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:AP2A1-NDUFA11 (FusionGDB2 ID:HG160TG126328)

Fusion Gene Summary for AP2A1-NDUFA11

check button Fusion gene summary
Fusion gene informationFusion gene name: AP2A1-NDUFA11
Fusion gene ID: hg160tg126328
HgeneTgene
Gene symbol

AP2A1

NDUFA11

Gene ID

160

126328

Gene nameadaptor related protein complex 2 subunit alpha 1NADH:ubiquinone oxidoreductase subunit A11
SynonymsADTAA|AP2-ALPHA|CLAPA1B14.7|CI-B14.7|MC1DN14
Cytomap('AP2A1')('NDUFA11')

19q13.33

19p13.3

Type of geneprotein-codingprotein-coding
DescriptionAP-2 complex subunit alpha-1100 kDa coated vesicle protein Aadapter-related protein complex 2 alpha-1 subunitadapter-related protein complex 2 subunit alpha-1adaptin, alpha Aadaptor protein complex AP-2 subunit alpha-1adaptor related protein complexNADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 11NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDaNADH-ubiquinone oxidoreductase subunit B14.7complex I B14.7 subunit
Modification date2020031320200313
UniProtAcc.

Q86Y39

Ensembl transtripts involved in fusion geneENST00000600199, ENST00000354293, 
ENST00000359032, 
Fusion gene scores* DoF score8 X 10 X 7=5603 X 3 X 3=27
# samples 124
** MAII scorelog2(12/560*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AP2A1 [Title/Abstract] AND NDUFA11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAP2A1(50270457)-NDUFA11(5897008), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneAP2A1

GO:0072583

clathrin-dependent endocytosis

23676497

HgeneAP2A1

GO:1900126

negative regulation of hyaluronan biosynthetic process

24251095


check buttonFusion gene breakpoints across AP2A1 (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 NDUFA11 (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
* 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
ChimerDB4Non-Cancer61NAP2A1chr19

50270457

+NDUFA11chr19

5897008

-


Top

Fusion Gene ORF analysis for AP2A1-NDUFA11

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
3UTR-3CDSENST00000600199ENST00000308961AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
3UTR-3CDSENST00000600199ENST00000418389AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
3UTR-3CDSENST00000600199ENST00000592634AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
3UTR-intronENST00000600199ENST00000591160AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
5CDS-intronENST00000354293ENST00000591160AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
5CDS-intronENST00000359032ENST00000591160AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000354293ENST00000308961AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000354293ENST00000418389AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000354293ENST00000592634AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000359032ENST00000308961AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000359032ENST00000418389AP2A1chr19

50270457

+NDUFA11chr19

5897008

-
In-frameENST00000359032ENST00000592634AP2A1chr19

50270457

+NDUFA11chr19

5897008

-

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)
ENST00000354293AP2A1chr1950270457+ENST00000418389NDUFA11chr195897008-24642333571415352
ENST00000354293AP2A1chr1950270457+ENST00000592634NDUFA11chr195897008-22272331333695212
ENST00000354293AP2A1chr1950270457+ENST00000308961NDUFA11chr195897008-62723367561164
ENST00000359032AP2A1chr1950270457+ENST00000418389NDUFA11chr195897008-2298671911249352
ENST00000359032AP2A1chr1950270457+ENST00000592634NDUFA11chr195897008-2061671167529212
ENST00000359032AP2A1chr1950270457+ENST00000308961NDUFA11chr195897008-461670395131

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
ENST00000354293ENST00000418389AP2A1chr1950270457+NDUFA11chr195897008-0.6615410.33845904
ENST00000354293ENST00000592634AP2A1chr1950270457+NDUFA11chr195897008-0.63997150.3600285
ENST00000354293ENST00000308961AP2A1chr1950270457+NDUFA11chr195897008-0.0119906580.9880093
ENST00000359032ENST00000418389AP2A1chr1950270457+NDUFA11chr195897008-0.67171690.3282831
ENST00000359032ENST00000592634AP2A1chr1950270457+NDUFA11chr195897008-0.90434720.09565276
ENST00000359032ENST00000308961AP2A1chr1950270457+NDUFA11chr195897008-0.016409510.98359054

Top

Fusion Genomic Features for AP2A1-NDUFA11


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 AP2A1-NDUFA11


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/chr19:50270457/chr19:5897008)
- 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
.NDUFA11

Q86Y39

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: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}.

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
TgeneNDUFA11chr19:50270457chr19:5897008ENST000003089610458_8032142.0TransmembraneHelical
TgeneNDUFA11chr19:50270457chr19:5897008ENST000004183890458_8032229.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneNDUFA11chr19:50270457chr19:5897008ENST000003089610421_4332142.0TransmembraneHelical
TgeneNDUFA11chr19:50270457chr19:5897008ENST000004183890421_4332229.0TransmembraneHelical


Top

Fusion Gene Sequence for AP2A1-NDUFA11


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.
>5218_5218_1_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000308961_length(transcript)=627nt_BP=233nt
GGTGCCACGGCCTGCCAGCCCGCCCGCCCGCCCGCCAGCCAGCCCTCCCCGCGGCCGGCTCGGCTCCTTGGCGCTGCCTGGGGTCCTTTC
CGCCCGGTCCCCGCTTGCCAGCCCCCGCTGCTCTGTGCCCTGTCCGGCCAGGCCTGGAGCCGACACCACCGCCATCATGCCGGCCGTGTC
CAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGAGTCACACTCAATCC
TCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTTGGCCTCACCACCTG
CATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACTCTGGGAGCACGCAC
GCACAACTACGGGATTGGCGCCGCCGCCTGCGTGTACTTTGGCATAGCGGCCTCCCTGGTCAAGATGGGCCGGCTGGAGGGCTGGGAGGT
GTTTGCAAAACCCAAGGTGTGAGCCCTGTGCCTGCCGGGACCTCCAGCCTGCAGAATGCGTCCAGAAATAAATTCTGTGTCTGTGTG

>5218_5218_1_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000308961_length(amino acids)=164AA_BP=56
MALPGVLSARSPLASPRCSVPCPARPGADTTAIMPAVSKGDGMRGLAVFISDIRNCLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVG
AVFGLTTCISAHVREKPDDPLNYFLGGCAGGLTLGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV

