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:MAD1L1-PRKAR1B (FusionGDB2 ID:50427)

Fusion Gene Summary for MAD1L1-PRKAR1B

check button Fusion gene summary
Fusion gene informationFusion gene name: MAD1L1-PRKAR1B
Fusion gene ID: 50427
HgeneTgene
Gene symbol

MAD1L1

PRKAR1B

Gene ID

8379

5575

Gene namemitotic arrest deficient 1 like 1protein kinase cAMP-dependent type I regulatory subunit beta
SynonymsMAD1|PIG9|TP53I9|TXBP181PRKAR1
Cytomap

7p22.3

7p22.3

Type of geneprotein-codingprotein-coding
Descriptionmitotic spindle assembly checkpoint protein MAD1MAD1 mitotic arrest deficient like 1MAD1-like protein 1mitotic arrest deficient 1-like protein 1mitotic checkpoint MAD1 protein homologmitotic-arrest deficient 1, yeast, homolog-like 1tax-binding protecAMP-dependent protein kinase type I-beta regulatory subunitprotein kinase, cAMP-dependent, regulatory subunit type I betaprotein kinase, cAMP-dependent, regulatory, type I, beta
Modification date2020031320200327
UniProtAcc

Q9Y6D9

.
Ensembl transtripts involved in fusion geneENST00000402746, ENST00000399654, 
ENST00000406869, ENST00000265854, 
ENST00000486340, 		ENST00000544935, 
ENST00000537384, ENST00000406797, 
ENST00000403562, ENST00000360274, 
ENST00000488474, 
Fusion gene scores* DoF score12 X 13 X 8=124814 X 10 X 8=1120
# samples 1515
** MAII scorelog2(15/1248*10)=-3.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1120*10)=-2.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAD1L1 [Title/Abstract] AND PRKAR1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMAD1L1(2108828)-PRKAR1B(591107), # samples:1
PRKAR1B(645830)-MAD1L1(2020176), # samples:1
Anticipated loss of major functional domain due to fusion event.MAD1L1-PRKAR1B seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
MAD1L1-PRKAR1B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
MAD1L1-PRKAR1B seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
MAD1L1-PRKAR1B seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PRKAR1B-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PRKAR1B-MAD1L1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PRKAR1B-MAD1L1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PRKAR1B-MAD1L1 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
HgeneMAD1L1

GO:0007094

mitotic spindle assembly checkpoint

18981471

HgeneMAD1L1

GO:0090235

regulation of metaphase plate congression

20133940

TgenePRKAR1B

GO:2000480

negative regulation of cAMP-dependent protein kinase activity

21812984


check buttonFusion gene breakpoints across MAD1L1 (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 PRKAR1B (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
ChimerDB4ESCATCGA-2H-A9GGMAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-


Top

Fusion Gene ORF analysis for MAD1L1-PRKAR1B

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-shiftENST00000402746ENST00000544935MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000402746ENST00000537384MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000402746ENST00000406797MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000402746ENST00000403562MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000402746ENST00000360274MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
5CDS-intronENST00000402746ENST00000488474MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000399654ENST00000544935MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000399654ENST00000537384MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000399654ENST00000406797MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000399654ENST00000403562MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000399654ENST00000360274MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
5CDS-intronENST00000399654ENST00000488474MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000406869ENST00000544935MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000406869ENST00000537384MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000406869ENST00000406797MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000406869ENST00000403562MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000406869ENST00000360274MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
5CDS-intronENST00000406869ENST00000488474MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000265854ENST00000544935MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000265854ENST00000537384MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000265854ENST00000406797MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000265854ENST00000403562MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
Frame-shiftENST00000265854ENST00000360274MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
5CDS-intronENST00000265854ENST00000488474MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-3CDSENST00000486340ENST00000544935MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-3CDSENST00000486340ENST00000537384MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-3CDSENST00000486340ENST00000406797MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-3CDSENST00000486340ENST00000403562MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-3CDSENST00000486340ENST00000360274MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-
intron-intronENST00000486340ENST00000488474MAD1L1chr7

2108828

-PRKAR1Bchr7

591107

-

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 MAD1L1-PRKAR1B


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)

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 MAD1L1-PRKAR1B


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
MAD1L1

Q9Y6D9

.
FUNCTION: Component of the spindle-assembly checkpoint that prevents the onset of anaphase until all chromosomes are properly aligned at the metaphase plate (PubMed:10049595, PubMed:20133940, PubMed:29162720). Forms a heterotetrameric complex with the closed conformation form of MAD2L1 (C-MAD2) at unattached kinetochores during prometaphase, recruits an open conformation of MAD2L1 (O-MAD2) and promotes the conversion of O-MAD2 to C-MAD2, which ensures mitotic checkpoint signaling (PubMed:29162720). {ECO:0000269|PubMed:10049595, ECO:0000269|PubMed:20133940, ECO:0000269|PubMed:29162720}.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.

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 MAD1L1-PRKAR1B


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 MAD1L1-PRKAR1B


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 MAD1L1-PRKAR1B


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 MAD1L1-PRKAR1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAD1L1C0036341Schizophrenia1PSYGENET
HgeneMAD1L1C0087031Juvenile-Onset Still Disease1CTD_human
HgeneMAD1L1C1336708Testicular Germ Cell Tumor1CTD_human
HgeneMAD1L1C2931456Prostate cancer, familial1CTD_human
HgeneMAD1L1C3495559Juvenile arthritis1CTD_human
HgeneMAD1L1C3714758Juvenile psoriatic arthritis1CTD_human
HgeneMAD1L1C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
HgeneMAD1L1C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
HgeneMAD1L1C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human
TgenePRKAR1BC4751505PRKAR1B-related neurodegenerative dementia with intermediate filaments2ORPHANET