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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:APP-MYL12B (FusionGDB2 ID:HG351TG103910)

Fusion Gene Summary for APP-MYL12B

check button Fusion gene summary
Fusion gene informationFusion gene name: APP-MYL12B
Fusion gene ID: hg351tg103910
HgeneTgene
Gene symbol

APP

MYL12B

Gene ID

351

103910

Gene nameamyloid beta precursor proteinmyosin light chain 12B
SynonymsAAA|ABETA|ABPP|AD1|APPI|CTFgamma|CVAP|PN-II|PN2|preA4MLC-B|MRLC2
Cytomap('APP')('MYL12B')

21q21.3

18p11.31

Type of geneprotein-codingprotein-coding
Descriptionamyloid-beta precursor proteinalzheimer disease amyloid proteinamyloid beta (A4) precursor proteinamyloid beta A4 proteinamyloid precursor proteinbeta-amyloid peptidebeta-amyloid peptide(1-40)beta-amyloid peptide(1-42)beta-amyloid precursor proteimyosin regulatory light chain 12BMLC-2MLC-2AMLC20SHUJUN-1myosin regulatory light chain 2myosin regulatory light chain 2-B, smooth muscle isoformmyosin regulatory light chain 20 kDamyosin regulatory light chain MRLC2myosin, light chain 12B, regula
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000346798, ENST00000348990, 
ENST00000354192, ENST00000357903, 
ENST00000358918, ENST00000359726, 
ENST00000439274, ENST00000440126, 
ENST00000448388, ENST00000474136, 
Fusion gene scores* DoF score31 X 25 X 12=930013 X 8 X 7=728
# samples 3313
** MAII scorelog2(33/9300*10)=-4.81669278663694
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/728*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: APP [Title/Abstract] AND MYL12B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAPP(27347382)-MYL12B(3272881), # 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
HgeneAPP

GO:0001934

positive regulation of protein phosphorylation

11404397

HgeneAPP

GO:0008285

negative regulation of cell proliferation

22944668

HgeneAPP

GO:1905606

regulation of presynapse assembly

19726636



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-Cancer271NAPPchr21

27347382

-MYL12Bchr18

3272881

+


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Fusion Gene ORF analysis for APP-MYL12B

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-5UTRENST00000346798ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000346798ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000346798ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000346798ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000348990ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000348990ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000348990ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000348990ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000354192ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000354192ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000354192ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000354192ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000357903ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000357903ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000357903ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000357903ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000358918ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000358918ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000358918ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000358918ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000359726ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000359726ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000359726ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000359726ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000439274ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000439274ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000439274ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000439274ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000440126ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000440126ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000440126ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000440126ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000448388ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000448388ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000448388ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
5CDS-5UTRENST00000448388ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+
intron-5UTRENST00000474136ENST00000237500APPchr21

27347382

-MYL12Bchr18

3272881

+
intron-5UTRENST00000474136ENST00000400175APPchr21

27347382

-MYL12Bchr18

3272881

+
intron-5UTRENST00000474136ENST00000581193APPchr21

27347382

-MYL12Bchr18

3272881

+
intron-5UTRENST00000474136ENST00000584539APPchr21

27347382

-MYL12Bchr18

3272881

+

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 APP-MYL12B


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)
APPchr2127347382-MYL12Bchr183272881+1.37E-101
APPchr2127347382-MYL12Bchr183272881+1.37E-101


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.
genomic feature of top 1%

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Fusion Protein Features for APP-MYL12B


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/:27347382/:3272881)
- 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 APP-MYL12B


