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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: 18212

FusionGeneSummary for KAZN_FGF12

check button Fusion gene summary
Fusion gene informationFusion gene name: KAZN_FGF12
Fusion gene ID: 18212
HgeneTgene
Gene symbol

KAZN

FGF12

Gene ID

23254

2257

Gene namekazrin, periplakin interacting proteinfibroblast growth factor 12
SynonymsKAZEIEE47|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 date2018051920180519
UniProtAcc

Q674X7

P61328

Ensembl transtripts involved in fusion geneENST00000376030, ENST00000503743, 
ENST00000422387, ENST00000361144, 
ENST00000400798, ENST00000400797, 
ENST00000445105, ENST00000264730, 
ENST00000454309, ENST00000450716, 
ENST00000430714, ENST00000466144, 
Fusion gene scores* DoF score10 X 8 X 6=4805 X 3 X 5=75
# samples 125
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/75*10)=-0.584962500721156
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]

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

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
TCGALDLUSCTCGA-66-2790-01AKAZNchr1

14507087

+FGF12chr3

191888445

-
* 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
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

-

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FusionProtFeatures for KAZN_FGF12


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

Q674X7

FGF12

P61328

Involved in nervous system development and function.Involved in the positive regulation of voltage-gated sodiumchannel activity. Promotes neuronal excitability by elevating thevoltage dependence of neuronal sodium channel SCN8A fastinactivation. {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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FusionGeneSequence for KAZN_FGF12


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 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
KAZNPPL, ELAVL1, COIL, LZTS2, TRIM25FGF12MAPK13, MAPK8IP2, NEDD4, NEDD4L, APP, SRPK2, SRPK1, DACH1, DCTD, COIL, IKZF1, ZNF460, LZTS2, DPPA2, SMURF1, YWHAE


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 KAZN_FGF12


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 KAZN_FGF12


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