, 
Fusion gene scores* DoF score14 X 10 X 9=12601 X 1 X 1=1
# samples 141
** MAII scorelog2(14/1260*10)=-3.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: MGA [Title/Abstract] AND SPTBN5 [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
TgeneSPTBN5

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
TCGARVLUSCTCGA-85-8479-01AMGAchr15

42052727

+SPTBN5chr15

42149908

-
* 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
intron-3CDSENST00000568630ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-
In-frameENST00000545763ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-
In-frameENST00000389936ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-
In-frameENST00000219905ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-
In-frameENST00000566586ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-
In-frameENST00000570161ENST00000320955MGAchr15

42052727

+SPTBN5chr15

42149908

-

Top

FusionProtFeatures for MGA_SPTBN5


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

Q8IWI9

SPTBN5

Q9NRC6

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


Top

FusionGeneSequence for MGA_SPTBN5


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).

Top

FusionGenePPI for MGA_SPTBN5


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
MGAE2F1, 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, CYLDSPTBN5SPTAN1, KRAS, FBF1, GAN


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


Top

RelatedDrugs for MGA_SPTBN5


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

Top

RelatedDiseases for MGA_SPTBN5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMGAC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneMGAC0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
HgeneMGAC0079772T-Cell Lymphoma1CTD_human