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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:FAM53B-BBIP1 (FusionGDB2 ID:29095)

Fusion Gene Summary for FAM53B-BBIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM53B-BBIP1
Fusion gene ID: 29095
HgeneTgene
Gene symbol

FAM53B

BBIP1

Gene ID

9679

92482

Gene namefamily with sequence similarity 53 member BBBSome interacting protein 1
SynonymsKIAA0140|bA12J10.2|smpBBIP10|BBS18|NCRNA00081|bA348N5.3
Cytomap

10q26.13

10q25.2

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM53Bprotein simpletsimplet homologBBSome-interacting protein 1BBSome-interacting protein of 10 kDaUPF0604 protein
Modification date2020031320200313
UniProtAcc

Q14153

.
Ensembl transtripts involved in fusion geneENST00000280780, ENST00000337318, 
ENST00000392754, 		ENST00000447005, 
ENST00000454061, ENST00000605265, 
ENST00000423273, ENST00000436562, 
ENST00000605742, ENST00000448814, 
Fusion gene scores* DoF score9 X 5 X 6=2702 X 2 X 2=8
# samples 112
** MAII scorelog2(11/270*10)=-1.29545588352617
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: FAM53B [Title/Abstract] AND BBIP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAM53B(126384727)-BBIP1(112661370), # samples:2
Anticipated loss of major functional domain due to fusion event.FAM53B-BBIP1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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 buttonFusion gene breakpoints across FAM53B (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across BBIP1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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
ChimerDB4LUADTCGA-78-7145-01AFAM53Bchr10

126384727

-BBIP1chr10

112661370

-


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Fusion Gene ORF analysis for FAM53B-BBIP1

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-5UTRENST00000280780ENST00000447005FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000280780ENST00000454061FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000280780ENST00000605265FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000337318ENST00000447005FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000337318ENST00000454061FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000337318ENST00000605265FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000392754ENST00000447005FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000392754ENST00000454061FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-5UTRENST00000392754ENST00000605265FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000280780ENST00000423273FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000280780ENST00000436562FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000280780ENST00000605742FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000337318ENST00000423273FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000337318ENST00000436562FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000337318ENST00000605742FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000392754ENST00000423273FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000392754ENST00000436562FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
5CDS-intronENST00000392754ENST00000605742FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
Frame-shiftENST00000392754ENST00000448814FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
In-frameENST00000280780ENST00000448814FAM53Bchr10

126384727

-BBIP1chr10

112661370

-
In-frameENST00000337318ENST00000448814FAM53Bchr10

126384727

-BBIP1chr10

112661370

-

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)
ENST00000337318FAM53Bchr10126384727-ENST00000448814BBIP1chr10112661370-2217345167586139
ENST00000280780FAM53Bchr10126384727-ENST00000448814BBIP1chr10112661370-2436564386805139

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
ENST00000337318ENST00000448814FAM53Bchr10126384727-BBIP1chr10112661370-0.074533630.9254664
ENST00000280780ENST00000448814FAM53Bchr10126384727-BBIP1chr10112661370-0.110068710.88993126

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Fusion Genomic Features for FAM53B-BBIP1


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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

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.

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Fusion Protein Features for FAM53B-BBIP1


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/chr10:126384727/chr10:112661370)
- 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
FAM53B

Q14153

.
FUNCTION: Acts as a regulator of Wnt signaling pathway by regulating beta-catenin (CTNNB1) nuclear localization. {ECO:0000269|PubMed:25183871}.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
HgeneFAM53Bchr10:126384727chr10:112661370ENST00000280780-35281_28444306.0MotifNuclear localization signal
HgeneFAM53Bchr10:126384727chr10:112661370ENST00000337318-35281_28444423.0MotifNuclear localization signal
HgeneFAM53Bchr10:126384727chr10:112661370ENST00000392754-35281_28444423.0MotifNuclear localization signal


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Fusion Gene Sequence for FAM53B-BBIP1


