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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: 6636

FusionGeneSummary for CDKN2A_FAM124A

check button Fusion gene summary
Fusion gene informationFusion gene name: CDKN2A_FAM124A
Fusion gene ID: 6636
HgeneTgene
Gene symbol

CDKN2A

FAM124A

Gene ID

1029

220108

Gene namecyclin dependent kinase inhibitor 2Afamily with sequence similarity 124 member A
SynonymsARF|CDK4I|CDKN2|CMM2|INK4|INK4A|MLM|MTS-1|MTS1|P14|P14ARF|P16|P16-INK4A|P16INK4|P16INK4A|P19|P19ARF|TP16-
Cytomap

9p21.3

13q14.3

Type of geneprotein-codingprotein-coding
Descriptioncyclin-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 1protein FAM124Afamily with sequence similarity 124A
Modification date2018052720180519
UniProtAcc

Q8N726

Q86V42

Ensembl transtripts involved in fusion geneENST00000361570, ENST00000304494, 
ENST00000579755, ENST00000579122, 
ENST00000578845, ENST00000530628, 
ENST00000498124, ENST00000498628, 
ENST00000494262, ENST00000446177, 
ENST00000479692, ENST00000497750, 
ENST00000470819, 
ENST00000322475, 
ENST00000280057, ENST00000497449, 
Fusion gene scores* DoF score11 X 4 X 9=3962 X 1 X 2=4
# samples 112
** MAII scorelog2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: CDKN2A [Title/Abstract] AND FAM124A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not 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
HgeneCDKN2A

GO:0000082

G1/S transition of mitotic cell cycle

10208428

HgeneCDKN2A

GO:0007050

cell cycle arrest

15149599

HgeneCDKN2A

GO:0008285

negative regulation of cell proliferation

15149599

HgeneCDKN2A

GO:0030308

negative regulation of cell growth

10208428

HgeneCDKN2A

GO:0032088

negative regulation of NF-kappaB transcription factor activity

10353611

HgeneCDKN2A

GO:0042326

negative regulation of phosphorylation

8259215|10208428

HgeneCDKN2A

GO:0045736

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

7739547|8259215


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
TCGALDGBMTCGA-06-A6S1-01ACDKN2Achr9

21994138

-FAM124Achr13

51825604

+
* 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
Frame-shitENST00000361570ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
Frame-shitENST00000361570ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
5CDS-intronENST00000361570ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000304494ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000304494ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000304494ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
Frame-shitENST00000579755ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
Frame-shitENST00000579755ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
5CDS-intronENST00000579755ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000579122ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000579122ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000579122ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000578845ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000578845ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000578845ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
Frame-shitENST00000530628ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
Frame-shitENST00000530628ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
5CDS-intronENST00000530628ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000498124ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000498124ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000498124ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000498628ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000498628ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000498628ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000494262ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000494262ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000494262ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000446177ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000446177ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000446177ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000479692ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000479692ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000479692ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000497750ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000497750ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000497750ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000470819ENST00000322475CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-3CDSENST00000470819ENST00000280057CDKN2Achr9

21994138

-FAM124Achr13

51825604

+
intron-intronENST00000470819ENST00000497449CDKN2Achr9

21994138

-FAM124Achr13

51825604

+

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FusionProtFeatures for CDKN2A_FAM124A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDKN2A

