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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: 16951

FusionGeneSummary for HTT_HTT

check button Fusion gene summary
Fusion gene informationFusion gene name: HTT_HTT
Fusion gene ID: 16951
HgeneTgene
Gene symbol

HTT

HTT

Gene ID

6532

6532

Gene namesolute carrier family 6 member 4solute carrier family 6 member 4
Synonyms5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT5-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT
Cytomap

17q11.2

17q11.2

Type of geneprotein-codingprotein-coding
Descriptionsodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (nesodium-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 date2018052720180527
UniProtAcc

P42858

P42858

Ensembl transtripts involved in fusion geneENST00000355072, ENST00000513806, 
ENST00000355072, ENST00000513806, 
Fusion gene scores* DoF score8 X 12 X 8=7687 X 8 X 4=224
# samples 128
** MAII scorelog2(12/768*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HTT [Title/Abstract] AND HTT [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
HgeneHTT

GO:0006837

serotonin transport

19270731

HgeneHTT

GO:0009636

response to toxic substance

17575980

HgeneHTT

GO:0015844

monoamine transport

16024787

HgeneHTT

GO:0051610

serotonin uptake

8987735|16870614|17506858|18227069|19270731

TgeneHTT

GO:0006837

serotonin transport

19270731

TgeneHTT

GO:0009636

response to toxic substance

17575980

TgeneHTT

GO:0015844

monoamine transport

16024787

TgeneHTT

GO:0051610

serotonin uptake

8987735|16870614|17506858|18227069|19270731


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
ChiTaRS3.1AI201664HTTchr4

3210623

+HTTchr4

3209091

+
ChiTaRS3.1BQ028307HTTchr4

3098738

-HTTchr14

104978094

-
* 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-intronENST00000355072ENST00000355072HTTchr4

3210623

+HTTchr4

3209091

+
5CDS-intronENST00000355072ENST00000513806HTTchr4

3210623

+HTTchr4

3209091

+
intron-intronENST00000513806ENST00000355072HTTchr4

3210623

+HTTchr4

3209091

+
intron-intronENST00000513806ENST00000513806HTTchr4

3210623

+HTTchr4

3209091

+
intron-intronENST00000355072ENST00000355072HTTchr4

3098738

-HTTchr14

104978094

-
intron-intronENST00000355072ENST00000513806HTTchr4

3098738

-HTTchr14

104978094

-
intron-intronENST00000513806ENST00000355072HTTchr4

3098738

-HTTchr14

104978094

-
intron-intronENST00000513806ENST00000513806HTTchr4

3098738

-HTTchr14

104978094

-

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FusionProtFeatures for HTT_HTT


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

P42858

HTT

P42858

May play a role in microtubule-mediated transport orvesicle function. May play a role in microtubule-mediated transport orvesicle function.

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 HTT_HTT


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 HTT_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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RelatedDrugs for HTT_HTT


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 HTT_HTT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHTTC0020179Huntington Disease9CTD_human;ORPHANET
HgeneHTTC0011570Mental Depression4PSYGENET
HgeneHTTC0011581Depressive disorder4HPO;PSYGENET
HgeneHTTC0525045Mood Disorders2PSYGENET
HgeneHTTC0006635Cadmium poisoning1CTD_human
HgeneHTTC0026650Movement Disorders1CTD_human;HPO
HgeneHTTC0677050Manganese Poisoning1CTD_human
TgeneHTTC0020179Huntington Disease9CTD_human;ORPHANET
TgeneHTTC0011570Mental Depression4PSYGENET
TgeneHTTC0011581Depressive disorder4HPO;PSYGENET
TgeneHTTC0525045Mood Disorders2PSYGENET
TgeneHTTC0006635Cadmium poisoning1CTD_human
TgeneHTTC0026650Movement Disorders1CTD_human;HPO
TgeneHTTC0677050Manganese Poisoning1CTD_human