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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: 12688

FusionGeneSummary for FAM193A_SGSM2

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM193A_SGSM2
Fusion gene ID: 12688
HgeneTgene
Gene symbol

FAM193A

SGSM2

Gene ID

8603

9905

Gene namefamily with sequence similarity 193 member Asmall G protein signaling modulator 2
SynonymsC4orf8|RES4-22RUTBC1
Cytomap

4p16.3

17p13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM193Asmall G protein signaling modulator 2RUN and TBC1 domain containing 1small G protein signaling modulator 2 protein
Modification date2018051920180523
UniProtAcc

P78312

O43147

Ensembl transtripts involved in fusion geneENST00000545951, ENST00000382839, 
ENST00000324666, ENST00000502458, 
ENST00000505311, 
ENST00000268989, 
ENST00000426855, ENST00000574563, 
Fusion gene scores* DoF score10 X 8 X 8=6404 X 4 X 3=48
# samples 114
** MAII scorelog2(11/640*10)=-2.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FAM193A [Title/Abstract] AND SGSM2 [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
ChiTaRS3.1CV571420FAM193Achr4

2661770

+SGSM2chr17

2282907

+
* 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
5CDS-3UTRENST00000545951ENST00000268989FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000545951ENST00000426855FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-intronENST00000545951ENST00000574563FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000382839ENST00000268989FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000382839ENST00000426855FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-intronENST00000382839ENST00000574563FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000324666ENST00000268989FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000324666ENST00000426855FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-intronENST00000324666ENST00000574563FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000502458ENST00000268989FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000502458ENST00000426855FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-intronENST00000502458ENST00000574563FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000505311ENST00000268989FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-3UTRENST00000505311ENST00000426855FAM193Achr4

2661770

+SGSM2chr17

2282907

+
5CDS-intronENST00000505311ENST00000574563FAM193Achr4

2661770

+SGSM2chr17

2282907

+

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FusionProtFeatures for FAM193A_SGSM2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM193A

P78312

SGSM2

O43147

Possesses GTPase activator activity towards RAB32,RAB33B and RAB38 (PubMed:26620560, PubMed:21808068). Regulates thetrafficking of melanogenic enzymes TYR, TYRP1 and DCT/TYRP2 tomelanosomes in melanocytes by inactivating RAB32 and RAB38.Inhibits RAB32 and RAB38 activation both directly by promotingtheir GTPase activity and indirectly by disrupting the RAB9A-HPS4interaction which is required for RAB32/38 activation(PubMed:26620560). {ECO:0000269|PubMed:21808068,ECO:0000269|PubMed:26620560}.

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 FAM193A_SGSM2


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 FAM193A_SGSM2


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 FAM193A_SGSM2


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 FAM193A_SGSM2


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