Q8N726

FAM124A

Q86V42

Capable of inducing cell cycle arrest in G1 and G2phases. Acts as a tumor suppressor. Binds to MDM2 and blocks itsnucleocytoplasmic shuttling by sequestering it in the nucleolus.This inhibits the oncogenic action of MDM2 by blocking MDM2-induced degradation of p53 and enhancing p53-dependenttransactivation and apoptosis. Also induces G2 arrest andapoptosis in a p53-independent manner by preventing the activationof cyclin B1/CDC2 complexes. Binds to BCL6 and down-regulatesBCL6-induced transcriptional repression. Binds to E2F1 and MYC andblocks their transcriptional activator activity but has no effecton MYC transcriptional repression. Binds to TOP1/TOPOI andstimulates its activity. This complex binds to rRNA gene promotersand may play a role in rRNA transcription and/or maturation.Interacts with NPM1/B23 and promotes its polyubiquitination anddegradation, thus inhibiting rRNA processing. Interacts withCOMMD1 and promotes its 'Lys63'-linked polyubiquitination.Interacts with UBE2I/UBC9 and enhances sumoylation of a number ofits binding partners including MDM2 and E2F1. Binds to HUWE1 andrepresses its ubiquitin ligase activity. May play a role incontrolling cell proliferation and apoptosis during mammary glanddevelopment. Isoform smARF may be involved in regulation ofautophagy and caspase-independent cell death; the short-livedmitochondrial isoform is stabilized by C1QBP.{ECO:0000269|PubMed:11314011, ECO:0000269|PubMed:11314038,ECO:0000269|PubMed:12660818, ECO:0000269|PubMed:14636574,ECO:0000269|PubMed:15361825, ECO:0000269|PubMed:15567177,ECO:0000269|PubMed:15876874, ECO:0000269|PubMed:15989956,ECO:0000269|PubMed:16713577, ECO:0000269|PubMed:18305112,ECO:0000269|PubMed:22094112, ECO:0000269|PubMed:9724636}.

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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FusionGeneSequence for CDKN2A_FAM124A


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 CDKN2A_FAM124A


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
CDKN2APPP1R9B, CDK4, AURKA, CDK6, CCND2, SERTAD1, MDM2, RPL11, TP53, UBE2A, FKBP2, CCND1, E4F1, CCNG1, MDM4, ING4, DAXX, TOP1, PSME3, PSMC3, LAMTOR3, SMARCA4, ING1, KAT5, YY1, NPM1, SAP25, TRIP12, HUWE1, PCNA, MCM6, UCHL1, VHL, SP1, TTF1, HIST3H2BB, HDAC1, ARFIP2, GGA1, WRN, TP63, NCL, PPP1CB, PPP1CC, COMMD1, TRADD, UBE2I, CUL2, COPS5, SENP3, CDK5RAP3, CTBP2, RNF2, PIAS2, MYC, BRCA1, IKBKB, GGA3, CDKN2AIP, NMI, ATR, MYCN, HIF1A, E2F1, EGR1, SLC4A1, ZNF420, SIVA1, GMNN, ORC4, CDC6, CDC5L, CDC45, CDC7, MCM2, MCM10, MCM5, MAPK8, MAPK10, DEAF1, TDRD7, CRELD2, HNRNPU, FN1, PRKCA, DYRK1B, HIPK4, CDK11A, CLK2, UBE4B, USP26, SNRPA, TUBA1C, TUBB4B, TUBA1A, TUBB, HSPA9, SNRPB, RUVBL2, RIN2, PDCD6, MMRN1, MYL12A, MTR, HNRNPC, HSPA4, HSPA8, HSP90AB1, HSP90AA1, GAPDH, EPHA3, EEF2, ACLY, ACTN4, ACTG1, ACTB, HNRNPA2B1, BRK1, ACTA1, ACTBL2, CSTF2, LSM8, NCKAP1, RPP38, GNL3, DGCR8, BCL2L1, C1QBP, BECN1, RELA, MOV10, NXF1, PA2G4, ZBTB17, ANGPTL4, CASC3, NAT2, WHSC1L1, MYO1C, IQGAP1, MIS12, BAG6, CFAP97, TRIM28, PML, KAT2B, GLTSCR2, RRM2, IGF1R, PTEN, UBC, ANKRA2, ASPRV1, AZIN1, ANAPC15, ZGRF1, CCNDBP1, CENPA, EFHC2, EXOC2, HLA-DOB, MAF1, MGC34796, PTP4A3, RBM26, SIX2, UBL7, VAMP1, ZNF687, ZUFSPFAM124ARBM10, NKAP, ZNF165, SRPK1, AES, PHC2, KIFC3, PRKG1, ROCK1, CGGBP1, ZZZ3, ZBTB44, THAP1, ZFP64, TRIM54, ZNF250, CCDC33, CEP70, DOCK8, LNX1, TRIM41, FOXP2, RAB3IP, FAM154A, STAC3, INO80E, CCDC36, BEND7


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 CDKN2A_FAM124A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for CDKN2A_FAM124A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDKN2AC1835044MELANOMA, CUTANEOUS MALIGNANT, 211CTD_human;UNIPROT
HgeneCDKN2AC0024121Lung Neoplasms4CTD_human
HgeneCDKN2AC0011570Mental Depression3PSYGENET
HgeneCDKN2AC0011581Depressive disorder3PSYGENET
HgeneCDKN2AC0023903Liver neoplasms3CTD_human
HgeneCDKN2AC0005695Bladder Neoplasm2CTD_human
HgeneCDKN2AC0006118Brain Neoplasms2CTD_human
HgeneCDKN2AC0007131Non-Small Cell Lung Carcinoma2CTD_human
HgeneCDKN2AC0017638Glioma2CTD_human
HgeneCDKN2AC0030297Pancreatic Neoplasm2CTD_human
HgeneCDKN2AC0040715Chromosomal translocation2CTD_human
HgeneCDKN2AC0041696Unipolar Depression2PSYGENET
HgeneCDKN2AC0345967Malignant mesothelioma2CTD_human
HgeneCDKN2AC1168401Squamous cell carcinoma of the head and neck2CTD_human
HgeneCDKN2AC1269683Major Depressive Disorder2PSYGENET
HgeneCDKN2AC0001418Adenocarcinoma1CTD_human
HgeneCDKN2AC0001624Adrenal Gland Neoplasms1CTD_human
HgeneCDKN2AC0007137Squamous cell carcinoma1CTD_human;HPO
HgeneCDKN2AC0008628Chromosome Deletion1CTD_human
HgeneCDKN2AC0014859Esophageal Neoplasms1CTD_human
HgeneCDKN2AC0017601Glaucoma1CTD_human
HgeneCDKN2AC0022783Vulvar Lichen Sclerosus1CTD_human
HgeneCDKN2AC0024299Lymphoma1CTD_human
HgeneCDKN2AC0025202melanoma1CTD_human;HPO
HgeneCDKN2AC0025500Mesothelioma1CTD_human
HgeneCDKN2AC0026640Mouth Neoplasms1CTD_human
HgeneCDKN2AC0026764Multiple Myeloma1CTD_human
HgeneCDKN2AC0027626Neoplasm Invasiveness1CTD_human
HgeneCDKN2AC0027819Neuroblastoma1CTD_human
HgeneCDKN2AC0031117Peripheral Neuropathy1CTD_human
HgeneCDKN2AC0032927Precancerous Conditions1CTD_human
HgeneCDKN2AC0036920Sezary Syndrome1CTD_human
HgeneCDKN2AC0038356Stomach Neoplasms1CTD_human
HgeneCDKN2AC0040100Thymoma1CTD_human
HgeneCDKN2AC0041107Trisomy1CTD_human
HgeneCDKN2AC0042065Genitourinary Neoplasms1CTD_human
HgeneCDKN2AC0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneCDKN2AC0079773Lymphoma, T-Cell, Cutaneous1CTD_human
HgeneCDKN2AC0151779Cutaneous Melanoma1CTD_human
HgeneCDKN2AC0206686Adrenocortical carcinoma1CTD_human
HgeneCDKN2AC0206727Nerve Sheath Tumors1CTD_human
HgeneCDKN2AC0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCDKN2AC0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneCDKN2AC0596263Carcinogenesis1CTD_human
HgeneCDKN2AC0677866Brain Stem Neoplasms1CTD_human
HgeneCDKN2AC0887833Carcinoma, Pancreatic Ductal1CTD_human
HgeneCDKN2AC1449861Micronuclei, Chromosome-Defective1CTD_human
HgeneCDKN2AC1458155Mammary Neoplasms1CTD_human
HgeneCDKN2AC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
HgeneCDKN2AC2239176Liver carcinoma1CTD_human
HgeneCDKN2AC2931822Nasopharyngeal carcinoma1CTD_human