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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: 31176

FusionGeneSummary for RHOBTB1_TFAP2A

check button Fusion gene summary
Fusion gene informationFusion gene name: RHOBTB1_TFAP2A
Fusion gene ID: 31176
HgeneTgene
Gene symbol

RHOBTB1

TFAP2A

Gene ID

9886

7020

Gene nameRho related BTB domain containing 1transcription factor AP-2 alpha
Synonyms-AP-2|AP-2alpha|AP2TF|BOFS|TFAP2
Cytomap

10q21.2

6p24.3

Type of geneprotein-codingprotein-coding
Descriptionrho-related BTB domain-containing protein 1transcription factor AP-2-alphaAP-2 transcription factorAP2-alphaactivating enhancer-binding protein 2-alphaactivator protein 2transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Modification date2018052320180527
UniProtAcc

O94844

P05549

Ensembl transtripts involved in fusion geneENST00000337910, ENST00000357917, 
ENST00000490827, 
ENST00000379613, 
ENST00000379604, ENST00000319516, 
ENST00000379608, ENST00000482890, 
ENST00000497266, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 3=48
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RHOBTB1 [Title/Abstract] AND TFAP2A [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
TgeneTFAP2A

GO:0000122

negative regulation of transcription by RNA polymerase II

8321221|9520389|20066163

TgeneTFAP2A

GO:0008285

negative regulation of cell proliferation

20607706

TgeneTFAP2A

GO:0030501

positive regulation of bone mineralization

19578371

TgeneTFAP2A

GO:0043066

negative regulation of apoptotic process

20066163

TgeneTFAP2A

GO:0043525

positive regulation of neuron apoptotic process

20607706

TgeneTFAP2A

GO:0045595

regulation of cell differentiation

20607706

TgeneTFAP2A

GO:0045892

negative regulation of transcription, DNA-templated

20607706

TgeneTFAP2A

GO:0045893

positive regulation of transcription, DNA-templated

12586840

TgeneTFAP2A

GO:0045944

positive regulation of transcription by RNA polymerase II

7555706|7559606|11278550|20808827

TgeneTFAP2A

GO:0070172

positive regulation of tooth mineralization

19578371

TgeneTFAP2A

GO:0071281

cellular response to iron ion

20808827

TgeneTFAP2A

GO:2000378

negative regulation of reactive oxygen species metabolic process

20066163


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
ChiTaRS3.1R77613RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
* 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-3UTRENST00000337910ENST00000379613RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000337910ENST00000379604RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000337910ENST00000319516RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000337910ENST00000379608RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000337910ENST00000482890RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000337910ENST00000497266RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000357917ENST00000379613RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000357917ENST00000379604RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000357917ENST00000319516RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000357917ENST00000379608RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000357917ENST00000482890RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000357917ENST00000497266RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000490827ENST00000379613RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000490827ENST00000379604RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000490827ENST00000319516RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-3UTRENST00000490827ENST00000379608RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000490827ENST00000482890RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-
intron-intronENST00000490827ENST00000497266RHOBTB1chr10

62633289

-TFAP2Achr6

10398214

-

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FusionProtFeatures for RHOBTB1_TFAP2A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RHOBTB1

O94844

TFAP2A

P05549

Sequence-specific DNA-binding protein that interactswith inducible viral and cellular enhancer elements to regulatetranscription of selected genes. AP-2 factors bind to theconsensus sequence 5'-GCCNNNGGC-3' and activate genes involved ina large spectrum of important biological functions includingproper eye, face, body wall, limb and neural tube development.They also suppress a number of genes including MCAM/MUC18, C/EBPalpha and MYC. AP-2-alpha is the only AP-2 protein required forearly morphogenesis of the lens vesicle. Together with the CITED2coactivator, stimulates the PITX2 P1 promoter transcriptionactivation. Associates with chromatin to the PITX2 P1 promoterregion. {ECO:0000269|PubMed:11694877,ECO:0000269|PubMed:12586840}.

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 RHOBTB1_TFAP2A


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 RHOBTB1_TFAP2A


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 RHOBTB1_TFAP2A


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 RHOBTB1_TFAP2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRHOBTB1C3495559Juvenile arthritis1CTD_human
TgeneTFAP2AC0376634Craniofacial Abnormalities2CTD_human
TgeneTFAP2AC0015393Eye Abnormalities1CTD_human
TgeneTFAP2AC0022658Kidney Diseases1CTD_human
TgeneTFAP2AC0036341Schizophrenia1PSYGENET
TgeneTFAP2AC0265234Branchio-Oto-Renal Syndrome1CTD_human
TgeneTFAP2AC0376524Branchio-Oculo-Facial Syndrome1ORPHANET;UNIPROT
TgeneTFAP2AC1458155Mammary Neoplasms1CTD_human