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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: 18211

FusionGeneSummary for KAZN_COL12A1

check button Fusion gene summary
Fusion gene informationFusion gene name: KAZN_COL12A1
Fusion gene ID: 18211
HgeneTgene
Gene symbol

KAZN

COL12A1

Gene ID

23254

1303

Gene namekazrin, periplakin interacting proteincollagen type XII alpha 1 chain
SynonymsKAZBA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2
Cytomap

1p36.21

6q13-q14.1

Type of geneprotein-codingprotein-coding
Descriptionkazrincollagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1
Modification date2018051920180523
UniProtAcc

Q674X7

Q99715

Ensembl transtripts involved in fusion geneENST00000376030, ENST00000503743, 
ENST00000422387, ENST00000361144, 
ENST00000400798, ENST00000400797, 
ENST00000322507, ENST00000345356, 
ENST00000416123, ENST00000483888, 
ENST00000511023, 
Fusion gene scores* DoF score10 X 8 X 6=4807 X 9 X 2=126
# samples 129
** MAII scorelog2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/126*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KAZN [Title/Abstract] AND COL12A1 [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
ChiTaRS3.1BF108734KAZNchr1

15444068

-COL12A1chr6

75829120

+
* 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
3UTR-3CDSENST00000376030ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
3UTR-3CDSENST00000376030ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
3UTR-3CDSENST00000376030ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
3UTR-3CDSENST00000376030ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
3UTR-intronENST00000376030ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000503743ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000503743ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000503743ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000503743ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-intronENST00000503743ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000422387ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000422387ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000422387ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000422387ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-intronENST00000422387ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000361144ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000361144ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000361144ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000361144ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-intronENST00000361144ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400798ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400798ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400798ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400798ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-intronENST00000400798ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400797ENST00000322507KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400797ENST00000345356KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400797ENST00000416123KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-3CDSENST00000400797ENST00000483888KAZNchr1

15444068

-COL12A1chr6

75829120

+
intron-intronENST00000400797ENST00000511023KAZNchr1

15444068

-COL12A1chr6

75829120

+

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FusionProtFeatures for KAZN_COL12A1


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

Q674X7

COL12A1

Q99715

Type XII collagen interacts with type I collagen-containing fibrils, the COL1 domain could be associated with thesurface of the fibrils, and the COL2 and NC3 domains may belocalized in the perifibrillar matrix. {ECO:0000250}.

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_COL12A1


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_COL12A1


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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RelatedDrugs for KAZN_COL12A1


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_COL12A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
TgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL12A1C0345967Malignant mesothelioma1CTD_human