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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: 5044

FusionGeneSummary for C6orf120_FGD1

check button Fusion gene summary
Fusion gene informationFusion gene name: C6orf120_FGD1
Fusion gene ID: 5044
HgeneTgene
Gene symbol

C6orf120

FGD1

Gene ID

387263

2245

Gene namechromosome 6 open reading frame 120FYVE, RhoGEF and PH domain containing 1
Synonyms-AAS|FGDY|MRXS16|ZFYVE3
Cytomap

6q27

Xp11.22

Type of geneprotein-codingprotein-coding
DescriptionUPF0669 protein C6orf120FYVE, RhoGEF and PH domain-containing protein 1faciogenital dysplasia 1 proteinrho/Rac GEFrho/Rac guanine nucleotide exchange factor FGD1zinc finger FYVE domain-containing protein 3
Modification date2018051920180519
UniProtAcc

Q7Z4R8

P98174

Ensembl transtripts involved in fusion geneENST00000439249, ENST00000332290, 
ENST00000375135, 
Fusion gene scores* DoF score1 X 1 X 1=12 X 2 X 2=8
# samples 12
** MAII scorelog2(1/1*10)=3.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: C6orf120 [Title/Abstract] AND FGD1 [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
TgeneFGD1

GO:0030036

actin cytoskeleton organization

8969170

TgeneFGD1

GO:0043087

regulation of GTPase activity

8969170

TgeneFGD1

GO:0046847

filopodium assembly

8969170


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
ChiTaRS3.1BF757898C6orf120chr6

170105377

-FGD1chrX

54493613

-
* 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-intronENST00000439249ENST00000375135C6orf120chr6

170105377

-FGD1chrX

54493613

-
3UTR-intronENST00000332290ENST00000375135C6orf120chr6

170105377

-FGD1chrX

54493613

-

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FusionProtFeatures for C6orf120_FGD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C6orf120

Q7Z4R8

FGD1

P98174

May be involved in induction of apoptosis in CD4(+) T-cells, but not CD8(+) T-cells or hepatocytes.{ECO:0000269|PubMed:22340178}. Activates CDC42, a member of the Ras-like family ofRho- and Rac proteins, by exchanging bound GDP for free GTP. Playsa role in regulating the actin cytoskeleton and cell shape.{ECO:0000269|PubMed:8969170}.

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 C6orf120_FGD1


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 C6orf120_FGD1


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 C6orf120_FGD1


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 C6orf120_FGD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFGD1C0175701Aarskog syndrome6CTD_human;ORPHANET;UNIPROT
TgeneFGD1C0018273Growth Disorders4CTD_human
TgeneFGD1C0042063Urogenital Abnormalities3CTD_human
TgeneFGD1C0016508Congenital Foot Deformity1CTD_human
TgeneFGD1C0376634Craniofacial Abnormalities1CTD_human
TgeneFGD1C0497552Congenital neurologic anomalies1CTD_human
TgeneFGD1C1136249Mental Retardation, X-Linked1CTD_human
TgeneFGD1C1263846Attention deficit hyperactivity disorder1CTD_human;HPO