--------------------------------------------------------------
>5218_5218_2_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000418389_length(transcript)=2464nt_BP=233nt
GGTGCCACGGCCTGCCAGCCCGCCCGCCCGCCCGCCAGCCAGCCCTCCCCGCGGCCGGCTCGGCTCCTTGGCGCTGCCTGGGGTCCTTTC
CGCCCGGTCCCCGCTTGCCAGCCCCCGCTGCTCTGTGCCCTGTCCGGCCAGGCCTGGAGCCGACACCACCGCCATCATGCCGGCCGTGTC
CAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGAGTCACACTCAATCC
TCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTTGGCCTCACCACCTG
CATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACTCTGGGAGCACGCAA
GACAGGATCTCACTGTGTTGTGCAGGCTGGTCTCAAACTCCTGGCCTCGAGCAGTCCTCACACCTCAGCCTCCCAGAGTGCTGGGATTAT
AGGCATGAGCCACTGTGTACAGAGATTCTGGGTCCCTTCTTCCAGCGCCTGCCTCGAAGTCCTCTCTGGAGAGAGCACAGATGTCCACGC
GTGTTCCAGCACAAGGGGGGCATGCAACAGCTCAGGGTCACGTCCACTTCCGGAGCTGGGTGCCCGGGCCTCGGGCTCCCTGAGAAAGGG
CGGACACACCCACCCCGCACCCAGAGGGGCAGGGGCCCTGACACCTGTCCAAGCCCTAATAGAGTCATTGTTAAACACTCTGGGTTCGAA
CCCCAGAACTTGATTCTTTCCTTGTTCTGTCCTCAGAGGACGGCAGCACCCAGGCCTCAGCTTTCCCACCTGGTAAATGGGAATAAGGGC
CCCTCAGAGATGCCCCACAAAGAAAGACGATTCCACCTCCCTGCAGGCATCCCATCCACTCACGGGCATCGCATCCACTCGAGGGCACCG
GCCTCTGTCTCTACTGCGGCCGGCAGGGGGCAGCGCCCACCACAGCACGGCCTGCTGGGCAGTGTGGACCCGGGCGGTCATCCCCAGGCC
CCCAGCCCCGCGGTGACCACAGGCGTCAGATTCCATCCCTTCCTCCGCACTCCAGGCCTTGTCTGTCCCTCATCCCCCTTCCTTCCCATG
CATCCTGCCCACCGCAGCCGGGAAGTGATGGCTTCTAGGAATGGGCAATACAGCCCCAAACCTCCAGCCAAGGACACCGAAGGCTGGACA
GGAGGAAAGACTAGTCCACGTCCCCACGACGGTCACCCTCAGCCCTGCACCATGGCCGCTTCTGGGACTGGTTCCACGCAGGCCTCCGCC
CCCTGCAAGCCCTTCCCCGGCCCTCCAGGCCCGTGTGCGGCCCAAACCCTGTACCAGATCTCTTAGCCCTCTTCCACGGATGCGCGCGCT
GAGGCCCACCCTGGGTAGTGGAGCTTGAAATTTAAAGGCCGCACGCCCCTTCGCACCTCCCAGCCCCAGGTGCCTCCCTGTGTTCAAGGG
AGCCGACGGCTCAGACCAGGAGCTGTGCTCGCCGCCCACCCAGCCCATTCCGGGCTAGCCGCCAGGGTTGGCGCAGGCCTGCCAGGCGCC
CCCACCTCGCCTGCAGGACGGGCCCCCCAGAATGGAACACGAGGGGGTGGTCTCTTGCTGGGCTCCAGGGAACCCCAAAGCCGAGGCCCC
CCGGCCCATAAACATTTACTAGGTTGTGGAGGGCTGACGTCACTCCCACCCCACACACAAGAGGGCCCCCGTCTGGAACATCGGTCCCAG
CAGGCTCCCTGAGGGGCTGTGGGGGACCCTTCCTGAGTTTACCTTGAACTTCATGGAGCCCTTCCCAGCCCCAGGCAGTCAGGGCTGGAA
CTGAGGAGGGGCAGAGCCTCCCTGGGGAGCTAGGAGGGCTTCCTAGAGGAGGAGGCGGCACAGCAGAGAGGGCCCAAGGATGAAGAGGCT
TTTCCATGTGTACCCAGCGGGAGGCTGGTCCAGGCAGAGCACACAGCAACAGCAGAGGCCTGCTGTGAGGGAGAGCAGTGGGCGATCAGG
GGCCTCCTGGTCCAGGAGAGGTGCCTGGGGGCTGCAGGGCACACACTTGCTTCCCGAGAATCCATCCCTGGAGACACATCCCCAGCAGAG
ACAAGGCTCCAAGAACACCGGCCTGGCCCTGCGCCGTGGCTCAGGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCTGGGGGATCACTT
GAGGTCAGGAGTTTCAGACCACCCTGGCCAACACAGTGAAACCCTGTCTCTACTATACAAAAATAAGCCAGGTGTGGTGGCAGGCACCTG
TAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCATGTCACTGTACT
CCAGCCTGGGAGACAGTGAGCGAGACTTTGTATC

