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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:CNNM2-ABCC8 (FusionGDB2 ID:HG54805TG6833)

Fusion Gene Summary for CNNM2-ABCC8

check button Fusion gene summary
Fusion gene informationFusion gene name: CNNM2-ABCC8
Fusion gene ID: hg54805tg6833
HgeneTgene
Gene symbol

CNNM2

ABCC8

Gene ID

54805

6833

Gene namecyclin and CBS domain divalent metal cation transport mediator 2ATP binding cassette subfamily C member 8
SynonymsACDP2|HOMG6|HOMGSMRABC36|HHF1|HI|HRINS|MRP8|PHHI|SUR|SUR1|SUR1delta2|TNDM2
Cytomap('CNNM2')('ABCC8')

10q24.32

11p15.1

Type of geneprotein-codingprotein-coding
Descriptionmetal transporter CNNM2ancient conserved domain-containing protein 2cyclin M2ATP-binding cassette sub-family C member 8ATP-binding cassette transporter sub-family C member 8ATP-binding cassette, sub-family C (CFTR/MRP), member 8sulfonylurea receptor (hyperinsulinemia)sulfonylurea receptor 1
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000369878, ENST00000433628, 
ENST00000369875, ENST00000475511, 
Fusion gene scores* DoF score5 X 2 X 3=306 X 6 X 3=108
# samples 56
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CNNM2 [Title/Abstract] AND ABCC8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCNNM2(104816638)-ABCC8(17481383), # 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


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


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Fusion Gene ORF analysis for CNNM2-ABCC8

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

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 CNNM2-ABCC8


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 CNNM2-ABCC8


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/:104816638/:17481383)
- 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 CNNM2-ABCC8


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 CNNM2-ABCC8


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 CNNM2-ABCC8


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 CNNM2-ABCC8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCNNM2C0036341Schizophrenia2PSYGENET
HgeneCNNM2C3151295HYPOMAGNESEMIA 6, RENAL2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCNNM2C4225333HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION2CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCNNM2C0003811Cardiac Arrhythmia1CTD_human
HgeneCNNM2C0022333Jacksonian Seizure1CTD_human
HgeneCNNM2C0022658Kidney Diseases1CTD_human
HgeneCNNM2C0036572Seizures1CTD_human
HgeneCNNM2C0037768Spasmophilia1CTD_human
HgeneCNNM2C0039621Tetany1CTD_human
HgeneCNNM2C0149958Complex partial seizures1CTD_human
HgeneCNNM2C0234533Generalized seizures1CTD_human
HgeneCNNM2C0234535Clonic Seizures1CTD_human
HgeneCNNM2C0270224Tetany, Neonatal1CTD_human
HgeneCNNM2C0270824Visual seizure1CTD_human
HgeneCNNM2C0270844Tonic Seizures1CTD_human
HgeneCNNM2C0270846Epileptic drop attack1CTD_human
HgeneCNNM2C0422850Seizures, Somatosensory1CTD_human
HgeneCNNM2C0422852Seizures, Auditory1CTD_human
HgeneCNNM2C0422853Olfactory seizure1CTD_human
HgeneCNNM2C0422854Gustatory seizure1CTD_human
HgeneCNNM2C0422855Vertiginous seizure1CTD_human
HgeneCNNM2C0494475Tonic - clonic seizures1CTD_human
HgeneCNNM2C0751056Non-epileptic convulsion1CTD_human
HgeneCNNM2C0751110Single Seizure1CTD_human
HgeneCNNM2C0751123Atonic Absence Seizures1CTD_human
HgeneCNNM2C0751494Convulsive Seizures1CTD_human
HgeneCNNM2C0751495Seizures, Focal1CTD_human
HgeneCNNM2C0751496Seizures, Sensory1CTD_human
HgeneCNNM2C0917812Tetanilla1CTD_human
HgeneCNNM2C3495874Nonepileptic Seizures1CTD_human
HgeneCNNM2C4048158Convulsions1CTD_human
HgeneCNNM2C4316903Absence Seizures1CTD_human
HgeneCNNM2C4317109Epileptic Seizures1CTD_human
HgeneCNNM2C4317123Myoclonic Seizures1CTD_human
HgeneCNNM2C4505436Generalized Absence Seizures1CTD_human
HgeneCNNM2C4510731Familial primary hypomagnesemia with normocalciuria and normocalcemia1ORPHANET
TgeneC2931832Hyperinsulinemic hypoglycemia, familial, 121CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC1833104DIABETES MELLITUS, PERMANENT NEONATAL7CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1832386Diabetes Mellitus, Transient Neonatal, 13ORPHANET
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human;GENOMICS_ENGLAND
TgeneC1853564Developmental Delay, Epilepsy, and Neonatal Diabetes2ORPHANET
TgeneC2931833Hyperinsulinemic hypoglycemia, familial, 22CTD_human
TgeneC3888018Congenital Hyperinsulinism2CTD_human
TgeneC4274080Autosomal dominant hyperinsulinism due to SUR1 deficiency2ORPHANET
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
TgeneC0205734Diabetes, Autoimmune1CTD_human
TgeneC0271714Hypoglycemia, leucine-induced1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0342276Maturity onset diabetes mellitus in young1ORPHANET
TgeneC0342302Brittle diabetes1CTD_human
TgeneC1835887DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
TgeneC4554117Diabetes Mellitus, Sudden-Onset1CTD_human