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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6556

FusionGeneSummary for CDK4_AVIL

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK4_AVIL
Fusion gene ID: 6556
HgeneTgene
Gene symbol

CDK4

AVIL

Gene ID

1019

10677

Gene namecyclin dependent kinase 4advillin
SynonymsCMM3|PSK-J3ADVIL|DOC6|p92
Cytomap

12q14.1

12q14.1

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 4cell division protein kinase 4advillin
Modification date2018052320180519
UniProtAcc

P11802

O75366

Ensembl transtripts involved in fusion geneENST00000257904, ENST00000312990, 
ENST00000549606, ENST00000540325, 
ENST00000551888, 
ENST00000537081, 
ENST00000257861, ENST00000550083, 
Fusion gene scores* DoF score4 X 4 X 3=4815 X 10 X 6=900
# samples 416
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(16/900*10)=-2.49185309632967
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDK4 [Title/Abstract] AND AVIL [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationOncogene involved fusion gene, in-frame and retained their domain.
* 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
HgeneCDK4

GO:0006468

protein phosphorylation

8114739

HgeneCDK4

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

HgeneCDK4

GO:0071157

negative regulation of cell cycle arrest

19124461


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDLGGTCGA-E1-A7YL-01ACDK4chr12

58144706

-AVILchr12

58193703

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000257904ENST00000537081CDK4chr12

58144706

-AVILchr12

58193703

-
In-frameENST00000257904ENST00000257861CDK4chr12

58144706

-AVILchr12

58193703

-
5CDS-intronENST00000257904ENST00000550083CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000312990ENST00000537081CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000312990ENST00000257861CDK4chr12

58144706

-AVILchr12

58193703

-
intron-intronENST00000312990ENST00000550083CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000549606ENST00000537081CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000549606ENST00000257861CDK4chr12

58144706

-AVILchr12

58193703

-
intron-intronENST00000549606ENST00000550083CDK4chr12

58144706

-AVILchr12

58193703

-
Frame-shitENST00000540325ENST00000537081CDK4chr12

58144706

-AVILchr12

58193703

-
Frame-shitENST00000540325ENST00000257861CDK4chr12

58144706

-AVILchr12

58193703

-
5CDS-intronENST00000540325ENST00000550083CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000551888ENST00000537081CDK4chr12

58144706

-AVILchr12

58193703

-
intron-3CDSENST00000551888ENST00000257861CDK4chr12

58144706

-AVILchr12

58193703

-
intron-intronENST00000551888ENST00000550083CDK4chr12

58144706

-AVILchr12

58193703

-

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FusionProtFeatures for CDK4_AVIL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDK4

P11802

AVIL

O75366

Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexesthat phosphorylate and inhibit members of the retinoblastoma (RB)protein family including RB1 and regulate the cell-cycle duringG(1)/S transition. Phosphorylation of RB1 allows dissociation ofthe transcription factor E2F from the RB/E2F complexes and thesubsequent transcription of E2F target genes which are responsiblefor the progression through the G(1) phase. Hypophosphorylates RB1in early G(1) phase. Cyclin D-CDK4 complexes are major integratorsof various mitogenenic and antimitogenic signals. Alsophosphorylates SMAD3 in a cell-cycle-dependent manner andrepresses its transcriptional activity. Component of the ternarycomplex, cyclin D/CDK4/CDKN1B, required for nuclear translocationand activity of the cyclin D-CDK4 complex.{ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403,ECO:0000269|PubMed:9003781}. Ca(2+)-regulated actin-binding protein. May have aunique function in the morphogenesis of neuronal cells which formganglia. Required for SREC1-mediated regulation of neurite-likeoutgrowth. Plays a role in regenerative sensory axon outgrowth andremodeling processes after peripheral injury in neonates. Involvedin the formation of long fine actin-containing filopodia-likestructures in fibroblast. Plays a role in ciliogenesis.{ECO:0000269|PubMed:20393563}.

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
HgeneCDK4chr12:58144706chr12:58193703ENST00000257904-4842_48174304Compositional biasNote=Poly-Gly
HgeneCDK4chr12:58144706chr12:58193703ENST00000257904-4812_20174304Nucleotide bindingATP
HgeneCDK4chr12:58144706chr12:58193703ENST00000257904-4850_56174304RegionNote=Required for binding D-type cyclins
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619753_819740820DomainHP
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619753_819733813DomainHP
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619731_819733813RegionHeadpiece

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDK4chr12:58144706chr12:58193703ENST00000257904-486_295174304DomainProtein kinase
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619109_116740820RegionPolyphosphoinositide binding
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619135_143740820RegionPolyphosphoinositide binding
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-16191_731740820RegionCore
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619731_819740820RegionHeadpiece
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619109_116733813RegionPolyphosphoinositide binding
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619135_143733813RegionPolyphosphoinositide binding
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-16191_731733813RegionCore
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619145_185740820RepeatNote=Gelsolin-like 2
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-161924_73740820RepeatNote=Gelsolin-like 1
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619262_306740820RepeatNote=Gelsolin-like 3
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619403_454740820RepeatNote=Gelsolin-like 4
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619525_565740820RepeatNote=Gelsolin-like 5
TgeneAVILchr12:58144706chr12:58193703ENST00000257861-1619628_669740820RepeatNote=Gelsolin-like 6
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619145_185733813RepeatNote=Gelsolin-like 2
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-161924_73733813RepeatNote=Gelsolin-like 1
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619262_306733813RepeatNote=Gelsolin-like 3
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619403_454733813RepeatNote=Gelsolin-like 4
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619525_565733813RepeatNote=Gelsolin-like 5
TgeneAVILchr12:58144706chr12:58193703ENST00000537081-1619628_669733813RepeatNote=Gelsolin-like 6


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FusionGeneSequence for CDK4_AVIL


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for CDK4_AVIL


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
CDK4CDKN2D, VTA1, CDKN2B, CCND3, CDKN2C, CDC37, CDKN2A, RPRM, ACTR3B, DBNL, SMC3, GEMIN4, UBXN1, SMC1A, LYN, SERTAD1, BAG6, SETDB1, CAPNS1, CCND1, PCNA, CCND2, CDKN1B, CNOT7, RFC1, BRCA1, CEBPA, MYOD1, BIRC5, CDKN1A, RB1, SP1, SAP25, CDT1, HSPA8, NCOA2, TSPYL2, WDR77, PRMT5, ARID4A, PPP2R1B, PPP2R1A, UHRF2, IRF8, DAZAP2, SNCA, TK1, APLP1, DDAH2, ZBTB16, QARS, HMGXB3, TRMT2A, ATP5B, PKM, LUC7L2, ANXA7, HSP90AA1, HIST1H1D, PSMD9, HIST1H1A, CDK5R1, ARRB2, MARCKS, RPL34, PSMA6, CCNE1, CCNA2, PPP1CA, CUL3, CUL4B, CUL1, COPS5, COPS6, H1F0, PSMD10, APP, UBTF, POLD1, VCP, SMAD3, SMAD2, FOXM1, CDC6, GLI1, MYC, OTX2, RBL1, RBL2, SHOX2, MZF1, SLBP, ANKRD12, SENP3, ZNF219, BCL11A, WDR33, ZNF335, ZNF101, MCM2, CDC7, UCHL1, KLHL32, CAMK1, PTMA, IL15RA, DUSP9, PGD, SKP1, CIB1, MAPRE2, CDK13, TARDBP, HSP90AB1, CDK6, TRAP1, FKBP5, RELA, HOOK1, LIMK2, RCAN3, HSP90AB4P, HSP90AB3P, HSP90AA5P, OGFR, EIF1AX, GUSB, OGFRL1, JAK3, GFER, VSIG8, NTRK1, ANKRA2, CEP135, IQGAP1, SMTN, SORBS1, NUP133, ZNFX1, ZC3H14, TMEM126A, ASPM, UBXN10, VHL, HDAC1, PRKDC, CHEK2, ERBB2, BCL2, TOP1, PTEN, YBX3, USP17L2, FNIP1, FNIP2, MTMR14, MTMR8, VTN, PTPN1, PTPN21, DNAJC9, E2F4, CDKN1CAVILCRK, RBSN, DDX11, DUS3L, FIGNL1, SCYL1, DOCK7, VIL1, TMOD2, RICTOR, RIPK4, DCTN6, MCM8, THUMPD3, BRIP1, MYO5C, ALMS1, MYO1F, TUBA4A, TUBB8, MYO1B, MYO5A, USP47, C14orf80, TUBB3, DDX11L8, WDR59, BBS1


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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RelatedDrugs for CDK4_AVIL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCDK4P11802DB09073PalbociclibCyclin-dependent kinase 4small moleculeapproved|investigational

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RelatedDiseases for CDK4_AVIL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDK4C0024668Mammary Neoplasms, Experimental3CTD_human
HgeneCDK4C1836892MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 33CTD_human;UNIPROT
HgeneCDK4C0023827liposarcoma2CTD_human
HgeneCDK4C0024667Animal Mammary Neoplasms2CTD_human
HgeneCDK4C0006118Brain Neoplasms1CTD_human
HgeneCDK4C0027659Neoplasms, Experimental1CTD_human
HgeneCDK4C0038356Stomach Neoplasms1CTD_human
HgeneCDK4C0677866Brain Stem Neoplasms1CTD_human
HgeneCDK4C2239176Liver carcinoma1CTD_human