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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:ADCY2-SAMM50 (FusionGDB2 ID:HG108TG25813)

Fusion Gene Summary for ADCY2-SAMM50

check button Fusion gene summary
Fusion gene informationFusion gene name: ADCY2-SAMM50
Fusion gene ID: hg108tg25813
HgeneTgene
Gene symbol

ADCY2

SAMM50

Gene ID

108

25813

Gene nameadenylate cyclase 2SAMM50 sorting and assembly machinery component
SynonymsAC2|HBAC2CGI-51|OMP85|SAM50|TOB55|TRG-3|YNL026W
Cytomap('ADCY2')('SAMM50')

5p15.31

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionadenylate cyclase type 23',5'-cyclic AMP synthetaseATP pyrophosphate-lyase 2adenylate cyclase 2 (brain)adenylate cyclase IIadenylate cyclase type IIadenylyl cyclase 2type II adenylate cyclasesorting and assembly machinery component 50 homologsorting and assembly machinery 50kDatransformation-related gene 3 protein
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000338316, ENST00000513693, 
ENST00000537121, 
Fusion gene scores* DoF score11 X 9 X 6=59411 X 12 X 5=660
# samples 1013
** MAII scorelog2(10/594*10)=-2.57046293102604
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADCY2 [Title/Abstract] AND SAMM50 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADCY2(7414883)-SAMM50(44359166), # samples:2
Anticipated loss of major functional domain due to fusion event.ADCY2-SAMM50 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.
ADCY2-SAMM50 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.
ADCY2-SAMM50 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.
ADCY2-SAMM50 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
TgeneSAMM50

GO:0045040

protein import into mitochondrial outer membrane

15644312


check buttonFusion gene breakpoints across ADCY2 (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 SAMM50 (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
ChimerDB4SKCMTCGA-FS-A4F4-06AADCY2chr5

7414883

+SAMM50chr22

44359166

+


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Fusion Gene ORF analysis for ADCY2-SAMM50

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-5UTRENST00000338316ENST00000396202ADCY2chr5

7414883

+SAMM50chr22

44359166

+
5CDS-intronENST00000338316ENST00000493161ADCY2chr5

7414883

+SAMM50chr22

44359166

+
In-frameENST00000338316ENST00000350028ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-3CDSENST00000513693ENST00000350028ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-3CDSENST00000537121ENST00000350028ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-5UTRENST00000513693ENST00000396202ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-5UTRENST00000537121ENST00000396202ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-intronENST00000513693ENST00000493161ADCY2chr5

7414883

+SAMM50chr22

44359166

+
intron-intronENST00000537121ENST00000493161ADCY2chr5

7414883

+SAMM50chr22

44359166

+

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)
ENST00000338316ADCY2chr57414883+ENST00000350028SAMM50chr2244359166+2036497891885598

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
ENST00000338316ENST00000350028ADCY2chr57414883+SAMM50chr2244359166+0.003820180.9961798

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Fusion Genomic Features for ADCY2-SAMM50


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)
ADCY2chr57414883+SAMM50chr2244359165+5.01E-101
ADCY2chr57414883+SAMM50chr2244359165+5.01E-101

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

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 ADCY2-SAMM50


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/chr5:7414883/chr22:44359166)
- 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
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+2251_451361092.0Topological domainCytoplasmic
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225108_1281361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+22546_661361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+22576_961361092.0TransmembraneHelical
TgeneSAMM50chr5:7414883chr22:44359166ENST0000035002801545_1257470.0DomainPOTRA

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+2251019_10211361092.0Nucleotide bindingATP
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+2251026_10301361092.0Nucleotide bindingATP
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225295_3001361092.0Nucleotide bindingATP
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225337_3391361092.0Nucleotide bindingATP
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225208_6011361092.0Topological domainCytoplasmic
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225822_10911361092.0Topological domainCytoplasmic
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225133_1531361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225159_1791361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225187_2071361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225602_6221361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225628_6521361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225680_7011361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225734_7551361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225763_7801361092.0TransmembraneHelical
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225801_8211361092.0TransmembraneHelical


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Fusion Gene Sequence for ADCY2-SAMM50


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.
>2225_2225_1_ADCY2-SAMM50_ADCY2_chr5_7414883_ENST00000338316_SAMM50_chr22_44359166_ENST00000350028_length(transcript)=2036nt_BP=497nt
AGGCGGCGCGGGGGTGGGACGCGGGCGGCCGCGGCGAGCGGCGCTGCCCGGGCCGGGCGCGCACGGCGGGCGCCCTGTGAGCGGCCCCGA
TGTGGCAGGAGGCGATGCGGCGCCGCCGCTACCTGCGGGACCGCTCCGAGGAGGCGGCGGGCGGCGGAGACGGGCTGCCGCGGTCCCGGG
ACTGGCTCTACGAGTCCTACTACTGCATGAGCCAGCAGCACCCGCTCATCGTCTTCCTGCTGCTCATCGTCATGGGCTCCTGCCTCGCCC
TGCTCGCCGTCTTCTTCGCGCTCGGGCTGGAAGTTGAAGACCATGTGGCGTTTCTAATAACAGTTCCAACTGCCCTGGCGATTTTCTTTG
CGATATTTATCCTGGTCTGCATCGAGTCTGTGTTTAAGAAGCTGCTGCGCCTCTTCTCGTTGGTGATATGGATATGCCTTGTTGCCATGG
GATACCTGTTCATGTGTTTTGGAGGCACCGTCTCTCCCTGGGACCAGAGTTTGGAGCCTCTTCCATCAAGTGGACCTGATTTTGGAGGAT
TAGGAGAAGAAGCTGAATTTGTTGAAGTTGAGCCTGAAGCTAAACAGGAAATTCTTGAAAACAAAGATGTGGTTGTTCAACATGTTCATT
TTGATGGACTTGGAAGGACTAAAGATGATATCATCATTTGTGAAATTGGAGATGTTTTCAAGGCCAAAAACCTAATTGAGGTAATGCGGA
AATCTCATGAAGCCCGTGAAAAATTGCTCCGTCTTGGAATTTTTAGACAAGTGGATGTTTTGATTGACACATGTCAAGGTGATGACGCAC
TTCCAAATGGGTTAGACGTTACCTTTGAAGTAACTGAATTGAGGAGATTAACGGGCAGTTATAACACCATGGTTGGAAACAATGAAGGCA
GTATGGTACTTGGCCTCAAGCTTCCTAATCTTCTTGGTCGTGCAGAAAAGGTGACCTTTCAGTTTTCCTATGGAACAAAAGAAACTTCGT
ATGGCCTGTCCTTCTTCAAACCACGGCCCGGAAACTTCGAAAGAAATTTCTCTGTAAACTTATATAAAGTTACTGGACAGTTCCCTTGGA
GCTCACTGCGGGAGACGGACAGAGGAATGTCAGCTGAGTACAGTTTTCCCATATGGAAGACCAGCCACACTGTCAAGTGGGAAGGCGTAT
GGCGAGAACTGGGCTGCCTCTCAAGGACGGCGTCATTTGCTGTTCGAAAAGAAAGCGGACATTCACTGAAATCATCTCTTTCGCACGCCA
TGGTCATCGATTCTCGGAATTCTTCCATCTTACCAAGGAGAGGTGCTTTGCTGAAAGTTAACCAGGAACTGGCAGGCTACACTGGCGGGG
ATGTGAGCTTCATCAAAGAAGATTTTGAACTTCAGTTGAACAAGCAACTCATATTTGATTCAGTTTTTTCAGCGTCTTTCTGGGGCGGAA
TGTTGGTACCCATTGGTGATAAGCCGTCAAGCATTGCTGATAGGTTTTACCTTGGGGGACCCACAAGCATCCGCGGATTCAGCATGCACA
GCATCGGGCCACAGAGCGAAGGAGACTACCTAGGTGGAGAAGCGTACTGGGCCGGCGGCCTGCACCTCTACACCCCATTACCTTTCCGGC
CAGGCCAGGGTGGCTTTGGAGAACTTTTCCGAACACACTTCTTTCTCAACGCAGGAAACCTCTGCAACCTCAACTATGGGGAGGGCCCCA
AAGCTCATATTCGTAAGCTGGCTGAGTGCATCCGCTGGTCGTACGGGGCCGGGATTGTCCTCAGGCTTGGCAACATCGCTCGGTTGGAAC
TTAATTACTGCGTCCCCATGGGAGTACAGACAGGCGACAGGATATGTGATGGCGTCCAGTTTGGAGCTGGGATAAGGTTCCTGTAGCCGA
CACCCCTACAGGAGAAGCTCTGGGACTGGGGCAGCAGCAAGGCGCCCATGCCACACACCGTCTCTCGAGGAAACGCGGTTCAGCGATTCT

>2225_2225_1_ADCY2-SAMM50_ADCY2_chr5_7414883_ENST00000338316_SAMM50_chr22_44359166_ENST00000350028_length(amino acids)=598AA_BP=135
MWQEAMRRRRYLRDRSEEAAGGGDGLPRSRDWLYESYYCMSQQHPLIVFLLLIVMGSCLALLAVFFALGLEVEDHVAFLITVPTALAIFF
AIFILVCIESVFKKLLRLFSLVIWICLVAMGYLFMCFGGTVSPWDQSLEPLPSSGPDFGGLGEEAEFVEVEPEAKQEILENKDVVVQHVH
FDGLGRTKDDIIICEIGDVFKAKNLIEVMRKSHEAREKLLRLGIFRQVDVLIDTCQGDDALPNGLDVTFEVTELRRLTGSYNTMVGNNEG
SMVLGLKLPNLLGRAEKVTFQFSYGTKETSYGLSFFKPRPGNFERNFSVNLYKVTGQFPWSSLRETDRGMSAEYSFPIWKTSHTVKWEGV
WRELGCLSRTASFAVRKESGHSLKSSLSHAMVIDSRNSSILPRRGALLKVNQELAGYTGGDVSFIKEDFELQLNKQLIFDSVFSASFWGG
MLVPIGDKPSSIADRFYLGGPTSIRGFSMHSIGPQSEGDYLGGEAYWAGGLHLYTPLPFRPGQGGFGELFRTHFFLNAGNLCNLNYGEGP

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

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Fusion Gene PPI Analysis for ADCY2-SAMM50


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
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225905_922136.01092.0GNAS
HgeneADCY2chr5:7414883chr22:44359166ENST00000338316+225990_993136.01092.0GNAS


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 ADCY2-SAMM50


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 ADCY2-SAMM50


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADCY2C0005586Bipolar Disorder2CTD_human;PSYGENET
HgeneADCY2C0004096Asthma1CTD_human
HgeneADCY2C0005587Depression, Bipolar1CTD_human
HgeneADCY2C0024713Manic Disorder1CTD_human
HgeneADCY2C0338831Manic1CTD_human