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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: 14428

FusionGeneSummary for GATA6_DPF1

check button Fusion gene summary
Fusion gene informationFusion gene name: GATA6_DPF1
Fusion gene ID: 14428
HgeneTgene
Gene symbol

GATA6

DPF1

Gene ID

2627

8193

Gene nameGATA binding protein 6double PHD fingers 1
Synonyms-BAF45b|NEUD4|neuro-d4
Cytomap

18q11.2

19q13.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor GATA-6GATA-binding factor 6zinc finger protein neuro-d4BRG1-associated factor 45BD4, zinc and double PHD fingers family 1neuro-d4 homolog
Modification date2018052320180524
UniProtAcc

Q92908

Q92782

Ensembl transtripts involved in fusion geneENST00000269216, ENST00000581694, 
ENST00000420980, ENST00000412732, 
ENST00000416611, ENST00000414789, 
ENST00000355526, ENST00000456296, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 2 X 6=72
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GATA6 [Title/Abstract] AND DPF1 [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
HgeneGATA6

GO:0000122

negative regulation of transcription by RNA polymerase II

18177748

HgeneGATA6

GO:0006366

transcription by RNA polymerase II

19666519

HgeneGATA6

GO:0045766

positive regulation of angiogenesis

21127043

HgeneGATA6

GO:0045892

negative regulation of transcription, DNA-templated

18177748

HgeneGATA6

GO:0060575

intestinal epithelial cell differentiation

9566909

HgeneGATA6

GO:0070848

response to growth factor

21127043

HgeneGATA6

GO:0071158

positive regulation of cell cycle arrest

9593712

HgeneGATA6

GO:0071456

cellular response to hypoxia

21127043

HgeneGATA6

GO:0110024

positive regulation of cardiac muscle myoblast proliferation

25068583


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
TCGARVSTADTCGA-HU-8243-01AGATA6chr18

19752240

+DPF1chr19

38713348

-
* 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
Frame-shitENST00000269216ENST00000420980GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000269216ENST00000412732GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000269216ENST00000416611GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000269216ENST00000414789GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000269216ENST00000355526GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000269216ENST00000456296GATA6chr18

19752240

+DPF1chr19

38713348

-
Frame-shitENST00000581694ENST00000420980GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000581694ENST00000412732GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000581694ENST00000416611GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000581694ENST00000414789GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000581694ENST00000355526GATA6chr18

19752240

+DPF1chr19

38713348

-
5CDS-5UTRENST00000581694ENST00000456296GATA6chr18

19752240

+DPF1chr19

38713348

-

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FusionProtFeatures for GATA6_DPF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GATA6

Q92908

DPF1

Q92782

Transcriptional activator (PubMed:19666519,PubMed:27756709, PubMed:22750565, PubMed:22824924). RegulatesSEMA3C and PLXNA2 (PubMed:19666519). Involved in gene regulationspecifically in the gastric epithelium (PubMed:9315713). Mayregulate genes that protect epithelial cells from bacterialinfection (PubMed:16968778). Involved in bone morphogeneticprotein (BMP)-mediated cardiac-specific gene expression (Bysimilarity). Binds to BMP response element (BMPRE) DNA sequenceswithin cardiac activating regions (By similarity).{ECO:0000250|UniProtKB:Q61169, ECO:0000269|PubMed:16968778,ECO:0000269|PubMed:19666519, ECO:0000269|PubMed:22750565,ECO:0000269|PubMed:22824924, ECO:0000269|PubMed:27756709,ECO:0000269|PubMed:9315713}. May have an important role in developing neurons byparticipating in regulation of cell survival, possibly as aneurospecific transcription factor. Belongs to the neuron-specificchromatin remodeling complex (nBAF complex). During neuraldevelopment a switch from a stem/progenitor to a post-mitoticchromatin remodeling mechanism occurs as neurons exit the cellcycle and become committed to their adult state. The transitionfrom proliferating neural stem/progenitor cells to post-mitoticneurons requires a switch in subunit composition of the npBAF andnBAF complexes. As neural progenitors exit mitosis anddifferentiate into neurons, npBAF complexes which containACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunitsin neuron-specific complexes (nBAF). The npBAF complex isessential for the self-renewal/proliferative capacity of themultipotent neural stem cells. The nBAF complex along with CRESTplays a role regulating the activity of genes essential fordendrite growth (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


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FusionGeneSequence for GATA6_DPF1


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 GATA6_DPF1


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
GATA6EP300, KLF2, SP1, CDK9, KPNA3, KRAS, EWSR1DPF1SMARCA2, SMARCA4, SMARCC1, RELA, NFKB1, SMARCE1, SMARCB1, SS18, SMARCD1, SMARCC2, BCL7C, BCL7A, AR


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 GATA6_DPF1


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 GATA6_DPF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGATA6C0019284Diaphragmatic Hernia1CTD_human
HgeneGATA6C0024121Lung Neoplasms1CTD_human
HgeneGATA6C1857586CONOTRUNCAL HEART MALFORMATIONS (disorder)1UNIPROT
HgeneGATA6C3280939ATRIOVENTRICULAR SEPTAL DEFECT 51UNIPROT
HgeneGATA6C3280943ATRIAL SEPTAL DEFECT 91UNIPROT
HgeneGATA6C4012454HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES1UNIPROT