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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:KAZN-FGF12 (FusionGDB2 ID:41094)

Fusion Gene Summary for KAZN-FGF12

check button Fusion gene summary
Fusion gene informationFusion gene name: KAZN-FGF12
Fusion gene ID: 41094
HgeneTgene
Gene symbol

KAZN

FGF12

Gene ID

23254

2257

Gene namekazrin, periplakin interacting proteinfibroblast growth factor 12
SynonymsC1orf196|KAZEIEE47|FGF12B|FHF1
Cytomap

1p36.21

3q28-q29

Type of geneprotein-codingprotein-coding
Descriptionkazrinfibroblast growth factor 12fibroblast growth factor 12Bfibroblast growth factor FGF-12bfibroblast growth factor homologous factor 1myocyte-activating factor
Modification date2020031320200315
UniProtAcc

Q674X7

P61328

Ensembl transtripts involved in fusion geneENST00000376030, ENST00000503743, 
ENST00000422387, ENST00000361144, 
ENST00000400798, ENST00000400797, 
ENST00000445105, ENST00000264730, 
ENST00000454309, ENST00000450716, 
ENST00000430714, ENST00000466144, 
Fusion gene scores* DoF score15 X 11 X 8=132012 X 7 X 9=756
# samples 1814
** MAII scorelog2(18/1320*10)=-2.87446911791614
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/756*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KAZN [Title/Abstract] AND FGF12 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKAZN(14507087)-FGF12(191888445), # 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

check buttonFusion gene breakpoints across KAZN (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 FGF12 (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
ChimerDB4LUSCTCGA-66-2790-01AKAZNchr1

14507087

+FGF12chr3

191888445

-


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Fusion Gene ORF analysis for KAZN-FGF12

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
intron-3CDSENST00000376030ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000376030ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000376030ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000376030ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000376030ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000376030ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000503743ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000503743ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000503743ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000503743ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000503743ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000503743ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000422387ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000422387ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000422387ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000422387ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000422387ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000422387ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000361144ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000361144ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000361144ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000361144ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000361144ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000361144ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400798ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400798ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400798ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400798ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400798ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000400798ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400797ENST00000445105KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400797ENST00000264730KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400797ENST00000454309KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400797ENST00000450716KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-3CDSENST00000400797ENST00000430714KAZNchr1

14507087

+FGF12chr3

191888445

-
intron-intronENST00000400797ENST00000466144KAZNchr1

14507087

+FGF12chr3

191888445

-

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 KAZN-FGF12


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)

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.

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Fusion Protein Features for KAZN-FGF12


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

Q674X7

FGF12

P61328

FUNCTION: Component of the cornified envelope of keratinocytes. May be involved in the interplay between adherens junctions and desmosomes. The function in the nucleus is not known. {ECO:0000269|PubMed:15337775}.FUNCTION: Involved in nervous system development and function. Involved in the positive regulation of voltage-gated sodium channel activity. Promotes neuronal excitability by elevating the voltage dependence of neuronal sodium channel SCN8A fast inactivation. {ECO:0000269|PubMed:27164707}.

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 KAZN-FGF12


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 KAZN-FGF12


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 KAZN-FGF12


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 KAZN-FGF12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFGF12C4310685EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 473CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFGF12C0019209Hepatomegaly1CTD_human
TgeneFGF12C0543888Epileptic encephalopathy1GENOMICS_ENGLAND