FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 2892

FusionGeneSummary for ASAP1_CDKN2B

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAP1_CDKN2B
Fusion gene ID: 2892
HgeneTgene
Gene symbol

ASAP1

CDKN2B

Gene ID

50807

1030

Gene nameArfGAP with SH3 domain, ankyrin repeat and PH domain 1cyclin dependent kinase inhibitor 2B
SynonymsAMAP1|CENTB4|DDEF1|PAG2|PAP|ZG14PCDK4I|INK4B|MTS2|P15|TP15|p15INK4b
Cytomap

8q24.21-q24.22

9p21.3

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with SH3 domain, ANK repeat and PH domain-containing protein 1130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase-activating protein130 kDa phosphatidylinositol 4,5-bisphosphate-dependent ARF1 GTPase-activating proteinADP-ribosylcyclin-dependent kinase 4 inhibitor BCDK inhibitory proteinCDK4B inhibitorMTS-2cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)cyclin-dependent kinases 4 and 6 binding proteinmultiple tumor suppressor 2p14-INK4bp14_CDK inhibitorp14_INK4B
Modification date2018052320180527
UniProtAcc

Q9ULH1

P42772

Ensembl transtripts involved in fusion geneENST00000357668, ENST00000518721, 
ENST00000520625, 
ENST00000276925, 
ENST00000380142, ENST00000539462, 
Fusion gene scores* DoF score20 X 11 X 10=22001 X 1 X 1=1
# samples 221
** MAII scorelog2(22/2200*10)=-3.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ASAP1 [Title/Abstract] AND CDKN2B [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneCDKN2B

GO:0000079

regulation of cyclin-dependent protein serine/threonine kinase activity

8078588

TgeneCDKN2B

GO:0042326

negative regulation of phosphorylation

8078588


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
TCGARVSKCMTCGA-FS-A1ZE-06AASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
* 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-shitENST00000357668ENST00000276925ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
5CDS-3UTRENST00000357668ENST00000380142ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
5CDS-intronENST00000357668ENST00000539462ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
In-frameENST00000518721ENST00000276925ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
5CDS-3UTRENST00000518721ENST00000380142ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
5CDS-intronENST00000518721ENST00000539462ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
intron-3CDSENST00000520625ENST00000276925ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
intron-3UTRENST00000520625ENST00000380142ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-
intron-intronENST00000520625ENST00000539462ASAP1chr8

131370263

-CDKN2Bchr9

22006246

-

Top

FusionProtFeatures for ASAP1_CDKN2B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASAP1

Q9ULH1

CDKN2B

P42772

Possesses phosphatidylinositol 4,5-bisphosphate-dependent GTPase-activating protein activity for ARF1 (ADPribosylation factor 1) and ARF5 and a lesser activity towardsARF6. May coordinate membrane trafficking with cell growth oractin cytoskeleton remodeling by binding to both SRC and PIP2. Mayfunction as a signal transduction protein involved in thedifferentiation of fibroblasts into adipocytes and possibly othercell types (By similarity). Plays a role in ciliogenesis.{ECO:0000250, ECO:0000269|PubMed:20393563}. Interacts strongly with CDK4 and CDK6. Potent inhibitor.Potential effector of TGF-beta induced cell cycle arrest.

