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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: 33336

FusionGeneSummary for SERTAD2_DEFB124

check button Fusion gene summary
Fusion gene informationFusion gene name: SERTAD2_DEFB124
Fusion gene ID: 33336
HgeneTgene
Gene symbol

SERTAD2

DEFB124

Gene ID

9792

245937

Gene nameSERTA domain containing 2defensin beta 124
SynonymsSei-2|TRIP-Br2|TRIPBR2DEFB-24
Cytomap

2p14

20q11.21

Type of geneprotein-codingprotein-coding
DescriptionSERTA domain-containing protein 2transcriptional regulator interacting with the PHD-bromodomain 2transcriptional regulator interacting with the PHS-bromodomain 2beta-defensin 124beta-defensin 24defensin, beta 24
Modification date2018051920180329
UniProtAcc

Q14140

Q8NES8

Ensembl transtripts involved in fusion geneENST00000313349, ENST00000476805, 
ENST00000317676, ENST00000481595, 
Fusion gene scores* DoF score3 X 1 X 3=91 X 1 X 1=1
# samples 31
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: SERTAD2 [Title/Abstract] AND DEFB124 [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
HgeneSERTAD2

GO:0030308

negative regulation of cell growth

16098148


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
TCGALDDLBCTCGA-FF-8043-01ASERTAD2chr2

64977415

-DEFB124chr20

30060841

-
* 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-intronENST00000313349ENST00000317676SERTAD2chr2

64977415

-DEFB124chr20

30060841

-
intron-5UTRENST00000313349ENST00000481595SERTAD2chr2

64977415

-DEFB124chr20

30060841

-
5UTR-intronENST00000476805ENST00000317676SERTAD2chr2

64977415

-DEFB124chr20

30060841

-
5UTR-5UTRENST00000476805ENST00000481595SERTAD2chr2

64977415

-DEFB124chr20

30060841

-

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FusionProtFeatures for SERTAD2_DEFB124


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SERTAD2

Q14140

DEFB124

Q8NES8

Acts at E2F-responsive promoters as coregulator tointegrate signals provided by PHD- and/or bromodomain-containingtranscription factors. May act as coactivator as well ascorepressor of E2F1-TFDP1 and E2F4-TFDP1 complexes on E2Fconsensus binding sites, which would activate or inhibit E2F-target genes expression. Modulates fat storage by down-regulatingthe expression of key genes involved in adipocyte lipolysis,thermogenesis and oxidative metabolism.{ECO:0000269|PubMed:11331592}. Has antibacterial activity. {ECO:0000305}.

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 SERTAD2_DEFB124


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 SERTAD2_DEFB124


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
SERTAD2KAT2B, SUPT7L, TRIM28, XPO1, ELAVL1, TRIM25DEFB124


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 SERTAD2_DEFB124


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 SERTAD2_DEFB124


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource