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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: 6164

FusionGeneSummary for CD2AP_TRERF1

check button Fusion gene summary
Fusion gene informationFusion gene name: CD2AP_TRERF1
Fusion gene ID: 6164
HgeneTgene
Gene symbol

CD2AP

TRERF1

Gene ID

23607

55809

Gene nameCD2 associated proteintranscriptional regulating factor 1
SynonymsCMSBCAR2|HSA277276|RAPA|TREP132|TReP-132|dJ139D8.5
Cytomap

6p12.3

6p21.1

Type of geneprotein-codingprotein-coding
DescriptionCD2-associated proteinCas ligand with multiple Src homology 3 (SH3) domainsadapter protein CMScas ligand with multiple SH3 domainstranscriptional-regulating factor 1breast cancer anti-estrogen resistance 2rapa-1rapa-2transcriptional regulating protein 132zinc finger protein rapazinc finger transcription factor TReP-132
Modification date2018052220180523
UniProtAcc

Q9Y5K6

Q96PN7

Ensembl transtripts involved in fusion geneENST00000359314, ENST00000486693, 
ENST00000541110, ENST00000372917, 
ENST00000372922, ENST00000340840, 
ENST00000354325, 
Fusion gene scores* DoF score13 X 6 X 10=7806 X 6 X 8=288
# samples 138
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/288*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CD2AP [Title/Abstract] AND TRERF1 [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
TgeneTRERF1

GO:0045893

positive regulation of transcription, DNA-templated

11349124


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
TCGALDKIRPTCGA-UZ-A9PQ-01ACD2APchr6

47522502

+TRERF1chr6

42268487

-
* 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
5CDS-5UTRENST00000359314ENST00000541110CD2APchr6

47522502

+TRERF1chr6

42268487

-
5CDS-5UTRENST00000359314ENST00000372917CD2APchr6

47522502

+TRERF1chr6

42268487

-
5CDS-5UTRENST00000359314ENST00000372922CD2APchr6

47522502

+TRERF1chr6

42268487

-
5CDS-5UTRENST00000359314ENST00000340840CD2APchr6

47522502

+TRERF1chr6

42268487

-
5CDS-5UTRENST00000359314ENST00000354325CD2APchr6

47522502

+TRERF1chr6

42268487

-
intron-5UTRENST00000486693ENST00000541110CD2APchr6

47522502

+TRERF1chr6

42268487

-
intron-5UTRENST00000486693ENST00000372917CD2APchr6

47522502

+TRERF1chr6

42268487

-
intron-5UTRENST00000486693ENST00000372922CD2APchr6

47522502

+TRERF1chr6

42268487

-
intron-5UTRENST00000486693ENST00000340840CD2APchr6

47522502

+TRERF1chr6

42268487

-
intron-5UTRENST00000486693ENST00000354325CD2APchr6

47522502

+TRERF1chr6

42268487

-

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FusionProtFeatures for CD2AP_TRERF1


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

Q9Y5K6

TRERF1

Q96PN7

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}. Binds DNA and activates transcription of CYP11A1.Interaction with CREBBP and EP300 results in a synergistictranscriptional activation of CYP11A1.{ECO:0000269|PubMed:11349124, ECO:0000269|PubMed:16371131}.

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_TRERF1


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_TRERF1


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, UBE2ATRERF1EP300, CREBBP, NR5A1, ELAVL1, DNTTIP1, HDAC1, SOX2, SHMT2, NXF1, ELMSAN1, NANOG


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_TRERF1


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_TRERF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD2APC0002395Alzheimer's Disease2CTD_human
TgeneTRERF1C1458155Mammary Neoplasms1CTD_human