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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: 21551

FusionGeneSummary for MED25_AP2A1

check button Fusion gene summary
Fusion gene informationFusion gene name: MED25_AP2A1
Fusion gene ID: 21551
HgeneTgene
Gene symbol

MED25

AP2A1

Gene ID

81857

160

Gene namemediator complex subunit 25adaptor related protein complex 2 subunit alpha 1
SynonymsACID1|ARC92|BVSYS|CMT2B2|P78|PTOV2|TCBAP0758ADTAA|AP2-ALPHA|CLAPA1
Cytomap

19q13.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptionmediator of RNA polymerase II transcription subunit 25ARC/mediator transcriptional coactivator subunitactivator interaction domain-containing protein 1activator-recruited cofactor 92 kDa componentmediator of RNA polymerase II transcription, subunit 25AP-2 complex subunit alpha-1100 kDa coated vesicle protein Aadapter-related protein complex 2 alpha-1 subunitadapter-related protein complex 2 subunit alpha-1adaptin, alpha Aadaptor protein complex AP-2 subunit alpha-1adaptor related protein complex
Modification date2018051920180522
UniProtAcc

Q71SY5

O95782

Ensembl transtripts involved in fusion geneENST00000312865, ENST00000538643, 
ENST00000354293, ENST00000600199, 
ENST00000359032, 
Fusion gene scores* DoF score6 X 3 X 4=7210 X 7 X 6=420
# samples 610
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/420*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MED25 [Title/Abstract] AND AP2A1 [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
HgeneMED25

GO:0045944

positive regulation of transcription by RNA polymerase II

17641689

TgeneAP2A1

GO:1900126

negative regulation of hyaluronan biosynthetic process

24251095


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
TCGARVBRCATCGA-EW-A3U0-01AMED25chr19

50322553

+AP2A1chr19

50285014

+
* 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-shiftENST00000312865ENST00000354293MED25chr19

50322553

+AP2A1chr19

50285014

+
5CDS-3UTRENST00000312865ENST00000600199MED25chr19

50322553

+AP2A1chr19

50285014

+
5CDS-3UTRENST00000312865ENST00000359032MED25chr19

50322553

+AP2A1chr19

50285014

+
intron-3CDSENST00000538643ENST00000354293MED25chr19

50322553

+AP2A1chr19

50285014

+
intron-3UTRENST00000538643ENST00000600199MED25chr19

50322553

+AP2A1chr19

50285014

+
intron-3UTRENST00000538643ENST00000359032MED25chr19

50322553

+AP2A1chr19

50285014

+

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FusionProtFeatures for MED25_AP2A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MED25

Q71SY5

AP2A1

O95782

Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 alphasubunit binds polyphosphoinositide-containing lipids, positioningAP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocyticaccessory proteins. The AP-2 alpha and AP-2 sigma subunits arethought to contribute to the recognition of the [ED]-X-X-X-L-[LI]motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:14745134,ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387}.

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 MED25_AP2A1


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 MED25_AP2A1


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
MED25MED10, MED9, MED29, MED19, MED28, MED26, MED15, CDK8, MED6, MED1, TRRAP, MED12, ZC3H13, TRIP4, OBFC1, QKI, TADA2A, SREBF1, MED13, MED14, MED23, MED25, MED16, MED17, MED7, RARA, RXRA, THRA, ESR1, NR3C1, CREBBP, CTDP1, NOTCH1, EPAS1, MED24, MED4, POLR2F, MED18, MED21, CCNC, FEZ1AP2A1DPYSL2, NUMB, L1CAM, CD22, EHD1, NAGPA, EPS15, CLINT1, RAB11FIP2, ARRB2, BRCA1, SHBG, RALBP1, REPS2, EPN1, AMPH, SYNJ1, GRK5, ABL1, SHC1, CRK, AP2M1, MYO6, AP2A2, PICALM, FN1, VCAM1, DAB2, SMAD9, ITGA4, MMS19, ARRB1, RNF11, EGFR, GRB2, PPP6R3, PIN1, BIN1, RPA3, RPA2, RPA1, ABCB11, EPHA2, OBSL1, AAK1, SLC25A41, NECAP2, LRFN4, AAGAB, ZBTB46, SPC25, NTRK1, AP1B1, AP2S1, NUTF2, AP2B1, EIF2B1, MED4, MED23, CEP128, XPO1, CAPZA2, CLTB, CLTC, DBN1, FLNA, GAK, MYH9, PPP1CB, PPP1CC, IQGAP1, PDLIM7, SEC16A, SYNPO, LIMA1, GTSE1, ANLN, MYO5C, MYO19, ARX, MYO18A, CFAP97, MCM2, MEX3C, FBXW7, DIEXF, ZNF746, ARFGAP1, SNX9, RUNDC3A, GPR156, GPBP1L1, FCHO1, INTS4, OCRL, SOST, STAMBP, REPS1, PPP6R2, LSR, C11orf57, GJB7, UBC, ARF6, TRIM25


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 MED25_AP2A1


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 MED25_AP2A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMED25C1854150Charcot-Marie-Tooth disease, Type 2B21CTD_human;ORPHANET;UNIPROT
HgeneMED25C4225323BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME1ORPHANET;UNIPROT