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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:BABAM1-CCDC61 (FusionGDB2 ID:HG29086TG729440)

Fusion Gene Summary for BABAM1-CCDC61

check button Fusion gene summary
Fusion gene informationFusion gene name: BABAM1-CCDC61
Fusion gene ID: hg29086tg729440
HgeneTgene
Gene symbol

BABAM1

CCDC61

Gene ID

29086

729440

Gene nameBRISC and BRCA1 A complex member 1coiled-coil domain containing 61
SynonymsC19orf62|HSPC142|MERIT40|NBA1-
Cytomap('BABAM1')('CCDC61')

19p13.11

19q13.32

Type of geneprotein-codingprotein-coding
DescriptionBRISC and BRCA1-A complex member 1BRCA1-A complex subunit MERIT40mediator of RAP80 interactions and targeting subunit of 40 kDamediator of Rap80 interactions and targeting 40 kDanew component of the BRCA1-A complexnew component of the BRCAA1 A complecoiled-coil domain-containing protein 61
Modification date2020031320200313
UniProtAcc.

Q9Y6R9

Ensembl transtripts involved in fusion geneENST00000448635, ENST00000359435, 
ENST00000447614, ENST00000595632, 
ENST00000598188, ENST00000601043, 
Fusion gene scores* DoF score6 X 5 X 3=904 X 4 X 4=64
# samples 65
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/64*10)=-0.356143810225275
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BABAM1 [Title/Abstract] AND CCDC61 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBABAM1(17378336)-CCDC61(46519951), # 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
ChimerDB4OVTCGA-13-0897BABAM1chr19

17378336

+CCDC61chr19

46519951

+


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Fusion Gene ORF analysis for BABAM1-CCDC61

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
3UTR-3CDSENST00000448635ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
3UTR-3CDSENST00000448635ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
3UTR-3CDSENST00000448635ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
3UTR-3CDSENST00000448635ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
3UTR-intronENST00000448635ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000359435ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000359435ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000359435ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000359435ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000447614ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000447614ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000447614ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000447614ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000595632ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000595632ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000595632ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000595632ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000598188ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000598188ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000598188ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-3CDSENST00000598188ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-intronENST00000359435ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-intronENST00000447614ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-intronENST00000595632ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+
5UTR-intronENST00000598188ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+
intron-3CDSENST00000601043ENST00000263284BABAM1chr19

17378336

+CCDC61chr19

46519951

+
intron-3CDSENST00000601043ENST00000536603BABAM1chr19

17378336

+CCDC61chr19

46519951

+
intron-3CDSENST00000601043ENST00000594087BABAM1chr19

17378336

+CCDC61chr19

46519951

+
intron-3CDSENST00000601043ENST00000595358BABAM1chr19

17378336

+CCDC61chr19

46519951

+
intron-intronENST00000601043ENST00000601763BABAM1chr19

17378336

+CCDC61chr19

46519951

+

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 BABAM1-CCDC61


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)
BABAM1chr1917378336+CCDC61chr1946519951+2.01E-050.99998
BABAM1chr1917378336+CCDC61chr1946519951+2.01E-050.99998


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for BABAM1-CCDC61


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/:17378336/:46519951)
- 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
.CCDC61

Q9Y6R9

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: Microtubule-binding centrosomal protein required for centriole cohesion, independently of the centrosome-associated protein/CEP250 and rootletin/CROCC linker (PubMed:31789463). In interphase, required for anchoring microtubule at the mother centriole subdistal appendages and for centrosome positioning (PubMed:31789463). During mitosis, may be involved in spindle assembly and chromatin alignment by regulating the organization of spindle microtubules into a symmetrical structure (PubMed:30354798). Has been proposed to play a role in CEP170 recruitment to centrosomes (PubMed:30354798). However, this function could not be confirmed (PubMed:31789463). Plays a non-essential role in ciliogenesis (PubMed:31789463, PubMed:32375023). {ECO:0000269|PubMed:30354798, ECO:0000269|PubMed:31789463, ECO:0000269|PubMed:32375023}.

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 BABAM1-CCDC61


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 BABAM1-CCDC61


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 BABAM1-CCDC61


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 BABAM1-CCDC61


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBABAM1C0919267ovarian neoplasm1CTD_human
HgeneBABAM1C1140680Malignant neoplasm of ovary1CTD_human