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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:KCTD7-CST3 (FusionGDB2 ID:HG154881TG1471)

Fusion Gene Summary for KCTD7-CST3

check button Fusion gene summary
Fusion gene informationFusion gene name: KCTD7-CST3
Fusion gene ID: hg154881tg1471
HgeneTgene
Gene symbol

KCTD7

CST3

Gene ID

154881

1471

Gene namepotassium channel tetramerization domain containing 7cystatin C
SynonymsCLN14|EPM3ARMD11|HEL-S-2
Cytomap('KCTD7')('CST3')

7q11.21

20p11.21

Type of geneprotein-codingprotein-coding
DescriptionBTB/POZ domain-containing protein KCTD7potassium channel tetramerisation domain containing 7cystatin-CbA218C14.4 (cystatin C)cystatin 3epididymis secretory protein Li 2gamma-traceneuroendocrine basic polypeptidepost-gamma-globulin
Modification date2020032820200322
UniProtAcc

Q96MP8

P01034

Ensembl transtripts involved in fusion geneENST00000275532, ENST00000380828, 
ENST00000443322, ENST00000451741, 
ENST00000510829, 
Fusion gene scores* DoF score7 X 6 X 3=1265 X 4 X 1=20
# samples 75
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KCTD7 [Title/Abstract] AND CST3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKCTD7(66107811)-CST3(23614549), # samples:1
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
TgeneCST3

GO:0006952

defense response

6203523

TgeneCST3

GO:0010466

negative regulation of peptidase activity

6203523|7890620|18256700

TgeneCST3

GO:0045861

negative regulation of proteolysis

3488317



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
ChiTaRS5.0N/ABM662819KCTD7chr7

66107811

-CST3chr20

23614549

+


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Fusion Gene ORF analysis for KCTD7-CST3

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
3UTR-3UTRENST00000275532ENST00000376925KCTD7chr7

66107811

-CST3chr20

23614549

+
3UTR-3UTRENST00000275532ENST00000398409KCTD7chr7

66107811

-CST3chr20

23614549

+
3UTR-intronENST00000275532ENST00000398411KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000380828ENST00000376925KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000380828ENST00000398409KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000443322ENST00000376925KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000443322ENST00000398409KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000451741ENST00000376925KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000451741ENST00000398409KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000510829ENST00000376925KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-3UTRENST00000510829ENST00000398409KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-intronENST00000380828ENST00000398411KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-intronENST00000443322ENST00000398411KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-intronENST00000451741ENST00000398411KCTD7chr7

66107811

-CST3chr20

23614549

+
intron-intronENST00000510829ENST00000398411KCTD7chr7

66107811

-CST3chr20

23614549

+

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 KCTD7-CST3


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)


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Fusion Protein Features for KCTD7-CST3


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/:66107811/:23614549)
- 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
KCTD7

Q96MP8

CST3

P01034

FUNCTION: May be involved in the control of excitability of cortical neurons. {ECO:0000250}.FUNCTION: As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.

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 KCTD7-CST3


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 KCTD7-CST3


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 KCTD7-CST3


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 KCTD7-CST3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKCTD7C2673257EPILEPSY, PROGRESSIVE MYOCLONIC 35CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneKCTD7C0027877Neuronal Ceroid-Lipofuscinoses1GENOMICS_ENGLAND
TgeneC1527338Hereditary Cerebral Amyloid Angiopathy, Icelandic Type5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC2677774Age-Related Macular Degeneration type 113CTD_human;UNIPROT
TgeneC0002395Alzheimer's Disease2CTD_human
TgeneC0011265Presenile dementia2CTD_human
TgeneC0022658Kidney Diseases2CTD_human
TgeneC0022660Kidney Failure, Acute2CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)2CTD_human
TgeneC0494463Alzheimer Disease, Late Onset2CTD_human
TgeneC0546126Acute Confusional Senile Dementia2CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset2CTD_human
TgeneC0750901Alzheimer Disease, Early Onset2CTD_human
TgeneC1565662Acute Kidney Insufficiency2CTD_human
TgeneC2609414Acute kidney injury2CTD_human
TgeneC0007222Cardiovascular Diseases1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0025286Meningioma1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0029172Oral Submucous Fibrosis1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0205834Meningiomas, Multiple1CTD_human
TgeneC0259785Malignant Meningioma1CTD_human
TgeneC0268393Familial Cerebral Amyloid Angiopathy1CTD_human
TgeneC0281784Benign Meningioma1CTD_human
TgeneC0334605Meningothelial meningioma1CTD_human
TgeneC0334606Fibrous Meningioma1CTD_human
TgeneC0334607Psammomatous Meningioma1CTD_human
TgeneC0334608Angiomatous Meningioma1CTD_human
TgeneC0334609Hemangioblastic Meningioma1CTD_human
TgeneC0334610Hemangiopericytic Meningioma1CTD_human
TgeneC0334611Transitional Meningioma1CTD_human
TgeneC0347515Spinal Meningioma1CTD_human
TgeneC0349604Intracranial Meningioma1CTD_human
TgeneC0431121Clear Cell Meningioma1CTD_human
TgeneC0457190Xanthomatous Meningioma1CTD_human
TgeneC0751303Cerebral Convexity Meningioma1CTD_human
TgeneC0751304Parasagittal Meningioma1CTD_human
TgeneC1334261Intraorbital Meningioma1CTD_human
TgeneC1334271Intraventricular Meningioma1CTD_human
TgeneC1335107Olfactory Groove Meningioma1CTD_human
TgeneC1384406Secretory meningioma1CTD_human
TgeneC1384408Microcystic meningioma1CTD_human
TgeneC1510489Cerebral Amyloid Angiopathy, Hereditary1CTD_human
TgeneC1527197Angioblastic Meningioma1CTD_human
TgeneC1565950Posterior Fossa Meningioma1CTD_human
TgeneC1565951Sphenoid Wing Meningioma1CTD_human
TgeneC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC1956349Cerebral Amyloid Angiopathy, Genetic1CTD_human
TgeneC3163622Papillary Meningioma1CTD_human
TgeneC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human