Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
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:APPL2-NR0B1 (FusionGDB2 ID:HG55198TG190)

Fusion Gene Summary for APPL2-NR0B1

check button Fusion gene summary
Fusion gene informationFusion gene name: APPL2-NR0B1
Fusion gene ID: hg55198tg190
HgeneTgene
Gene symbol

APPL2

NR0B1

Gene ID

55198

190

Gene nameadaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2nuclear receptor subfamily 0 group B member 1
SynonymsDIP13BAHC|AHCH|AHX|DAX-1|DAX1|DSS|GTD|HHG|NROB1|SRXY2
Cytomap('APPL2')('NR0B1')

12q23.3

Xp21.2

Type of geneprotein-codingprotein-coding
DescriptionDCC-interacting protein 13-betaDIP13 betaadapter protein containing PH domain, PTB domain and leucine zipper motif 2adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2nuclear receptor subfamily 0 group B member 1DSS-AHC critical region on the X chromosome protein 1nuclear hormone receptornuclear receptor DAX-1truncated nuclear receptor subfamily 0 group B member 1
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000258530, ENST00000539978, 
ENST00000551662, ENST00000549573, 
ENST00000546731, 
Fusion gene scores* DoF score9 X 10 X 5=4502 X 1 X 2=4
# samples 103
** MAII scorelog2(10/450*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/4*10)=2.90689059560852
Context

PubMed: APPL2 [Title/Abstract] AND NR0B1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPPL2(105597481)-NR0B1(30322940), # samples:1
Anticipated loss of major functional domain due to fusion event.APPL2-NR0B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL2-NR0B1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL2-NR0B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
APPL2-NR0B1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneAPPL2

GO:0006606

protein import into nucleus

26583432

HgeneAPPL2

GO:0051289

protein homotetramerization

23055524

HgeneAPPL2

GO:2000045

regulation of G1/S transition of mitotic cell cycle

15016378

TgeneNR0B1

GO:0006694

steroid biosynthetic process

9384387

TgeneNR0B1

GO:0008104

protein localization

11875111

TgeneNR0B1

GO:0033144

negative regulation of intracellular steroid hormone receptor signaling pathway

11875111

TgeneNR0B1

GO:0045892

negative regulation of transcription, DNA-templated

7990953|9384387


check buttonFusion gene breakpoints across APPL2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across NR0B1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4UCECTCGA-AJ-A3BD-01AAPPL2chr12

105597481

-NR0B1chrX

30322940

-


Top

Fusion Gene ORF analysis for APPL2-NR0B1

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-intronENST00000258530ENST00000378963APPL2chr12

105597481

-NR0B1chrX

30322940

-
5CDS-intronENST00000258530ENST00000453287APPL2chr12

105597481

-NR0B1chrX

30322940

-
5CDS-intronENST00000539978ENST00000378963APPL2chr12

105597481

-NR0B1chrX

30322940

-
5CDS-intronENST00000539978ENST00000453287APPL2chr12

105597481

-NR0B1chrX

30322940

-
5CDS-intronENST00000551662ENST00000378963APPL2chr12

105597481

-NR0B1chrX

30322940

-
5CDS-intronENST00000551662ENST00000453287APPL2chr12

105597481

-NR0B1chrX

30322940

-
5UTR-3CDSENST00000549573ENST00000378970APPL2chr12

105597481

-NR0B1chrX

30322940

-
5UTR-intronENST00000549573ENST00000378963APPL2chr12

105597481

-NR0B1chrX

30322940

-
5UTR-intronENST00000549573ENST00000453287APPL2chr12

105597481

-NR0B1chrX

30322940

-
In-frameENST00000258530ENST00000378970APPL2chr12

105597481

-NR0B1chrX

30322940

-
In-frameENST00000539978ENST00000378970APPL2chr12

105597481

-NR0B1chrX

30322940

-
In-frameENST00000551662ENST00000378970APPL2chr12

105597481

-NR0B1chrX

30322940

-
intron-3CDSENST00000546731ENST00000378970APPL2chr12

105597481

-NR0B1chrX

30322940

-
intron-intronENST00000546731ENST00000378963APPL2chr12

105597481

-NR0B1chrX

30322940

-
intron-intronENST00000546731ENST00000453287APPL2chr12

105597481

-NR0B1chrX

30322940

-

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)
ENST00000258530APPL2chr12105597481-ENST00000378970NR0B1chrX30322940-154893079999306
ENST00000539978APPL2chr12105597481-ENST00000378970NR0B1chrX30322940-162810102191079286
ENST00000551662APPL2chr12105597481-ENST00000378970NR0B1chrX30322940-141179323862279

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
ENST00000258530ENST00000378970APPL2chr12105597481-NR0B1chrX30322940-0.0004817710.9995183
ENST00000539978ENST00000378970APPL2chr12105597481-NR0B1chrX30322940-0.001172030.998828
ENST00000551662ENST00000378970APPL2chr12105597481-NR0B1chrX30322940-0.0007477380.99925226

Top

Fusion Genomic Features for APPL2-NR0B1


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.
genomic feature

Top

Fusion Protein Features for APPL2-NR0B1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr12:105597481/chrX:30322940)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneNR0B1chr12:105597481chrX:30322940ENST0000045328702205_4690401.0DomainNR LBD
TgeneNR0B1chr12:105597481chrX:30322940ENST0000037897002461_466389471.0MotifNote=AF-2 motif
TgeneNR0B1chr12:105597481chrX:30322940ENST000004532870213_170401.0MotifNote=LXXLL motif 1
TgeneNR0B1chr12:105597481chrX:30322940ENST0000045328702146_1500401.0MotifNote=LXXLL motif 3
TgeneNR0B1chr12:105597481chrX:30322940ENST0000045328702461_4660401.0MotifNote=AF-2 motif
TgeneNR0B1chr12:105597481chrX:30322940ENST000004532870280_840401.0MotifNote=LXXLL motif 2
TgeneNR0B1chr12:105597481chrX:30322940ENST00000453287021_2530401.0RegionNote=4 X 67 AA tandem repeats
TgeneNR0B1chr12:105597481chrX:30322940ENST0000045328702134_2000401.0RepeatNote=3
TgeneNR0B1chr12:105597481chrX:30322940ENST00000453287021_670401.0RepeatNote=1
TgeneNR0B1chr12:105597481chrX:30322940ENST0000045328702201_2530401.0RepeatNote=4%3B truncated
TgeneNR0B1chr12:105597481chrX:30322940ENST000004532870268_1330401.0RepeatNote=2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneAPPL2chr12:105597481chrX:30322940ENST00000258530-921277_375234665.0DomainPH
HgeneAPPL2chr12:105597481chrX:30322940ENST00000258530-9213_268234665.0DomainBAR
HgeneAPPL2chr12:105597481chrX:30322940ENST00000258530-921488_637234665.0DomainPID
HgeneAPPL2chr12:105597481chrX:30322940ENST00000539978-921277_375191622.0DomainPH
HgeneAPPL2chr12:105597481chrX:30322940ENST00000539978-9213_268191622.0DomainBAR
HgeneAPPL2chr12:105597481chrX:30322940ENST00000539978-921488_637191622.0DomainPID
HgeneAPPL2chr12:105597481chrX:30322940ENST00000551662-921277_375240671.0DomainPH
HgeneAPPL2chr12:105597481chrX:30322940ENST00000551662-9213_268240671.0DomainBAR
HgeneAPPL2chr12:105597481chrX:30322940ENST00000551662-921488_637240671.0DomainPID
HgeneAPPL2chr12:105597481chrX:30322940ENST00000258530-9211_428234665.0RegionRequired for RAB5A binding
HgeneAPPL2chr12:105597481chrX:30322940ENST00000539978-9211_428191622.0RegionRequired for RAB5A binding
HgeneAPPL2chr12:105597481chrX:30322940ENST00000551662-9211_428240671.0RegionRequired for RAB5A binding
TgeneNR0B1chr12:105597481chrX:30322940ENST0000037897002205_469389471.0DomainNR LBD
TgeneNR0B1chr12:105597481chrX:30322940ENST000003789700213_17389471.0MotifNote=LXXLL motif 1
TgeneNR0B1chr12:105597481chrX:30322940ENST0000037897002146_150389471.0MotifNote=LXXLL motif 3
TgeneNR0B1chr12:105597481chrX:30322940ENST000003789700280_84389471.0MotifNote=LXXLL motif 2
TgeneNR0B1chr12:105597481chrX:30322940ENST00000378970021_253389471.0RegionNote=4 X 67 AA tandem repeats
TgeneNR0B1chr12:105597481chrX:30322940ENST0000037897002134_200389471.0RepeatNote=3
TgeneNR0B1chr12:105597481chrX:30322940ENST00000378970021_67389471.0RepeatNote=1
TgeneNR0B1chr12:105597481chrX:30322940ENST0000037897002201_253389471.0RepeatNote=4%3B truncated
TgeneNR0B1chr12:105597481chrX:30322940ENST000003789700268_133389471.0RepeatNote=2


Top

Fusion Gene Sequence for APPL2-NR0B1


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.
>5690_5690_1_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000258530_NR0B1_chrX_30322940_ENST00000378970_length(transcript)=1548nt_BP=930nt
TTTCCCTGCCGGGCGCGCCACACTTCCTGTTGATCCGGCTCGGCCGGGGGCTGGGCCGGCGGGCAGGCGGCGGCGGCCACTGGCCAGGCG
TGGACGCGCGCGGGGCCGCCGCGGGCACGGAGTGGCCGCCGCGTCGCCTGAGCCCAGAGCCGGGGAGTGCTCTCGGCCGCCGCGTCTCCT
GCCCTCTGTCCTTCCAACCCAGCCCTCGGCTGAGCCGCGCCGCACCATGCCCGCCGTGGACAAGCTCCTGCTAGAGGAGGCGTTGCAGGA
CAGCCCCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCA
GCGCGTCTATGGAGCCCAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGAACTTTGCTCT
TGGCAAAGGTGATGAAGAAGTAATTTCAACACTCCACTATTTTTCCAAAGTGGTGGATGAGCTTAATCTTCTCCATACAGAGCTGGCTAA
ACAGTTGGCAGACACAATGGTTCTACCTATCATACAATTCCGAGAAAAGGATCTCACAGAAGTAAGCACTTTAAAGGATCTATTTGGACT
CGCTAGCAATGAGCATGACCTCTCAATGGCAAAATACAGCAGGCTGCCTAAGAAAAAGGAGAATGAGAAGGTGAAGACCGAAGTCGGAAA
AGAGGTGGCCGCGGCCCGGCGGAAGCAGCACCTCTCCTCCCTTCAGTACTACTGTGCCCTCAACGCGCTGCAGTACAGAAAGCAAATGGC
CATGATGGAGCCCATGATAGGCTTTGCCCATGGACAGATTAACTTTTTTAAGAAGGGAGCAGAGATGTTTTCCAAACGTATGGACAGCTT
TTTATCCTCCGTTGCAGACATGGTTCAAAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAA
TACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCA
ATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGA
TATAAAGTCATGTGGGCCACACAAGTGCAGTAGTGCAGTTCACCATGAGGGAAGAATAAAGAGCTGTGGGCAAAAGAGTGTAAAATATTT
TAAAATAAACTTTCTTAATATTTTTACATGCAGAGTATTTTTGTATTCAATTAAAGAAATAATTTTATTCCAGACAGTCACAAATTTCTC
TGTTCCATAGTTAAAGAAGACATTTGCCAACAGGTAGCATAGCTCTGTACATCTTTTAAAAAAAAAATAGCAGGGTACTAGTATAATAAG
CTATTTTCACAAGTGTAGCAATTTCATGGAACCTGCTCAAATCAAATTTGTACATATTGTTATAATAAATTTTAAGGTCTTAACTATTAA

>5690_5690_1_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000258530_NR0B1_chrX_30322940_ENST00000378970_length(amino acids)=306AA_BP=283
MARRGRARGRRGHGVAAASPEPRAGECSRPPRLLPSVLPTQPSAEPRRTMPAVDKLLLEEALQDSPQTRSLLSVFEEDAGTLTDYTNQLL
QAMQRVYGAQNEMCLATQQLSKQLLAYEKQNFALGKGDEEVISTLHYFSKVVDELNLLHTELAKQLADTMVLPIIQFREKDLTEVSTLKD
LFGLASNEHDLSMAKYSRLPKKKENEKVKTEVGKEVAAARRKQHLSSLQYYCALNALQYRKQMAMMEPMIGFAHGQINFFKKGAEMFSKR

--------------------------------------------------------------
>5690_5690_2_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000539978_NR0B1_chrX_30322940_ENST00000378970_length(transcript)=1628nt_BP=1010nt
TCTATTCATGGACTCCTTTTTAGTTTGCAGTGCTGCACGATGCATTGTAAAACTAGTCTGTGTGCATACACATGCGTTATTTCTGCTTAC
CTCTCATATGTGGGAAGCTGAACATTTTAGGGATTAAGAAATCTGCCTCCATTGTTGTTTAGAAGCCTCTGCTCCTTGCCTGGCACTACT
GGCTGTTGGGAATGTGAAGATAAATAAGAGTGACTACCCTTGACTGGTTCACAGTTTGTTCCAGAGACAGATAATGAGGCAACAGTTCCA
GTACAGTGTGAATCCTGCTGCGATAGGAACACAAATGCAGCTTTGAGCTCCTGCAGCTTGTACTTCTTCAGGGGCTTATTCTCTTGTCCT
ACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATACCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTAT
GGAGCCCAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGGCATATGAAAAACAGAACTTTGCTCTTGGCAAAGGT
GATGAAGAAGTAATTTCAACACTCCACTATTTTTCCAAAGTGGTGGATGAGCTTAATCTTCTCCATACAGAGCTGGCTAAACAGTTGGCA
GACACAATGGTTCTACCTATCATACAATTCCGAGAAAAGGATCTCACAGAAGTAAGCACTTTAAAGGATCTATTTGGACTCGCTAGCAAT
GAGCATGACCTCTCAATGGCAAAATACAGCAGGCTGCCTAAGAAAAAGGAGAATGAGAAGGTGAAGACCGAAGTCGGAAAAGAGGTGGCC
GCGGCCCGGCGGAAGCAGCACCTCTCCTCCCTTCAGTACTACTGTGCCCTCAACGCGCTGCAGTACAGAAAGCAAATGGCCATGATGGAG
CCCATGATAGGCTTTGCCCATGGACAGATTAACTTTTTTAAGAAGGGAGCAGAGATGTTTTCCAAACGTATGGACAGCTTTTTATCCTCC
GTTGCAGACATGGTTCAAAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGA
ACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGT
CATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCA
TGTGGGCCACACAAGTGCAGTAGTGCAGTTCACCATGAGGGAAGAATAAAGAGCTGTGGGCAAAAGAGTGTAAAATATTTTAAAATAAAC
TTTCTTAATATTTTTACATGCAGAGTATTTTTGTATTCAATTAAAGAAATAATTTTATTCCAGACAGTCACAAATTTCTCTGTTCCATAG
TTAAAGAAGACATTTGCCAACAGGTAGCATAGCTCTGTACATCTTTTAAAAAAAAAATAGCAGGGTACTAGTATAATAAGCTATTTTCAC
AAGTGTAGCAATTTCATGGAACCTGCTCAAATCAAATTTGTACATATTGTTATAATAAATTTTAAGGTCTTAACTATTAACTTGATTGAA

>5690_5690_2_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000539978_NR0B1_chrX_30322940_ENST00000378970_length(amino acids)=286AA_BP=263
MTGSQFVPETDNEATVPVQCESCCDRNTNAALSSCSLYFFRGLFSCPTRSLLSVFEEDAGTLTDYTNQLLQAMQRVYGAQNEMCLATQQL
SKQLLAYEKQNFALGKGDEEVISTLHYFSKVVDELNLLHTELAKQLADTMVLPIIQFREKDLTEVSTLKDLFGLASNEHDLSMAKYSRLP
KKKENEKVKTEVGKEVAAARRKQHLSSLQYYCALNALQYRKQMAMMEPMIGFAHGQINFFKKGAEMFSKRMDSFLSSVADMVQRRAGPAV

--------------------------------------------------------------
>5690_5690_3_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000551662_NR0B1_chrX_30322940_ENST00000378970_length(transcript)=1411nt_BP=793nt
AGTGCTCTCGGCCGCCGCGTCTCCTGCCCTCTGTCCTTCCAACCCAGCCCTCGGCTGAGCCGCGCCGCACCATGCCCGCCGTGGACAAGC
TCCTGCTAGAGGAGGCGTTGCAGGACAGCCCCCAGACTCGCTCTTTACTGAGCGTGTTTGAAGAAGATGCTGGCACCCTCACAGACTATA
CCAACCAGCTGCTCCAGGCAATGCAGCGCGTCTATGGAGCCCAGAATGAGATGTGCCTGGCCACACAACAGCTTTCTAAGCAACTGCTGG
CATATGAAAAACAGAACTTTGCTCTTGGCAAAGGTGATGAAGAAGTAATTTCAACACTCCACTATTTTTCCAAAGTGGTGGATGAGCTTA
ATCTTCTCCATACAGAGCTGGCTAAACAGTTGGCAGACACAATGGTTCTACCTATCATACAATTCCGAGAAAAGGATCTCACAGAAGTAA
GCACTTTAAAGGATCTATTTGGACTCGCTAGCAATGATGTCTGTTTATTTTTAGAGCATGACCTCTCAATGGCAAAATACAGCAGGCTGC
CTAAGAAAAAGGAGAATGAGAAGGTGAAGACCGAAGTCGGAAAAGAGGTGGCCGCGGCCCGGCGGAAGCAGCACCTCTCCTCCCTTCAGT
ACTACTGTGCCCTCAACGCGCTGCAGTACAGAAAGCAAATGGCCATGATGGAGCCCATGATAGGCTTTGCCCATGGACAGATTAACTTTT
TTAAGAAGGGAGCAGAGATGTTTTCCAAACGTATGGACAGCTTTTTATCCTCCGTTGCAGACATGGTTCAAAGACGTGCCGGGCCTGCAG
TGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGA
TTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACA
GTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCATGTGGGCCACACAAGTGCAGTAGTGCAGTTCACCATG
AGGGAAGAATAAAGAGCTGTGGGCAAAAGAGTGTAAAATATTTTAAAATAAACTTTCTTAATATTTTTACATGCAGAGTATTTTTGTATT
CAATTAAAGAAATAATTTTATTCCAGACAGTCACAAATTTCTCTGTTCCATAGTTAAAGAAGACATTTGCCAACAGGTAGCATAGCTCTG
TACATCTTTTAAAAAAAAAATAGCAGGGTACTAGTATAATAAGCTATTTTCACAAGTGTAGCAATTTCATGGAACCTGCTCAAATCAAAT

>5690_5690_3_APPL2-NR0B1_APPL2_chr12_105597481_ENST00000551662_NR0B1_chrX_30322940_ENST00000378970_length(amino acids)=279AA_BP=256
MPSVLPTQPSAEPRRTMPAVDKLLLEEALQDSPQTRSLLSVFEEDAGTLTDYTNQLLQAMQRVYGAQNEMCLATQQLSKQLLAYEKQNFA
LGKGDEEVISTLHYFSKVVDELNLLHTELAKQLADTMVLPIIQFREKDLTEVSTLKDLFGLASNDVCLFLEHDLSMAKYSRLPKKKENEK
VKTEVGKEVAAARRKQHLSSLQYYCALNALQYRKQMAMMEPMIGFAHGQINFFKKGAEMFSKRMDSFLSSVADMVQRRAGPAVREVHSGT

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for APPL2-NR0B1


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 APPL2-NR0B1


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 APPL2-NR0B1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPPL2C0013146Drug abuse1CTD_human
HgeneAPPL2C0013170Drug habituation1CTD_human
HgeneAPPL2C0013222Drug Use Disorders1CTD_human
HgeneAPPL2C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneAPPL2C0033578Prostatic Neoplasms1CTD_human
HgeneAPPL2C0038580Substance Dependence1CTD_human
HgeneAPPL2C0038586Substance Use Disorders1CTD_human
HgeneAPPL2C0236969Substance-Related Disorders1CTD_human
HgeneAPPL2C0376358Malignant neoplasm of prostate1CTD_human
HgeneAPPL2C0740858Substance abuse problem1CTD_human
HgeneAPPL2C1510472Drug Dependence1CTD_human
HgeneAPPL2C4316881Prescription Drug Abuse1CTD_human
TgeneC0342482X-linked Adrenal Hypoplasia19CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0795887Complex Glycerol Kinase Deficiency2CTD_human
TgeneC1868690Hypoadrenocorticism, familial2CTD_human
TgeneC4505291Xp21 Contiguous Gene Deletion Syndrome2CTD_human
TgeneC0020619Hypogonadism1CTD_human
TgeneC0028960Oligospermia1CTD_human
TgeneC0220766Congenital hypoplasia of adrenal gland1GENOMICS_ENGLAND
TgeneC0271623Hypogonadotropic hypogonadism1CTD_human
TgeneC0432475XX males1ORPHANET
TgeneC0948896Primary hypogonadism1CTD_human
TgeneC1848296DOSAGE-SENSITIVE SEX REVERSAL1CTD_human;GENOMICS_ENGLAND
TgeneC293641946, XX Testicular Disorders of Sex Development1ORPHANET
TgeneC3489396Hypogonadism, Isolated Hypogonadotropic1CTD_human
TgeneC451074446,XY partial gonadal dysgenesis1ORPHANET