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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:DAB1-CDK4 (FusionGDB2 ID:21199)

Fusion Gene Summary for DAB1-CDK4

check button Fusion gene summary
Fusion gene informationFusion gene name: DAB1-CDK4
Fusion gene ID: 21199
HgeneTgene
Gene symbol

DAB1

CDK4

Gene ID

352909

1019

Gene namedynein axonemal assembly factor 3cyclin dependent kinase 4
SynonymsC19orf51|CILD2|DAB1|PCD|PF22CMM3|PSK-J3
Cytomap

19q13.42

12q14.1

Type of geneprotein-codingprotein-coding
Descriptiondynein assembly factor 3, axonemalUPF0470 protein C19orf51cyclin-dependent kinase 4cell division protein kinase 4
Modification date2020031320200329
UniProtAcc.

P11802

Ensembl transtripts involved in fusion geneENST00000485760, ENST00000371236, 
ENST00000371234, ENST00000420954, 
ENST00000439789, ENST00000414851, 
ENST00000371231, ENST00000371230, 
ENST00000257904, ENST00000312990, 
ENST00000549606, ENST00000540325, 
ENST00000551888, 
Fusion gene scores* DoF score23 X 22 X 4=202412 X 10 X 4=480
# samples 2112
** MAII scorelog2(21/2024*10)=-3.26874805702819
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(12/480*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAB1 [Title/Abstract] AND CDK4 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAB1(58971732)-CDK4(58142400), # 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
TgeneCDK4

GO:0006468

protein phosphorylation

8114739

TgeneCDK4

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

TgeneCDK4

GO:0071157

negative regulation of cell cycle arrest

19124461


check buttonFusion gene breakpoints across DAB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across CDK4 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4SARCTCGA-DX-A23V-01ADAB1chr1

58971732

-CDK4chr12

58142400

-


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Fusion Gene ORF analysis for DAB1-CDK4

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
5UTR-3CDSENST00000485760ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
5UTR-3UTRENST00000485760ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
5UTR-3UTRENST00000485760ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
5UTR-3UTRENST00000485760ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
5UTR-intronENST00000485760ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000371236ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371236ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371236ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371236ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000371236ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000371234ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371234ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371234ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371234ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000371234ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000420954ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000420954ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000420954ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000420954ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000420954ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000439789ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000439789ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000439789ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000439789ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000439789ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000414851ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000414851ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000414851ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000414851ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000414851ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000371231ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371231ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371231ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371231ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000371231ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3CDSENST00000371230ENST00000257904DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371230ENST00000312990DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371230ENST00000549606DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-3UTRENST00000371230ENST00000540325DAB1chr1

58971732

-CDK4chr12

58142400

-
intron-intronENST00000371230ENST00000551888DAB1chr1

58971732

-CDK4chr12

58142400

-

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 DAB1-CDK4


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.

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 DAB1-CDK4


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

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

P11802

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Ser/Thr-kinase component of cyclin D-CDK4 (DC) complexes that phosphorylate and inhibit members of the retinoblastoma (RB) protein family including RB1 and regulate the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complexes and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also phosphorylates SMAD3 in a cell-cycle-dependent manner and represses its transcriptional activity. Component of the ternary complex, cyclin D/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:18827403, ECO:0000269|PubMed:9003781}.

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 DAB1-CDK4


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 DAB1-CDK4


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 DAB1-CDK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCDK4P11802DB09073PalbociclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB11730RibociclibAntagonist|InhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB12001AbemaciclibInhibitorSmall moleculeApproved|Investigational
TgeneCDK4P11802DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for DAB1-CDK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAB1C3889636SPINOCEREBELLAR ATAXIA 372GENOMICS_ENGLAND;ORPHANET
HgeneDAB1C0004352Autistic Disorder1CTD_human
TgeneCDK4C1836892MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 39CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCDK4C0024668Mammary Neoplasms, Experimental3CTD_human
TgeneCDK4C0007097Carcinoma2CTD_human
TgeneCDK4C0023827liposarcoma2CGI;CTD_human
TgeneCDK4C0024667Animal Mammary Neoplasms2CTD_human
TgeneCDK4C0205696Anaplastic carcinoma2CTD_human
TgeneCDK4C0205697Carcinoma, Spindle-Cell2CTD_human
TgeneCDK4C0205698Undifferentiated carcinoma2CTD_human
TgeneCDK4C0205699Carcinomatosis2CTD_human
TgeneCDK4C0205824Liposarcoma, Dedifferentiated2CTD_human;ORPHANET
TgeneCDK4C0205825Liposarcoma, Pleomorphic2CTD_human
TgeneCDK4C1257925Mammary Carcinoma, Animal2CTD_human
TgeneCDK4C1370889Liposarcoma, well differentiated2CTD_human;ORPHANET
TgeneCDK4C0006118Brain Neoplasms1CTD_human
TgeneCDK4C0024623Malignant neoplasm of stomach1CTD_human
TgeneCDK4C0027659Neoplasms, Experimental1CTD_human
TgeneCDK4C0038356Stomach Neoplasms1CTD_human
TgeneCDK4C0153633Malignant neoplasm of brain1CTD_human
TgeneCDK4C0496899Benign neoplasm of brain, unspecified1CTD_human
TgeneCDK4C0677866Brain Stem Neoplasms1CTD_human
TgeneCDK4C0750974Brain Tumor, Primary1CTD_human
TgeneCDK4C0750977Recurrent Brain Neoplasm1CTD_human
TgeneCDK4C0750979Primary malignant neoplasm of brain1CTD_human
TgeneCDK4C0751886Brain Stem Neoplasms, Primary1CTD_human
TgeneCDK4C0751887Medullary Neoplasms1CTD_human
TgeneCDK4C0751888Mesencephalic Neoplasms1CTD_human
TgeneCDK4C0751889Pontine Tumors1CTD_human
TgeneCDK4C1168401Squamous cell carcinoma of the head and neck1CTD_human
TgeneCDK4C1527390Neoplasms, Intracranial1CTD_human
TgeneCDK4C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneCDK4C2239176Liver carcinoma1CTD_human
TgeneCDK4C2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET