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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: 1042

FusionGeneSummary for AFTPH_SOS2

check button Fusion gene summary
Fusion gene informationFusion gene name: AFTPH_SOS2
Fusion gene ID: 1042
HgeneTgene
Gene symbol

AFTPH

SOS2

Gene ID

54812

6655

Gene nameaftiphilinSOS Ras/Rho guanine nucleotide exchange factor 2
SynonymsNbla10388NS9|SOS-2
Cytomap

2p14

14q21.3

Type of geneprotein-codingprotein-coding
Descriptionaftiphilinaftiphilin proteinson of sevenless homolog 2guanine nucleotide releasing factor
Modification date2018052320180522
UniProtAcc

Q6ULP2

Q07890

Ensembl transtripts involved in fusion geneENST00000238855, ENST00000422803, 
ENST00000238856, ENST00000409933, 
ENST00000409183, ENST00000487769, 
ENST00000216373, ENST00000543680, 
ENST00000555794, 
Fusion gene scores* DoF score6 X 5 X 5=1508 X 9 X 7=504
# samples 711
** MAII scorelog2(7/150*10)=-1.09953567355091
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFTPH [Title/Abstract] AND SOS2 [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
ChiTaRS3.1AA824604AFTPHchr2

64812615

-SOS2chr14

50626081

+
* 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-intronENST00000238855ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000238855ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000238855ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000422803ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000422803ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000422803ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000238856ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000238856ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000238856ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409933ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409933ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409933ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409183ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409183ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
5CDS-intronENST00000409183ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+
3UTR-intronENST00000487769ENST00000216373AFTPHchr2

64812615

-SOS2chr14

50626081

+
3UTR-intronENST00000487769ENST00000543680AFTPHchr2

64812615

-SOS2chr14

50626081

+
3UTR-intronENST00000487769ENST00000555794AFTPHchr2

64812615

-SOS2chr14

50626081

+

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FusionProtFeatures for AFTPH_SOS2


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

Q6ULP2

SOS2

Q07890

May play a role in membrane trafficking. Promotes the exchange of Ras-bound GDP by GTP.{ECO:0000250|UniProtKB:Q62245}.

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 AFTPH_SOS2


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 AFTPH_SOS2


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 AFTPH_SOS2


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 AFTPH_SOS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSOS2C4225282NOONAN SYNDROME 91UNIPROT