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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: 6160

FusionGeneSummary for CD2AP_NFKBIE

check button Fusion gene summary
Fusion gene informationFusion gene name: CD2AP_NFKBIE
Fusion gene ID: 6160
HgeneTgene
Gene symbol

CD2AP

NFKBIE

Gene ID

23607

4794

Gene nameCD2 associated proteinNFKB inhibitor epsilon
SynonymsCMSIKBE
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 domainsNF-kappa-B inhibitor epsilonI-kappa-B-epsilonNF-kappa-BIEikB-EikB-epsilonikappaBepsilonnuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon
Modification date2018052220180519
UniProtAcc

Q9Y5K6

O00221

Ensembl transtripts involved in fusion geneENST00000359314, ENST00000486693, 
ENST00000275015, 
Fusion gene scores* DoF score13 X 6 X 10=7801 X 1 X 1=1
# samples 131
** MAII scorelog2(13/780*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: CD2AP [Title/Abstract] AND NFKBIE [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
TCGARVLUADTCGA-05-4402-01ACD2APchr6

47445984

+NFKBIEchr6

44228276

-
* 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
In-frameENST00000359314ENST00000275015CD2APchr6

47445984

+NFKBIEchr6

44228276

-
intron-3CDSENST00000486693ENST00000275015CD2APchr6

47445984

+NFKBIEchr6

44228276

-

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FusionProtFeatures for CD2AP_NFKBIE


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

Q9Y5K6

NFKBIE

O00221

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}. Inhibits NF-kappa-B by complexing with and trapping itin the cytoplasm. Inhibits DNA-binding of NF-kappa-B p50-p65 andp50-c-Rel complexes. {ECO:0000269|PubMed:9315679}.

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
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26369_398369501RepeatNote=ANK 4
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26403_432369501RepeatNote=ANK 5
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26436_465369501RepeatNote=ANK 6

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118577_6381640Coiled coilOntology_term=ECO:0000255
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118336_4221640Compositional biasNote=Pro-rich
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118108_1671640DomainSH3 2
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+1181_591640DomainSH3 1%3B truncated
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118269_3301640DomainSH3 3
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118336_3521640MotifSH3-binding
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118378_3971640MotifSH3-binding
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+118410_4221640MotifSH3-binding
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26258_291369501RepeatNote=ANK 1
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26293_322369501RepeatNote=ANK 2
TgeneNFKBIEchr6:47445984chr6:44228276ENST00000275015-26326_355369501RepeatNote=ANK 3


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FusionGeneSequence for CD2AP_NFKBIE


