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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:DMXL2-CDKN2A (FusionGDB2 ID:HG23312TG1029)

Fusion Gene Summary for DMXL2-CDKN2A

check button Fusion gene summary
Fusion gene informationFusion gene name: DMXL2-CDKN2A
Fusion gene ID: hg23312tg1029
HgeneTgene
Gene symbol

DMXL2

CDKN2A

Gene ID

23312

1029

Gene nameDmx like 2cyclin dependent kinase inhibitor 2A
SynonymsDFNA71|EIEE81|PEPNS|RC3ARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16
Cytomap('DMXL2')('CDKN2A')

15q21.2

9p21.3

Type of geneprotein-codingprotein-coding
DescriptiondmX-like protein 2rabconnectin-3cyclin-dependent kinase inhibitor 2ACDK4 inhibitor p16-INK4alternative reading framecell cycle negative regulator betacyclin-dependent kinase 4 inhibitor Acyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)multiple tumor suppressor 1
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000251076, ENST00000449909, 
ENST00000543779, ENST00000560421, 
Fusion gene scores* DoF score10 X 8 X 6=48013 X 5 X 10=650
# samples 916
** MAII scorelog2(9/480*10)=-2.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/650*10)=-2.02236781302845
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DMXL2 [Title/Abstract] AND CDKN2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDMXL2(51740655)-CDKN2A(21995160), # 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
TgeneCDKN2A

GO:0000082

G1/S transition of mitotic cell cycle

10208428

TgeneCDKN2A

GO:0007050

cell cycle arrest

15149599

TgeneCDKN2A

GO:0008285

negative regulation of cell proliferation

15149599

TgeneCDKN2A

GO:0030308

negative regulation of cell growth

10208428

TgeneCDKN2A

GO:0032088

negative regulation of NF-kappaB transcription factor activity

10353611

TgeneCDKN2A

GO:0042326

negative regulation of phosphorylation

8259215|10208428

TgeneCDKN2A

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

7739547|8259215



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
ChimerDB4GBMTCGA-06-0190-01ADMXL2chr15

51740655

-CDKN2Achr9

21995160

-


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Fusion Gene ORF analysis for DMXL2-CDKN2A

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
intron-5UTRENST00000251076ENST00000494262DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000251076ENST00000498628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000449909ENST00000494262DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000449909ENST00000498628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000543779ENST00000494262DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000543779ENST00000498628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000560421ENST00000494262DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-5UTRENST00000560421ENST00000498628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000304494DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000361570DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000446177DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000470819DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000479692DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000497750DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000498124DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000530628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000578845DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000579122DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000251076ENST00000579755DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000304494DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000361570DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000446177DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000470819DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000479692DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000497750DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000498124DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000530628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000578845DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000579122DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000449909ENST00000579755DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000304494DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000361570DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000446177DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000470819DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000479692DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000497750DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000498124DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000530628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000578845DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000579122DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000543779ENST00000579755DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000304494DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000361570DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000446177DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000470819DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000479692DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000497750DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000498124DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000530628DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000578845DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000579122DMXL2chr15

51740655

-CDKN2Achr9

21995160

-
intron-intronENST00000560421ENST00000579755DMXL2chr15

51740655

-CDKN2Achr9

21995160

-

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 DMXL2-CDKN2A


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 DMXL2-CDKN2A


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/:51740655/:21995160)
- 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


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Fusion Gene Sequence for DMXL2-CDKN2A


