FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12912

FusionGeneSummary for FANCC_C9orf3

check button Fusion gene summary
Fusion gene informationFusion gene name: FANCC_C9orf3
Fusion gene ID: 12912
HgeneTgene
Gene symbol

FANCC

C9orf3

Gene ID

2176

84909

Gene nameFA complementation group Cchromosome 9 open reading frame 3
SynonymsFA3|FAC|FACCAOPEP|AP-O|APO|C90RF3|ONPEP
Cytomap

9q22.32

9q22.32

Type of geneprotein-codingprotein-coding
DescriptionFanconi anemia group C proteinFanconi anemia complementation group Caminopeptidase O
Modification date2018052320180523
UniProtAcc

Q00597

Ensembl transtripts involved in fusion geneENST00000289081, ENST00000375305, 
ENST00000464653, 
ENST00000277198, 
ENST00000297979, ENST00000375315, 
ENST00000395357, ENST00000425634, 
ENST00000433691, ENST00000473778, 
Fusion gene scores* DoF score7 X 5 X 6=2108 X 4 X 7=224
# samples 78
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FANCC [Title/Abstract] AND C9orf3 [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
TgeneC9orf3

GO:0006508

proteolysis

15687497


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
TCGARVHNSCTCGA-BA-6873-01AFANCCchr9

98002931

-C9orf3chr9

97822976

+
* 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-intronENST00000289081ENST00000277198FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000297979FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000375315FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000395357FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000425634FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000433691FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000289081ENST00000473778FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000277198FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000297979FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000375315FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000395357FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000425634FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000433691FANCCchr9

98002931

-C9orf3chr9

97822976

+
5CDS-intronENST00000375305ENST00000473778FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000277198FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000297979FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000375315FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000395357FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000425634FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000433691FANCCchr9

98002931

-C9orf3chr9

97822976

+
intron-intronENST00000464653ENST00000473778FANCCchr9

98002931

-C9orf3chr9

97822976

+

Top

FusionProtFeatures for FANCC_C9orf3


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

Q00597

C9orf3

DNA repair protein that may operate in a postreplicationrepair or a cell cycle checkpoint function. May be implicated ininterstrand DNA cross-link repair and in the maintenance of normalchromosome stability. Upon IFNG induction, may facilitate STAT1activation by recruiting STAT1 to IFNGR1.{ECO:0000269|PubMed:11520787}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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


Top

FusionGeneSequence for FANCC_C9orf3


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).

Top

FusionGenePPI for FANCC_C9orf3


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
FANCCEBLN2, HSPA1A, EIF2AK2, FANCE, FANCF, STAT1, GSTP1, FANCA, SPTAN1, AZIN1, TCERG1, CDK1, FANCG, ZBTB32, RPS3A, HSP90B1, HSP90AA1, HSPA8, ATP6, KRT1, IK, RPL18, USP14, FANCM, NPM1, CAPN1, FANCL, HES1, FANCD2, HSPA4, DNAJB1, POR, CTNNB1, C1orf86, CAPN10, APITD1, STRA13, C17orf70, NOTCH1, STMN2, STMN1, CTBP1, RECQL5, UNC5A, FANCC, PRDX3, PRPF31, CCNA2, SPTA1C9orf3SUN2, LRRC40, ZDHHC17, TUBA4A, SUZ12, TUBB3


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


Top

RelatedDrugs for FANCC_C9orf3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for FANCC_C9orf3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFANCCC3468041FANCONI ANEMIA, COMPLEMENTATION GROUP C2CTD_human;UNIPROT
TgeneC9orf3C0004238Atrial Fibrillation1CTD_human
TgeneC9orf3C0032927Precancerous Conditions1CTD_human
TgeneC9orf3C3495559Juvenile arthritis1CTD_human