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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: 6901

FusionGeneSummary for CFL1_CCDC88C

check button Fusion gene summary
Fusion gene informationFusion gene name: CFL1_CCDC88C
Fusion gene ID: 6901
HgeneTgene
Gene symbol

CFL1

CCDC88C

Gene ID

6944

440193

Gene namevacuolar protein sorting 72 homologcoiled-coil domain containing 88C
SynonymsCFL1|Swc2|TCFL1|YL-1|YL1DAPLE|HKRP2|KIAA1509|SCA40
Cytomap

1q21.3

14q32.11-q32.12

Type of geneprotein-codingprotein-coding
Descriptionvacuolar protein sorting-associated protein 72 homologtranscription factor-like 1transformation suppressor gene YL-1protein DapleDvl-associating protein with a high frequency of leucine residueshook-related protein 2spinocerebellar ataxia 40
Modification date2018052320180523
UniProtAcc

P23528

Q9P219

Ensembl transtripts involved in fusion geneENST00000530157, ENST00000525451, 
ENST00000308162, ENST00000527344, 
ENST00000531407, ENST00000524553, 
ENST00000534769, ENST00000531413, 
ENST00000389857, ENST00000331194, 
ENST00000389856, ENST00000553403, 
ENST00000554165, 
Fusion gene scores* DoF score7 X 8 X 2=1127 X 7 X 5=245
# samples 88
** MAII scorelog2(8/112*10)=-0.485426827170242
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/245*10)=-1.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CFL1 [Title/Abstract] AND CCDC88C [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
ChiTaRS3.1BG744763CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
* 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-3CDSENST00000530157ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000530157ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000530157ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000530157ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000530157ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000525451ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000525451ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000525451ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000525451ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000525451ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000308162ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000308162ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000308162ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000308162ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000308162ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000527344ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000527344ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000527344ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000527344ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000527344ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000531407ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531407ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531407ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531407ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531407ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000524553ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000524553ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000524553ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000524553ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000524553ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000534769ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000534769ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000534769ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000534769ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000534769ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-3CDSENST00000531413ENST00000389857CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531413ENST00000331194CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531413ENST00000389856CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531413ENST00000553403CFL1chr11

65622777

+CCDC88Cchr14

91779621

+
intron-intronENST00000531413ENST00000554165CFL1chr11

65622777

+CCDC88Cchr14

91779621

+

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FusionProtFeatures for CFL1_CCDC88C


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CFL1

P23528

CCDC88C

Q9P219

Binds to F-actin and exhibits pH-sensitive F-actindepolymerizing activity. Regulates actin cytoskeleton dynamics.Important for normal progress through mitosis and normalcytokinesis. Plays a role in the regulation of cell morphology andcytoskeletal organization. Required for the up-regulation ofatypical chemokine receptor ACKR2 from endosomal compartment tocell membrane, increasing its efficiency in chemokine uptake anddegradation (PubMed:11812157, PubMed:15580268, PubMed:21834987,PubMed:23633677). Required for neural tube morphogenesis andneural crest cell migration (By similarity).{ECO:0000250|UniProtKB:P18760, ECO:0000269|PubMed:11812157,ECO:0000269|PubMed:15580268, ECO:0000269|PubMed:21834987,ECO:0000269|PubMed:23633677}. Negative regulator of the canonical Wnt signalingpathway, acting downstream of DVL to inhibit CTNNB1/Beta-cateninstabilization (By similarity). May also activate the JNK signalingpathway (PubMed:25062847). {ECO:0000250|UniProtKB:Q6VGS5,ECO:0000269|PubMed:25062847}.

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 CFL1_CCDC88C


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 CFL1_CCDC88C


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 CFL1_CCDC88C


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCFL1P23528DB11638ArtenimolCofilin-1small moleculeapproved|investigational

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RelatedDiseases for CFL1_CCDC88C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCFL1C0027626Neoplasm Invasiveness1CTD_human
HgeneCFL1C0027627Neoplasm Metastasis1CTD_human
HgeneCFL1C0032927Precancerous Conditions1CTD_human
HgeneCFL1C0080178Spina Bifida1CTD_human
HgeneCFL1C0279626Squamous cell carcinoma of esophagus1CTD_human
HgeneCFL1C1458155Mammary Neoplasms1CTD_human