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_CD2AP_ENST00000359314_chr6_47445984_+_NFKBIE_ENST00000275015_chr6_44228276_-_133aa
MGLACLHIATLQKNQPLMELLLRNGADIDVQEGTSGKTALHLAVETQERGLVQFLLQAGAQVDARMLNGCTPLHLAAGRGLMGISSTLCK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_CD2AP_ENST00000359314_chr6_47445984_+_NFKBIE_ENST00000275015_chr6_44228276_-_399nt
ATGGGTCTGGCTTGTCTCCACATTGCCACCCTTCAGAAGAACCAACCACTCATGGAATTGCTGCTTCGGAATGGAGCTGACATTGATGTG
CAGGAGGGCACCAGTGGTAAGACAGCGCTGCACCTGGCTGTGGAAACCCAAGAGCGGGGCCTGGTACAGTTCCTGCTCCAGGCTGGTGCC
CAGGTAGATGCCCGCATGCTGAACGGGTGCACACCCCTGCACCTGGCAGCTGGCCGGGGTCTCATGGGCATCTCATCCACTCTGTGCAAG
GCGGGTGCTGACTCCCTGCTGCGGAATGTGGAGGATGAGACGCCCCAGGACCTGACTGAGGAATCCCTTGTCCTTTTGCCCTTTGATGAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_CD2AP_ENST00000359314_chr6_47445984_+_NFKBIE_ENST00000275015_chr6_44228276_-_1908nt
CTCTGTCTGGGTCCCCACCTTAGTCTACGGTGTCGCCTTTTCTAACTGCGAGTGCTAAGGAAGAGGCGAGGGGCGGGCTCCGAGGCTAGG
CGGGCGCTCGGGGTTGGAGCCGAGGGTCTGGGCAAACCGGTGGGTCCCTCCCCACTGCGGGAGCGGCCAGGGTGGGAAAACCGCGGTCGG
GCGGGCGGGGTAGGGCCCTCCCGCCGCCGTGGCTCCTGGGGAGGCCAGGGGTGAGGAGCTGTCGCCGCCTTTGCCTCTGCCTCGAGGGCC
GCGCTGAAGAGACTGGTAGGAGAGCGCCGCGGGCGGATGGAGGCGACTCTTCGCCCCGCCTGAGCTCAGGAGGGGCTAGCGCGGAGCGCG
GGTCCCGCCTCCAGCCGCGGGAGCGGCCGCGCGAGCCACCACTGGAGGAGGAGGAGGAGGAGCGGACGTCGGCTTCTCCCCGCGGGAGCC
CCCAGCATGGGTCTGGCTTGTCTCCACATTGCCACCCTTCAGAAGAACCAACCACTCATGGAATTGCTGCTTCGGAATGGAGCTGACATT
GATGTGCAGGAGGGCACCAGTGGTAAGACAGCGCTGCACCTGGCTGTGGAAACCCAAGAGCGGGGCCTGGTACAGTTCCTGCTCCAGGCT
GGTGCCCAGGTAGATGCCCGCATGCTGAACGGGTGCACACCCCTGCACCTGGCAGCTGGCCGGGGTCTCATGGGCATCTCATCCACTCTG
TGCAAGGCGGGTGCTGACTCCCTGCTGCGGAATGTGGAGGATGAGACGCCCCAGGACCTGACTGAGGAATCCCTTGTCCTTTTGCCCTTT
GATGACCTGAAGATCTCAGGGAAACTGCTGCTGTGTACCGACTGAAGCCAGGCAGGGTCTGGGATCCTCAGGGCTCCACCTCTCCATCTG
GAAGCCGGAGCCATAACTGCTGCAGTTTGGGCCCAGGCTATGTGCTCTTCTGGTGCCCTAGGGACTGCTGTGGCCAGAGCCTGGGGCCAG
CCAGTACAGTCCTGAGCCGAGGAGGAGGGACTGCAAGTGGAAGAGAGCCAGTCTGGAAGGAAGAGCTTTCCAGGTGGACAGGGCTTCTTG
GAAGACCCCCAAAGCCCCAGGTATCCTGGGTGAAGCCTGTTTGCCTCTCTTGAAAATGGCAGGTGCTCTTGTTTTACCCATGTTGGGTCA
GCCTGAAACTGCCAACCAGTAGGAAGCATGGACTCTCCTGAGTGAGAAGAGACTGAAATAGGAGCAAGCAGAACCCTGAGAGGTGTCCCA
TCTTATTGCTGTTGAGGACCCTGAAACACCGTTGTTTAAAGACTTCACACAGAAGGCTCTGAACTGAGCCACTGGGGAAGGGAAGTTTCA
GTAACATGACACTAAAATGGCAGAGACGTTAAAAAAAGTTTTTCCCTTCTAGAGCTGTTTTGCGCGCATGCATGTCTGTGTGCATTGGGG
CTTTTTAGACAGGCCTGCCCTGTGACTTTGTGGTAGAGGCAGAGAGAAGGAAATTGTCCCCTGAGCACGGTAGGGCCTTGCTGGGTGGGG
TCAGAGGCCAGTAGTTCCAGGCCTTTCTCTGTGTCCAGCACAGACCCTTGTCCTTGCTGTGGAAATGATGAGGGATGGAGGGACAAGAGG
AAGAATGAGAGGACACACGCCCTGGAGCCCTCACCACTGCCCTGGGGGTTGCCATCTGGAGGAGCCTGGGGATAAGGGTAACCCAGGGAG
GCTGGGCACGAGGGAGCTGACTCCACGTTTTTCCCCCCGTTCCTCACCTTCGAGGGCCCTGCTAGGTCACCCCTATGCTGGCATGAAGAG
CATGGGGCAATAAACCAGCACAGTCTCTGACCACTTGGAGCGTCTCATCCAGTGAGAGAGACAGCCGTTAAAAGCATAAACATCCAAATA


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FusionGenePPI for CD2AP_NFKBIE


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, UBE2ANFKBIEJUP, REL, NFKB1, RELA, NFKB2, NCOR2, HDAC4, HDAC5, LOC440434, ANKHD1, C1QBP, KBTBD7, BTRC, C2orf27B, XPO1, NFKBIA, YEATS4, PRPF4, SKA3, CDH1, RELB, DLD


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
HgeneCD2APchr6:47445984chr6:44228276ENST00000359314+1181_1751640ANLN and localization to the midbody


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_NFKBIE


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_NFKBIE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCD2APC0002395Alzheimer's Disease2CTD_human
TgeneNFKBIEC0003873Rheumatoid Arthritis1CTD_human
TgeneNFKBIEC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneNFKBIEC0025202melanoma1CTD_human