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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: 31684

FusionGeneSummary for ROCK1_GATA6

check button Fusion gene summary
Fusion gene informationFusion gene name: ROCK1_GATA6
Fusion gene ID: 31684
HgeneTgene
Gene symbol

ROCK1

GATA6

Gene ID

6093

2627

Gene nameRho associated coiled-coil containing protein kinase 1GATA binding protein 6
SynonymsP160ROCK|ROCK-I-
Cytomap

18q11.1

18q11.2

Type of geneprotein-codingprotein-coding
Descriptionrho-associated protein kinase 1p160 ROCK-1renal carcinoma antigen NY-REN-35transcription factor GATA-6GATA-binding factor 6
Modification date2018052720180523
UniProtAcc

Q13464

Q92908

Ensembl transtripts involved in fusion geneENST00000399799, ENST00000269216, 
ENST00000581694, 
Fusion gene scores* DoF score21 X 11 X 11=25412 X 1 X 2=4
# samples 232
** MAII scorelog2(23/2541*10)=-3.46569060910898
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: ROCK1 [Title/Abstract] AND GATA6 [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
HgeneROCK1

GO:0007159

leukocyte cell-cell adhesion

12082081

HgeneROCK1

GO:0022614

membrane to membrane docking

12082081

HgeneROCK1

GO:0032091

negative regulation of protein binding

18573880

HgeneROCK1

GO:0032956

regulation of actin cytoskeleton organization

25911094

HgeneROCK1

GO:0050900

leukocyte migration

12082081

HgeneROCK1

GO:0050901

leukocyte tethering or rolling

12082081

TgeneGATA6

GO:0000122

negative regulation of transcription by RNA polymerase II

18177748

TgeneGATA6

GO:0006366

transcription by RNA polymerase II

19666519

TgeneGATA6

GO:0045766

positive regulation of angiogenesis

21127043

TgeneGATA6

GO:0045892

negative regulation of transcription, DNA-templated

18177748

TgeneGATA6

GO:0060575

intestinal epithelial cell differentiation

9566909

TgeneGATA6

GO:0070848

response to growth factor

21127043

TgeneGATA6

GO:0071158

positive regulation of cell cycle arrest

9593712

TgeneGATA6

GO:0071456

cellular response to hypoxia

21127043

TgeneGATA6

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
TCGARVLUADTCGA-44-A47G-01AROCK1chr18

18690779

-GATA6chr18

19780619

+
* 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-shitENST00000399799ENST00000269216ROCK1chr18

18690779

-GATA6chr18

19780619

+
In-frameENST00000399799ENST00000581694ROCK1chr18

18690779

-GATA6chr18

19780619

+

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FusionProtFeatures for ROCK1_GATA6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ROCK1

Q13464

GATA6

Q92908

Protein kinase which is a key regulator of actincytoskeleton and cell polarity. Involved in regulation of smoothmuscle contraction, actin cytoskeleton organization, stress fiberand focal adhesion formation, neurite retraction, cell adhesionand motility via phosphorylation of DAPK3, GFAP, LIMK1, LIMK2,MYL9/MLC2, PFN1 and PPP1R12A. Phosphorylates FHOD1 and actssynergistically with it to promote SRC-dependent non-apoptoticplasma membrane blebbing. Phosphorylates JIP3 and regulates therecruitment of JNK to JIP3 upon UVB-induced stress. Acts as asuppressor of inflammatory cell migration by regulating PTENphosphorylation and stability. Acts as a negative regulator ofVEGF-induced angiogenic endothelial cell activation. Required forcentrosome positioning and centrosome-dependent exit from mitosis.Plays a role in terminal erythroid differentiation. May regulateclosure of the eyelids and ventral body wall by inducing theassembly of actomyosin bundles. Promotes keratinocyte terminaldifferentiation. Involved in osteoblast compaction through thefibronectin fibrillogenesis cell-mediated matrix assembly process,essential for osteoblast mineralization.{ECO:0000269|PubMed:10436159, ECO:0000269|PubMed:10652353,ECO:0000269|PubMed:11018042, ECO:0000269|PubMed:11283607,ECO:0000269|PubMed:17158456, ECO:0000269|PubMed:18573880,ECO:0000269|PubMed:18694941, ECO:0000269|PubMed:19036714,ECO:0000269|PubMed:19131646, ECO:0000269|PubMed:19181962,ECO:0000269|PubMed:19997641, ECO:0000269|PubMed:21072057,ECO:0000269|PubMed:8617235, ECO:0000269|PubMed:9722579}. 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}.

