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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: 34767

FusionGeneSummary for SMAP1_CGA

check button Fusion gene summary
Fusion gene informationFusion gene name: SMAP1_CGA
Fusion gene ID: 34767
HgeneTgene
Gene symbol

SMAP1

CGA

Gene ID

60682

1113

Gene namesmall ArfGAP 1chromogranin A
SynonymsSMAP-1CGA
Cytomap

6q13

14q32.12

Type of geneprotein-codingprotein-coding
Descriptionstromal membrane-associated protein 1stromal membrane-associated GTPase-activating protein 1chromogranin-ASP-Ibetagranin (N-terminal fragment of chromogranin A)catestatinchromofunginparathyroid secretory protein 1pituitary secretory protein I
Modification date2018052320180523
UniProtAcc

Q8IYB5

P01215

Ensembl transtripts involved in fusion geneENST00000316999, ENST00000370452, 
ENST00000370455, ENST00000422334, 
ENST00000369582, 
Fusion gene scores* DoF score6 X 5 X 5=1508 X 6 X 4=192
# samples 69
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/192*10)=-1.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SMAP1 [Title/Abstract] AND CGA [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
TgeneCGA

GO:0002551

mast cell chemotaxis

21214543

TgeneCGA

GO:0032762

mast cell cytokine production

21214543

TgeneCGA

GO:0033604

negative regulation of catecholamine secretion

15326220

TgeneCGA

GO:0043303

mast cell degranulation

21214543

TgeneCGA

GO:0045576

mast cell activation

21214543

TgeneCGA

GO:0050829

defense response to Gram-negative bacterium

15723172

TgeneCGA

GO:0050830

defense response to Gram-positive bacterium

15723172


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
TCGARVPRADTCGA-CH-5737-01ASMAP1chr6

71483128

+CGAchr6

87797925

-
* 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-5UTRENST00000316999ENST00000369582SMAP1chr6

71483128

+CGAchr6

87797925

-
5CDS-5UTRENST00000370452ENST00000369582SMAP1chr6

71483128

+CGAchr6

87797925

-
5CDS-5UTRENST00000370455ENST00000369582SMAP1chr6

71483128

+CGAchr6

87797925

-
3UTR-5UTRENST00000422334ENST00000369582SMAP1chr6

71483128

+CGAchr6

87797925

-

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FusionProtFeatures for SMAP1_CGA


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

Q8IYB5

CGA

P01215

GTPase activating protein that acts on ARF6. Plays arole in clathrin-dependent endocytosis. May play a role inerythropoiesis (By similarity). {ECO:0000250}. Shared alpha chain of the active heterodimericglycoprotein hormones thyrotropin/thyroid stimulating hormone/TSH,lutropin/luteinizing hormone/LH, follitropin/follicle stimulatinghormone/FSH and choriogonadotropin/CG. These hormones bindspecific receptors on target cells that in turn activatedownstream signaling pathways. {ECO:0000269|PubMed:24692546,ECO:0000269|PubMed:2494176}.

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_CGA


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_CGA


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, XPO1CGAPTN, FSHB, LHCGR, CGB, PTPN12


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_CGA


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_CGA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCGAC0001621Adrenal Gland Diseases1CTD_human
TgeneCGAC0018991Hemiplegia1CTD_human
TgeneCGAC0028960Oligospermia1CTD_human
TgeneCGAC0029928Ovarian Diseases1CTD_human
TgeneCGAC0042131Uterine Diseases1CTD_human
TgeneCGAC2931367Thyroid cancer, follicular1CTD_human