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


Top

FusionGeneSequence for ASAP1_CDKN2B


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.
>In-frame_ASAP1_ENST00000518721_chr8_131370263_-_CDKN2B_ENST00000276925_chr9_22006246_-_149aa
MRSSASRLSSFSSRDSLWNRMPDQISVSEFIAETTEDYNSPTTSSFTTRLHNCRNTVTLLEEVMMMGSARVAELLLLHGAEPNCADPATL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ASAP1_ENST00000518721_chr8_131370263_-_CDKN2B_ENST00000276925_chr9_22006246_-_447nt
ATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGAGATTCACTATGGAATCGGATGCCGGACCAGATCTCTGTCTCGGAGTTC
ATCGCCGAGACCACCGAGGACTACAACTCGCCCACCACGTCCAGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTG
GAGGAGGTCATGATGATGGGCAGCGCCCGCGTGGCGGAGCTGCTGCTGCTCCACGGCGCGGAGCCCAACTGCGCAGACCCTGCCACTCTC
ACCCGACCGGTGCATGATGCTGCCCGGGAGGGCTTCCTGGACACGCTGGTGGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_ASAP1_ENST00000518721_chr8_131370263_-_CDKN2B_ENST00000276925_chr9_22006246_-_3759nt
CCCTTCCTGCGCCGCGCTCGGCTCCCGCGCCTCGCCTGGCCTGGCCGCTGCCGCGGGCGAGCACTGTGCGCTGGGCAGCCCCGGGCCCGC
GCCTCCCGCCCAGCCGGCGCTTCCCGGTCGCAGTTCGCTTTCCCACCCGAGAGCCGCGAGCGCCCGGCCGAACCCGCGATGGAATAATGC
CCAGCGGCCCGCCAGGTCCCGGTCGTTTTCTGATGTGACGGCTGAGACATGAGATCTTCAGCCTCCAGGCTCTCCAGTTTTTCGTCGAGA
GATTCACTATGGAATCGGATGCCGGACCAGATCTCTGTCTCGGAGTTCATCGCCGAGACCACCGAGGACTACAACTCGCCCACCACGTCC
AGCTTCACCACGCGGCTGCACAACTGCAGGAACACCGTCACGCTGCTGGAGGAGGTCATGATGATGGGCAGCGCCCGCGTGGCGGAGCTG
CTGCTGCTCCACGGCGCGGAGCCCAACTGCGCAGACCCTGCCACTCTCACCCGACCGGTGCATGATGCTGCCCGGGAGGGCTTCCTGGAC
ACGCTGGTGGTGCTGCACCGGGCCGGGGCGCGGCTGGACGTGCGCGATGCCTGGGGTCGTCTGCCCGTGGACTTGGCCGAGGAGCGGGGC
CACCGCGACGTTGCAGGGTACCTGCGCACAGCCACGGGGGACTGACGCCAGGTTCCCCAGCCGCCCACAACGACTTTATTTTCTTACCCA
ATTTCCCACCCCCACCCACCTAATTCGATGAAGGCTGCCAACGGGGAGCGGCGGAAAGCCTGTAAGCCTGCAAGCCTGTCTGAGACTCAC
AGGAAGGAGGAGCCGACCGGGAATAACCTTCCATACATTTTTTTCTTTGTCTTATCTGGCCCTCGACACTCACCATGAAGCGAAACACAG
AGAAGCGGATTTCCAGGGATATTTAGGAGTGTGTGACATTCCAGGGGTCGTTTGCTTTTCAGGGTTTTCTGAGGGAAAGTGCATATGAAA
TCCTTGACTGGACCTGGTGGCTACGAATCTTCCGATGGATGAATCTCCCACTCCAGCGCTGAGTGGGAGAAGGCAGTGATTAGCACTTGG
GTGACGGCAGTCGATGCGTTCACTCCAATGTCTGCTGAGGAGTTATGGTGAACCCACAACTTAGGCCCTAGCGGCAGAAAGGAAAACCTG
AAGACTGAGGACAAAGTGGAGGAGGGCCGAGGTGGGCTTCAGTAAGTCCCCGGCGGCGCTTTAGTTTGAGCGCATGGCAAGTCACATGCG
TAAACGACACTCTCTGGAAGCCCTGGAGACCCTCGCCCAACTCCACCAGATAGCAGAGGGGTAAGAGAGGATGTGCAAGCGACGACAGAT
GCTAAAATCCCTGGATCACGACGCTGCAGAGCACCTTTGCACAGGATGCTGGCCTTTGCTCTTACTACACTGAGGAGAGATTCCCGCGGG
TTCCGCAGGCAGACTACACAGGATGAGGTGGTGGAGTGGAGTGAGAGCAATTGTAACGGTTAACTGTAACGTTTTCTTTCACACACACAC
ACACACACACACACACACATGCTAGGATGCGGAAATCCCCTTATGACTTGCTACTTTTTGATTTTGTGATATTTTGTACTTTTTAGTTGT
TCAGCAACTGTCTTATTTAATGGGGAGATTTTAAGTAACATAACTAGTGGCTCTCAGTTAAAATGTGAGGAAGAACTACAGCTCTTAAAT
GTAGCAATGGCACTGTTGCAAACTCAGTGCAAACGCCTAGATTGCTTTCTTCTTAACCTATTTATTTCTTTGTTAAATTTTTCTGATTGT
TTCCTTTATAGAGTGTCTCAGGGTGCAGAGGTCAGACTAAGAAATATTCCAAATGTCTTTTAGAAGATAGATGCACTTATGCAGTAAATT
ATCTTGGGATAGTTCCCAAAAGATTGCTGAAAAAGTAGATTGAGTATAAAAACTTGAAAATATATGATGGCTCGTGGGATGTCCTACTAT
CACTGAACAAACTAAAGGTGCACTGCTTTGGGATTTAATTTCCAGGGTTGCTTGATCATTATATCATTGGAACAACTGATACTTCACTAC
TTTAATAAAGAATTAACAGAGATTGAACTCCAAGAGGTGGGTAATTTGGTTTAAAAATACATGTTCATGGGTTTACCACTAACTCCTGAG
AAATGTTAAAGGTTCACAGGGGTTCCCTTCTCTCAATGTTTGTAATAATTGCTCATAAGCAATACCAGCAATTCATAAAAACTGCTTACT
TATGCCATAGAAAATTAAACACAAAGTGTATACATGTATTATGCTTCTAAATGCTCATTCTACCAGATACACATTTAAAAGAGAAAAAAG
GAACAGAAACAAGTCATTTGAGAGTGGAGACTTATAAGAAGGAGTACATTTGAGTTGAATACACAAATCTTTACTTCTCTACCAATTCCT
ATTCCCAAAATGAACATATTACTGGGGAAAGTTAGTTGAGAATCAGAGCATATGTTATTGGGGAAAGGATATGTTTATTGACACATAATC
TGTACCAGGTATGCATTAAAATATATTTGTTAATTTAATATTTAAACCTGAGAGATAGGTATTGTTTCCCAGATGAGGACAATGAGGCAA
AGAAATATCAAGTAACTTGCCAAAGGTTACAAGATATTCATTCCATGGATGCACAAAGAAGTGCATCTAGTTCCACAGCTGATTATGGTT
GTCTTGCTTTTCTTCCCATTGCACCAGCTTGTCCTCCAAAATCATGAATGATACACATGAAGATAACTTTTTTTAAAAAAAAGCAGAAAT
ACACAATGATCTCCCTTGTAAGCTCCTAAGGTGGCTTTTCTTTCTCTAACTTCTAGTAAATATAAACGGTTTGTTTGAAAACTATTTTAA
AATGTCAACAATATGGAGAATAACCCCCCCCAACACACCTATAAAAACCCAAATTTTTGGAACAAAGATAATGGAACCTCCATTTTCAAA
CTGAAGCACAGGGACAGAAAATATATTTCTAGTTATCACTTAAGCACTCAATCATTAGAGGCTACAAGAATAATATTTTTAAAGTTACAG
TATTTTACAATTATTAGAAAACATTCTATATAAAAGAAGTCAGTTGATACTTTAAAATCTCCCATTTGGTTTATAAAATCCCTTAATTTG
ACCTCTATATCTTAAATTCCAAGATGTTTAAATTTGCTAGTTGCATTATACTGGGTCATGAAAAATTATCCCTTGAAATAGATATGAAAC
ATGTTACTTCATTTCTGGTTTAAATAACTTGTGGAATCTTTCCTAATGACAACCTGATATTAAGGGAAACTAAAGAAAATGTTATTGTGG
ATCCCACAGTACTATATTACACTGTTTTTTTTGTTTGTTTTGTTAGTTTTTTTTATTTAAAGCAAACCTCAAACATTATTGGGTATCAAT
TACCACCTGGTTGTATTGAAATAGTAACTTATCAATGCCATGTAAAAATTAATTCCATTTTCGAAGCCACCTGGCAGACAGGTTTAGCTG
TTTCATCAGCAGCCTAATATATACTGTTAAATTTGTTAAGGATTTCACTTTGAAGGATACATGCAAAACATATAGTTACTATTTTCATGA
GTCCTGCTTCTAGCTCCATTGTGGAATACAGAAAATTAAATATACCTGTTAAGTTCGTATCTAAACCTAAGACATTACCAAGGTTTGTAC


