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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: 12915

FusionGeneSummary for FANCC_PSIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FANCC_PSIP1
Fusion gene ID: 12915
HgeneTgene
Gene symbol

FANCC

PSIP1

Gene ID

2176

11168

Gene nameFA complementation group CPC4 and SFRS1 interacting protein 1
SynonymsFA3|FAC|FACCDFS70|LEDGF|PAIP|PSIP2|p52|p75
Cytomap

9q22.32

9p22.3

Type of geneprotein-codingprotein-coding
DescriptionFanconi anemia group C proteinFanconi anemia complementation group CPC4 and SFRS1-interacting proteinCLL-associated antigen KW-7dense fine speckles 70 kDa proteinlens epithelium-derived growth factortranscriptional coactivator p52/p75
Modification date2018052320180519
UniProtAcc

Q00597

O75475

Ensembl transtripts involved in fusion geneENST00000289081, ENST00000375305, 
ENST00000464653, 
ENST00000380738, 
ENST00000380733, ENST00000380715, 
ENST00000380716, ENST00000397519, 
ENST00000484265, 
Fusion gene scores* DoF score7 X 5 X 6=2104 X 3 X 4=48
# samples 74
** MAII scorelog2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FANCC [Title/Abstract] AND PSIP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationDDR (DNA damage repair) gene involved fusion gene, retained protein feature but frameshift.
* 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
TgenePSIP1

GO:0000395

mRNA 5'-splice site recognition

9885563


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
TCGARVKIRPTCGA-SX-A71V-01AFANCCchr9

97912205

-PSIP1chr9

15490122

-
* 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
Frame-shitENST00000289081ENST00000380738FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000289081ENST00000380733FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000289081ENST00000380715FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000289081ENST00000380716FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000289081ENST00000397519FANCCchr9

97912205

-PSIP1chr9

15490122

-
5CDS-intronENST00000289081ENST00000484265FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000375305ENST00000380738FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000375305ENST00000380733FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000375305ENST00000380715FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000375305ENST00000380716FANCCchr9

97912205

-PSIP1chr9

15490122

-
Frame-shitENST00000375305ENST00000397519FANCCchr9

97912205

-PSIP1chr9

15490122

-
5CDS-intronENST00000375305ENST00000484265FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-3CDSENST00000464653ENST00000380738FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-3CDSENST00000464653ENST00000380733FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-3CDSENST00000464653ENST00000380715FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-3CDSENST00000464653ENST00000380716FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-3CDSENST00000464653ENST00000397519FANCCchr9

97912205

-PSIP1chr9

15490122

-
intron-intronENST00000464653ENST00000484265FANCCchr9

97912205

-PSIP1chr9

15490122

-

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FusionProtFeatures for FANCC_PSIP1


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

Q00597

PSIP1

O75475

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}. Transcriptional coactivator involved in neuroepithelialstem cell differentiation and neurogenesis. Involved in particularin lens epithelial cell gene regulation and stress responses. Mayplay an important role in lens epithelial to fiber cell terminaldifferentiation. May play a protective role during stress-inducedapoptosis. Isoform 2 is a more general and strongertranscriptional coactivator. Isoform 2 may also act as an adapterto coordinate pre-mRNA splicing. Cellular cofactor for lentiviralintegration. {ECO:0000269|PubMed:15642333}.

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 FANCC_PSIP1


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 FANCC_PSIP1


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, SPTA1PSIP1SRSF1, SP1, SUB1, BANF1, MEN1, KMT2A, MAPK6, HDGF, SH3KBP1, NCSTN, EXOSC5, CAST, RPS24, EXOSC4, RPL6, SON, FTSJ3, TRA2B, SAP18, RRS1, TPBG, ZC3H18, RPS11, THRAP3, U2AF1, EIF4A3, SUPT16H, ESR1, CSNK2A1, HMGA1, HMGA2, RPA3, RPA2, RPA1, PPP2R1A, CUL7, OBSL1, ABCE1, SCARNA22, EWSR1, NPM1, RPL10, VIM, RBPJ, FOXE1, FOXK2, POU5F1, FOXA1, SUMO1, HIST1H3A


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 FANCC_PSIP1


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 FANCC_PSIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFANCCC3468041FANCONI ANEMIA, COMPLEMENTATION GROUP C2CTD_human;UNIPROT
TgenePSIP1C0023467Leukemia, Myelocytic, Acute1CTD_human