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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KRIT1-GNGT1 (FusionGDB2 ID:43462)

Fusion Gene Summary for KRIT1-GNGT1

check button Fusion gene summary
Fusion gene informationFusion gene name: KRIT1-GNGT1
Fusion gene ID: 43462
HgeneTgene
Gene symbol

KRIT1

GNGT1

Gene ID

889

2792

Gene nameKRIT1 ankyrin repeat containingG protein subunit gamma transducin 1
SynonymsCAM|CCM1GNG1
Cytomap

7q21.2

7q21.3

Type of geneprotein-codingprotein-coding
Descriptionkrev interaction trapped protein 1ankyrin repeat-containing protein Krit1cerebral cavernous malformations 1 proteinkrev interaction trapped 1guanine nucleotide-binding protein G(T) subunit gamma-T1guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1transducin gamma chain
Modification date2020031320200313
UniProtAcc

O00522

P63211

Ensembl transtripts involved in fusion geneENST00000340022, ENST00000394503, 
ENST00000394505, ENST00000394507, 
ENST00000412043, ENST00000466166, 
ENST00000248572, ENST00000428834, 
ENST00000429473, ENST00000430875, 
ENST00000455502, 
Fusion gene scores* DoF score2 X 4 X 2=164 X 6 X 3=72
# samples 45
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/72*10)=-0.526068811667588
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KRIT1 [Title/Abstract] AND GNGT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKRIT1(91866981)-GNGT1(93536048), # samples:2
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across KRIT1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across GNGT1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-32-2615-01AKRIT1chr7

91866981

-GNGT1chr7

93536048

+
ChimerDB4GBMTCGA-32-2615-01AKRIT1chr7

91866981

-GNGT1chr7

93536051

+
ChimerDB4GBMTCGA-32-2615KRIT1chr7

91866980

-GNGT1chr7

93536047

+


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Fusion Gene ORF analysis for KRIT1-GNGT1

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-5UTRENST00000340022ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000340022ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000340022ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000340022ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000340022ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000340022ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000340022ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000340022ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000340022ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000340022ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000340022ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000340022ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000340022ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000340022ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000340022ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394503ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394503ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394503ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394503ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394503ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394503ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394503ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394503ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394503ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394503ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394503ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394503ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394503ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394503ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394503ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394505ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394505ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394505ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394505ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394505ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394505ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394505ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394505ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394505ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394505ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394505ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394505ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394505ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394505ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394505ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394507ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394507ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394507ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394507ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394507ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394507ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394507ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394507ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394507ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394507ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394507ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394507ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000394507ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000394507ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000394507ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000412043ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000412043ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000412043ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000412043ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000412043ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000412043ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000412043ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000412043ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000412043ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000412043ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000412043ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000412043ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
5CDS-5UTRENST00000412043ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
5CDS-5UTRENST00000412043ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
5CDS-5UTRENST00000412043ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+
intron-5UTRENST00000466166ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536048

+
intron-5UTRENST00000466166ENST00000248572KRIT1chr7

91866981

-GNGT1chr7

93536051

+
intron-5UTRENST00000466166ENST00000248572KRIT1chr7

91866980

-GNGT1chr7

93536047

+
intron-5UTRENST00000466166ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536048

+
intron-5UTRENST00000466166ENST00000428834KRIT1chr7

91866981

-GNGT1chr7

93536051

+
intron-5UTRENST00000466166ENST00000428834KRIT1chr7

91866980

-GNGT1chr7

93536047

+
intron-5UTRENST00000466166ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536048

+
intron-5UTRENST00000466166ENST00000429473KRIT1chr7

91866981

-GNGT1chr7

93536051

+
intron-5UTRENST00000466166ENST00000429473KRIT1chr7

91866980

-GNGT1chr7

93536047

+
intron-5UTRENST00000466166ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536048

+
intron-5UTRENST00000466166ENST00000430875KRIT1chr7

91866981

-GNGT1chr7

93536051

+
intron-5UTRENST00000466166ENST00000430875KRIT1chr7

91866980

-GNGT1chr7

93536047

+
intron-5UTRENST00000466166ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536048

+
intron-5UTRENST00000466166ENST00000455502KRIT1chr7

91866981

-GNGT1chr7

93536051

+
intron-5UTRENST00000466166ENST00000455502KRIT1chr7

91866980

-GNGT1chr7

93536047

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for KRIT1-GNGT1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
KRIT1chr791866980-GNGT1chr793536047+0.0026382640.9973617
KRIT1chr791866980-GNGT1chr793536047+0.0026382640.9973617
KRIT1chr791866980-GNGT1chr793536047+0.0026382640.9973617
KRIT1chr791866980-GNGT1chr793536047+0.0026382640.9973617

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for KRIT1-GNGT1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:91866981/:93536048)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KRIT1

O00522

GNGT1

P63211

FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. {ECO:0000250|UniProtKB:Q6S5J6, ECO:0000269|PubMed:11741838, ECO:0000269|PubMed:17916086, ECO:0000269|PubMed:20332120, ECO:0000269|PubMed:20616044, ECO:0000269|PubMed:20668652, ECO:0000269|PubMed:21633110, ECO:0000269|PubMed:23317506}.FUNCTION: Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction.

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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Fusion Gene Sequence for KRIT1-GNGT1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for KRIT1-GNGT1


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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Related Drugs for KRIT1-GNGT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KRIT1-GNGT1


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