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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:BICD1-KIAA1551 (FusionGDB2 ID:9690)

Fusion Gene Summary for BICD1-KIAA1551

check button Fusion gene summary
Fusion gene informationFusion gene name: BICD1-KIAA1551
Fusion gene ID: 9690
HgeneTgene
Gene symbol

BICD1

KIAA1551

Gene ID

636

55196

Gene nameBICD cargo adaptor 1retroelement silencing factor 1
SynonymsBICD|bic-D 1C12orf35|GET|KIAA1551|UTA2-1
Cytomap

12p11.21

12p11.21

Type of geneprotein-codingprotein-coding
Descriptionprotein bicaudal D homolog 1bicaudal D homolog 1cytoskeleton-like bicaudal D protein homolog 1retroelement silencing factor 1gonad expressed transcriptuncharacterized protein C12orf35
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000281474, ENST00000548411, 
ENST00000550207, ENST00000551086, 
ENST00000551848, 		ENST00000535596, 
ENST00000312561, 
Fusion gene scores* DoF score22 X 18 X 10=39604 X 4 X 4=64
# samples 254
** MAII scorelog2(25/3960*10)=-3.98550043030488
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BICD1 [Title/Abstract] AND KIAA1551 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBICD1(32369393)-KIAA1551(32133812), # samples:1
BICD1(32369393)-KIAA1551(32145312), # 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
HgeneBICD1

GO:0033365

protein localization to organelle

12447383|20089649


check buttonFusion gene breakpoints across BICD1 (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 KIAA1551 (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
ChimerDB4UCSTCGA-N8-A4PPBICD1chr12

32369393

+KIAA1551chr12

32133812

+
ChimerDB4UCSTCGA-N8-A4PPBICD1chr12

32369393

+KIAA1551chr12

32145312

+


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Fusion Gene ORF analysis for BICD1-KIAA1551

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-3UTRENST00000281474ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32145312

+
5CDS-3UTRENST00000548411ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32145312

+
5CDS-5UTRENST00000281474ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32133812

+
5CDS-5UTRENST00000548411ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32133812

+
5CDS-intronENST00000281474ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32133812

+
5CDS-intronENST00000548411ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32133812

+
In-frameENST00000281474ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32145312

+
In-frameENST00000548411ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3CDSENST00000550207ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3CDSENST00000551086ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3CDSENST00000551848ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3UTRENST00000550207ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3UTRENST00000551086ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-3UTRENST00000551848ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32145312

+
intron-5UTRENST00000550207ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32133812

+
intron-5UTRENST00000551086ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32133812

+
intron-5UTRENST00000551848ENST00000312561BICD1chr12

32369393

+KIAA1551chr12

32133812

+
intron-intronENST00000550207ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32133812

+
intron-intronENST00000551086ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32133812

+
intron-intronENST00000551848ENST00000535596BICD1chr12

32369393

+KIAA1551chr12

32133812

+

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)
ENST00000548411BICD1chr1232369393+ENST00000312561KIAA1551chr1232145312+1335607160678172
ENST00000281474BICD1chr1232369393+ENST00000312561KIAA1551chr1232145312+125752982600172

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
ENST00000548411ENST00000312561BICD1chr1232369393+KIAA1551chr1232145312+0.0022198590.99778014
ENST00000281474ENST00000312561BICD1chr1232369393+KIAA1551chr1232145312+0.002997680.9970023

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Fusion Genomic Features for BICD1-KIAA1551


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)
BICD1chr1232369393+KIAA1551chr1232145311+0.0002668970.99973315
BICD1chr1232369393+KIAA1551chr1232133811+8.72E-070.99999917
BICD1chr1232369393+KIAA1551chr1232145311+0.0002668970.99973315
BICD1chr1232369393+KIAA1551chr1232133811+8.72E-070.99999917

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.
genomic feature of top 1%

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Fusion Protein Features for BICD1-KIAA1551


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/chr12:32369393/chr12:32133812)
- 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
HgeneBICD1chr12:32369393chr12:32145312ENST00000281474+2101_265142976.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000281474+210319_496142976.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000281474+210663_803142976.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000548411+291_2651422736.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000548411+29319_4961422736.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000548411+29663_8031422736.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000551848+111_265094.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000551848+11319_496094.0Coiled coilOntology_term=ECO:0000255
HgeneBICD1chr12:32369393chr12:32145312ENST00000551848+11663_803094.0Coiled coilOntology_term=ECO:0000255


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Fusion Gene Sequence for BICD1-KIAA1551