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 DMXL2-CDKN2A


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 DMXL2-CDKN2A


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 DMXL2-CDKN2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDMXL2C0018784Sensorineural Hearing Loss (disorder)4GENOMICS_ENGLAND
HgeneDMXL2C4015261POLYENDOCRINE-POLYNEUROPATHY SYNDROME3GENOMICS_ENGLAND;ORPHANET
HgeneDMXL2C1846647DEAFNESS, AUTOSOMAL RECESSIVE (disorder)2CLINGEN
HgeneDMXL2C4539881DEAFNESS, AUTOSOMAL DOMINANT 711UNIPROT
TgeneC1835044MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 213CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1838547MELANOMA-PANCREATIC CANCER SYNDROME10CLINGEN;CTD_human
TgeneC0024121Lung Neoplasms4CTD_human;UNIPROT
TgeneC0242379Malignant neoplasm of lung4CTD_human
TgeneC0011570Mental Depression3PSYGENET
TgeneC0011581Depressive disorder3PSYGENET
TgeneC0023903Liver neoplasms3CTD_human
TgeneC0345904Malignant neoplasm of liver3CTD_human
TgeneC0345967Malignant mesothelioma3CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck3CTD_human
TgeneC0005684Malignant neoplasm of urinary bladder2CTD_human
TgeneC0005695Bladder Neoplasm2CTD_human;UNIPROT
TgeneC0006118Brain Neoplasms2CTD_human
TgeneC0006826Malignant Neoplasms2CGI;CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma2CTD_human;UNIPROT
TgeneC0017638Glioma2CGI;CTD_human
TgeneC0023452Childhood Acute Lymphoblastic Leukemia2CTD_human;GENOMICS_ENGLAND
TgeneC0025202melanoma2CGI;CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0027651Neoplasms2CTD_human
TgeneC0030297Pancreatic Neoplasm2CGI;CTD_human;UNIPROT
TgeneC0040715Chromosomal translocation2CTD_human
TgeneC0041696Unipolar Depression2PSYGENET
TgeneC0085390Li-Fraumeni Syndrome2ORPHANET
TgeneC0086692Benign Neoplasm2CTD_human
TgeneC0153633Malignant neoplasm of brain2CTD_human
TgeneC0259783mixed gliomas2CTD_human
TgeneC0346647Malignant neoplasm of pancreas2CGI;CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified2CTD_human
TgeneC0555198Malignant Glioma2CTD_human
TgeneC0750974Brain Tumor, Primary2CTD_human
TgeneC0750977Recurrent Brain Neoplasm2CTD_human
TgeneC0750979Primary malignant neoplasm of brain2CTD_human
TgeneC1269683Major Depressive Disorder2PSYGENET
TgeneC1527390Neoplasms, Intracranial2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0001624Adrenal Gland Neoplasms1CTD_human
TgeneC0005940Bone Diseases1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006413Burkitt Lymphoma1ORPHANET
TgeneC0007137Squamous cell carcinoma1CTD_human;UNIPROT
TgeneC0008628Chromosome Deletion1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human;UNIPROT
TgeneC0016325Fluoride Poisoning1CTD_human
TgeneC0017601Glaucoma1CTD_human
TgeneC0022783Vulvar Lichen Sclerosus1CTD_human
TgeneC0023449Acute lymphocytic leukemia1GENOMICS_ENGLAND
TgeneC0023453L2 Acute Lymphoblastic Leukemia1CTD_human
TgeneC0024232Lymphatic Metastasis1CTD_human
TgeneC0024299Lymphoma1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0026640Mouth Neoplasms1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0036920Sezary Syndrome1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0040100Thymoma1CTD_human
TgeneC0041107Trisomy1CTD_human
TgeneC0042065Genitourinary Neoplasms1CTD_human
TgeneC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
TgeneC0151779Cutaneous Melanoma1CGI;CTD_human
TgeneC0153381Malignant neoplasm of mouth1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205969Thymic Carcinoma1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0206727Nerve Sheath Tumors1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0376407Granulomatous Slack Skin1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0596263Carcinogenesis1CTD_human
TgeneC0677866Brain Stem Neoplasms1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0750887Adrenal Cancer1CTD_human
TgeneC0751569Genitourinary Cancer1CTD_human
TgeneC0751606Adult Acute Lymphocytic Leukemia1GENOMICS_ENGLAND
TgeneC0751689Peripheral Nerve Sheath Neoplasm1CTD_human
TgeneC0751691Perineurioma1CTD_human
TgeneC0751886Brain Stem Neoplasms, Primary1CTD_human
TgeneC0751887Medullary Neoplasms1CTD_human
TgeneC0751888Mesencephalic Neoplasms1CTD_human
TgeneC0751889Pontine Tumors1CTD_human
TgeneC0887833Carcinoma, Pancreatic Ductal1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1292769Precursor B-cell lymphoblastic leukemia1ORPHANET
TgeneC1297882Partial Trisomy1CTD_human
TgeneC1449861Micronuclei, Chromosome-Defective1CTD_human
TgeneC1449862Micronuclei, Genotoxicant-Induced1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1835042Melanoma astrocytoma syndrome1CTD_human;ORPHANET
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET
TgeneC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneC2930745Partial Monosomy1CTD_human
TgeneC2931038Pancreatic carcinoma, familial1ORPHANET
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC4283859Cutaneous Malignant Melanoma 21GENOMICS_ENGLAND
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721453Peripheral Nervous System Diseases1CTD_human