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 ROCK1_GATA6


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.
>In-frame_ROCK1_ENST00000399799_chr18_18690779_-_GATA6_ENST00000581694_chr18_19780619_+_87aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ROCK1_ENST00000399799_chr18_18690779_-_GATA6_ENST00000581694_chr18_19780619_+_261nt
ATGTCGACTGGGGACAGTTTTGAGACTCGATTTGAAAAAATGGACAACCTGCTGCGGGATCCCAAATCGGAAGTGAATTCGGATTGTTTG
CTGGCGGGTGCCCCGGTGATGACTGGTGCGGGAGAGAGCACCAATCCCGAGAACAGCGAGCTCAAGTATTCGGGTCAAGATGGGCTCTAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_ROCK1_ENST00000399799_chr18_18690779_-_GATA6_ENST00000581694_chr18_19780619_+_1259nt
GCTGGTTCCCCTTCCGAGCGTCCGCGCCCCGCATGCGCAGTCTGCCCCGGCGGTCTCCGTTTGTTTGAACAGGAAGGCGGACATATTAGT
CCCTCTCAGCCCCCCTCGCCCCACCCCCCAGGCATTCGCCGCCGCGACTCGCCCTTTCCCCGGCTGGGACCGCAGCCCCTCCCAGAAGCT
CCCCCATCAGCAGCCGCCGGGACCCAACTATCGTCTTCCTCTTCGCCCGCTCTCCAGCCTTTCCTCTGCTAAGTCTCCATCGGGCATCGA
CCTCGCCCTGCCCCACCGGACACCGTAGCAGCAGCCCCAGCAGCGACGGGACAAAATGGGAGAGTGAGGCTGTCCTGCGTGGACCAGCTC
GTGGCCGAGACTGATCGGTGCGTCGGGCCGGGCCGAGTAGAGCCGGGGACGCGGGGCTAGACCGTCTACAGCGCCTCTGAGCGGAGCGGG
CCCGGCCCGTGGCCCGAGCGGCGGCCGCAGCTGGCACAGCTCCTCACCCGCCCTTTGCTTTCGCCTTTCCTCTTCTCCCTCCCTTGTTGC
CCGGAGGGAGTCTCCACCCTGCTTCTCTTTCTCTACCCGCTCCTGCCCATCTCGGGACGGGGACCCCTCCATGGCGACGGCGGCCGGGGC
CCGCTAGACTGAAGCACCTCGCCGGAGCGACGAGGCTGGTGGCGACGGCGCTGTCGGCTGTCGTGAGGGGCTGCCGGGTGGGATGCGACT
TTGGGCGTCCGAGCGGCTGTGGGTCGCTGTTGCCCCCGGCCCGGGGTCTGGAGAGCGGAGGTCCCCTCAGTGAGGGGAAGACGGGGGAAC
CGGGCGCACCTGGTGACCCTGAGGTTCCGGCTCCTCCGCCCCGCGGCTGCGAACCCACCGCGGAGGAAGTTGGTTGAAATTGCTTTCCGC
TGCTGGTGCTGGTAAGAGGGCATTGTCACAGCAGCAGCAACATGTCGACTGGGGACAGTTTTGAGACTCGATTTGAAAAAATGGACAACC
TGCTGCGGGATCCCAAATCGGAAGTGAATTCGGATTGTTTGCTGGCGGGTGCCCCGGTGATGACTGGTGCGGGAGAGAGCACCAATCCCG
AGAACAGCGAGCTCAAGTATTCGGGTCAAGATGGGCTCTACATAGGCGTCAGTCTCGCCTCGCCGGCCGAAGTCACGTCCTCCGTGCGAC


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FusionGenePPI for ROCK1_GATA6


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
ROCK1CDC25A, PFN2, RHOA, RND3, GAB1, CFL1, LIMK2, HNRNPA1, ITSN2, ARRB1, TSG101, NOTCH1, SMURF1, SMAD2, CASP3, CASP7, CDK15, ANKFY1, MON2, FAM21A, KIAA1033, IKBKB, LMO2, MAGEB4, POLR3C, C6orf165, FAM124A, NXF1, NTRK1, MED23, XRCC5, NEIL3, TRIM15, HGS, SLC9A1, UBE2T, CDKN3, TENC1, ROCK2, ADD2, IL20RA, CYLDGATA6EP300, KLF2, SP1, CDK9, KPNA3, KRAS, EWSR1


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 ROCK1_GATA6


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 ROCK1_GATA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneGATA6C0019284Diaphragmatic Hernia1CTD_human
TgeneGATA6C0024121Lung Neoplasms1CTD_human
TgeneGATA6C1857586CONOTRUNCAL HEART MALFORMATIONS (disorder)1UNIPROT
TgeneGATA6C3280939ATRIOVENTRICULAR SEPTAL DEFECT 51UNIPROT
TgeneGATA6C3280943ATRIAL SEPTAL DEFECT 91UNIPROT
TgeneGATA6C4012454HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES1UNIPROT