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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-CDK6 (FusionGDB2 ID:HG636TG1021)

Fusion Gene Summary for BICD1-CDK6

check button Fusion gene summary
Fusion gene informationFusion gene name: BICD1-CDK6
Fusion gene ID: hg636tg1021
HgeneTgene
Gene symbol

BICD1

CDK6

Gene ID

636

1021

Gene nameBICD cargo adaptor 1cyclin dependent kinase 6
SynonymsBICD|bic-D 1MCPH12|PLSTIRE
Cytomap('BICD1')('CDK6')

12p11.21

7q21.2

Type of geneprotein-codingprotein-coding
Descriptionprotein bicaudal D homolog 1bicaudal D homolog 1cytoskeleton-like bicaudal D protein homolog 1cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE
Modification date2020031320200329
UniProtAcc

Q96G01

Q00534

Ensembl transtripts involved in fusion geneENST00000281474, ENST00000548411, 
ENST00000550207, ENST00000551086, 
ENST00000551848, 
Fusion gene scores* DoF score22 X 18 X 10=396010 X 11 X 5=550
# samples 2511
** MAII scorelog2(25/3960*10)=-3.98550043030488
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/550*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BICD1 [Title/Abstract] AND CDK6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBICD1(32260478)-CDK6(92247521), # samples:1
BICD1(32260478)-CDK6(92252400), # samples:1
Anticipated loss of major functional domain due to fusion event.BICD1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
BICD1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BICD1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
BICD1-CDK6 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
HgeneBICD1

GO:0033365

protein localization to organelle

12447383|20089649

TgeneCDK6

GO:0001954

positive regulation of cell-matrix adhesion

10205165

TgeneCDK6

GO:0003323

type B pancreatic cell development

20668294

TgeneCDK6

GO:0006468

protein phosphorylation

8114739

TgeneCDK6

GO:0010468

regulation of gene expression

15254224

TgeneCDK6

GO:0045638

negative regulation of myeloid cell differentiation

17431401

TgeneCDK6

GO:0045656

negative regulation of monocyte differentiation

26542173

TgeneCDK6

GO:0045668

negative regulation of osteoblast differentiation

15254224

TgeneCDK6

GO:0045786

negative regulation of cell cycle

14985467

TgeneCDK6

GO:2000773

negative regulation of cellular senescence

17420273



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
ChimerDB4LUADTCGA-44-7670-01ABICD1chr12

32260478

+CDK6chr7

92247521

-
ChimerDB4LUADTCGA-44-7670-01ABICD1chr12

32260478

-CDK6chr7

92252400

-


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Fusion Gene ORF analysis for BICD1-CDK6

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-intronENST00000281474ENST00000491250BICD1chr12

32260478

+CDK6chr7

92247521

-
5CDS-intronENST00000281474ENST00000491250BICD1chr12

32260478

-CDK6chr7

92252400

-
5CDS-intronENST00000548411ENST00000491250BICD1chr12

32260478

+CDK6chr7

92247521

-
5CDS-intronENST00000548411ENST00000491250BICD1chr12

32260478

-CDK6chr7

92252400

-
5CDS-intronENST00000550207ENST00000491250BICD1chr12

32260478

+CDK6chr7

92247521

-
5CDS-intronENST00000550207ENST00000491250BICD1chr12

32260478

-CDK6chr7

92252400

-
5CDS-intronENST00000551086ENST00000491250BICD1chr12

32260478

+CDK6chr7

92247521

-
5CDS-intronENST00000551086ENST00000491250BICD1chr12

32260478

-CDK6chr7

92252400

-
5CDS-intronENST00000551848ENST00000491250BICD1chr12

32260478

+CDK6chr7

92247521

-
5CDS-intronENST00000551848ENST00000491250BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000281474ENST00000265734BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000281474ENST00000265734BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000281474ENST00000424848BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000281474ENST00000424848BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000548411ENST00000265734BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000548411ENST00000265734BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000548411ENST00000424848BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000548411ENST00000424848BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000550207ENST00000265734BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000550207ENST00000265734BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000550207ENST00000424848BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000550207ENST00000424848BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000551086ENST00000265734BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000551086ENST00000265734BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000551086ENST00000424848BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000551086ENST00000424848BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000551848ENST00000265734BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000551848ENST00000265734BICD1chr12

32260478

-CDK6chr7

92252400

-
Frame-shiftENST00000551848ENST00000424848BICD1chr12

32260478

+CDK6chr7

92247521

-
Frame-shiftENST00000551848ENST00000424848BICD1chr12

32260478

-CDK6chr7

92252400

-

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 BICD1-CDK6


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 BICD1-CDK6


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/:32260478/:92247521)
- 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
BICD1

Q96G01

CDK6

Q00534

FUNCTION: Regulates coat complex coatomer protein I (COPI)-independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex.FUNCTION: Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663). {ECO:0000269|PubMed:12833137, ECO:0000269|PubMed:14985467, ECO:0000269|PubMed:15254224, ECO:0000269|PubMed:15809340, ECO:0000269|PubMed:17420273, ECO:0000269|PubMed:17431401, ECO:0000269|PubMed:20333249, ECO:0000269|PubMed:20668294, ECO:0000269|PubMed:23918663, ECO:0000269|PubMed:8114739}.

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 BICD1-CDK6


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 BICD1-CDK6


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-CDK6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCDK6Q00534DB09073PalbociclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK6Q00534DB09073PalbociclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK6Q00534DB11730RibociclibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneCDK6Q00534DB11730RibociclibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneCDK6Q00534DB12001AbemaciclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK6Q00534DB12001AbemaciclibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for BICD1-CDK6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0004238Atrial Fibrillation2CTD_human
TgeneC0025149Medulloblastoma2CTD_human
TgeneC0205833Medullomyoblastoma2CTD_human
TgeneC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneC0278510Childhood Medulloblastoma2CTD_human
TgeneC0278876Adult Medulloblastoma2CTD_human
TgeneC0751291Desmoplastic Medulloblastoma2CTD_human
TgeneC1275668Melanotic medulloblastoma2CTD_human
TgeneC2585653Persistent atrial fibrillation2CTD_human
TgeneC3468561familial atrial fibrillation2CTD_human
TgeneC0002871Anemia1CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0004403Autosome Abnormalities1CTD_human
TgeneC0008625Chromosome Aberrations1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0024668Mammary Neoplasms, Experimental1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0038454Cerebrovascular accident1CTD_human
TgeneC0263454Chloracne1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0345967Malignant mesothelioma1CTD_human
TgeneC0677866Brain Stem Neoplasms1CTD_human
TgeneC0751886Brain Stem Neoplasms, Primary1CTD_human
TgeneC0751887Medullary Neoplasms1CTD_human
TgeneC0751888Mesencephalic Neoplasms1CTD_human
TgeneC0751889Pontine Tumors1CTD_human
TgeneC0751956Acute Cerebrovascular Accidents1CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC3711387Autosomal Recessive Primary Microcephaly1ORPHANET
TgeneC4015156MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE1CTD_human;GENOMICS_ENGLAND;UNIPROT