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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: 14429

FusionGeneSummary for GATA6_RBBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: GATA6_RBBP8
Fusion gene ID: 14429
HgeneTgene
Gene symbol

GATA6

RBBP8

Gene ID

2627

5932

Gene nameGATA binding protein 6RB binding protein 8, endonuclease
Synonyms-COM1|CTIP|JWDS|RIM|SAE2|SCKL2
Cytomap

18q11.2

18q11.2

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor GATA-6GATA-binding factor 6DNA endonuclease RBBP8CTBP-interacting proteinRBBP-8retinoblastoma binding protein 8sporulation in the absence of SPO11 protein 2 homolog
Modification date2018052320180523
UniProtAcc

Q92908

Q99708

Ensembl transtripts involved in fusion geneENST00000269216, ENST00000581694, 
ENST00000327155, ENST00000399722, 
ENST00000399725, ENST00000360790, 
ENST00000581687, 
Fusion gene scores* DoF score3 X 3 X 3=278 X 8 X 5=320
# samples 311
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/320*10)=-1.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GATA6 [Title/Abstract] AND RBBP8 [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

TgeneRBBP8

GO:0000724

double-strand break repair via homologous recombination

20829486


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
TCGALDLIHCTCGA-DD-A11C-01AGATA6chr18

19763004

+RBBP8chr18

20491563

+
* 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
5CDS-intronENST00000269216ENST00000327155GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000269216ENST00000399722GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000269216ENST00000399725GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000269216ENST00000360790GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000269216ENST00000581687GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000581694ENST00000327155GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000581694ENST00000399722GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000581694ENST00000399725GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000581694ENST00000360790GATA6chr18

19763004

+RBBP8chr18

20491563

+
5CDS-intronENST00000581694ENST00000581687GATA6chr18

19763004

+RBBP8chr18

20491563

+

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FusionProtFeatures for GATA6_RBBP8


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

Q92908

RBBP8

Q99708

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}. Endonuclease that cooperates with the MRE11-RAD50-NBN(MRN) complex in DNA-end resection, the first step of double-strand break (DSB) repair through the homologous recombination(HR) pathway. HR is restricted to S and G2 phases of the cellcycle and preferentially repairs DSBs resulting from replicationfork collapse. Key determinant of DSB repair pathway choice, as itcommits cells to HR by preventing classical non-homologous end-joining (NHEJ). Functions downstream of the MRN complex and ATM,promotes ATR activation and its recruitment to DSBs in the S/G2phase facilitating the generation of ssDNA. Component of theBRCA1-RBBP8 complex that regulates CHEK1 activation and controlscell cycle G2/M checkpoints on DNA damage (PubMed:10764811,PubMed:10910365, PubMed:15485915, PubMed:16581787,PubMed:16818604, PubMed:17965729, PubMed:19202191,PubMed:19759395, PubMed:20064462, PubMed:20829486). Duringimmunoglobulin heavy chain class-switch recombination, promotesmicrohomology-mediated alternative end joining (A-NHEJ) and playsan essential role in chromosomal translocations (By similarity).{ECO:0000250|UniProtKB:Q80YR6, ECO:0000269|PubMed:10764811,ECO:0000269|PubMed:10910365, ECO:0000269|PubMed:15485915,ECO:0000269|PubMed:16581787, ECO:0000269|PubMed:16818604,ECO:0000269|PubMed:17965729, ECO:0000269|PubMed:19202191,ECO:0000269|PubMed:19759395, ECO:0000269|PubMed:20064462,ECO:0000269|PubMed:20829486}.

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_RBBP8


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_RBBP8


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, EWSR1RBBP8RBL1, LMO4, LIMS1, HID1, FXR2, PIN1, WDYHV1, ATM, BRCA1, CTBP1, RBBP8, RB1, PRKDC, SIAH1, SIAH2, IKZF1, RBL2, BARD1, RAD50, SPEN, PALB2, UIMC1, ZNF350, NBN, PCNA, CTBP2, EEF1A1, CLU, IGFBP7, RAF1, MAP2K4, IKBKG, RGS17, PRRG4, TMEM54, MDM2, LMO1, FZR1, MRE11A, FANCD2, PLK1, THOC2, KIF7, USP4, DNA2, EXD2, EXO1, BRIX1, DEFA1, XRCC1, SCOC, ERP44, UBC, KLHL15, CUL3, POLN


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_RBBP8


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_RBBP8


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
TgeneRBBP8C1847572SECKEL SYNDROME 21UNIPROT