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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: 30989

FusionGeneSummary for REST_UFD1L

check button Fusion gene summary
Fusion gene informationFusion gene name: REST_UFD1L
Fusion gene ID: 30989
HgeneTgene
Gene symbol

REST

UFD1L

Gene ID

5978

Gene nameRE1 silencing transcription factor
SynonymsGINGF5|HGF5|NRSF|WT6|XBR
Cytomap

4q12

Type of geneprotein-coding
DescriptionRE1-silencing transcription factorneural-restrictive silencer factorneuron restrictive silencer factorrepressor binding to the X2 box
Modification date20180523
UniProtAcc

Q13127

Ensembl transtripts involved in fusion geneENST00000309042, ENST00000514063, 
ENST00000263202, ENST00000360834, 
ENST00000399523, ENST00000484101, 
Fusion gene scores* DoF score4 X 4 X 1=162 X 2 X 2=8
# samples 42
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/8*10)=1.32192809488736
Context

PubMed: REST [Title/Abstract] AND UFD1L [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
HgeneREST

GO:0000122

negative regulation of transcription by RNA polymerase II

8568247|21284946

HgeneREST

GO:0043922

negative regulation by host of viral transcription

17555596

HgeneREST

GO:0045892

negative regulation of transcription, DNA-templated

7697725|10449787|10734093|17984088|19342457

HgeneREST

GO:0045893

positive regulation of transcription, DNA-templated

17984088

HgeneREST

GO:0070933

histone H4 deacetylation

17555596

HgeneREST

GO:0071385

cellular response to glucocorticoid stimulus

17984088


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
ChiTaRS3.1BE813696RESTchr4

57796393

+UFD1Lchr22

19450787

-
* 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-intronENST00000309042ENST00000263202RESTchr4

57796393

+UFD1Lchr22

19450787

-
5CDS-intronENST00000309042ENST00000360834RESTchr4

57796393

+UFD1Lchr22

19450787

-
5CDS-intronENST00000309042ENST00000399523RESTchr4

57796393

+UFD1Lchr22

19450787

-
5CDS-intronENST00000309042ENST00000484101RESTchr4

57796393

+UFD1Lchr22

19450787

-
intron-intronENST00000514063ENST00000263202RESTchr4

57796393

+UFD1Lchr22

19450787

-
intron-intronENST00000514063ENST00000360834RESTchr4

57796393

+UFD1Lchr22

19450787

-
intron-intronENST00000514063ENST00000399523RESTchr4

57796393

+UFD1Lchr22

19450787

-
intron-intronENST00000514063ENST00000484101RESTchr4

57796393

+UFD1Lchr22

19450787

-

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FusionProtFeatures for REST_UFD1L


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

Q13127

UFD1L

Transcriptional repressor which binds neuron-restrictivesilencer element (NRSE) and represses neuronal gene transcriptionin non-neuronal cells. Restricts the expression of neuronal genesby associating with two distinct corepressors, mSin3 and CoREST,which in turn recruit histone deacetylase to the promoters ofREST-regulated genes. Mediates repression by recruiting the BHCcomplex at RE1/NRSE sites which acts by deacetylating anddemethylating specific sites on histones, thereby acting as achromatin modifier. Transcriptional repression by REST-CDYL viathe recruitment of histone methyltransferase EHMT2 may beimportant in transformation suppression.{ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:19061646,ECO:0000269|PubMed:26551668, ECO:0000269|PubMed:7697725,ECO:0000269|PubMed:7871435, ECO:0000269|PubMed:8568247}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 REST_UFD1L


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 REST_UFD1L


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 REST_UFD1L


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 REST_UFD1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRESTC0015923Fetal Alcohol Syndrome1PSYGENET
HgeneRESTC0027708Nephroblastoma1CTD_human;HPO;ORPHANET
HgeneRESTC0036341Schizophrenia1PSYGENET
HgeneRESTC0036572Seizures1CTD_human
HgeneRESTC1269683Major Depressive Disorder1PSYGENET
HgeneRESTC3891301WILMS TUMOR, SUSCEPTIBILITY TO1UNIPROT