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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: 43546

FusionGeneSummary for ZNF638_COL9A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZNF638_COL9A1
Fusion gene ID: 43546
HgeneTgene
Gene symbol

ZNF638

COL9A1

Gene ID

27332

1297

Gene namezinc finger protein 638collagen type IX alpha 1 chain
SynonymsNP220|ZFML|Zfp638DJ149L1.1.2|EDM6|MED|STL4
Cytomap

2p13.3-p13.2

6q13

Type of geneprotein-codingprotein-coding
Descriptionzinc finger protein 638CTCL tumor antigen se33-1CTCL-associated antigen se33-1NP220 nuclear proteincutaneous T-cell lymphoma-associated antigen se33-1nuclear protein 220zinc finger matrin-like proteincollagen alpha-1(IX) chainalpha-1(IX) collagen chaincartilage-specific short collagencollagen IX, alpha-1 polypeptidecollagen, type IX, alpha 1
Modification date2018051920180523
UniProtAcc

Q14966

P20849

Ensembl transtripts involved in fusion geneENST00000410075, ENST00000377802, 
ENST00000355812, ENST00000409544, 
ENST00000264447, ENST00000409407, 
ENST00000357250, ENST00000320755, 
ENST00000370499, ENST00000489611, 
ENST00000370496, 
Fusion gene scores* DoF score13 X 10 X 8=10404 X 4 X 4=64
# samples 134
** MAII scorelog2(13/1040*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ZNF638 [Title/Abstract] AND COL9A1 [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
ChiTaRS3.1DV460377ZNF638chr2

71662040

-COL9A1chr6

70925993

+
* 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-3UTRENST00000410075ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-3UTRENST00000410075ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-3UTRENST00000410075ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-intronENST00000410075ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-intronENST00000410075ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-3UTRENST00000377802ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-3UTRENST00000377802ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-3UTRENST00000377802ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-intronENST00000377802ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
intron-intronENST00000377802ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000355812ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000355812ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000355812ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000355812ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000355812ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409544ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409544ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409544ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000409544ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000409544ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000264447ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000264447ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000264447ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000264447ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000264447ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409407ENST00000357250ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409407ENST00000320755ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-3UTRENST00000409407ENST00000370499ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000409407ENST00000489611ZNF638chr2

71662040

-COL9A1chr6

70925993

+
3UTR-intronENST00000409407ENST00000370496ZNF638chr2

71662040

-COL9A1chr6

70925993

+

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FusionProtFeatures for ZNF638_COL9A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZNF638

Q14966

COL9A1

P20849


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 ZNF638_COL9A1


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 ZNF638_COL9A1


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 ZNF638_COL9A1


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 ZNF638_COL9A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL9A1C0029422Osteochondrodysplasias2CTD_human
TgeneCOL9A1C0018784Sensorineural Hearing Loss (disorder)1CTD_human;HPO
TgeneCOL9A1C0027092Myopia1CTD_human;HPO
TgeneCOL9A1C0035309Retinal Diseases1CTD_human