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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: 33029

FusionGeneSummary for SEC23A_NR6A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SEC23A_NR6A1
Fusion gene ID: 33029
HgeneTgene
Gene symbol

SEC23A

NR6A1

Gene ID

10484

2649

Gene nameSec23 homolog A, coat complex II componentnuclear receptor subfamily 6 group A member 1
SynonymsCLSD|hSec23ACT150|GCNF|GCNF1|NR61|RTR|hGCNF|hRTR
Cytomap

14q21.1

9q33.3

Type of geneprotein-codingprotein-coding
Descriptionprotein transport protein Sec23ASEC23-related protein ASec23 homolog A, COPII coat complex componentnuclear receptor subfamily 6 group A member 1germ cell nuclear factor variant 1retinoic acid receptor-related testis-associated receptorretinoid receptor-related testis-specific receptor
Modification date2018052320180523
UniProtAcc

Q15436

Q15406

Ensembl transtripts involved in fusion geneENST00000537403, ENST00000307712, 
ENST00000536508, ENST00000545328, 
ENST00000553925, ENST00000548032, 
ENST00000557280, ENST00000553970, 
ENST00000487099, ENST00000373584, 
ENST00000416460, ENST00000344523, 
Fusion gene scores* DoF score8 X 9 X 3=2166 X 5 X 4=120
# samples 96
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SEC23A [Title/Abstract] AND NR6A1 [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
HgeneSEC23A

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


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
ChiTaRS3.1BE072523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
* 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-intronENST00000537403ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000537403ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000537403ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000537403ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000307712ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000307712ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000307712ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000307712ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000536508ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000536508ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000536508ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000536508ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000545328ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000545328ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000545328ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000545328ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553925ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553925ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553925ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553925ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000548032ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000548032ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000548032ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000548032ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000557280ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000557280ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000557280ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000557280ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553970ENST00000487099SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553970ENST00000373584SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553970ENST00000416460SEC23Achr14

39561435

+NR6A1chr9

127366382

+
intron-intronENST00000553970ENST00000344523SEC23Achr14

39561435

+NR6A1chr9

127366382

+

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FusionProtFeatures for SEC23A_NR6A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEC23A

Q15436

NR6A1

Q15406

Component of the coat protein complex II (COPII) whichpromotes the formation of transport vesicles from the endoplasmicreticulum (ER). The coat has two main functions, the physicaldeformation of the endoplasmic reticulum membrane into vesiclesand the selection of cargo molecules for their transport to theGolgi complex. {ECO:0000269|PubMed:16980979,ECO:0000269|PubMed:17499046, ECO:0000269|PubMed:18843296,ECO:0000269|PubMed:27551091, ECO:0000269|PubMed:8898360}. Orphan nuclear receptor. Binds to a response elementcontaining the sequence 5'-TCAAGGTCA-3'. May be involved in theregulation of gene expression in germ cell development duringgametogenesis (By similarity). {ECO:0000250}.

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 SEC23A_NR6A1


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 SEC23A_NR6A1


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 SEC23A_NR6A1


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 SEC23A_NR6A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSEC23AC0029408Degenerative polyarthritis1CTD_human
HgeneSEC23AC1843042Craniolenticulosutural Dysplasia1CTD_human;ORPHANET;UNIPROT