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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: 13910

FusionGeneSummary for FRMD6_SCFD1

check button Fusion gene summary
Fusion gene informationFusion gene name: FRMD6_SCFD1
Fusion gene ID: 13910
HgeneTgene
Gene symbol

FRMD6

SCFD1

Gene ID

122786

23256

Gene nameFERM domain containing 6sec1 family domain containing 1
SynonymsC14orf31|EX1|Willin|c14_5320C14orf163|RA410|SLY1|SLY1P|STXBP1L2
Cytomap

14q22.1

14q12

Type of geneprotein-codingprotein-coding
DescriptionFERM domain-containing protein 64.1 ezrin radixin moesin (FERM)-containing proteinexpanded homologsec1 family domain-containing protein 1syntaxin-binding protein 1-like 2vesicle transport-related protein
Modification date2018052320180519
UniProtAcc

Q96NE9

Q8WVM8

Ensembl transtripts involved in fusion geneENST00000356218, ENST00000557103, 
ENST00000395718, ENST00000344768, 
ENST00000554167, ENST00000553556, 
ENST00000458591, ENST00000421551, 
ENST00000544052, ENST00000541123, 
ENST00000396629, ENST00000554486, 
Fusion gene scores* DoF score5 X 3 X 4=607 X 6 X 5=210
# samples 57
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FRMD6 [Title/Abstract] AND SCFD1 [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-44-7670-01AFRMD6chr14

52118714

+SCFD1chr14

31163979

+
* 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-3CDSENST00000356218ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000356218ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000356218ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000356218ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000356218ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3UTRENST00000356218ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000557103ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000557103ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000557103ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000557103ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000557103ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3UTRENST00000557103ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000395718ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000395718ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000395718ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000395718ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000395718ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3UTRENST00000395718ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000344768ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000344768ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000344768ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000344768ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3CDSENST00000344768ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
5UTR-3UTRENST00000344768ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000554167ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000554167ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000554167ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000554167ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000554167ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3UTRENST00000554167ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000553556ENST00000458591FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000553556ENST00000421551FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000553556ENST00000544052FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000553556ENST00000541123FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3CDSENST00000553556ENST00000396629FRMD6chr14

52118714

+SCFD1chr14

31163979

+
intron-3UTRENST00000553556ENST00000554486FRMD6chr14

52118714

+SCFD1chr14

31163979

+

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FusionProtFeatures for FRMD6_SCFD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FRMD6

Q96NE9

SCFD1

Q8WVM8


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 FRMD6_SCFD1


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 FRMD6_SCFD1


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
FRMD6RASSF8, TSC22D4, MLH1, YWHAB, YWHAG, SUV39H1, BLZF1, DNAJA3, IKZF1, EXOC5, MID2, JMJD6, WDR7, MED4, GMCL1, HMBOX1, LZTS2, SSX2IP, COX6B2, LOC727751, TP53BP2, SNX17, RASSF7, KCTD17, YWHAH, YWHAQ, TCF12, MAK16, APPSCFD1STX18, DLST, USP22, USO1, DKKL1, KAT5, APPBP2, GOSR1, NSF, CUL5, LRRK2, MRPL13, ATP6V0A1, SNAP23, MRPL15, SLC25A46, MRPL40, MRPL49, ILF2, HSPA6, OGDH, HOOK3, MPV17, SLC25A3, DNAJA3, VAMP2, MRPL32, VCP, SOX2, STAU1, MOV10, NXF1, EGFR, STX6, USE1, STX5, MRPL9, VPS45, NTRK1, FBF1, EVC2, TMEM17, TMEM216, PDGFRA, RAB5C, ATP6AP2, MCM2, VAMP4, SEC22B


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 FRMD6_SCFD1


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 FRMD6_SCFD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSCFD1C0002736Amyotrophic Lateral Sclerosis1CTD_human