>5218_5218_2_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000418389_length(amino acids)=352AA_BP=31
MHQRPCPREARRPPELLPRWLRRRPDSGSTQDRISLCCAGWSQTPGLEQSSHLSLPECWDYRHEPLCTEILGPFFQRLPRSPLWREHRCP
RVFQHKGGMQQLRVTSTSGAGCPGLGLPEKGRTHPPRTQRGRGPDTCPSPNRVIVKHSGFEPQNLILSLFCPQRTAAPRPQLSHLVNGNK
GPSEMPHKERRFHLPAGIPSTHGHRIHSRAPASVSTAAGRGQRPPQHGLLGSVDPGGHPQAPSPAVTTGVRFHPFLRTPGLVCPSSPFLP
MHPAHRSREVMASRNGQYSPKPPAKDTEGWTGGKTSPRPHDGHPQPCTMAASGTGSTQASAPCKPFPGPPGPCAAQTLYQIS

--------------------------------------------------------------
>5218_5218_3_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000592634_length(transcript)=2227nt_BP=233nt
GGTGCCACGGCCTGCCAGCCCGCCCGCCCGCCCGCCAGCCAGCCCTCCCCGCGGCCGGCTCGGCTCCTTGGCGCTGCCTGGGGTCCTTTC
CGCCCGGTCCCCGCTTGCCAGCCCCCGCTGCTCTGTGCCCTGTCCGGCCAGGCCTGGAGCCGACACCACCGCCATCATGCCGGCCGTGTC
CAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGAGTCACACTCAATCC
TCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTTGGCCTCACCACCTG
CATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACTCTGGGAGCACGCAG
TGAGTGGCCCCCTCCCCACCCCCACCCTCCTCCCAGCCTGGCAGAATGACCCCTGACCTCTGCTCATCCTCCACCCTCTCTGTTCCATCC
CGGACAAGAAGTAAAGCAGCCTTCTTGAACACCAGCCATTTCAGTCATAGCGACAGCTGCTGCTGCTGCTTAAGCACCTACTGTGGCCCT
CCCTGACCTGCCCTGTCCCCTCCCCACCCTCCCCTCCTCACTCTGCTCCAGCCACACGGGCCTCCTCACTGCTCCTCCCACATGCCAGGT
ACAGTCCTGCCCCAGGGCCTTTGCATGGGCAGTGCACTGCGTGGAATGCTGTTCCCCTCACTGTCCTGACCACCCTGTGTACAAGCCAGC
ATCCCCGCCGCCCTCGCTCTGTGCCGCCTTCCTTCTGTGTGCCTTGTCAGAGGACACAGGTCACCAAGGTCACCCCCTGTCTCTGCCACT
GGCCTGTGAGTCAGAGAGGAGGATGGATGGAGTCTCGCCCTGCCATCTCTCTCCCTGCACCTGGAGCCCTGCAGGGGAGCTGCCCCCGCA
ACCTTCACTTTACAGAAAAGGGTATTAGGGCTCAGGGAGGGAATTAAGTGGCCCGAGGTCACCTGGAGGAGCAAGTGGCCTTCTTTGCAG
CCATCAGAGGGTGCAGCCCTGGTGGAGAAGGCCACGCTTGGCACAGGGGAGCCCGTCTGGAGCATGAGCCAGACATCACTCCTGCCCTCC
CATGGGCCCGGGCTCAGCGTCAGTGCCCGCCTGTGCCCCTGGCCTACCCCCAGCCCGCCAAGGCTCGGGCCCTCAGGGCCAGCGGGAGGA
GTGAACGAGCCCTCTTGCAGCTCAGCCGCTCTGGCCTGGCATGTTGGGAGTGATGAATGGCAGGTTCCAGGCAGGCAGAGAGGGAGGGTG
CGAGGGCAGGGCGTACGCCGTCACTGCTGTCTCTGCGTCAAGACCTTGGGGAGGCCTTGTCCCTCCCCAGCTCCCACTGGAACTGGTCAG
AGGTTGCAGGTGGGTTGAGGTCTTGACTGTAGCCCAGCTCAGGCTGGAACTGCTCCCTGTCCCCAAGCCAGCCTCCCTGTCTCTCTTCAA
AGAGTGTGAGTCCCTTTAGGTCCTGGTGTGTGGGGACACACCTCCTTCCTCCTCTGGCCCGGAGGCTTCGGAGCAGGAGAGCCTGGAGAA
GTGGGGGCACTGTCGGGGCTCCTCGGTACACAGACCACGGGACAGATGCGTGGCCTGGCCCTGGCATCCATGGGCAAAGGAGAGACTGAG
ACACACCGATGTGTCACCATGGCCCGGTGCCCAGCCTTGCCCCAGCCCCAGCTGGGGGCAGCACGGTGTCCTCGCAGGGGGAAGTCAGTG
TGGGGCGGGATGAGGACCCACAGCCTGGGTTCCTGCTGGGAAGCAACCTGGACTCCGGCCTCCCTCTGTGCATCAGTTTCCACATCTCCA
GAGTCTAGGGCCCTCTTCCTGAGTGACTTAATCCCTGAAGAGAGTGTCCTGTCAGGGGTCTCAGTCTGGCTCCCAGGGTGGGCACCGGCC
AGGGCGTGGAGCGTCTTGGTCCGGCCGAGCCCCACCCGGGCCTGACATCACCTCCCCACTCCCACAGCGCACAACTACGGGATTGGCGCC
GCCGCCTGCGTGTACTTTGGCATAGCGGCCTCCCTGGTCAAGATGGGCCGGCTGGAGGGCTGGGAGGTGTTTGCAAAACCCAAGGTGTGA
GCCCTGTGCCTGCCGGGACCTCCAGCCTGCAGAATGCGTCCAGAAATAAATTCTGTGTCTGTGTGTG

