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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: 5800

FusionGeneSummary for CCDC146_EPB41L4B

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC146_EPB41L4B
Fusion gene ID: 5800
HgeneTgene
Gene symbol

CCDC146

EPB41L4B

Gene ID

57639

54566

Gene namecoiled-coil domain containing 146erythrocyte membrane protein band 4.1 like 4B
Synonyms-CG1|EHM2
Cytomap

7q11.23

9q31.3

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 146band 4.1-like protein 4BFERM-containing protein CG1
Modification date2018051920180523
UniProtAcc

Q8IYE0

Q9H329

Ensembl transtripts involved in fusion geneENST00000431197, ENST00000285871, 
ENST00000415740, 
ENST00000374566, 
ENST00000374557, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 3=60
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC146 [Title/Abstract] AND EPB41L4B [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
TgeneEPB41L4B

GO:0031032

actomyosin structure organization

22006950

TgeneEPB41L4B

GO:0042060

wound healing

23664528


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
ChiTaRS3.1Z36531CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
* 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
intron-intronENST00000431197ENST00000374566CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
intron-3UTRENST00000431197ENST00000374557CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
intron-intronENST00000285871ENST00000374566CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
intron-3UTRENST00000285871ENST00000374557CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
intron-intronENST00000415740ENST00000374566CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-
intron-3UTRENST00000415740ENST00000374557CCDC146chr7

76825492

-EPB41L4Bchr9

112002728

-

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FusionProtFeatures for CCDC146_EPB41L4B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC146

Q8IYE0

EPB41L4B

Q9H329

Up-regulates the activity of the Rho guanine nucleotideexchange factor ARHGEF18 (By similarity). Involved in theregulation of the circumferential actomyosin belt in epithelialcells (PubMed:22006950). Promotes cellular adhesion, migration andmotility in vitro and may play a role in wound healing(PubMed:23664528). May have a role in mediating cytoskeletalchanges associated with steroid-induced cell differentiation(PubMed:14521927). {ECO:0000250|UniProtKB:Q9JMC8,ECO:0000269|PubMed:14521927, ECO:0000269|PubMed:22006950,ECO:0000269|PubMed:23664528}.

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 CCDC146_EPB41L4B


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 CCDC146_EPB41L4B


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 CCDC146_EPB41L4B


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 CCDC146_EPB41L4B


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