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.
>9690_9690_1_BICD1-KIAA1551_BICD1_chr12_32369393_ENST00000281474_KIAA1551_chr12_32145312_ENST00000312561_length(transcript)=1257nt_BP=529nt
CCGTTTCCACCCATCCCTTCCCATTTCCTTCTCCCTTTCCCCGCCAGCTTCGCATCCATCTCCCCCACCCCGTAACCCCCTCCTGCCTCC
ATCCACCGGGGCTATGGCCGCAGAAGAGGTATTGCAGACGGTGGACCATTATAAGACTGAGATAGAGAGGCTAACCAAGGAGCTCACGGA
GACCACCCACGAGAAGATCCAGGCTGCCGAGTACGGGCTGGTGGTGCTGGAGGAGAAGCTGACCCTCAAACAGCAGTATGATGAACTGGA
GGCTGAGTACGACAGCCTCAAACAGGAGCTGGAGCAGCTCAAAGAGGCATTTGGGCAGTCCTTCTCCATCCACCGGAAGGTTGCTGAAGA
TGGAGAGACTCGGGAGGAAACGCTTCTGCAGGAGTCAGCATCGAAGGAGGCTTACTATCTGGGGAAGATCTTGGAGATGCAGAACGAGCT
GAAACAGAGCCGGGCTGTGGTCACTAATGTACAGGCAGAAAACGAGAGGCTCACCGCAGTCGTGCAGGATCTGAAGGAGATAATGTTAAT
TCAAGACTCTCGAAGAGAAGCTTCAGTGCAGATGGATTTGAGATGCTACAAAACCCAGTAAAAGATTCAAAAGAAATGTTTCAAACCTAC
AAACAGATGTACCTGGAGAAGAGAAGCAGAAGCCTTGGTAGCAGTCCTGTAAAATAATTACAAGATGTGGTTTTGTAATTGCCACTGGGA
AATTTCTTTCCTTTTCTGTTCAAAATATTTCGCTGAAACTAATGAGAAATGCCATGATAAAGATTTCTCAGAGTTTGGTTCCCACTTTCA
TTGTATTTCATTGAAAGTGCTTAATTAAAATGGCTTGAGAACTTTGGGTAGCCATGTGTAAGAAATGGATGGTATTCACCGGGGAAACAA
GGTATTTGAATTTCTACTTTATTGAACCAGATTTACCATTATTTTAAAAGGAATGCTTATACAAATCAATTTGAAATTCTACCCATCTTG
AGGGAGGACCGTTCCTCAGTTAAGGACTTGTTTATTTAAATGGGACTGTAAATATGTTTTGGTTTCTAAGCTATATTAGCAAAATTTATT
TTTCAAAAATGCCCACTGTGATGTGAATGTCAAAATATATTCTTAAGTGTTTTATAACTAATTGTAAACTTTTTTTCAGAAGTCTTATTT

>9690_9690_1_BICD1-KIAA1551_BICD1_chr12_32369393_ENST00000281474_KIAA1551_chr12_32145312_ENST00000312561_length(amino acids)=172AA_BP=149
MPPSTGAMAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQSFSIHRKV

--------------------------------------------------------------
>9690_9690_2_BICD1-KIAA1551_BICD1_chr12_32369393_ENST00000548411_KIAA1551_chr12_32145312_ENST00000312561_length(transcript)=1335nt_BP=607nt
CTCGGGCGGTGTAGCTGCCGCTGCCACCAGAGCCGGCGGGGCATCGCGCTGCTCATTCATCCGGCCGCACTTTCTTTTCCGTTTCCACCC
ATCCCTTCCCATTTCCTTCTCCCTTTCCCCGCCAGCTTCGCATCCATCTCCCCCACCCCGTAACCCCCTCCTGCCTCCATCCACCGGGGC
TATGGCCGCAGAAGAGGTATTGCAGACGGTGGACCATTATAAGACTGAGATAGAGAGGCTAACCAAGGAGCTCACGGAGACCACCCACGA
GAAGATCCAGGCTGCCGAGTACGGGCTGGTGGTGCTGGAGGAGAAGCTGACCCTCAAACAGCAGTATGATGAACTGGAGGCTGAGTACGA
CAGCCTCAAACAGGAGCTGGAGCAGCTCAAAGAGGCATTTGGGCAGTCCTTCTCCATCCACCGGAAGGTTGCTGAAGATGGAGAGACTCG
GGAGGAAACGCTTCTGCAGGAGTCAGCATCGAAGGAGGCTTACTATCTGGGGAAGATCTTGGAGATGCAGAACGAGCTGAAACAGAGCCG
GGCTGTGGTCACTAATGTACAGGCAGAAAACGAGAGGCTCACCGCAGTCGTGCAGGATCTGAAGGAGATAATGTTAATTCAAGACTCTCG
AAGAGAAGCTTCAGTGCAGATGGATTTGAGATGCTACAAAACCCAGTAAAAGATTCAAAAGAAATGTTTCAAACCTACAAACAGATGTAC
CTGGAGAAGAGAAGCAGAAGCCTTGGTAGCAGTCCTGTAAAATAATTACAAGATGTGGTTTTGTAATTGCCACTGGGAAATTTCTTTCCT
TTTCTGTTCAAAATATTTCGCTGAAACTAATGAGAAATGCCATGATAAAGATTTCTCAGAGTTTGGTTCCCACTTTCATTGTATTTCATT
GAAAGTGCTTAATTAAAATGGCTTGAGAACTTTGGGTAGCCATGTGTAAGAAATGGATGGTATTCACCGGGGAAACAAGGTATTTGAATT
TCTACTTTATTGAACCAGATTTACCATTATTTTAAAAGGAATGCTTATACAAATCAATTTGAAATTCTACCCATCTTGAGGGAGGACCGT
TCCTCAGTTAAGGACTTGTTTATTTAAATGGGACTGTAAATATGTTTTGGTTTCTAAGCTATATTAGCAAAATTTATTTTTCAAAAATGC
CCACTGTGATGTGAATGTCAAAATATATTCTTAAGTGTTTTATAACTAATTGTAAACTTTTTTTCAGAAGTCTTATTTTATACTTGTGAA

>9690_9690_2_BICD1-KIAA1551_BICD1_chr12_32369393_ENST00000548411_KIAA1551_chr12_32145312_ENST00000312561_length(amino acids)=172AA_BP=149
MPPSTGAMAAEEVLQTVDHYKTEIERLTKELTETTHEKIQAAEYGLVVLEEKLTLKQQYDELEAEYDSLKQELEQLKEAFGQSFSIHRKV

--------------------------------------------------------------

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Fusion Gene PPI Analysis for BICD1-KIAA1551


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 BICD1-KIAA1551


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 BICD1-KIAA1551


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