>5218_5218_3_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000354293_NDUFA11_chr19_5897008_ENST00000592634_length(amino acids)=212AA_BP=
MPGTCHSSLPTCQARAAELQEGSFTPPAGPEGPSLGGLGVGQGHRRALTLSPGPWEGRSDVWLMLQTGSPVPSVAFSTRAAPSDGCKEGH
LLLQVTSGHLIPSLSPNTLFCKVKVAGAAPLQGSRCRERDGRARLHPSSSLTHRPVAETGGDLGDLCPLTRHTEGRRHRARAAGMLACTQ
GGQDSEGNSIPRSALPMQRPWGRTVPGMWEEQ

--------------------------------------------------------------
>5218_5218_4_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000308961_length(transcript)=461nt_BP=67nt
ATGCCGGCCGTGTCCAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGA
GTCACACTCAATCCTCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTT
GGCCTCACCACCTGCATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACT
CTGGGAGCACGCACGCACAACTACGGGATTGGCGCCGCCGCCTGCGTGTACTTTGGCATAGCGGCCTCCCTGGTCAAGATGGGCCGGCTG
GAGGGCTGGGAGGTGTTTGCAAAACCCAAGGTGTGAGCCCTGTGCCTGCCGGGACCTCCAGCCTGCAGAATGCGTCCAGAAATAAATTCT
GTGTCTGTGTG

>5218_5218_4_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000308961_length(amino acids)=131AA_BP=23
MPAVSKGDGMRGLAVFISDIRNCLTAAAYRVTLNPPGTFLEGVAKVGQYTFTAAAVGAVFGLTTCISAHVREKPDDPLNYFLGGCAGGLT
LGARTHNYGIGAAACVYFGIAASLVKMGRLEGWEVFAKPKV