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.
>29095_29095_1_FAM53B-BBIP1_FAM53B_chr10_126384727_ENST00000280780_BBIP1_chr10_112661370_ENST00000448814_length(transcript)=2436nt_BP=564nt
CACGCAGCCGCGGTCTGGCGGCTCCGCGGCGGCGGCGGGTGCGGGCGGCCTGGCCGGTGCCGGTTAAAGGGACGAGTTGCAAACACTTCA
GGAAGTGACAAGTCGATTTCCTCCTCCCCGGGAGTCGCTCGTACAAAGCGCTCGGCGCCGGCAGGCGAGCGTGCGCGCGGCGGACGCGCG
GCGGGCACCCCGGACGACTTGGCGAGCGCTGGCGGTGACGGCGCGGGGTCCGCGCCCGGAGCGCCCCGCCGCGCACAGGAGTTGACCACA
TTTGGCCATTTCCCAGAAGGGCCCCACCCCAAGGGTGAGTGGCCAATGGGGAGCTGTTTCTGCTGACATCAATTCCCCAGGAGGTACTCA
CCCCAAGTCTGCCCAAGTGAAGATGGCTGATACCCACCCTGGGATGGAGCCCAGCGCCTGAGGCCCTTATCATGGTGATGGTCCTAAGTG
AAAGCCTCAGCACCCGGGGAGCTGACTCCATTGCATGTGGGACCTTCAGCCGTGAACTGCACACGCCAAAGAAGATGAGTCAAGGACCTA
CACTTTTCTCTTGTGGAATTATGGGAAAAAACACTATATCCAACAACTCAGATATGGCAGAAGTGAAGTCAATGTTCCGGGAAGTTCTTC
CAAAGCAAGGGCCACTGTTTGTGGAAGATATAATGACAATGGTGCTGTGTAAACCCAAACTTTTACCCTTAAAATCTCTGACTCTGGAAA
AACTAGAGAAAATGCATCAAGCAGCACAGAATACAATTCGCCAACAAGAAATGGCAGAAAAGGATCAACGGCAAATAACCCACTGAATGA
TAACTGAGCACTTTAGGGAACAACCTGCCTTATCTACTATTTAACAATAACTAGAAAATATGCTTCTGTGTGCTGAAAGTAGTATGTGTT
ATCAATAAAATTGATAGTATTCATAGAAATACAAAAATATCCAAGATTGATGAAATTTGTATTGTGAATGTAAACACTCTGGTTTGTATT
GAACATAAACAGTTAAACTATGAACCAAGTTTTATGGGGTTTAAGTCATGTTTTTAGAATTGCAAATTAAATTATTTGTTCACCATTCCT
ATTGCTATCTTTTATAGATAACATTCTTGGGATCTTTTATAGCATTCTTGGGCACAAGGGATTAAATACAACTTTTATATACAGAGGATC
TTTACATGTTTATTAAATCTGAATTTGAAGATACATTCCAATCTTGCATAAAGTGTTTGTTGGGCTTTTACATTACGTAATTAAAAAACA
AAATTTTTTAACCAATTTTATGTGCCATGTCACGTTTAATGCTATCTTGTGTGACCAGATCCCACCAGTAATGACAAAACTGTCTTAAAC
CTCATTTTTTTTTTTTTTTGAGACAAGAGTTTCACTCTTGTTGCCCAAACGAGAGCAATGGCACCATCTCGACTCACTGCAACCTCTGCC
TCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACACGCATGCGCCACCATGCCTGGCTACTTTTGTATTTTT
AATAGAGACAGGGTTTCTTCATGTTGGTCAAGCTGGTCATGAACTCCCAACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGG
GATTACAGGCATGAGCCACCGTGCCCAGCCCTTAAATCTCATTTTTAAGAAACCCTCACCTATTCTGTAGTCAGCTAAGCTTTTAATTAC
ATTAATTTTAAGCACTTGAGAATAAAATGACTGCATTTATCATCCAAGTGTCAAACAATTAAAAACCTAAAAATGGTAACTATATATAAG
CTGAGGTAATATGGGCTTGATAAAGCCCATGAGGTAAATATGAACACTAAACTTGGTTTTAATTCTAACAGACTATATCTAAACCTGTAA
GCAGTATACTCCTAACAGTACCCTCATAAATTCTGAATATAATTCTTGTTTGCTGCAGTCAATATTTGGCAGTTTAAATTAGCACAGACG
TTGAGGCCTTGCTGAGTTATTAGGCTATGTAAAAGAGGTTAAAAATATGATCATTCTTTATTGTTAATTGGTAATATTTTCTCATACATT
AGGTAAATGTCAAGCTTTGGGTCTCTGGAGTATAACTTTTTGTAACATTAGCCATTATTTGGTAACAGAATTTAAGGATGATGGAATGAT
GGAAGGTATTACATATTTCTAAAACTTAATTAAGCTCTAGGTCAGATAACAATGGAGTAAAGTGATACCTGCATTTTTTTCCCCAGTGTA
ATCTTAATTTACTATTGTATTTTTCACTTAAAATTTTGTAGGGAAAAAAAGTTTTCAAGGGAACACTAAGATTAAATTGACTAGGTTCAA
ATATGCTTCCTTATGAGATTCAAAATTTACTGTGTGAAATTAAAGTTTAAGAGACCTAAAAAAATGTACTCCCAATAAAGAATCAATACT

>29095_29095_1_FAM53B-BBIP1_FAM53B_chr10_126384727_ENST00000280780_BBIP1_chr10_112661370_ENST00000448814_length(amino acids)=139AA_BP=57
MIPTLGWSPAPEALIMVMVLSESLSTRGADSIACGTFSRELHTPKKMSQGPTLFSCGIMGKNTISNNSDMAEVKSMFREVLPKQGPLFVE

