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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: 6897

FusionGeneSummary for CFH_COL12A1

check button Fusion gene summary
Fusion gene informationFusion gene name: CFH_COL12A1
Fusion gene ID: 6897
HgeneTgene
Gene symbol

CFH

COL12A1

Gene ID

3075

1303

Gene namecomplement factor Hcollagen type XII alpha 1 chain
SynonymsAHUS1|AMBP1|ARMD4|ARMS1|CFHL3|FH|FHL1|HF|HF1|HF2|HUSBA209D8.1|BTHLM2|COL12A1L|DJ234P15.1|EDSMYP|UCMD2
Cytomap

1q31.3

6q13-q14.1

Type of geneprotein-codingprotein-coding
Descriptioncomplement factor HH factor 1 (complement)H factor 2 (complement)adrenomedullin binding proteinage-related maculopathy susceptibility 1beta-1-H-globulinbeta-1Hfactor Hfactor H-like 1collagen alpha-1(XII) chaincollagen type XII proteoglycancollagen, type XII, alpha 1
Modification date2018052020180523
UniProtAcc

P08603

Q99715

Ensembl transtripts involved in fusion geneENST00000439155, ENST00000367429, 
ENST00000496761, ENST00000359637, 
ENST00000322507, ENST00000345356, 
ENST00000416123, ENST00000483888, 
ENST00000511023, 
Fusion gene scores* DoF score6 X 6 X 3=1087 X 9 X 2=126
# samples 79
** MAII scorelog2(7/108*10)=-0.625604485218502
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: CFH [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
HgeneCFH

GO:0006956

complement activation

24835392


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
ChiTaRS3.1AW371066CFHchr1

196654356

+COL12A1chr6

75794740

-
* 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
5CDS-3UTRENST00000439155ENST00000322507CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000439155ENST00000345356CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000439155ENST00000416123CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000439155ENST00000483888CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000439155ENST00000511023CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-3UTRENST00000367429ENST00000322507CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000367429ENST00000345356CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000367429ENST00000416123CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000367429ENST00000483888CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000367429ENST00000511023CFHchr1

196654356

+COL12A1chr6

75794740

-
intron-3UTRENST00000496761ENST00000322507CFHchr1

196654356

+COL12A1chr6

75794740

-
intron-intronENST00000496761ENST00000345356CFHchr1

196654356

+COL12A1chr6

75794740

-
intron-intronENST00000496761ENST00000416123CFHchr1

196654356

+COL12A1chr6

75794740

-
intron-intronENST00000496761ENST00000483888CFHchr1

196654356

+COL12A1chr6

75794740

-
intron-intronENST00000496761ENST00000511023CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-3UTRENST00000359637ENST00000322507CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000359637ENST00000345356CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000359637ENST00000416123CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000359637ENST00000483888CFHchr1

196654356

+COL12A1chr6

75794740

-
5CDS-intronENST00000359637ENST00000511023CFHchr1

196654356

+COL12A1chr6

75794740

-

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FusionProtFeatures for CFH_COL12A1


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

P08603

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 CFH_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 CFH_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 CFH_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
HgeneCFHP08603DB01593ZincComplement factor Hsmall moleculeapproved|investigational

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RelatedDiseases for CFH_COL12A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCFHC2749604HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 110ORPHANET;UNIPROT
HgeneCFHC0398777Complement Factor H Deficiency7CTD_human;ORPHANET;UNIPROT
HgeneCFHC0242383Age related macular degeneration6CTD_human
HgeneCFHC2931788Atypical Hemolytic Uremic Syndrome2CTD_human
HgeneCFHC0017662Glomerulonephritis, Membranoproliferative1CTD_human
HgeneCFHC0021051Immunologic Deficiency Syndromes1CTD_human
HgeneCFHC0025303Meningococcal Infections1CTD_human
TgeneCOL12A1C4225313BETHLEM MYOPATHY 22UNIPROT
TgeneCOL12A1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCOL12A1C0345967Malignant mesothelioma1CTD_human