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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: 13347

FusionGeneSummary for FGD4_KIAA1551

check button Fusion gene summary
Fusion gene informationFusion gene name: FGD4_KIAA1551
Fusion gene ID: 13347
HgeneTgene
Gene symbol

FGD4

KIAA1551

Gene ID

121512

55196

Gene nameFYVE, RhoGEF and PH domain containing 4KIAA1551
SynonymsCMT4H|FRABP|ZFYVE6C12orf35|GET|UTA2-1
Cytomap

12p11.21

12p11.21

Type of geneprotein-codingprotein-coding
DescriptionFYVE, RhoGEF and PH domain-containing protein 4FGD1 family, member 4FGD1-related F-actin-binding proteinactin-filament binding protein frabinzinc finger FYVE domain-containing protein 6uncharacterized protein KIAA1551gonad expressed transcriptuncharacterized protein C12orf35
Modification date2018051920180523
UniProtAcc

Q96M96

Q9HCM1

Ensembl transtripts involved in fusion geneENST00000534526, ENST00000531134, 
ENST00000427716, ENST00000266482, 
ENST00000546442, ENST00000525053, 
ENST00000381025, ENST00000472289, 
ENST00000473513, 
ENST00000312561, 
ENST00000535596, 
Fusion gene scores* DoF score14 X 9 X 12=15121 X 1 X 1=1
# samples 151
** MAII scorelog2(15/1512*10)=-3.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: FGD4 [Title/Abstract] AND KIAA1551 [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
TCGALDTGCTTCGA-YU-A90Y-01AFGD4chr12

32751520

+KIAA1551chr12

32140173

+
* 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
Frame-shiftENST00000534526ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5CDS-3UTRENST00000534526ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
Frame-shiftENST00000531134ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5CDS-3UTRENST00000531134ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
Frame-shiftENST00000427716ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5CDS-3UTRENST00000427716ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5UTR-3CDSENST00000266482ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5UTR-3UTRENST00000266482ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
Frame-shiftENST00000546442ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5CDS-3UTRENST00000546442ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
Frame-shiftENST00000525053ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5CDS-3UTRENST00000525053ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5UTR-3CDSENST00000381025ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
5UTR-3UTRENST00000381025ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
intron-3CDSENST00000472289ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
intron-3UTRENST00000472289ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+
intron-3CDSENST00000473513ENST00000312561FGD4chr12

32751520

+KIAA1551chr12

32140173

+
intron-3UTRENST00000473513ENST00000535596FGD4chr12

32751520

+KIAA1551chr12

32140173

+

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FusionProtFeatures for FGD4_KIAA1551


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FGD4

Q96M96

KIAA1551

Q9HCM1

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.Activates MAPK8 (By similarity). {ECO:0000250,ECO:0000269|PubMed:15133042}.

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 FGD4_KIAA1551


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 FGD4_KIAA1551


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
FGD4CAPZA2, FGD3, PRKCAKIAA1551EXOC1, NANOG, MDM2


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 FGD4_KIAA1551


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 FGD4_KIAA1551


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFGD4C1836336CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H2CTD_human;ORPHANET;UNIPROT