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Center for Computational Systems Medicine
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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:AGAP1-AANAT (FusionGDB2 ID:2869)

Fusion Gene Summary for AGAP1-AANAT

check button Fusion gene summary
Fusion gene informationFusion gene name: AGAP1-AANAT
Fusion gene ID: 2869
HgeneTgene
Gene symbol

AGAP1

AANAT

Gene ID

116987

15

Gene nameArfGAP with GTPase domain, ankyrin repeat and PH domain 1aralkylamine N-acetyltransferase
SynonymsAGAP-1|CENTG2|GGAP1|cnt-g2DSPS|SNAT
Cytomap

2q37.2

17q25.1

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with GTPase, ANK repeat and PH domain-containing protein 1Arf GAP with GTP-binding protein-like, ANK repeat and PH domains 1GTP-binding and GTPase-activating protein 1centaurin, gamma 2serotonin N-acetyltransferasearylalkylamine N-acetyltransferaseserotonin acetylase
Modification date2020031320200313
UniProtAcc

Q9UPQ3

Q16613

Ensembl transtripts involved in fusion geneENST00000336665, ENST00000304032, 
ENST00000409538, ENST00000428334, 
ENST00000409457, 		ENST00000250615, 
ENST00000392492, 
Fusion gene scores* DoF score49 X 18 X 17=149941 X 2 X 1=2
# samples 481
** MAII scorelog2(48/14994*10)=-4.96520709119934
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/2*10)=2.32192809488736
Context

PubMed: AGAP1 [Title/Abstract] AND AANAT [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAGAP1(236403493)-AANAT(74458398), # samples:2
Anticipated loss of major functional domain due to fusion event.AGAP1-AANAT seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AGAP1-AANAT seems lost the major protein functional domain in Tgene partner, which is a cell metabolism 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
TgeneAANAT

GO:0006474

N-terminal protein amino acid acetylation

11313340

TgeneAANAT

GO:0030187

melatonin biosynthetic process

11313340

TgeneAANAT

GO:0071320

cellular response to cAMP

11313340


check buttonFusion gene breakpoints across AGAP1 (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 AANAT (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
ChimerDB4LUSCTCGA-39-5034-01AAGAP1chr2

236403493

+AANATchr17

74458398

+
ChimerDB4LUSCTCGA-39-5034AGAP1chr2

236403493

+AANATchr17

74458398

+
ChimerDB4LUSCTCGA-39-5034-01AAGAP1chr2

236403493

-AANATchr17

74464754

+


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Fusion Gene ORF analysis for AGAP1-AANAT

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-5UTRENST00000336665ENST00000250615AGAP1chr2

236403493

+AANATchr17

74458398

+
5CDS-intronENST00000336665ENST00000392492AGAP1chr2

236403493

+AANATchr17

74458398

+
5CDS-5UTRENST00000304032ENST00000250615AGAP1chr2

236403493

+AANATchr17

74458398

+
5CDS-intronENST00000304032ENST00000392492AGAP1chr2

236403493

+AANATchr17

74458398

+
intron-5UTRENST00000409538ENST00000250615AGAP1chr2

236403493

+AANATchr17

74458398

+
intron-intronENST00000409538ENST00000392492AGAP1chr2

236403493

+AANATchr17

74458398

+
intron-5UTRENST00000428334ENST00000250615AGAP1chr2

236403493

+AANATchr17

74458398

+
intron-intronENST00000428334ENST00000392492AGAP1chr2

236403493

+AANATchr17

74458398

+
5CDS-5UTRENST00000409457ENST00000250615AGAP1chr2

236403493

+AANATchr17

74458398

+
5CDS-intronENST00000409457ENST00000392492AGAP1chr2

236403493

+AANATchr17

74458398

+
Frame-shiftENST00000336665ENST00000250615AGAP1chr2

236403493

-AANATchr17

74464754

+
5CDS-5UTRENST00000336665ENST00000392492AGAP1chr2

236403493

-AANATchr17

74464754

+
Frame-shiftENST00000304032ENST00000250615AGAP1chr2

236403493

-AANATchr17

74464754

+
5CDS-5UTRENST00000304032ENST00000392492AGAP1chr2

236403493

-AANATchr17

74464754

+
intron-3CDSENST00000409538ENST00000250615AGAP1chr2

236403493

-AANATchr17

74464754

+
intron-5UTRENST00000409538ENST00000392492AGAP1chr2

236403493

-AANATchr17

74464754

+
intron-3CDSENST00000428334ENST00000250615AGAP1chr2

236403493

-AANATchr17

74464754

+
intron-5UTRENST00000428334ENST00000392492AGAP1chr2

236403493

-AANATchr17

74464754

+
Frame-shiftENST00000409457ENST00000250615AGAP1chr2

236403493

-AANATchr17

74464754

+
5CDS-5UTRENST00000409457ENST00000392492AGAP1chr2

236403493

-AANATchr17

74464754

+

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 AGAP1-AANAT


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)
AGAP1chr2236403493+AANATchr1774458397+4.94E-070.9999995
AGAP1chr2236403493+AANATchr1774458397+4.94E-070.9999995
AGAP1chr2236403493+AANATchr1774458397+4.94E-070.9999995
AGAP1chr2236403493+AANATchr1774458397+4.94E-070.9999995

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.

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Fusion Protein Features for AGAP1-AANAT


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
AGAP1

Q9UPQ3

AANAT

Q16613

FUNCTION: GTPase-activating protein for ARF1 and, to a lesser extent, ARF5. Directly and specifically regulates the adapter protein 3 (AP-3)-dependent trafficking of proteins in the endosomal-lysosomal system. {ECO:0000269|PubMed:12640130}.FUNCTION: Controls the night/day rhythm of melatonin production in the pineal gland. Catalyzes the N-acetylation of serotonin into N-acetylserotonin, the penultimate step in the synthesis of melatonin. {ECO:0000269|PubMed:11313340, ECO:0000305}.

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 AGAP1-AANAT


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 AGAP1-AANAT


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 AGAP1-AANAT


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 AGAP1-AANAT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAGAP1C0004352Autistic Disorder1CTD_human
TgeneAANATC0005587Depression, Bipolar1PSYGENET
TgeneAANATC0011570Mental Depression1PSYGENET
TgeneAANATC0011581Depressive disorder1PSYGENET
TgeneAANATC0393770Delayed Sleep Phase Syndrome1CTD_human
TgeneAANATC0494410Nonorganic Sleep Wake Cycle Disorders1CTD_human
TgeneAANATC0751758Advanced Sleep Phase Syndrome1CTD_human
TgeneAANATC0751759Non-24 Hour Sleep-Wake Disorder1CTD_human
TgeneAANATC0751760Shift-Work Sleep Disorder1CTD_human
TgeneAANATC0877792Sleep Disorders, Circadian Rhythm1CTD_human