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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ATP6AP2-APC (FusionGDB2 ID:HG10159TG324)

Fusion Gene Summary for ATP6AP2-APC

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP2-APC
Fusion gene ID: hg10159tg324
HgeneTgene
Gene symbol

ATP6AP2

APC

Gene ID

10159

324

Gene nameATPase H+ transporting accessory protein 2APC regulator of WNT signaling pathway
SynonymsAPT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MRXE|MRXSH|MSTP009|PRR|RENR|XMRE|XPDSBTPS2|DESMD|DP2|DP2.5|DP3|GS|PPP1R46
Cytomap('ATP6AP2')('APC')

Xp11.4

5q22.2

Type of geneprotein-codingprotein-coding
Descriptionrenin receptorATPase H(+)-transporting lysosomal-interacting protein 2ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9ATPase, H+ transporting, lysosomal accessory protein 2ATPase, H+ transporting, lysosadenomatous polyposis coli proteinAPC, WNT signaling pathway regulatorWNT signaling pathway regulatoradenomatosis polyposis coli tumor suppressoradenomatous polyposis coli (APC)deleted in polyposis 2.5epididymis secretory sperm binding proteinprote
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000378438, ENST00000535539, 
ENST00000535777, ENST00000544975, 
ENST00000486558, 
Fusion gene scores* DoF score5 X 4 X 2=407 X 7 X 1=49
# samples 57
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(7/49*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6AP2 [Title/Abstract] AND APC [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATP6AP2(40465006)-APC(112178950), # 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
HgeneATP6AP2

GO:0002003

angiotensin maturation

12045255|15746149

HgeneATP6AP2

GO:0032914

positive regulation of transforming growth factor beta1 production

16374430

HgeneATP6AP2

GO:0043408

regulation of MAPK cascade

12045255|15746149

TgeneAPC

GO:0006974

cellular response to DNA damage stimulus

14728717

TgeneAPC

GO:0007026

negative regulation of microtubule depolymerization

11166179

TgeneAPC

GO:0007050

cell cycle arrest

8521819

TgeneAPC

GO:0008285

negative regulation of cell proliferation

8521819

TgeneAPC

GO:0045736

negative regulation of cyclin-dependent protein serine/threonine kinase activity

8521819

TgeneAPC

GO:0065003

protein-containing complex assembly

16188939



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
ChiTaRS5.0N/ABQ348746ATP6AP2chrX

40465006

-APCchr5

112178950

+


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Fusion Gene ORF analysis for ATP6AP2-APC

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-intronENST00000378438ENST00000257430ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000378438ENST00000457016ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000378438ENST00000505350ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000378438ENST00000508376ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535539ENST00000257430ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535539ENST00000457016ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535539ENST00000505350ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535539ENST00000508376ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535777ENST00000257430ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535777ENST00000457016ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535777ENST00000505350ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000535777ENST00000508376ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000544975ENST00000257430ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000544975ENST00000457016ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000544975ENST00000505350ATP6AP2chrX

40465006

-APCchr5

112178950

+
5CDS-intronENST00000544975ENST00000508376ATP6AP2chrX

40465006

-APCchr5

112178950

+
intron-intronENST00000486558ENST00000257430ATP6AP2chrX

40465006

-APCchr5

112178950

+
intron-intronENST00000486558ENST00000457016ATP6AP2chrX

40465006

-APCchr5

112178950

+
intron-intronENST00000486558ENST00000505350ATP6AP2chrX

40465006

-APCchr5

112178950

+
intron-intronENST00000486558ENST00000508376ATP6AP2chrX

40465006

-APCchr5

112178950

+

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

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Fusion Genomic Features for ATP6AP2-APC


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)


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Fusion Protein Features for ATP6AP2-APC


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/:40465006/:112178950)
- 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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ATP6AP2-APC


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.

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Fusion Gene PPI Analysis for ATP6AP2-APC


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


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Related Drugs for ATP6AP2-APC


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

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Related Diseases for ATP6AP2-APC


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6AP2C1845543Mental Retardation, X-Linked, with Epilepsy3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneATP6AP2C0016059Fibrosis1CTD_human
HgeneATP6AP2C0376634Craniofacial Abnormalities1CTD_human
HgeneATP6AP2C1623038Cirrhosis1CTD_human
HgeneATP6AP2C3806722PARKINSONISM WITH SPASTICITY, X-LINKED1CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0032580Adenomatous Polyposis Coli24CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC2713442Polyposis, Adenomatous Intestinal11CTD_human
TgeneC2713443Familial Intestinal Polyposis11CTD_human
TgeneC0007102Malignant tumor of colon7CTD_human
TgeneC0009375Colonic Neoplasms7CTD_human
TgeneC0009402Colorectal Carcinoma7CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0009404Colorectal Neoplasms7CTD_human;UNIPROT
TgeneC0021841Intestinal Neoplasms6CTD_human
TgeneC0346627Intestinal Cancer6CTD_human
TgeneC0001430Adenoma5CTD_human
TgeneC0205646Adenoma, Basal Cell5CTD_human
TgeneC0205647Follicular adenoma5CTD_human
TgeneC0205648Adenoma, Microcystic5CTD_human
TgeneC0205649Adenoma, Monomorphic5CTD_human
TgeneC0205650Papillary adenoma5CTD_human
TgeneC0205651Adenoma, Trabecular5CTD_human
TgeneC0021846Intestinal Polyps3CTD_human
TgeneC0001418Adenocarcinoma2CTD_human
TgeneC0004352Autistic Disorder2CTD_human
TgeneC0007113Rectal Carcinoma2CTD_human
TgeneC0007621Neoplastic Cell Transformation2CTD_human
TgeneC0025149Medulloblastoma2CTD_human;UNIPROT
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0034885Rectal Neoplasms2CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell2CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic2CTD_human
TgeneC0205643Carcinoma, Cribriform2CTD_human
TgeneC0205644Carcinoma, Granular Cell2CTD_human
TgeneC0205645Adenocarcinoma, Tubular2CTD_human
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0002886Anemia, Macrocytic1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0009405Hereditary Nonpolyposis Colorectal Neoplasms1CTD_human
TgeneC0015393Eye Abnormalities1CTD_human
TgeneC0017181Gastrointestinal Hemorrhage1CTD_human
TgeneC0017185Gastrointestinal Neoplasms1CTD_human
TgeneC0017636Glioblastoma1CTD_human
TgeneC0018932Hematochezia1CTD_human
TgeneC0020473Hyperlipidemia1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0021390Inflammatory Bowel Diseases1CTD_human
TgeneC0023518Leukocytosis1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0025500Mesothelioma1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038002Splenomegaly1CTD_human
TgeneC0079218Fibromatosis, Aggressive1CGI;CTD_human;ORPHANET
TgeneC0151857Pleocytosis1CTD_human
TgeneC0205833Medullomyoblastoma1CTD_human
TgeneC0206646Fibromatosis, Abdominal1CTD_human
TgeneC0206677Adenomatous Polyps1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0265325Turcot syndrome (disorder)1CTD_human
TgeneC0278510Childhood Medulloblastoma1CTD_human
TgeneC0278876Adult Medulloblastoma1CTD_human
TgeneC0334588Giant Cell Glioblastoma1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0685938Malignant neoplasm of gastrointestinal tract1CTD_human
TgeneC0751291Desmoplastic Medulloblastoma1CTD_human
TgeneC0917816Mental deficiency1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1275668Melanotic medulloblastoma1CTD_human
TgeneC1333990Hereditary Nonpolyposis Colorectal Cancer1CTD_human
TgeneC1621958Glioblastoma Multiforme1CTD_human
TgeneC1706412Lipidemias1CTD_human
TgeneC1859309Syndactyly Cenani Lenz type1ORPHANET
TgeneC1879526Aberrant Crypt Foci1CTD_human
TgeneC3714756Intellectual Disability1CTD_human
TgeneC4552100Lynch Syndrome1CTD_human