--------------------------------------------------------------
>5218_5218_5_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000418389_length(transcript)=2298nt_BP=67nt
ATGCCGGCCGTGTCCAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGA
GTCACACTCAATCCTCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTT
GGCCTCACCACCTGCATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACT
CTGGGAGCACGCAAGACAGGATCTCACTGTGTTGTGCAGGCTGGTCTCAAACTCCTGGCCTCGAGCAGTCCTCACACCTCAGCCTCCCAG
AGTGCTGGGATTATAGGCATGAGCCACTGTGTACAGAGATTCTGGGTCCCTTCTTCCAGCGCCTGCCTCGAAGTCCTCTCTGGAGAGAGC
ACAGATGTCCACGCGTGTTCCAGCACAAGGGGGGCATGCAACAGCTCAGGGTCACGTCCACTTCCGGAGCTGGGTGCCCGGGCCTCGGGC
TCCCTGAGAAAGGGCGGACACACCCACCCCGCACCCAGAGGGGCAGGGGCCCTGACACCTGTCCAAGCCCTAATAGAGTCATTGTTAAAC
ACTCTGGGTTCGAACCCCAGAACTTGATTCTTTCCTTGTTCTGTCCTCAGAGGACGGCAGCACCCAGGCCTCAGCTTTCCCACCTGGTAA
ATGGGAATAAGGGCCCCTCAGAGATGCCCCACAAAGAAAGACGATTCCACCTCCCTGCAGGCATCCCATCCACTCACGGGCATCGCATCC
ACTCGAGGGCACCGGCCTCTGTCTCTACTGCGGCCGGCAGGGGGCAGCGCCCACCACAGCACGGCCTGCTGGGCAGTGTGGACCCGGGCG
GTCATCCCCAGGCCCCCAGCCCCGCGGTGACCACAGGCGTCAGATTCCATCCCTTCCTCCGCACTCCAGGCCTTGTCTGTCCCTCATCCC
CCTTCCTTCCCATGCATCCTGCCCACCGCAGCCGGGAAGTGATGGCTTCTAGGAATGGGCAATACAGCCCCAAACCTCCAGCCAAGGACA
CCGAAGGCTGGACAGGAGGAAAGACTAGTCCACGTCCCCACGACGGTCACCCTCAGCCCTGCACCATGGCCGCTTCTGGGACTGGTTCCA
CGCAGGCCTCCGCCCCCTGCAAGCCCTTCCCCGGCCCTCCAGGCCCGTGTGCGGCCCAAACCCTGTACCAGATCTCTTAGCCCTCTTCCA
CGGATGCGCGCGCTGAGGCCCACCCTGGGTAGTGGAGCTTGAAATTTAAAGGCCGCACGCCCCTTCGCACCTCCCAGCCCCAGGTGCCTC
CCTGTGTTCAAGGGAGCCGACGGCTCAGACCAGGAGCTGTGCTCGCCGCCCACCCAGCCCATTCCGGGCTAGCCGCCAGGGTTGGCGCAG
GCCTGCCAGGCGCCCCCACCTCGCCTGCAGGACGGGCCCCCCAGAATGGAACACGAGGGGGTGGTCTCTTGCTGGGCTCCAGGGAACCCC
AAAGCCGAGGCCCCCCGGCCCATAAACATTTACTAGGTTGTGGAGGGCTGACGTCACTCCCACCCCACACACAAGAGGGCCCCCGTCTGG
AACATCGGTCCCAGCAGGCTCCCTGAGGGGCTGTGGGGGACCCTTCCTGAGTTTACCTTGAACTTCATGGAGCCCTTCCCAGCCCCAGGC
AGTCAGGGCTGGAACTGAGGAGGGGCAGAGCCTCCCTGGGGAGCTAGGAGGGCTTCCTAGAGGAGGAGGCGGCACAGCAGAGAGGGCCCA
AGGATGAAGAGGCTTTTCCATGTGTACCCAGCGGGAGGCTGGTCCAGGCAGAGCACACAGCAACAGCAGAGGCCTGCTGTGAGGGAGAGC
AGTGGGCGATCAGGGGCCTCCTGGTCCAGGAGAGGTGCCTGGGGGCTGCAGGGCACACACTTGCTTCCCGAGAATCCATCCCTGGAGACA
CATCCCCAGCAGAGACAAGGCTCCAAGAACACCGGCCTGGCCCTGCGCCGTGGCTCAGGCCTGTAATCCCAGTACTTTGGGAGGCCGAGG
CTGGGGGATCACTTGAGGTCAGGAGTTTCAGACCACCCTGGCCAACACAGTGAAACCCTGTCTCTACTATACAAAAATAAGCCAGGTGTG
GTGGCAGGCACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGAT
CATGTCACTGTACTCCAGCCTGGGAGACAGTGAGCGAGACTTTGTATC