Top

FusionGenePPI for ASAP1_CDKN2B


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
ASAP1SRC, CRK, PXN, PACSIN1, PACSIN2, PACSIN3, TRIP10, FCHSD1, GRB2, ARF6, ELAVL1, SH3KBP1, CBL, CBLB, ARAP3, CTTN, PTK2, LRRK1, NCK2, NTRK1, RAB11FIP3, RAB11FIP1, RAB11FIP2, CDH1, PTPN12, ASAP3, TRIM25, ARF1CDKN2BMAGEA11, CDK4, ARPC3, IKBKAP, CCDC90B, KIAA1377, APP, PYCRL, RNF20, ISL1, TGFB1I1, CDK6, TRAF1, NIF3L1, CCDC33, PIAS2


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


Top

RelatedDrugs for ASAP1_CDKN2B


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

Top

RelatedDiseases for ASAP1_CDKN2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASAP1C0005695Bladder Neoplasm1CTD_human
HgeneASAP1C0041327Tuberculosis, Pulmonary1CTD_human
TgeneCDKN2BC0017638Glioma2CTD_human
TgeneCDKN2BC0017601Glaucoma1CTD_human
TgeneCDKN2BC0024299Lymphoma1CTD_human
TgeneCDKN2BC1956346Coronary Artery Disease1CTD_human
TgeneCDKN2BC3463824MYELODYSPLASTIC SYNDROME1CTD_human