FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12486

FusionGeneSummary for FAM114A1_QSOX1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAM114A1_QSOX1
Fusion gene ID: 12486
HgeneTgene
Gene symbol

FAM114A1

QSOX1

Gene ID

92689

5768

Gene namefamily with sequence similarity 114 member A1quiescin sulfhydryl oxidase 1
SynonymsNoxp20Q6|QSCN6
Cytomap

4p14

1q25.2

Type of geneprotein-codingprotein-coding
Descriptionprotein NOXP20nervous system over-expressed protein 20sulfhydryl oxidase 1quiescin Q6 sulfhydryl oxidase 1testis tissue sperm-binding protein Li 62nthiol oxidase 1
Modification date2018051920180523
UniProtAcc

Q8IWE2

O00391

Ensembl transtripts involved in fusion geneENST00000515037, ENST00000358869, 
ENST00000513966, 
ENST00000367602, 
ENST00000367600, 
Fusion gene scores* DoF score8 X 7 X 6=3365 X 6 X 2=60
# samples 86
** MAII scorelog2(8/336*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: FAM114A1 [Title/Abstract] AND QSOX1 [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
ChiTaRS3.1BF996657FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
* 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-intronENST00000515037ENST00000367602FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
intron-intronENST00000515037ENST00000367600FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
5UTR-intronENST00000358869ENST00000367602FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
5UTR-intronENST00000358869ENST00000367600FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
intron-intronENST00000513966ENST00000367602FAM114A1chr4

38870162

+QSOX1chr1

180139210

-
intron-intronENST00000513966ENST00000367600FAM114A1chr4

38870162

+QSOX1chr1

180139210

-

Top

FusionProtFeatures for FAM114A1_QSOX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAM114A1

Q8IWE2

QSOX1

O00391

May play a role in neuronal cell development.{ECO:0000250}. Catalyzes the oxidation of sulfhydryl groups in peptideand protein thiols to disulfides with the reduction of oxygen tohydrogen peroxide. May contribute to disulfide bond formation in avariety of secreted proteins. In fibroblasts, it may have tumor-suppressing capabilities being involved in growth regulation.{ECO:0000269|PubMed:10542195, ECO:0000269|PubMed:10708601,ECO:0000269|PubMed:12176051, ECO:0000269|PubMed:16806532,ECO:0000269|PubMed:17331072, ECO:0000269|PubMed:18393449}.

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


Top

FusionGeneSequence for FAM114A1_QSOX1


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).

Top

FusionGenePPI for FAM114A1_QSOX1


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 FAM114A1_QSOX1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for FAM114A1_QSOX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneQSOX1C0236969Substance-Related Disorders1CTD_human