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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: 6154

FusionGeneSummary for CD2AP_BLOC1S5

check button Fusion gene summary
Fusion gene informationFusion gene name: CD2AP_BLOC1S5
Fusion gene ID: 6154
HgeneTgene
Gene symbol

CD2AP

BLOC1S5

Gene ID

23607

63915

Gene nameCD2 associated proteinbiogenesis of lysosomal organelles complex 1 subunit 5
SynonymsCMSBLOS5|MU|MUTED
Cytomap

6p12.3

6p24.3

Type of geneprotein-codingprotein-coding
DescriptionCD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domainsbiogenesis of lysosome-related organelles complex 1 subunit 5BLOC-1 subunit 5biogenesis of lysosomal organelles complex-1, subunit 5, mutedmuted homologprotein Muted homolog
Modification date2018052220180523
UniProtAcc

Q9Y5K6

Q8TDH9

Ensembl transtripts involved in fusion geneENST00000359314, ENST00000486693, 
ENST00000397457, ENST00000543936, 
ENST00000475998, 
Fusion gene scores* DoF score13 X 6 X 10=7803 X 2 X 3=18
# samples 133
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CD2AP [Title/Abstract] AND BLOC1S5 [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
TgeneBLOC1S5

GO:0032402

melanosome transport

17182842

TgeneBLOC1S5

GO:0035646

endosome to melanosome transport

17182842

TgeneBLOC1S5

GO:0050942

positive regulation of pigment cell differentiation

17182842


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
TCGALDBRCATCGA-OL-A6VO-01ACD2APchr6

47522502

+BLOC1S5chr6

8016061

-
* 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-shitENST00000359314ENST00000397457CD2APchr6

47522502

+BLOC1S5chr6

8016061

-
Frame-shitENST00000359314ENST00000543936CD2APchr6

47522502

+BLOC1S5chr6

8016061

-
5CDS-5UTRENST00000359314ENST00000475998CD2APchr6

47522502

+BLOC1S5chr6

8016061

-
intron-3CDSENST00000486693ENST00000397457CD2APchr6

47522502

+BLOC1S5chr6

8016061

-
intron-3CDSENST00000486693ENST00000543936CD2APchr6

47522502

+BLOC1S5chr6

8016061

-
intron-5UTRENST00000486693ENST00000475998CD2APchr6

47522502

+BLOC1S5chr6

8016061

-

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FusionProtFeatures for CD2AP_BLOC1S5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CD2AP

Q9Y5K6

BLOC1S5

Q8TDH9

Seems to act as an adapter protein between membraneproteins and the actin cytoskeleton (PubMed:10339567). Incollaboration with CBLC, modulates the rate of RET turnover andmay act as regulatory checkpoint that limits the potency of GDNFon neuronal survival. Controls CBLC function, converting it froman inhibitor to a promoter of RET degradation (By similarity). Mayplay a role in receptor clustering and cytoskeletal polarity inthe junction between T-cell and antigen-presenting cell (Bysimilarity). May anchor the podocyte slit diaphragm to the actincytoskeleton in renal glomerolus. Also required for cytokinesis(PubMed:15800069). Plays a role in epithelial cell junctionsformation (PubMed:22891260). {ECO:0000250|UniProtKB:F1LRS8,ECO:0000250|UniProtKB:Q9JLQ0, ECO:0000269|PubMed:10339567,ECO:0000269|PubMed:15800069, ECO:0000269|PubMed:22891260}. Component of the BLOC-1 complex, a complex that isrequired for normal biogenesis of lysosome-related organelles(LRO), such as platelet dense granules and melanosomes. In concertwith the AP-3 complex, the BLOC-1 complex is required to targetmembrane protein cargos into vesicles assembled at cell bodies fordelivery into neurites and nerve terminals. The BLOC-1 complex, inassociation with SNARE proteins, is also proposed to be involvedin neurite extension. Plays a role in intracellular vesicletrafficking. {ECO:0000269|PubMed:17182842}.

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 CD2AP_BLOC1S5


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 CD2AP_BLOC1S5


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
CD2APRAB4A, CBL, CD2, CAPZA1, CD2AP, NPHS2, BCAR1, MVB12A, SH3KBP1, NPHS1, NR4A1, NR2C2, HBP1, HOXC11, KHDRBS1, BLNK, TRA, PDCD6IP, ACTC1, CBLB, CTTN, EGFR, SH3GL2, DNM2, TSG101, INPP5D, CAPZB, CBLC, ARHGAP17, CAPZA2, MORF4L1P2, SH3BP1, GRB2, NRAS, VCAM1, ITGA4, LMNA, PTGES3, UBC, GZMB, LOX, ARHGEF10, BRCC3, CCDC6, ELP2, SPAG9, HNRNPR, HUWE1, MTA2, NR3C1, IKBKAP, KIAA0196, KIAA1033, LARP7, NOLC1, NRBP1, RABEP2, TSC22D1, USP34, WDHD1, FRS3, UBE2I, SLC25A41, STAP1, TAS2R7, ASNS, CSTF2, DPH5, GALE, IMPDH2, MSN, NPLOC4, PFDN2, PPA2, PRDX6, SCPEP1, SEC24C, SEC24D, TTC27, UFD1L, ZYX, NIT1, MED4, RPGRIP1L, KIF23, ATP6AP2, RACGAP1, KIF15, NF2, CDH1, TCP10L, ARHGAP44, MRPL12, DACH2, SETX, UBE2ABLOC1S5BLOC1S6, DTNBP1, BLOC1S2, BLOC1S3, YOD1, SQSTM1, DCUN1D1, APP, HUWE1, TSNAX, TEX35, C17orf59, BCAS4, XPO1, TRIM69


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 CD2AP_BLOC1S5


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 CD2AP_BLOC1S5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD2APC0002395Alzheimer's Disease2CTD_human