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: 16752

FusionGeneSummary for HPS1_TBX15

check button Fusion gene summary
Fusion gene informationFusion gene name: HPS1_TBX15
Fusion gene ID: 16752
HgeneTgene
Gene symbol

HPS1

TBX15

Gene ID

3257

6913

Gene nameHPS1, biogenesis of lysosomal organelles complex 3 subunit 1T-box 15
SynonymsBLOC3S1|HPSTBX14
Cytomap

10q24.2

1p12

Type of geneprotein-codingprotein-coding
DescriptionHermansky-Pudlak syndrome 1 proteinHermansky-Pudlak syndrome 1 protein isoformT-box transcription factor TBX15T-box 14T-box protein 14T-box protein 15T-box transcription factor TBX14
Modification date2018051920180522
UniProtAcc

Q92902

Q96SF7

Ensembl transtripts involved in fusion geneENST00000361490, ENST00000325103, 
ENST00000467246, ENST00000338546, 
ENST00000207157, ENST00000369429, 
Fusion gene scores* DoF score2 X 2 X 2=84 X 4 X 3=48
# samples 24
** MAII scorelog2(2/8*10)=1.32192809488736log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HPS1 [Title/Abstract] AND TBX15 [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
HgeneHPS1

GO:1903232

melanosome assembly

23084991


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
ChiTaRS3.1BQ435040HPS1chr10

100177031

-TBX15chr1

119524790

+
* 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-intronENST00000361490ENST00000207157HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000361490ENST00000369429HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000325103ENST00000207157HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000325103ENST00000369429HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000467246ENST00000207157HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000467246ENST00000369429HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000338546ENST00000207157HPS1chr10

100177031

-TBX15chr1

119524790

+
intron-intronENST00000338546ENST00000369429HPS1chr10

100177031

-TBX15chr1

119524790

+

Top

FusionProtFeatures for HPS1_TBX15


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HPS1

Q92902

TBX15

Q96SF7

Component of the BLOC-3 complex, a complex that acts asa guanine exchange factor (GEF) for RAB32 and RAB38, promotes theexchange of GDP to GTP, converting them from an inactive GDP-boundform into an active GTP-bound form. The BLOC-3 complex plays animportant role in the control of melanin production and melanosomebiogenesis and promotes the membrane localization of RAB32 andRAB38 (PubMed:23084991). {ECO:0000269|PubMed:23084991}. Probable transcriptional regulator involved in thedevelopment of the skeleton of the limb, vertebral column andhead. Acts by controlling the number of mesenchymal precursorcells and chondrocytes (By similarity). {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 HPS1_TBX15


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 HPS1_TBX15


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


Top

RelatedDrugs for HPS1_TBX15


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 HPS1_TBX15


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTBX15C0018273Growth Disorders1CTD_human
TgeneTBX15C0027626Neoplasm Invasiveness1CTD_human
TgeneTBX15C0376634Craniofacial Abnormalities1CTD_human
TgeneTBX15C1850040Pelviscapular dysplasia1CTD_human;ORPHANET