>5218_5218_5_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000418389_length(amino acids)=352AA_BP=31
MHQRPCPREARRPPELLPRWLRRRPDSGSTQDRISLCCAGWSQTPGLEQSSHLSLPECWDYRHEPLCTEILGPFFQRLPRSPLWREHRCP
RVFQHKGGMQQLRVTSTSGAGCPGLGLPEKGRTHPPRTQRGRGPDTCPSPNRVIVKHSGFEPQNLILSLFCPQRTAAPRPQLSHLVNGNK
GPSEMPHKERRFHLPAGIPSTHGHRIHSRAPASVSTAAGRGQRPPQHGLLGSVDPGGHPQAPSPAVTTGVRFHPFLRTPGLVCPSSPFLP
MHPAHRSREVMASRNGQYSPKPPAKDTEGWTGGKTSPRPHDGHPQPCTMAASGTGSTQASAPCKPFPGPPGPCAAQTLYQIS

--------------------------------------------------------------
>5218_5218_6_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000592634_length(transcript)=2061nt_BP=67nt
ATGCCGGCCGTGTCCAAGGGCGATGGGATGCGGGGGCTCGCGGTGTTCATCTCCGACATCCGGAACTGCCTGACCGCCGCTGCCTACAGA
GTCACACTCAATCCTCCGGGCACCTTCCTTGAAGGAGTGGCTAAGGTTGGACAATACACGTTCACTGCAGCTGCTGTCGGGGCCGTGTTT
GGCCTCACCACCTGCATCAGCGCCCATGTCCGCGAGAAGCCCGACGACCCCCTGAACTACTTCCTCGGTGGCTGCGCCGGAGGCCTGACT
CTGGGAGCACGCAGTGAGTGGCCCCCTCCCCACCCCCACCCTCCTCCCAGCCTGGCAGAATGACCCCTGACCTCTGCTCATCCTCCACCC
TCTCTGTTCCATCCCGGACAAGAAGTAAAGCAGCCTTCTTGAACACCAGCCATTTCAGTCATAGCGACAGCTGCTGCTGCTGCTTAAGCA
CCTACTGTGGCCCTCCCTGACCTGCCCTGTCCCCTCCCCACCCTCCCCTCCTCACTCTGCTCCAGCCACACGGGCCTCCTCACTGCTCCT
CCCACATGCCAGGTACAGTCCTGCCCCAGGGCCTTTGCATGGGCAGTGCACTGCGTGGAATGCTGTTCCCCTCACTGTCCTGACCACCCT
GTGTACAAGCCAGCATCCCCGCCGCCCTCGCTCTGTGCCGCCTTCCTTCTGTGTGCCTTGTCAGAGGACACAGGTCACCAAGGTCACCCC
CTGTCTCTGCCACTGGCCTGTGAGTCAGAGAGGAGGATGGATGGAGTCTCGCCCTGCCATCTCTCTCCCTGCACCTGGAGCCCTGCAGGG
GAGCTGCCCCCGCAACCTTCACTTTACAGAAAAGGGTATTAGGGCTCAGGGAGGGAATTAAGTGGCCCGAGGTCACCTGGAGGAGCAAGT
GGCCTTCTTTGCAGCCATCAGAGGGTGCAGCCCTGGTGGAGAAGGCCACGCTTGGCACAGGGGAGCCCGTCTGGAGCATGAGCCAGACAT
CACTCCTGCCCTCCCATGGGCCCGGGCTCAGCGTCAGTGCCCGCCTGTGCCCCTGGCCTACCCCCAGCCCGCCAAGGCTCGGGCCCTCAG
GGCCAGCGGGAGGAGTGAACGAGCCCTCTTGCAGCTCAGCCGCTCTGGCCTGGCATGTTGGGAGTGATGAATGGCAGGTTCCAGGCAGGC
