FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CREB1-FASTKD2 (FusionGDB2 ID:19313)

Fusion Gene Summary for CREB1-FASTKD2

check button Fusion gene summary
Fusion gene informationFusion gene name: CREB1-FASTKD2
Fusion gene ID: 19313
HgeneTgene
Gene symbol

CREB1

FASTKD2

Gene ID

1385

22868

Gene namecAMP responsive element binding protein 1FAST kinase domains 2
SynonymsCREB|CREB-1KIAA0971
Cytomap

2q33.3

2q33.3

Type of geneprotein-codingprotein-coding
Descriptioncyclic AMP-responsive element-binding protein 1active transcription factor CREBcAMP-response element-binding protein-1cyclic adenosine 3',5'-monophosphate response element binding proteincyclic adenosine 3',5'-monophosphate response element-binding prFAST kinase domain-containing protein 2, mitochondrial
Modification date2020031520200313
UniProtAcc.

Q9NYY8

Ensembl transtripts involved in fusion geneENST00000430624, ENST00000432329, 
ENST00000353267, ENST00000536726, 
ENST00000374397, ENST00000539789, 
ENST00000451164, 		ENST00000236980, 
ENST00000402774, ENST00000403094, 
Fusion gene scores* DoF score8 X 5 X 6=2401 X 1 X 1=1
# samples 81
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: CREB1 [Title/Abstract] AND FASTKD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCREB1(208435045)-FASTKD2(207651457), # samples:3
Anticipated loss of major functional domain due to fusion event.CREB1-FASTKD2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
CREB1-FASTKD2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
CREB1-FASTKD2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneCREB1

GO:0006468

protein phosphorylation

8798441

HgeneCREB1

GO:0010033

response to organic substance

8798441

HgeneCREB1

GO:0010944

negative regulation of transcription by competitive promoter binding

19861239

HgeneCREB1

GO:0045944

positive regulation of transcription by RNA polymerase II

1655749|8798441|19861239


check buttonFusion gene breakpoints across CREB1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across FASTKD2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A8-A09Q-01ACREB1chr2

208435045

+FASTKD2chr2

207651457

+
ChimerDB4BRCATCGA-A8-A09Q-01ACREB1chr2

208435045

+FASTKD2chr2

207651457

+
ChimerDB4BRCATCGA-A8-A09Q-01ACREB1chr2

208435045

-FASTKD2chr2

207651457

+


Top

Fusion Gene ORF analysis for CREB1-FASTKD2

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
Frame-shiftENST00000430624ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000430624ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000430624ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000432329ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000432329ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000432329ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000353267ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000353267ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000353267ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000536726ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000536726ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000536726ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000374397ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000374397ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000374397ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000539789ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000539789ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
Frame-shiftENST00000539789ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000451164ENST00000236980CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000451164ENST00000402774CREB1chr2

208435045

+FASTKD2chr2

207651457

+
intron-3CDSENST00000451164ENST00000403094CREB1chr2

208435045

+FASTKD2chr2

207651457

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

Top

Fusion Genomic Features for CREB1-FASTKD2


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
CREB1chr2208435045+FASTKD2chr2207651456+0.0017278110.9982722
CREB1chr2208435045+FASTKD2chr2207651456+0.0017278110.9982722

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

Top

Fusion Protein Features for CREB1-FASTKD2


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.FASTKD2

Q9NYY8

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664, PubMed:25683715, PubMed:26370583). May play a role in mitochondrial apoptosis. {ECO:0000269|PubMed:18771761, ECO:0000269|PubMed:25683715, ECO:0000269|PubMed:26370583, ECO:0000269|PubMed:27667664}.

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

Fusion Gene Sequence for CREB1-FASTKD2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

Top

Fusion Gene PPI Analysis for CREB1-FASTKD2


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

Related Drugs for CREB1-FASTKD2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for CREB1-FASTKD2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCREB1C0011570Mental Depression5PSYGENET
HgeneCREB1C0011581Depressive disorder5PSYGENET
HgeneCREB1C0041696Unipolar Depression5PSYGENET
HgeneCREB1C0525045Mood Disorders5PSYGENET
HgeneCREB1C1269683Major Depressive Disorder5PSYGENET
HgeneCREB1C0600427Cocaine Dependence4CTD_human;PSYGENET
HgeneCREB1C0001973Alcoholic Intoxication, Chronic3PSYGENET
HgeneCREB1C0005586Bipolar Disorder3PSYGENET
HgeneCREB1C0009171Cocaine Abuse3CTD_human
HgeneCREB1C0036341Schizophrenia3PSYGENET
HgeneCREB1C0236736Cocaine-Related Disorders3CTD_human
HgeneCREB1C0026552Morphine Dependence1CTD_human
HgeneCREB1C0027051Myocardial Infarction1CTD_human
HgeneCREB1C0027627Neoplasm Metastasis1CTD_human
HgeneCREB1C0038587Substance Withdrawal Syndrome1CTD_human
HgeneCREB1C0086189Drug Withdrawal Symptoms1CTD_human
HgeneCREB1C0087169Withdrawal Symptoms1CTD_human
HgeneCREB1C0151779Cutaneous Melanoma1CTD_human
HgeneCREB1C0206651Clear Cell Sarcoma of Soft Tissue1ORPHANET
HgeneCREB1C0600272Morphine Abuse1CTD_human
TgeneFASTKD2C0268237Cytochrome-c Oxidase Deficiency2CTD_human;GENOMICS_ENGLAND
TgeneFASTKD2C0751651Mitochondrial Diseases1GENOMICS_ENGLAND
TgeneFASTKD2C4755278FASTKD2-related infantile mitochondrial encephalomyopathy1ORPHANET