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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:FANCA-FANCA (FusionGDB2 ID:HG2175TG2175)

Fusion Gene Summary for FANCA-FANCA

check button Fusion gene summary
Fusion gene informationFusion gene name: FANCA-FANCA
Fusion gene ID: hg2175tg2175
HgeneTgene
Gene symbol

FANCA

FANCA

Gene ID

2175

2175

Gene nameFA complementation group AFA complementation group A
SynonymsFA|FA-H|FA1|FAA|FACA|FAH|FANCHFA|FA-H|FA1|FAA|FACA|FAH|FANCH
Cytomap('FANCA')('FANCA')

16q24.3

16q24.3

Type of geneprotein-codingprotein-coding
DescriptionFanconi anemia group A proteinFanconi anemia complementation group AFanconi anemia, complementation group HFanconi anemia, type 1Fanconi anemia group A proteinFanconi anemia complementation group AFanconi anemia, complementation group HFanconi anemia, type 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000389301, ENST00000389302, 
ENST00000534992, ENST00000543736, 
ENST00000563673, ENST00000567284, 
ENST00000568369, 		ENST00000389301, 
ENST00000389302, ENST00000534992, 
ENST00000543736, ENST00000563673, 
ENST00000567284, ENST00000568369, 
Fusion gene scores* DoF score13 X 12 X 5=7809 X 13 X 6=702
# samples 1315
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/702*10)=-2.22650852980868
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FANCA [Title/Abstract] AND FANCA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFANCA(89877722)-FANCA(89877617), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand


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Fusion Gene ORF analysis for FANCA-FANCA

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

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for FANCA-FANCA


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for FANCA-FANCA


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:89877722/:89877617)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for FANCA-FANCA


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for FANCA-FANCA


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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Related Drugs for FANCA-FANCA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for FANCA-FANCA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFANCAC3469521FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)19CLINGEN;GENOMICS_ENGLAND;UNIPROT
HgeneFANCAC1856796Estren-Dameshek Variant of Fanconi Anemia6CLINGEN
HgeneFANCAC1856797Estren-Dameshek Variant of Fanconi Pancytopenia6CLINGEN
HgeneFANCAC0015625Fanconi Anemia5CTD_human;GENOMICS_ENGLAND
HgeneFANCAC0030312Pancytopenia2GENOMICS_ENGLAND
HgeneFANCAC1384666hearing impairment2GENOMICS_ENGLAND
HgeneFANCAC1855710Bone marrow hypocellularity2GENOMICS_ENGLAND
HgeneFANCAC2750866Growth retardation, pre- and postnatal2GENOMICS_ENGLAND
HgeneFANCAC0005684Malignant neoplasm of urinary bladder1CTD_human
HgeneFANCAC0005695Bladder Neoplasm1CTD_human
HgeneFANCAC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneFANCAC0020459Hyperinsulinism1CTD_human
HgeneFANCAC0023418leukemia1CGI;GENOMICS_ENGLAND
HgeneFANCAC0023465Acute monocytic leukemia1GENOMICS_ENGLAND
HgeneFANCAC0023467Leukemia, Myelocytic, Acute1CGI;GENOMICS_ENGLAND
HgeneFANCAC0036095Salivary Gland Neoplasms1CTD_human
HgeneFANCAC0220636Malignant neoplasm of salivary gland1CTD_human
HgeneFANCAC0265219Miller Dieker syndrome1GENOMICS_ENGLAND
HgeneFANCAC1257963Endogenous Hyperinsulinism1CTD_human
HgeneFANCAC1257964Exogenous Hyperinsulinism1CTD_human
HgeneFANCAC1257965Compensatory Hyperinsulinemia1CTD_human
HgeneFANCAC3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND
HgeneFANCAC4228778Abnormality of radial ray1GENOMICS_ENGLAND
TgeneC3469521FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)19CLINGEN;GENOMICS_ENGLAND;UNIPROT
TgeneC1856796Estren-Dameshek Variant of Fanconi Anemia6CLINGEN
TgeneC1856797Estren-Dameshek Variant of Fanconi Pancytopenia6CLINGEN
TgeneC0015625Fanconi Anemia5CTD_human;GENOMICS_ENGLAND
TgeneC0030312Pancytopenia2GENOMICS_ENGLAND
TgeneC1384666hearing impairment2GENOMICS_ENGLAND
TgeneC1855710Bone marrow hypocellularity2GENOMICS_ENGLAND
TgeneC2750866Growth retardation, pre- and postnatal2GENOMICS_ENGLAND
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0020459Hyperinsulinism1CTD_human
TgeneC0023418leukemia1CGI;GENOMICS_ENGLAND
TgeneC0023465Acute monocytic leukemia1GENOMICS_ENGLAND
TgeneC0023467Leukemia, Myelocytic, Acute1CGI;GENOMICS_ENGLAND
TgeneC0036095Salivary Gland Neoplasms1CTD_human
TgeneC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneC0265219Miller Dieker syndrome1GENOMICS_ENGLAND
TgeneC1257963Endogenous Hyperinsulinism1CTD_human
TgeneC1257964Exogenous Hyperinsulinism1CTD_human
TgeneC1257965Compensatory Hyperinsulinemia1CTD_human
TgeneC3463824MYELODYSPLASTIC SYNDROME1GENOMICS_ENGLAND
TgeneC4228778Abnormality of radial ray1GENOMICS_ENGLAND