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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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Fusion gene ID: 35419

FusionGeneSummary for SORT1_FAF1

check button Fusion gene summary
Fusion gene informationFusion gene name: SORT1_FAF1
Fusion gene ID: 35419
HgeneTgene
Gene symbol

SORT1

FAF1

Gene ID

6272

11124

Gene namesortilin 1Fas associated factor 1
SynonymsGp95|LDLCQ6|NT3|NTR3CGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1
Cytomap

1p13.3|1p21.3-p13.1

1p32.3

Type of geneprotein-codingprotein-coding
Descriptionsortilin100 kDa NT receptorglycoprotein 95neurotensin receptor 3FAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3A
Modification date2018052220180522
UniProtAcc

Q99523

Q9UNN5

Ensembl transtripts involved in fusion geneENST00000256637, ENST00000538502, 
ENST00000482236, 
ENST00000396153, 
ENST00000371778, ENST00000545823, 
ENST00000472808, 
Fusion gene scores* DoF score6 X 6 X 2=7217 X 15 X 9=2295
# samples 622
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(22/2295*10)=-3.38291872477651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SORT1 [Title/Abstract] AND FAF1 [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
HgeneSORT1

GO:0006895

Golgi to endosome transport

11331584

HgeneSORT1

GO:0006897

endocytosis

11331584

HgeneSORT1

GO:0007218

neuropeptide signaling pathway

9756851

HgeneSORT1

GO:0008333

endosome to lysosome transport

11331584

HgeneSORT1

GO:0008625

extrinsic apoptotic signaling pathway via death domain receptors

14985763

HgeneSORT1

GO:0016050

vesicle organization

15992544

HgeneSORT1

GO:0032509

endosome transport via multivesicular body sorting pathway

11331584

HgeneSORT1

GO:0048227

plasma membrane to endosome transport

11331584

HgeneSORT1

GO:0051005

negative regulation of lipoprotein lipase activity

10085125

TgeneFAF1

GO:0010942

positive regulation of cell death

15596450


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
ChiTaRS3.1DB467995SORT1chr1

109935649

-FAF1chr1

51061890

-
* 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-3CDSENST00000256637ENST00000396153SORT1chr1

109935649

-FAF1chr1

51061890

-
intron-3CDSENST00000256637ENST00000371778SORT1chr1

109935649

-FAF1chr1

51061890

-
intron-3CDSENST00000256637ENST00000545823SORT1chr1

109935649

-FAF1chr1

51061890

-
intron-5UTRENST00000256637ENST00000472808SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000538502ENST00000396153SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000538502ENST00000371778SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000538502ENST00000545823SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-5UTRENST00000538502ENST00000472808SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000482236ENST00000396153SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000482236ENST00000371778SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-3CDSENST00000482236ENST00000545823SORT1chr1

109935649

-FAF1chr1

51061890

-
5UTR-5UTRENST00000482236ENST00000472808SORT1chr1

109935649

-FAF1chr1

51061890

-

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FusionProtFeatures for SORT1_FAF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SORT1

Q99523

FAF1

Q9UNN5