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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: 37506

FusionGeneSummary for TBX15_AP4B1

check button Fusion gene summary
Fusion gene informationFusion gene name: TBX15_AP4B1
Fusion gene ID: 37506
HgeneTgene
Gene symbol

TBX15

AP4B1

Gene ID

6913

10717

Gene nameT-box 15adaptor related protein complex 4 subunit beta 1
SynonymsTBX14BETA-4|CPSQ5|SPG47
Cytomap

1p12

1p13.2

Type of geneprotein-codingprotein-coding
DescriptionT-box transcription factor TBX15T-box 14T-box protein 14T-box protein 15T-box transcription factor TBX14AP-4 complex subunit beta-1AP-4 adaptor complex subunit betaadaptor related protein complex 4 beta 1 subunitbeta 4 subunit of AP-4beta4-adaptinspastic paraplegia 47
Modification date2018052220180519
UniProtAcc

Q96SF7

Q9Y6B7

Ensembl transtripts involved in fusion geneENST00000207157, ENST00000369429, 
ENST00000369567, ENST00000369569, 
ENST00000256658, ENST00000462591, 
ENST00000369566, 
Fusion gene scores* DoF score3 X 1 X 2=61 X 1 X 1=1
# samples 21
** MAII scorelog2(2/6*10)=1.73696559416621log2(1/1*10)=3.32192809488736
Context

PubMed: TBX15 [Title/Abstract] AND AP4B1 [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

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
TCGARVSKCMTCGA-D3-A8GJ-06ATBX15chr1

119530214

-AP4B1chr1

114447415

-
* 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-5UTRENST00000207157ENST00000369567TBX15chr1

119530214

-AP4B1chr1

114447415

-
intron-5UTRENST00000207157ENST00000369569TBX15chr1

119530214

-AP4B1chr1

114447415

-
intron-5UTRENST00000207157ENST00000256658TBX15chr1

119530214

-AP4B1chr1

114447415

-
intron-intronENST00000207157ENST00000462591TBX15chr1

119530214

-AP4B1chr1

114447415

-
intron-5UTRENST00000207157ENST00000369566TBX15chr1

119530214

-AP4B1chr1

114447415

-
5CDS-5UTRENST00000369429ENST00000369567TBX15chr1

119530214

-AP4B1chr1

114447415

-
5CDS-5UTRENST00000369429ENST00000369569TBX15chr1

119530214

-AP4B1chr1

114447415

-
5CDS-5UTRENST00000369429ENST00000256658TBX15chr1

119530214

-AP4B1chr1

114447415

-
5CDS-intronENST00000369429ENST00000462591TBX15chr1

119530214

-AP4B1chr1

114447415

-
5CDS-5UTRENST00000369429ENST00000369566TBX15chr1

119530214

-AP4B1chr1

114447415

-

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FusionProtFeatures for TBX15_AP4B1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBX15

Q96SF7

AP4B1

Q9Y6B7

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}. Component of the adaptor protein complex 4 (AP-4).Adaptor protein complexes are vesicle coat components involvedboth in vesicle formation and cargo selection. They control thevesicular transport of proteins in different trafficking pathways(PubMed:10066790, PubMed:10436028). AP-4 forms a non clathrin-associated coat on vesicles departing the trans-Golgi network(TGN) and may be involved in the targeting of proteins from thetrans-Golgi network (TGN) to the endosomal-lysosomal system. It isalso involved in protein sorting to the basolateral membrane inepithelial cells and the proper asymmetric localization ofsomatodendritic proteins in neurons. AP-4 is involved in therecognition and binding of tyrosine-based sorting signals found inthe cytoplasmic part of cargos, but may also recognize other typesof sorting signal (Probable). {ECO:0000269|PubMed:10066790,ECO:0000269|PubMed:10436028, ECO:0000305|PubMed:10066790,ECO:0000305|PubMed:10436028}.

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 TBX15_AP4B1


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 TBX15_AP4B1


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
TBX15POLE2, ATXN1, TBX15, VENTXAP4B1AP4E1, FIBP, AP4M1, ZNF576, POC1A, TMEM17, XPO1, AP4S1


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 TBX15_AP4B1


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 TBX15_AP4B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTBX15C0018273Growth Disorders1CTD_human
HgeneTBX15C0027626Neoplasm Invasiveness1CTD_human
HgeneTBX15C0376634Craniofacial Abnormalities1CTD_human
HgeneTBX15C1850040Pelviscapular dysplasia1CTD_human;ORPHANET