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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: 2279

FusionGeneSummary for APTX_SLC50A1

check button Fusion gene summary
Fusion gene informationFusion gene name: APTX_SLC50A1
Fusion gene ID: 2279
HgeneTgene
Gene symbol

APTX

SLC50A1

Gene ID

54840

55974

Gene nameaprataxinsolute carrier family 50 member 1
SynonymsAOA|AOA1|AXA1|EAOH|EOAHA|FHA-HITHsSWEET1|RAG1AP1|SCP|SWEET1|slv
Cytomap

9p21.1

1q22

Type of geneprotein-codingprotein-coding
Descriptionaprataxinforkhead-associated domain histidine triad-like proteinsugar transporter SWEET1RAG1-activating protein 1RP11-540D14.5RZPDo834D038Dprobable sugar transporter RAG1AP1recombination activating gene 1 activating protein 1solute carrier family 50 (sugar efflux transporter), member 1solute carrier family 50 (
Modification date2018052320180523
UniProtAcc

Q7Z2E3

Q9BRV3

Ensembl transtripts involved in fusion geneENST00000379825, ENST00000309615, 
ENST00000397172, ENST00000379817, 
ENST00000436040, ENST00000379819, 
ENST00000468275, ENST00000463596, 
ENST00000476858, ENST00000379813, 
ENST00000473270, 
ENST00000484157, 
ENST00000303343, ENST00000368404, 
ENST00000368401, ENST00000368405, 
Fusion gene scores* DoF score6 X 4 X 5=1203 X 3 X 4=36
# samples 64
** MAII scorelog2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: APTX [Title/Abstract] AND SLC50A1 [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
HgeneAPTX

GO:0000012

single strand break repair

17519253

HgeneAPTX

GO:0042542

response to hydrogen peroxide

15044383


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
ChiTaRS3.1AW630763APTXchr9

32975657

-SLC50A1chr1

155111221

+
* 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-intronENST00000379825ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379825ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379825ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379825ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379825ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000309615ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000309615ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000309615ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000309615ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000309615ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000397172ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000397172ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000397172ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000397172ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000397172ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000379817ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379817ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379817ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379817ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379817ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000436040ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000436040ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000436040ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000436040ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000436040ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000379819ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379819ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379819ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379819ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379819ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000468275ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000468275ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000468275ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000468275ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000468275ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000463596ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000463596ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000463596ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000463596ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000463596ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000476858ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000476858ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000476858ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000476858ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000476858ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000379813ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379813ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379813ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379813ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000379813ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-intronENST00000473270ENST00000484157APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000473270ENST00000303343APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000473270ENST00000368404APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000473270ENST00000368401APTXchr9

32975657

-SLC50A1chr1

155111221

+
intron-3UTRENST00000473270ENST00000368405APTXchr9

32975657

-SLC50A1chr1

155111221

+

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FusionProtFeatures for APTX_SLC50A1


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

Q7Z2E3

SLC50A1

Q9BRV3

Mediates sugar transport across membranes. May stimulateV(D)J recombination by the activation of RAG1.{ECO:0000269|PubMed:21107422}.

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 APTX_SLC50A1


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 APTX_SLC50A1


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


Top

RelatedDrugs for APTX_SLC50A1


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 APTX_SLC50A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPTXC1859598ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA5CTD_human;ORPHANET;UNIPROT