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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: 1038

FusionGeneSummary for AFP_SORT1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFP_SORT1
Fusion gene ID: 1038
HgeneTgene
Gene symbol

AFP

SORT1

Gene ID

7726

6272

Gene nametripartite motif containing 26sortilin 1
SynonymsAFP|RNF95|ZNF173Gp95|LDLCQ6|NT3|NTR3
Cytomap

6p22.1

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

Type of geneprotein-codingprotein-coding
Descriptiontripartite motif-containing protein 26RING finger protein 95acid finger proteinwidely expressed acid zinc finger proteinzinc finger protein 173sortilin100 kDa NT receptorglycoprotein 95neurotensin receptor 3
Modification date2018051920180522
UniProtAcc

P02771

Q99523

Ensembl transtripts involved in fusion geneENST00000395792, ENST00000226359, 
ENST00000506820, 
ENST00000256637, 
ENST00000538502, ENST00000482236, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 8 X 5=280
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/280*10)=-1.63742992061529
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFP [Title/Abstract] AND SORT1 [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
HgeneAFP

GO:0045087

innate immune response

18248090

HgeneAFP

GO:0046597

negative regulation of viral entry into host cell

18248090

HgeneAFP

GO:0051091

positive regulation of DNA binding transcription factor activity

23077300

HgeneAFP

GO:1902187

negative regulation of viral release from host cell

18248090

TgeneSORT1

GO:0006895

Golgi to endosome transport

11331584

TgeneSORT1

GO:0006897

endocytosis

11331584

TgeneSORT1

GO:0007218

neuropeptide signaling pathway

9756851

TgeneSORT1

GO:0008333

endosome to lysosome transport

11331584

TgeneSORT1

GO:0008625

extrinsic apoptotic signaling pathway via death domain receptors

14985763

TgeneSORT1

GO:0016050

vesicle organization

15992544

TgeneSORT1

GO:0032509

endosome transport via multivesicular body sorting pathway

11331584

TgeneSORT1

GO:0048227

plasma membrane to endosome transport

11331584

TgeneSORT1

GO:0051005

negative regulation of lipoprotein lipase activity

10085125


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
ChiTaRS3.1BP238936AFPchr4

74315824

+SORT1chr1

109855264

-
* 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-3UTRENST00000395792ENST00000256637AFPchr4

74315824

+SORT1chr1

109855264

-
5CDS-intronENST00000395792ENST00000538502AFPchr4

74315824

+SORT1chr1

109855264

-
5CDS-intronENST00000395792ENST00000482236AFPchr4

74315824

+SORT1chr1

109855264

-
5CDS-3UTRENST00000226359ENST00000256637AFPchr4

74315824

+SORT1chr1

109855264

-
5CDS-intronENST00000226359ENST00000538502AFPchr4

74315824

+SORT1chr1

109855264

-
5CDS-intronENST00000226359ENST00000482236AFPchr4

74315824

+SORT1chr1

109855264

-
intron-3UTRENST00000506820ENST00000256637AFPchr4

74315824

+SORT1chr1

109855264

-
intron-intronENST00000506820ENST00000538502AFPchr4

74315824

+SORT1chr1

109855264

-
intron-intronENST00000506820ENST00000482236AFPchr4

74315824

+SORT1chr1

109855264

-

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FusionProtFeatures for AFP_SORT1


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

P02771

SORT1

Q99523

Binds copper, nickel, and fatty acids as well as, andbilirubin less well than, serum albumin. Only a small percentage(less than 2%) of the human AFP shows estrogen-binding properties. Functions as a sorting receptor in the Golgi compartmentand as a clearance receptor on the cell surface. Required forprotein transport from the Golgi apparatus to the lysosomes by apathway that is independent of the mannose-6-phosphate receptor(M6PR). Also required for protein transport from the Golgiapparatus to the endosomes. Promotes neuronal apoptosis bymediating endocytosis of the proapoptotic precursor forms of BDNF(proBDNF) and NGFB (proNGFB). Also acts as a receptor forneurotensin. May promote mineralization of the extracellularmatrix during osteogenic differentiation by scavengingextracellular LPL. Probably required in adipocytes for theformation of specialized storage vesicles containing the glucosetransporter SLC2A4/GLUT4 (GLUT4 storage vesicles, or GSVs). Thesevesicles provide a stable pool of SLC2A4 and confer increasedresponsiveness to insulin. May also mediate transport from theendoplasmic reticulum to the Golgi. {ECO:0000269|PubMed:10085125,ECO:0000269|PubMed:11331584, ECO:0000269|PubMed:11390366,ECO:0000269|PubMed:12209882, ECO:0000269|PubMed:12598608,ECO:0000269|PubMed:14657016, ECO:0000269|PubMed:14985763,ECO:0000269|PubMed:15313463, ECO:0000269|PubMed:15930396,ECO:0000269|PubMed:15987945}.

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 AFP_SORT1


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 AFP_SORT1


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 AFP_SORT1


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 AFP_SORT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAFPC2239176Liver carcinoma3CTD_human
HgeneAFPC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAFPC0023895Liver diseases1CTD_human
HgeneAFPC0023904Liver Neoplasms, Experimental1CTD_human
HgeneAFPC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneAFPC0038356Stomach Neoplasms1CTD_human
HgeneAFPC1458155Mammary Neoplasms1CTD_human
TgeneSORT1C0007222Cardiovascular Diseases1CTD_human
TgeneSORT1C1956346Coronary Artery Disease1CTD_human