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 APP-MYL12B


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 APP-MYL12B


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 APP-MYL12B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAPPC0002395Alzheimer's Disease63CTD_human;UNIPROT
HgeneAPPC0011265Presenile dementia35CTD_human
HgeneAPPC0276496Familial Alzheimer Disease (FAD)35CTD_human
HgeneAPPC0494463Alzheimer Disease, Late Onset35CTD_human
HgeneAPPC0546126Acute Confusional Senile Dementia35CTD_human
HgeneAPPC0750900Alzheimer's Disease, Focal Onset35CTD_human
HgeneAPPC0750901Alzheimer Disease, Early Onset35CTD_human
HgeneAPPC0025261Memory Disorders16CTD_human
HgeneAPPC0233794Memory impairment16CTD_human
HgeneAPPC0751292Age-Related Memory Disorders16CTD_human
HgeneAPPC0751293Memory Disorder, Semantic16CTD_human
HgeneAPPC0751294Memory Disorder, Spatial16CTD_human
HgeneAPPC0751295Memory Loss16CTD_human
HgeneAPPC0027746Nerve Degeneration11CTD_human
HgeneAPPC0023186Learning Disorders8CTD_human
HgeneAPPC0751262Adult Learning Disorders8CTD_human
HgeneAPPC0751263Learning Disturbance8CTD_human
HgeneAPPC0751265Learning Disabilities8CTD_human
HgeneAPPC1330966Developmental Academic Disorder8CTD_human
HgeneAPPC2751536CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED7CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneAPPC0009241Cognition Disorders5CTD_human
HgeneAPPC0011570Mental Depression5PSYGENET
HgeneAPPC0011581Depressive disorder5PSYGENET
HgeneAPPC0234544Todd Paralysis5CTD_human
HgeneAPPC0522224Paralysed5CTD_human
HgeneAPPC0497327Dementia3CTD_human;GENOMICS_ENGLAND
HgeneAPPC2931672Cerebral hemorrhage with amyloidosis, hereditary, Dutch type3CTD_human;ORPHANET
HgeneAPPC0270715Degenerative Diseases, Central Nervous System2CTD_human
HgeneAPPC0333463Senile Plaques2CTD_human
HgeneAPPC0524851Neurodegenerative Disorders2CTD_human
HgeneAPPC0600467Neurogenic Inflammation2CTD_human
HgeneAPPC0751733Degenerative Diseases, Spinal Cord2CTD_human
HgeneAPPC2751494CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ARCTIC VARIANT2CTD_human
HgeneAPPC2936349Plaque, Amyloid2CTD_human
HgeneAPPC3888307CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT2CTD_human
HgeneAPPC3888308CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT2CTD_human
HgeneAPPC3888309CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT2CTD_human
HgeneAPPC0002622Amnesia1CTD_human
HgeneAPPC0002726Amyloidosis1CTD_human
HgeneAPPC0003469Anxiety Disorders1CTD_human
HgeneAPPC0005586Bipolar Disorder1PSYGENET
HgeneAPPC0006111Brain Diseases1CTD_human
HgeneAPPC0011573Endogenous depression1PSYGENET
HgeneAPPC0016667Fragile X Syndrome1CTD_human
HgeneAPPC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAPPC0027540Necrosis1CTD_human
HgeneAPPC0033141Cardiomyopathies, Primary1CTD_human
HgeneAPPC0036529Myocardial Diseases, Secondary1CTD_human
HgeneAPPC0036572Seizures1GENOMICS_ENGLAND
HgeneAPPC0037928Spinal Cord Diseases1CTD_human
HgeneAPPC0038002Splenomegaly1CTD_human
HgeneAPPC0038454Cerebrovascular accident1GENOMICS_ENGLAND
HgeneAPPC0043094Weight Gain1CTD_human
HgeneAPPC0085220Cerebral Amyloid Angiopathy1CTD_human
HgeneAPPC0085584Encephalopathies1CTD_human
HgeneAPPC0231341Premature aging syndrome1CTD_human
HgeneAPPC0233750Hysterical amnesia1CTD_human
HgeneAPPC0233796Temporary Amnesia1CTD_human
HgeneAPPC0234985Mental deterioration1CTD_human
HgeneAPPC0236795Dissociative Amnesia1CTD_human
HgeneAPPC0262497Global Amnesia1CTD_human
HgeneAPPC0270612Leukoencephalopathy1GENOMICS_ENGLAND
HgeneAPPC0338582Sporadic Cerebral Amyloid Angiopathy1CTD_human
HgeneAPPC0338630Senile Paranoid Dementia1CTD_human
HgeneAPPC0338656Impaired cognition1CTD_human
HgeneAPPC0376280Anxiety States, Neurotic1CTD_human
HgeneAPPC0553692Brain hemorrhage1GENOMICS_ENGLAND
HgeneAPPC0750906Tactile Amnesia1CTD_human
HgeneAPPC0750907Amnestic State1CTD_human
HgeneAPPC0751071Familial Dementia1CTD_human
HgeneAPPC0751156FRAXA Syndrome1CTD_human
HgeneAPPC0751157FRAXE Syndrome1CTD_human
HgeneAPPC0878544Cardiomyopathies1CTD_human
HgeneAPPC0948008Ischemic stroke1GENOMICS_ENGLAND
HgeneAPPC1270972Mild cognitive disorder1CTD_human
HgeneAPPC1279420Anxiety neurosis (finding)1CTD_human