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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: 23756

FusionGeneSummary for NCSTN_SREBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: NCSTN_SREBF1
Fusion gene ID: 23756
HgeneTgene
Gene symbol

NCSTN

SREBF1

Gene ID

23385

6720

Gene namenicastrinsterol regulatory element binding transcription factor 1
SynonymsATAG1874SREBP1|bHLHd1
Cytomap

1q23.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionnicastrinanterior pharynx-defective 2sterol regulatory element-binding protein 1class D basic helix-loop-helix protein 1
Modification date2018052320180522
UniProtAcc

Q92542

P36956

Ensembl transtripts involved in fusion geneENST00000294785, ENST00000368063, 
ENST00000535857, ENST00000392212, 
ENST00000459963, ENST00000368065, 
ENST00000338854, ENST00000395757, 
ENST00000355815, ENST00000261646, 
ENST00000435530, ENST00000583732, 
Fusion gene scores* DoF score7 X 7 X 4=1965 X 4 X 4=80
# samples 85
** MAII scorelog2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NCSTN [Title/Abstract] AND SREBF1 [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
HgeneNCSTN

GO:0006509

membrane protein ectodomain proteolysis

15274632

HgeneNCSTN

GO:0016485

protein processing

15274632

HgeneNCSTN

GO:0042982

amyloid precursor protein metabolic process

25043039|26280335

HgeneNCSTN

GO:0043085

positive regulation of catalytic activity

15274632

TgeneSREBF1

GO:0045944

positive regulation of transcription by RNA polymerase II

26437365


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
TCGARVPRADTCGA-HC-7213-01ANCSTNchr1

160328736

+SREBF1chr17

17726944

-
* 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-intronENST00000294785ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000294785ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000294785ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000294785ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000294785ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000294785ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000368063ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000535857ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
5CDS-intronENST00000392212ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000459963ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000338854NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000395757NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000355815NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000261646NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000435530NCSTNchr1

160328736

+SREBF1chr17

17726944

-
intron-intronENST00000368065ENST00000583732NCSTNchr1

160328736

+SREBF1chr17

17726944

-

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FusionProtFeatures for NCSTN_SREBF1


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

Q92542

SREBF1

P36956

Essential subunit of the gamma-secretase complex, anendoprotease complex that catalyzes the intramembrane cleavage ofintegral membrane proteins such as Notch receptors and APP(amyloid-beta precursor protein) (PubMed:10993067,PubMed:12679784, PubMed:25043039, PubMed:26280335). The gamma-secretase complex plays a role in Notch and Wnt signaling cascadesand regulation of downstream processes via its role in processingkey regulatory proteins, and by regulating cytosolic CTNNB1levels. {ECO:0000269|PubMed:10993067, ECO:0000269|PubMed:12679784,ECO:0000269|PubMed:25043039, ECO:0000269|PubMed:26280335}.

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 NCSTN_SREBF1


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 NCSTN_SREBF1


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
NCSTNAPH1A, PSEN1, PSENEN, PSEN2, APP, BACE1, ELAVL1, SPP1, FBXO6, ATP6V1B1, RPS14, THRAP3, RAD50, SRSF11, SEPT7, SEPT2, FTSJ3, USP39, UTP14A, RPS11, RBM25, PRPF6, SRSF10, RRS1, TRA2A, TRIM55, RRP7A, PSIP1, NUMA1, NOP56, TOP1, PHGDH, SURF4, RCC1, TOP2B, PRPF40A, SMARCC2, SRSF1, RFC4, SAP18, NOP58, SUPT16H, U2AF1, NOP16, SLC27A2, RCC2, BCAS2, NOP2, PCDHA2, TPBG, GTF3C1, S100A9, SNRPD2, SSRP1, RPS7, IK, DPF2, SMARCA5, SMARCB1, LMNB1, LAMP2, SART1, TRMT112, WDR18, RSL1D1, SMU1, ZC3H18, HNRNPU, RAB31, MYBBP1A, SAFB, TMEM14B, HNRNPR, APH1B, ERLIN2, GSAP, LGALS3, HNRNPF, KHDRBS1, NTRK1, EWSR1, ALDOA, SLC25A5, ATP1A1, ATP2A2, ATP5A1, BSG, NDUFB5, SLC2A1, SLC7A5, SLC25A12, TRIP13, TTI1, TOMM20, SCAMP3, RPP38, SPTLC1, EBP, YIF1A, MAGED2, PRSS21, IMMT, ELL2, PNKD, TCTN3, CRNKL1, TRMT6, ESYT2, SQRDL, SRPRB, FASTKD5, FAM111A, MMS19, WLS, CLPTM1L, MAGT1, C19orf52, SFXN1, ACTA1, ALOX5, MICAL1, RRAS, SRC, PAG1, EEF1A2, EEPD1, PTPRG, VASN, AHNAK2, EPHA2, YES1, RAP2A, NCAM1SREBF1LMNA, TWIST2, UBE2I, CREBBP, YY1, SP1, NR0B1, MAPK3, MAPK1, FBXW7, KLF13, EP300, AR, MED15, MED23, MED7, MED13, MED12, MED1, MED14, MED24, MED26, MED6, HNF4A, TRRAP, KAT2A, ATM, GCN1L1, TADA2B, TADA3, RUVBL2, SIRT1, MED25, MED17, MED21, CDK8, USF1, GSK3B, ZBTB7C, SREBF2, SREBF1, ZBTB7A, SCAP, INSIG1, INSIG2, EGF, ATXN1, ATXN1L, HSP90AA1, SMARCD3, ERLIN2, KLF5, ID2, ID3, PRMT5, PVALB, SORL1, MTNR1B, PLK1, TRIM25, POLR2A


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 NCSTN_SREBF1


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 NCSTN_SREBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNCSTNC1840560Hidradenitis suppurativa, familial2CTD_human;UNIPROT
HgeneNCSTNC0002395Alzheimer's Disease1CTD_human
TgeneSREBF1C0011853Diabetes Mellitus, Experimental2CTD_human
TgeneSREBF1C0400966Non-alcoholic Fatty Liver Disease2CTD_human
TgeneSREBF1C2239176Liver carcinoma2CTD_human
TgeneSREBF1C0015695Fatty Liver1CTD_human
TgeneSREBF1C0021655Insulin Resistance1CTD_human
TgeneSREBF1C0022661Kidney Failure, Chronic1CTD_human
TgeneSREBF1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSREBF1C0028754Obesity1CTD_human
TgeneSREBF1C0036341Schizophrenia1PSYGENET