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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: 37348

FusionGeneSummary for TBC1D17_MEF2C

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D17_MEF2C
Fusion gene ID: 37348
HgeneTgene
Gene symbol

TBC1D17

MEF2C

Gene ID

79735

4208

Gene nameTBC1 domain family member 17myocyte enhancer factor 2C
Synonyms-C5DELq14.3|DEL5q14.3
Cytomap

19q13.33

5q14.3

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 17myocyte-specific enhancer factor 2CMADS box transcription enhancer factor 2, polypeptide C
Modification date2018052320180524
UniProtAcc

Q9HA65

Q06413

Ensembl transtripts involved in fusion geneENST00000221543, ENST00000535102, 
ENST00000598789, 		ENST00000340208, 
ENST00000424173, ENST00000504921, 
ENST00000514028, ENST00000437473, 
ENST00000510942, ENST00000506554, 
ENST00000508569, ENST00000514015, 
ENST00000539796, ENST00000503554, 
Fusion gene scores* DoF score4 X 4 X 2=328 X 8 X 2=128
# samples 48
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/128*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D17 [Title/Abstract] AND MEF2C [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
TgeneMEF2C

GO:0000165

MAPK cascade

9858528

TgeneMEF2C

GO:0006355

regulation of transcription, DNA-templated

24008018

TgeneMEF2C

GO:0010628

positive regulation of gene expression

9857019|21556048

TgeneMEF2C

GO:0030279

negative regulation of ossification

17696759

TgeneMEF2C

GO:0045893

positive regulation of transcription, DNA-templated

17696759

TgeneMEF2C

GO:0045944

positive regulation of transcription by RNA polymerase II

8455629|15486975|16043483

TgeneMEF2C

GO:0071374

cellular response to parathyroid hormone stimulus

17696759

TgeneMEF2C

GO:0071560

cellular response to transforming growth factor beta stimulus

9770491

TgeneMEF2C

GO:2000727

positive regulation of cardiac muscle cell differentiation

9857019

TgeneMEF2C

GO:2001016

positive regulation of skeletal muscle cell differentiation

21556048


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
ChiTaRS3.1BF884734TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
* 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-intronENST00000221543ENST00000340208TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000424173TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000504921TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000514028TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000437473TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000510942TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000506554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000508569TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000514015TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000539796TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000221543ENST00000503554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000340208TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000424173TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000504921TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000514028TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000437473TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000510942TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000506554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000508569TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000514015TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000539796TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000535102ENST00000503554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000340208TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000424173TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000504921TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000514028TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000437473TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000510942TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000506554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000508569TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000514015TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000539796TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+
intron-intronENST00000598789ENST00000503554TBC1D17chr19

50388728

-MEF2Cchr5

88161407

+

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FusionProtFeatures for TBC1D17_MEF2C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D17

Q9HA65

MEF2C

Q06413

Probable GTPase-activating protein for Rab8; itstransient association with Rab8 is mediated by OPTN. InhibitsRab8-mediated endocytic trafficking, such as of transferrinreceptor (TfR) and reduces Rab8 recruitnment to tubules emanatingfrom the endocytic recycling compartment (ERC). Involved inregulation of autophagy. Mediates inhibition of autophagy causedby the OPTN variant GLC1E LYS-50; the function requires itscatalytic activity, however, the involved Rab is not known.{ECO:0000269|PubMed:22854040, ECO:0000269|PubMed:24752605}. Transcription activator which binds specifically to theMEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, andis also involved in vascular development. Plays an essential rolein hippocampal-dependent learning and memory by suppressing thenumber of excitatory synapses and thus regulating basal and evokedsynaptic transmission. Crucial for normal neuronal development,distribution, and electrical activity in the neocortex. Necessaryfor proper development of megakaryocytes and platelets and forbone marrow B-lymphopoiesis. Required for B-cell survival andproliferation in response to BCR stimulation, efficient IgG1antibody responses to T-cell-dependent antigens and for normalinduction of germinal center B-cells. May also be involved inneurogenesis and in the development of cortical architecture (Bysimilarity). Isoform 3 and isoform 4, which lack the repressordomain, are more active than isoform 1 and isoform 2.{ECO:0000250|UniProtKB:Q8CFN5, ECO:0000269|PubMed:11904443,ECO:0000269|PubMed:15340086, ECO:0000269|PubMed:15831463,ECO:0000269|PubMed:15834131, ECO:0000269|PubMed:9069290,ECO:0000269|PubMed:9384584}.

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 TBC1D17_MEF2C


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 TBC1D17_MEF2C


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


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 TBC1D17_MEF2C


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 TBC1D17_MEF2C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMEF2CC0004352Autistic Disorder1CTD_human
TgeneMEF2CC0014544Epilepsy1CTD_human;HPO
TgeneMEF2CC0038220Status Epilepticus1CTD_human
TgeneMEF2CC0038273Stereotypic Movement Disorder1CTD_human;HPO
TgeneMEF2CC1510586Autism Spectrum Disorders1CTD_human;HPO
TgeneMEF2CC3714756Intellectual Disability1CTD_human