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: 30255

FusionGeneSummary for RAI1_SREBF1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAI1_SREBF1
Fusion gene ID: 30255
HgeneTgene
Gene symbol

RAI1

SREBF1

Gene ID

10743

6720

Gene nameretinoic acid induced 1sterol regulatory element binding transcription factor 1
SynonymsSMCR|SMSSREBP1|bHLHd1
Cytomap

17p11.2

17p11.2

Type of geneprotein-codingprotein-coding
Descriptionretinoic acid-induced protein 1Smith-Magenis syndrome chromosome regionsterol regulatory element-binding protein 1class D basic helix-loop-helix protein 1
Modification date2018052320180522
UniProtAcc

Q7Z5J4

P36956

Ensembl transtripts involved in fusion geneENST00000353383, ENST00000489697, 
ENST00000261641, 
ENST00000338854, 
ENST00000395757, ENST00000355815, 
ENST00000261646, ENST00000435530, 
ENST00000583732, 
Fusion gene scores* DoF score17 X 9 X 11=16835 X 4 X 4=80
# samples 185
** MAII scorelog2(18/1683*10)=-3.22496636500027
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: RAI1 [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
HgeneRAI1

GO:0045893

positive regulation of transcription, DNA-templated

22578325

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
ChiTaRS3.1BM975798RAI1chr17

17721040

+SREBF1chr17

17720412

+
* 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-3CDSENST00000353383ENST00000338854RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000353383ENST00000395757RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000353383ENST00000355815RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000353383ENST00000261646RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000353383ENST00000435530RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000353383ENST00000583732RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000489697ENST00000338854RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000489697ENST00000395757RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000489697ENST00000355815RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000489697ENST00000261646RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000489697ENST00000435530RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000489697ENST00000583732RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000261641ENST00000338854RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000261641ENST00000395757RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000261641ENST00000355815RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-3CDSENST00000261641ENST00000261646RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000261641ENST00000435530RAI1chr17

17721040

+SREBF1chr17

17720412

+
intron-intronENST00000261641ENST00000583732RAI1chr17

17721040

+SREBF1chr17

17720412

+

Top

FusionProtFeatures for RAI1_SREBF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAI1

Q7Z5J4

SREBF1

P36956

Transcriptional regulator of the circadian clockcomponents: CLOCK, ARNTL/BMAL1, ARNTL2/BMAL2, PER1/3, CRY1/2,NR1D1/2 and RORA/C. Positively regulates the transcriptionalactivity of CLOCK a core component of the circadian clock.Regulates transcription through chromatin remodeling byinteracting with other proteins in chromatin as well as proteinsin the basic transcriptional machinery. May be important forembryonic and postnatal development. May be involved in neuronaldifferentiation. {ECO:0000269|PubMed:22578325}.

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 RAI1_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).

Top

FusionGenePPI for RAI1_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


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 RAI1_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

Top

RelatedDiseases for RAI1_SREBF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAI1C0795864Smith-Magenis syndrome12CTD_human;ORPHANET
HgeneRAI1C0028754Obesity2CTD_human;HPO
HgeneRAI1C0003469Anxiety Disorders1CTD_human
HgeneRAI1C0018273Growth Disorders1CTD_human
HgeneRAI1C0025202melanoma1CTD_human
HgeneRAI1C0036341Schizophrenia1PSYGENET
HgeneRAI1C0376634Craniofacial Abnormalities1CTD_human
HgeneRAI1C0525041Neurobehavioral Manifestations1CTD_human
HgeneRAI1C0700201Dyssomnias1CTD_human
HgeneRAI1C1510586Autism Spectrum Disorders1CTD_human
HgeneRAI1C1970482Potocki-Lupski syndrome1CTD_human
HgeneRAI1C3714756Intellectual Disability1CTD_human;HPO
HgeneRAI1C3887612Psychomotor Agitation1CTD_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