--------------------------------------------------------------
>29095_29095_2_FAM53B-BBIP1_FAM53B_chr10_126384727_ENST00000337318_BBIP1_chr10_112661370_ENST00000448814_length(transcript)=2217nt_BP=345nt
GGCGCGGGGTCCGCGCCCGGAGCGCCCCGCCGCGCACAGGAGTTGACCACATTTGGCCATTTCCCAGAAGGGCCCCACCCCAAGGGTGAG
TGGCCAATGGGGAGCTGTTTCTGCTGACATCAATTCCCCAGGAGGTACTCACCCCAAGTCTGCCCAAGTGAAGATGGCTGATACCCACCC
TGGGATGGAGCCCAGCGCCTGAGGCCCTTATCATGGTGATGGTCCTAAGTGAAAGCCTCAGCACCCGGGGAGCTGACTCCATTGCATGTG
GGACCTTCAGCCGTGAACTGCACACGCCAAAGAAGATGAGTCAAGGACCTACACTTTTCTCTTGTGGAATTATGGGAAAAAACACTATAT
CCAACAACTCAGATATGGCAGAAGTGAAGTCAATGTTCCGGGAAGTTCTTCCAAAGCAAGGGCCACTGTTTGTGGAAGATATAATGACAA
TGGTGCTGTGTAAACCCAAACTTTTACCCTTAAAATCTCTGACTCTGGAAAAACTAGAGAAAATGCATCAAGCAGCACAGAATACAATTC
GCCAACAAGAAATGGCAGAAAAGGATCAACGGCAAATAACCCACTGAATGATAACTGAGCACTTTAGGGAACAACCTGCCTTATCTACTA
TTTAACAATAACTAGAAAATATGCTTCTGTGTGCTGAAAGTAGTATGTGTTATCAATAAAATTGATAGTATTCATAGAAATACAAAAATA
TCCAAGATTGATGAAATTTGTATTGTGAATGTAAACACTCTGGTTTGTATTGAACATAAACAGTTAAACTATGAACCAAGTTTTATGGGG
TTTAAGTCATGTTTTTAGAATTGCAAATTAAATTATTTGTTCACCATTCCTATTGCTATCTTTTATAGATAACATTCTTGGGATCTTTTA
TAGCATTCTTGGGCACAAGGGATTAAATACAACTTTTATATACAGAGGATCTTTACATGTTTATTAAATCTGAATTTGAAGATACATTCC
AATCTTGCATAAAGTGTTTGTTGGGCTTTTACATTACGTAATTAAAAAACAAAATTTTTTAACCAATTTTATGTGCCATGTCACGTTTAA
TGCTATCTTGTGTGACCAGATCCCACCAGTAATGACAAAACTGTCTTAAACCTCATTTTTTTTTTTTTTTGAGACAAGAGTTTCACTCTT
GTTGCCCAAACGAGAGCAATGGCACCATCTCGACTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAG
TAGCTGGGATTACACGCATGCGCCACCATGCCTGGCTACTTTTGTATTTTTAATAGAGACAGGGTTTCTTCATGTTGGTCAAGCTGGTCA
TGAACTCCCAACCTCAAGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCCTTAAATCT
CATTTTTAAGAAACCCTCACCTATTCTGTAGTCAGCTAAGCTTTTAATTACATTAATTTTAAGCACTTGAGAATAAAATGACTGCATTTA
TCATCCAAGTGTCAAACAATTAAAAACCTAAAAATGGTAACTATATATAAGCTGAGGTAATATGGGCTTGATAAAGCCCATGAGGTAAAT
ATGAACACTAAACTTGGTTTTAATTCTAACAGACTATATCTAAACCTGTAAGCAGTATACTCCTAACAGTACCCTCATAAATTCTGAATA
TAATTCTTGTTTGCTGCAGTCAATATTTGGCAGTTTAAATTAGCACAGACGTTGAGGCCTTGCTGAGTTATTAGGCTATGTAAAAGAGGT
TAAAAATATGATCATTCTTTATTGTTAATTGGTAATATTTTCTCATACATTAGGTAAATGTCAAGCTTTGGGTCTCTGGAGTATAACTTT
TTGTAACATTAGCCATTATTTGGTAACAGAATTTAAGGATGATGGAATGATGGAAGGTATTACATATTTCTAAAACTTAATTAAGCTCTA
GGTCAGATAACAATGGAGTAAAGTGATACCTGCATTTTTTTCCCCAGTGTAATCTTAATTTACTATTGTATTTTTCACTTAAAATTTTGT
AGGGAAAAAAAGTTTTCAAGGGAACACTAAGATTAAATTGACTAGGTTCAAATATGCTTCCTTATGAGATTCAAAATTTACTGTGTGAAA

>29095_29095_2_FAM53B-BBIP1_FAM53B_chr10_126384727_ENST00000337318_BBIP1_chr10_112661370_ENST00000448814_length(amino acids)=139AA_BP=57
MIPTLGWSPAPEALIMVMVLSESLSTRGADSIACGTFSRELHTPKKMSQGPTLFSCGIMGKNTISNNSDMAEVKSMFREVLPKQGPLFVE

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Fusion Gene PPI Analysis for FAM53B-BBIP1


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 FAM53B-BBIP1


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 FAM53B-BBIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource