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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: 34768

FusionGeneSummary for SMAP1_FAR2

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAP1_FAR2
Fusion gene ID: 34768
HgeneTgene
Gene symbol

SMAP1

FAR2

Gene ID

60682

55711

Gene namesmall ArfGAP 1fatty acyl-CoA reductase 2
SynonymsSMAP-1HEL-S-81|MLSTD1|SDR10E2
Cytomap

6q13

12p11.22

Type of geneprotein-codingprotein-coding
Descriptionstromal membrane-associated protein 1stromal membrane-associated GTPase-activating protein 1fatty acyl-CoA reductase 2epididymis secretory protein Li 81male sterility domain-containing protein 1short chain dehydrogenase/reductase family 10E, member 2
Modification date2018052320180523
UniProtAcc

Q8IYB5

Q96K12

Ensembl transtripts involved in fusion geneENST00000316999, ENST00000370452, 
ENST00000370455, ENST00000422334, 
ENST00000536681, ENST00000549080, 
ENST00000182377, ENST00000547116, 
Fusion gene scores* DoF score6 X 5 X 5=1503 X 2 X 3=18
# samples 63
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMAP1 [Title/Abstract] AND FAR2 [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
TgeneFAR2

GO:0035336

long-chain fatty-acyl-CoA metabolic process

15220348


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
TCGARVSKCMTCGA-ER-A19T-01ASMAP1chr6

71508440

+FAR2chr12

29423345

+
* 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-5UTRENST00000316999ENST00000536681SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000316999ENST00000549080SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-5UTRENST00000316999ENST00000182377SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000316999ENST00000547116SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-5UTRENST00000370452ENST00000536681SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000370452ENST00000549080SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-5UTRENST00000370452ENST00000182377SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000370452ENST00000547116SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-5UTRENST00000370455ENST00000536681SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000370455ENST00000549080SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-5UTRENST00000370455ENST00000182377SMAP1chr6

71508440

+FAR2chr12

29423345

+
5CDS-intronENST00000370455ENST00000547116SMAP1chr6

71508440

+FAR2chr12

29423345

+
intron-5UTRENST00000422334ENST00000536681SMAP1chr6

71508440

+FAR2chr12

29423345

+
intron-intronENST00000422334ENST00000549080SMAP1chr6

71508440

+FAR2chr12

29423345

+
intron-5UTRENST00000422334ENST00000182377SMAP1chr6

71508440

+FAR2chr12

29423345

+
intron-intronENST00000422334ENST00000547116SMAP1chr6

71508440

+FAR2chr12

29423345

+

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FusionProtFeatures for SMAP1_FAR2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMAP1

Q8IYB5

FAR2

Q96K12

GTPase activating protein that acts on ARF6. Plays arole in clathrin-dependent endocytosis. May play a role inerythropoiesis (By similarity). {ECO:0000250}. Catalyzes the reduction of saturated but not unsaturatedC16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity canbe observed with shorter fatty acyl-CoA substrates(PubMed:15220348). It may play a role in the production of etherlipids/plasmalogens and wax monoesters which synthesis requiresfatty alcohols as substrates (By similarity).{ECO:0000250|UniProtKB:Q8WVX9, ECO:0000269|PubMed:15220348}.

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 SMAP1_FAR2


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 SMAP1_FAR2


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
SMAP1BRF2, PHLDA3, PTP4A3, WRAP73, APP, MICU2, HSPA1L, KLHL18, XPO1FAR2PEX19, SLC39A4, VSIG4, ERGIC3, IQCF1, ATP2B2, B4GAT1, SCN3B, PCDHGB1, SLC39A12, CHRNA3, VNN2, GRPR


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 SMAP1_FAR2


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 SMAP1_FAR2


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