AGAGAGGGAGGGTGCGAGGGCAGGGCGTACGCCGTCACTGCTGTCTCTGCGTCAAGACCTTGGGGAGGCCTTGTCCCTCCCCAGCTCCCA
CTGGAACTGGTCAGAGGTTGCAGGTGGGTTGAGGTCTTGACTGTAGCCCAGCTCAGGCTGGAACTGCTCCCTGTCCCCAAGCCAGCCTCC
CTGTCTCTCTTCAAAGAGTGTGAGTCCCTTTAGGTCCTGGTGTGTGGGGACACACCTCCTTCCTCCTCTGGCCCGGAGGCTTCGGAGCAG
GAGAGCCTGGAGAAGTGGGGGCACTGTCGGGGCTCCTCGGTACACAGACCACGGGACAGATGCGTGGCCTGGCCCTGGCATCCATGGGCA
AAGGAGAGACTGAGACACACCGATGTGTCACCATGGCCCGGTGCCCAGCCTTGCCCCAGCCCCAGCTGGGGGCAGCACGGTGTCCTCGCA
GGGGGAAGTCAGTGTGGGGCGGGATGAGGACCCACAGCCTGGGTTCCTGCTGGGAAGCAACCTGGACTCCGGCCTCCCTCTGTGCATCAG
TTTCCACATCTCCAGAGTCTAGGGCCCTCTTCCTGAGTGACTTAATCCCTGAAGAGAGTGTCCTGTCAGGGGTCTCAGTCTGGCTCCCAG
GGTGGGCACCGGCCAGGGCGTGGAGCGTCTTGGTCCGGCCGAGCCCCACCCGGGCCTGACATCACCTCCCCACTCCCACAGCGCACAACT
ACGGGATTGGCGCCGCCGCCTGCGTGTACTTTGGCATAGCGGCCTCCCTGGTCAAGATGGGCCGGCTGGAGGGCTGGGAGGTGTTTGCAA
AACCCAAGGTGTGAGCCCTGTGCCTGCCGGGACCTCCAGCCTGCAGAATGCGTCCAGAAATAAATTCTGTGTCTGTGTGTG

>5218_5218_6_AP2A1-NDUFA11_AP2A1_chr19_50270457_ENST00000359032_NDUFA11_chr19_5897008_ENST00000592634_length(amino acids)=212AA_BP=
MPGTCHSSLPTCQARAAELQEGSFTPPAGPEGPSLGGLGVGQGHRRALTLSPGPWEGRSDVWLMLQTGSPVPSVAFSTRAAPSDGCKEGH
LLLQVTSGHLIPSLSPNTLFCKVKVAGAAPLQGSRCRERDGRARLHPSSSLTHRPVAETGGDLGDLCPLTRHTEGRRHRARAAGMLACTQ
GGQDSEGNSIPRSALPMQRPWGRTVPGMWEEQ

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

Top

Fusion Gene PPI Analysis for AP2A1-NDUFA11


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 AP2A1-NDUFA11


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneNDUFA11Q86Y39DB00157NADHSmall moleculeApproved|Nutraceutical

Top

Related Diseases for AP2A1-NDUFA11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1838979MITOCHONDRIAL COMPLEX I DEFICIENCY3GENOMICS_ENGLAND;ORPHANET
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND