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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TBC1D5-HTT (FusionGDB2 ID:88770)

Fusion Gene Summary for TBC1D5-HTT

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D5-HTT
Fusion gene ID: 88770
HgeneTgene
Gene symbol

TBC1D5

HTT

Gene ID

9779

6532

Gene nameTBC1 domain family member 5solute carrier family 6 member 4
Synonyms-5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT
Cytomap

3p24.3

17q11.2

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 5sodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (ne
Modification date2020031320200329
UniProtAcc.

P42858

Ensembl transtripts involved in fusion geneENST00000414318, ENST00000253692, 
ENST00000429383, ENST00000446818, 
ENST00000429924, 		ENST00000355072, 
ENST00000513806, 
Fusion gene scores* DoF score20 X 16 X 9=28809 X 12 X 4=432
# samples 2211
** MAII scorelog2(22/2880*10)=-3.71049338280502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/432*10)=-1.97352778863881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TBC1D5 [Title/Abstract] AND HTT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTBC1D5(17783973)-HTT(3225133), # samples:3
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneTBC1D5

GO:0006914

autophagy

22354992

HgeneTBC1D5

GO:0042594

response to starvation

22354992

TgeneHTT

GO:0009636

response to toxic substance

17575980

TgeneHTT

GO:0015844

monoamine transport

16024787

TgeneHTT

GO:0051610

serotonin uptake

8987735|16870614|17506858


check buttonFusion gene breakpoints across TBC1D5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across HTT (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRCTCGA-B0-4696-01ATBC1D5chr3

17783973

-HTTchr4

3225133

+
ChimerDB4KIRCTCGA-B0-4696-01ATBC1D5chr3

17783973

-HTTchr4

3225133

+
ChimerDB4KIRCTCGA-B0-4696-01ATBC1D5chr3

17783973

-HTTchr4

3224114

+
ChimerDB4KIRCTCGA-B0-4696-01ATBC1D5chr3

17783973

-HTTchr4

3225133

+


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Fusion Gene ORF analysis for TBC1D5-HTT

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-3CDSENST00000414318ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-intronENST00000414318ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-3CDSENST00000253692ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-intronENST00000253692ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3225133

+
5UTR-3CDSENST00000429383ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3225133

+
5UTR-intronENST00000429383ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-3CDSENST00000446818ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-intronENST00000446818ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-3CDSENST00000429924ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-intronENST00000429924ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3225133

+
intron-3CDSENST00000414318ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-intronENST00000414318ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-3CDSENST00000253692ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-intronENST00000253692ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3224114

+
5UTR-3CDSENST00000429383ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3224114

+
5UTR-intronENST00000429383ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-3CDSENST00000446818ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-intronENST00000446818ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-3CDSENST00000429924ENST00000355072TBC1D5chr3

17783973

-HTTchr4

3224114

+
intron-intronENST00000429924ENST00000513806TBC1D5chr3

17783973

-HTTchr4

3224114

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TBC1D5-HTT


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
TBC1D5chr317783972-HTTchr43224113+0.014228330.98577166
TBC1D5chr317783972-HTTchr43225132+8.09E-050.99991906
TBC1D5chr317783972-HTTchr43224113+0.014228330.98577166
TBC1D5chr317783972-HTTchr43225132+8.09E-050.99991906

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for TBC1D5-HTT


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P42858

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: [Huntingtin]: May play a role in microtubule-mediated transport or vesicle function.; FUNCTION: [Huntingtin, myristoylated N-terminal fragment]: Promotes the formation of autophagic vesicles. {ECO:0000269|PubMed:24459296}.

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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Fusion Gene Sequence for TBC1D5-HTT


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TBC1D5-HTT


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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Related Drugs for TBC1D5-HTT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHTTP42858DB09130CopperSmall moleculeApproved|Investigational
TgeneHTTP42858DB09130CopperSmall moleculeApproved|Investigational
TgeneHTTP42858DB09130CopperSmall moleculeApproved|Investigational

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Related Diseases for TBC1D5-HTT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHTTC0020179Huntington Disease12CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneHTTC0751208Juvenile Huntington Disease12CTD_human;ORPHANET
TgeneHTTC0393574Huntington Disease, Late Onset11CTD_human
TgeneHTTC0751207Akinetic-Rigid Variant of Huntington Disease11CTD_human
TgeneHTTC0011570Mental Depression4PSYGENET
TgeneHTTC0011581Depressive disorder4PSYGENET
TgeneHTTC0525045Mood Disorders2PSYGENET
TgeneHTTC4479491LOPES-MACIEL-RODAN SYNDROME2GENOMICS_ENGLAND;UNIPROT
TgeneHTTC0006635Cadmium poisoning1CTD_human
TgeneHTTC0026650Movement Disorders1CTD_human
TgeneHTTC0266487Etat Marbre1CTD_human
TgeneHTTC0677050Manganese Poisoning1CTD_human
TgeneHTTC3714756Intellectual Disability1GENOMICS_ENGLAND