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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:BICD1-CDK6 (FusionGDB2 ID:HG636TG1021) |
Fusion Gene Summary for BICD1-CDK6 |
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Fusion gene information | Fusion gene name: BICD1-CDK6 | Fusion gene ID: hg636tg1021 | Hgene | Tgene | Gene symbol | BICD1 | CDK6 | Gene ID | 636 | 1021 |
Gene name | BICD cargo adaptor 1 | cyclin dependent kinase 6 | |
Synonyms | BICD|bic-D 1 | MCPH12|PLSTIRE | |
Cytomap | ('BICD1')('CDK6') 12p11.21 | 7q21.2 | |
Type of gene | protein-coding | protein-coding | |
Description | protein bicaudal D homolog 1bicaudal D homolog 1cytoskeleton-like bicaudal D protein homolog 1 | cyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIRE | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | Q96G01 | Q00534 | |
Ensembl transtripts involved in fusion gene | ENST00000281474, ENST00000548411, ENST00000550207, ENST00000551086, ENST00000551848, | ||
Fusion gene scores | * DoF score | 22 X 18 X 10=3960 | 10 X 11 X 5=550 |
# samples | 25 | 11 | |
** MAII score | log2(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 breakpoint | BICD1(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | BICD1 | GO:0033365 | protein localization to organelle | 12447383|20089649 |
Tgene | CDK6 | GO:0001954 | positive regulation of cell-matrix adhesion | 10205165 |
Tgene | CDK6 | GO:0003323 | type B pancreatic cell development | 20668294 |
Tgene | CDK6 | GO:0006468 | protein phosphorylation | 8114739 |
Tgene | CDK6 | GO:0010468 | regulation of gene expression | 15254224 |
Tgene | CDK6 | GO:0045638 | negative regulation of myeloid cell differentiation | 17431401 |
Tgene | CDK6 | GO:0045656 | negative regulation of monocyte differentiation | 26542173 |
Tgene | CDK6 | GO:0045668 | negative regulation of osteoblast differentiation | 15254224 |
Tgene | CDK6 | GO:0045786 | negative regulation of cell cycle | 14985467 |
Tgene | CDK6 | GO:2000773 | negative regulation of cellular senescence | 17420273 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | LUAD | TCGA-44-7670-01A | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
ChimerDB4 | LUAD | TCGA-44-7670-01A | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
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Fusion Gene ORF analysis for BICD1-CDK6 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000281474 | ENST00000491250 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
5CDS-intron | ENST00000281474 | ENST00000491250 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
5CDS-intron | ENST00000548411 | ENST00000491250 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
5CDS-intron | ENST00000548411 | ENST00000491250 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
5CDS-intron | ENST00000550207 | ENST00000491250 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
5CDS-intron | ENST00000550207 | ENST00000491250 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
5CDS-intron | ENST00000551086 | ENST00000491250 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
5CDS-intron | ENST00000551086 | ENST00000491250 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
5CDS-intron | ENST00000551848 | ENST00000491250 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
5CDS-intron | ENST00000551848 | ENST00000491250 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000281474 | ENST00000265734 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000281474 | ENST00000265734 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000281474 | ENST00000424848 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000281474 | ENST00000424848 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000548411 | ENST00000265734 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000548411 | ENST00000265734 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000548411 | ENST00000424848 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000548411 | ENST00000424848 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000550207 | ENST00000265734 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000550207 | ENST00000265734 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000550207 | ENST00000424848 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000550207 | ENST00000424848 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000551086 | ENST00000265734 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000551086 | ENST00000265734 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000551086 | ENST00000424848 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000551086 | ENST00000424848 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000551848 | ENST00000265734 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000551848 | ENST00000265734 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
Frame-shift | ENST00000551848 | ENST00000424848 | BICD1 | chr12 | 32260478 | + | CDK6 | chr7 | 92247521 | - |
Frame-shift | ENST00000551848 | ENST00000424848 | BICD1 | chr12 | 32260478 | - | CDK6 | chr7 | 92252400 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for BICD1-CDK6 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for BICD1-CDK6 |
![]() 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. |
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Hgene | Tgene |
BICD1 | CDK6 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for BICD1-CDK6 |
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Fusion Gene PPI Analysis for BICD1-CDK6 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for BICD1-CDK6 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | CDK6 | Q00534 | DB09073 | Palbociclib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | CDK6 | Q00534 | DB09073 | Palbociclib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | CDK6 | Q00534 | DB11730 | Ribociclib | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Tgene | CDK6 | Q00534 | DB11730 | Ribociclib | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Tgene | CDK6 | Q00534 | DB12001 | Abemaciclib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | CDK6 | Q00534 | DB12001 | Abemaciclib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for BICD1-CDK6 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0004238 | Atrial Fibrillation | 2 | CTD_human | |
Tgene | C0025149 | Medulloblastoma | 2 | CTD_human | |
Tgene | C0205833 | Medullomyoblastoma | 2 | CTD_human | |
Tgene | C0235480 | Paroxysmal atrial fibrillation | 2 | CTD_human | |
Tgene | C0278510 | Childhood Medulloblastoma | 2 | CTD_human | |
Tgene | C0278876 | Adult Medulloblastoma | 2 | CTD_human | |
Tgene | C0751291 | Desmoplastic Medulloblastoma | 2 | CTD_human | |
Tgene | C1275668 | Melanotic medulloblastoma | 2 | CTD_human | |
Tgene | C2585653 | Persistent atrial fibrillation | 2 | CTD_human | |
Tgene | C3468561 | familial atrial fibrillation | 2 | CTD_human | |
Tgene | C0002871 | Anemia | 1 | CTD_human | |
Tgene | C0003873 | Rheumatoid Arthritis | 1 | CTD_human | |
Tgene | C0004403 | Autosome Abnormalities | 1 | CTD_human | |
Tgene | C0008625 | Chromosome Aberrations | 1 | CTD_human | |
Tgene | C0017636 | Glioblastoma | 1 | CTD_human | |
Tgene | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human | |
Tgene | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human | |
Tgene | C0038454 | Cerebrovascular accident | 1 | CTD_human | |
Tgene | C0263454 | Chloracne | 1 | CTD_human | |
Tgene | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human | |
Tgene | C0345967 | Malignant mesothelioma | 1 | CTD_human | |
Tgene | C0677866 | Brain Stem Neoplasms | 1 | CTD_human | |
Tgene | C0751886 | Brain Stem Neoplasms, Primary | 1 | CTD_human | |
Tgene | C0751887 | Medullary Neoplasms | 1 | CTD_human | |
Tgene | C0751888 | Mesencephalic Neoplasms | 1 | CTD_human | |
Tgene | C0751889 | Pontine Tumors | 1 | CTD_human | |
Tgene | C0751956 | Acute Cerebrovascular Accidents | 1 | CTD_human | |
Tgene | C1168401 | Squamous cell carcinoma of the head and neck | 1 | CTD_human | |
Tgene | C1621958 | Glioblastoma Multiforme | 1 | CTD_human | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human | |
Tgene | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human | |
Tgene | C3711387 | Autosomal Recessive Primary Microcephaly | 1 | ORPHANET | |
Tgene | C4015156 | MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE | 1 | CTD_human;GENOMICS_ENGLAND;UNIPROT |