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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: 5094

FusionGeneSummary for C7orf73_AP2M1

check button Fusion gene summary
Fusion gene informationFusion gene name: C7orf73_AP2M1
Fusion gene ID: 5094
HgeneTgene
Gene symbol

C7orf73

AP2M1

Gene ID

1173

Gene nameadaptor related protein complex 2 subunit mu 1
SynonymsAP50|CLAPM1|mu2
Cytomap

3q27.1

Type of geneprotein-coding
DescriptionAP-2 complex subunit muAP-2 mu 2 chainHA2 50 kDA subunitadaptin-mu2adaptor protein complex AP-2 subunit muadaptor related protein complex 2 mu 1 subunitadaptor-related protein complex 2 subunit muclathrin adaptor complex AP2, mu subunitclathrin as
Modification date20180522
UniProtAcc

Q96CW1

Ensembl transtripts involved in fusion geneENST00000507606, ENST00000422968, 
ENST00000382456, ENST00000411763, 
ENST00000292807, ENST00000439647, 
ENST00000461733, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 8 X 1=48
# samples 28
** MAII scorelog2(2/4*10)=2.32192809488736log2(8/48*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C7orf73 [Title/Abstract] AND AP2M1 [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

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
ChiTaRS3.1CB529923C7orf73chr7

135347290

-AP2M1chr3

183898013

-
* 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
5UTR-3CDSENST00000507606ENST00000382456C7orf73chr7

135347290

-AP2M1chr3

183898013

-
5UTR-3CDSENST00000507606ENST00000411763C7orf73chr7

135347290

-AP2M1chr3

183898013

-
5UTR-3CDSENST00000507606ENST00000292807C7orf73chr7

135347290

-AP2M1chr3

183898013

-
5UTR-3CDSENST00000507606ENST00000439647C7orf73chr7

135347290

-AP2M1chr3

183898013

-
5UTR-intronENST00000507606ENST00000461733C7orf73chr7

135347290

-AP2M1chr3

183898013

-
intron-3CDSENST00000422968ENST00000382456C7orf73chr7

135347290

-AP2M1chr3

183898013

-
intron-3CDSENST00000422968ENST00000411763C7orf73chr7

135347290

-AP2M1chr3

183898013

-
intron-3CDSENST00000422968ENST00000292807C7orf73chr7

135347290

-AP2M1chr3

183898013

-
intron-3CDSENST00000422968ENST00000439647C7orf73chr7

135347290

-AP2M1chr3

183898013

-
intron-intronENST00000422968ENST00000461733C7orf73chr7

135347290

-AP2M1chr3

183898013

-

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FusionProtFeatures for C7orf73_AP2M1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C7orf73

AP2M1

Q96CW1

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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 musubunit binds to transmembrane cargo proteins; it recognizes theY-X-X-Phi motifs. The surface region interacting with to the Y-X-X-Phi motif is inaccessible in cytosolic AP-2, but becomesaccessible through a conformational change followingphosphorylation of AP-2 mu subunit at 'Tyr-156' in membrane-associated AP-2. The membrane-specific phosphorylation eventappears to involve assembled clathrin which activates the AP-2 mukinase AAK1 (By similarity). Plays a role in endocytosis offrizzled family members upon Wnt signaling (By similarity).{ECO:0000250, ECO:0000269|PubMed:12694563,ECO:0000269|PubMed:12952941, ECO:0000269|PubMed:14745134,ECO:0000269|PubMed:14985334, ECO:0000269|PubMed:15473838,ECO:0000269|PubMed:16581796, 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 C7orf73_AP2M1


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 C7orf73_AP2M1


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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RelatedDrugs for C7orf73_AP2M1


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 C7orf73_AP2M1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource