FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:CLEC16A-GRIN2A (FusionGDB2 ID:17100)

Fusion Gene Summary for CLEC16A-GRIN2A

check button Fusion gene summary
Fusion gene informationFusion gene name: CLEC16A-GRIN2A
Fusion gene ID: 17100
HgeneTgene
Gene symbol

CLEC16A

GRIN2A

Gene ID

23274

2903

Gene nameC-type lectin domain containing 16Aglutamate ionotropic receptor NMDA type subunit 2A
SynonymsGop-1|KIAA0350EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A
Cytomap

16p13.13

16p13.2

Type of geneprotein-codingprotein-coding
Descriptionprotein CLEC16AC-type lectin domain family 16 member Aglutamate receptor ionotropic, NMDA 2AN-methyl D-aspartate receptor subtype 2AN-methyl-D-aspartate receptor channel, subunit epsilon-1N-methyl-D-aspartate receptor subunit 2Aglutamate receptor, ionotropic, N-methyl D-aspartate 2A
Modification date2020031320200313
UniProtAcc

Q2KHT3

Q12879

Ensembl transtripts involved in fusion geneENST00000409790, ENST00000409552, 
ENST00000465491, ENST00000381822, 
ENST00000396573, ENST00000562109, 
ENST00000535259, ENST00000404927, 
ENST00000330684, ENST00000396575, 
ENST00000566670, 
Fusion gene scores* DoF score13 X 9 X 9=10538 X 7 X 5=280
# samples 168
** MAII scorelog2(16/1053*10)=-2.71836162613835
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CLEC16A [Title/Abstract] AND GRIN2A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCLEC16A(11154879)-GRIN2A(10032408), # samples:2
Anticipated loss of major functional domain due to fusion event.CLEC16A-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
CLEC16A-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CLEC16A-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
CLEC16A-GRIN2A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneGRIN2A

GO:0045471

response to ethanol

18445116

TgeneGRIN2A

GO:0097553

calcium ion transmembrane import into cytosol

26875626


check buttonFusion gene breakpoints across CLEC16A (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 GRIN2A (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
ChimerDB4BRCATCGA-S3-AA0Z-01ACLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
ChimerDB4BRCATCGA-S3-AA0Z-01ACLEC16Achr16

11154879

-GRIN2Achr16

10032408

-


Top

Fusion Gene ORF analysis for CLEC16A-GRIN2A

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
Frame-shiftENST00000409790ENST00000396573CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
Frame-shiftENST00000409790ENST00000562109CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409790ENST00000535259CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409790ENST00000404927CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409790ENST00000330684CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409790ENST00000396575CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409790ENST00000566670CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
Frame-shiftENST00000409552ENST00000396573CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
Frame-shiftENST00000409552ENST00000562109CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409552ENST00000535259CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409552ENST00000404927CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409552ENST00000330684CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409552ENST00000396575CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
5CDS-5UTRENST00000409552ENST00000566670CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-3CDSENST00000465491ENST00000396573CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-3CDSENST00000465491ENST00000562109CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-5UTRENST00000465491ENST00000535259CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-5UTRENST00000465491ENST00000404927CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-5UTRENST00000465491ENST00000330684CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-5UTRENST00000465491ENST00000396575CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
3UTR-5UTRENST00000465491ENST00000566670CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-3CDSENST00000381822ENST00000396573CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-3CDSENST00000381822ENST00000562109CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-5UTRENST00000381822ENST00000535259CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-5UTRENST00000381822ENST00000404927CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-5UTRENST00000381822ENST00000330684CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-5UTRENST00000381822ENST00000396575CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-
intron-5UTRENST00000381822ENST00000566670CLEC16Achr16

11154879

+GRIN2Achr16

10032408

-

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

Top

Fusion Genomic Features for CLEC16A-GRIN2A


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)

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.

Top

Fusion Protein Features for CLEC16A-GRIN2A


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
CLEC16A

Q2KHT3

GRIN2A

Q12879

FUNCTION: Regulator of mitophagy through the upstream regulation of the RNF41/NRDP1-PRKN pathway. Mitophagy is a selective form of autophagy necessary for mitochondrial quality control. The RNF41/NRDP1-PRKN pathway regulates autophagosome-lysosome fusion during late mitophagy. May protect RNF41/NRDP1 from proteosomal degradation, RNF41/NRDP1 which regulates proteosomal degradation of PRKN. Plays a key role in beta cells functions by regulating mitophagy/autophagy and mitochondrial health. {ECO:0000269|PubMed:24949970}.FUNCTION: Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:8768735, PubMed:26919761, PubMed:26875626, PubMed:28105280). Sensitivity to glutamate and channel kinetics depend on the subunit composition; channels containing GRIN1 and GRIN2A have lower sensitivity to glutamate and faster deactivation kinetics than channels formed by GRIN1 and GRIN2B (PubMed:26919761, PubMed:26875626). Contributes to the slow phase of excitatory postsynaptic current, long-term synaptic potentiation, and learning (By similarity). {ECO:0000250|UniProtKB:P35436, ECO:0000250|UniProtKB:Q00959, ECO:0000269|PubMed:26875626, ECO:0000269|PubMed:26919761, ECO:0000269|PubMed:28105280, ECO:0000269|PubMed:8768735}.

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


Top

Fusion Gene Sequence for CLEC16A-GRIN2A


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.

Top

Fusion Gene PPI Analysis for CLEC16A-GRIN2A


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


Top

Related Drugs for CLEC16A-GRIN2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGRIN2AQ12879DB00454MeperidineAntagonistSmall moleculeApproved
TgeneGRIN2AQ12879DB00454MeperidineAntagonistSmall moleculeApproved
TgeneGRIN2AQ12879DB00949FelbamateAntagonistSmall moleculeApproved
TgeneGRIN2AQ12879DB00949FelbamateAntagonistSmall moleculeApproved
TgeneGRIN2AQ12879DB06151AcetylcysteineActivatorSmall moleculeApproved|Investigational
TgeneGRIN2AQ12879DB06151AcetylcysteineActivatorSmall moleculeApproved|Investigational
TgeneGRIN2AQ12879DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
TgeneGRIN2AQ12879DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
TgeneGRIN2AQ12879DB00145GlycineAntagonistSmall moleculeApproved|Nutraceutical|Vet_approved
TgeneGRIN2AQ12879DB00145GlycineAntagonistSmall moleculeApproved|Nutraceutical|Vet_approved
TgeneGRIN2AQ12879DB01159HalothaneAntagonistSmall moleculeApproved|Vet_approved
TgeneGRIN2AQ12879DB01159HalothaneAntagonistSmall moleculeApproved|Vet_approved

Top

Related Diseases for CLEC16A-GRIN2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCLEC16AC0011854Diabetes Mellitus, Insulin-Dependent2CTD_human
HgeneCLEC16AC0026769Multiple Sclerosis2CTD_human
HgeneCLEC16AC0162538Immunoglobulin A deficiency (disorder)2CTD_human
HgeneCLEC16AC0205734Diabetes, Autoimmune2CTD_human
HgeneCLEC16AC0342302Brittle diabetes2CTD_human
HgeneCLEC16AC0751324Multiple Sclerosis, Acute Fulminating2CTD_human
HgeneCLEC16AC3837958Diabetes Mellitus, Ketosis-Prone2CTD_human
HgeneCLEC16AC4554117Diabetes Mellitus, Sudden-Onset2CTD_human
HgeneCLEC16AC0001403Addison Disease1CTD_human
HgeneCLEC16AC0008312Primary biliary cirrhosis1CTD_human
HgeneCLEC16AC0023892Biliary cirrhosis1CTD_human
HgeneCLEC16AC0024141Lupus Erythematosus, Systemic1CTD_human
HgeneCLEC16AC0238065Secondary Biliary Cholangitis1CTD_human
HgeneCLEC16AC0242380Libman-Sacks Disease1CTD_human
HgeneCLEC16AC4551595Biliary Cirrhosis, Primary, 11CTD_human
TgeneGRIN2AC3806402EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION12CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneGRIN2AC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneGRIN2AC0036341Schizophrenia5PSYGENET
TgeneGRIN2AC0001973Alcoholic Intoxication, Chronic4PSYGENET
TgeneGRIN2AC0011570Mental Depression4PSYGENET
TgeneGRIN2AC0011581Depressive disorder4PSYGENET
TgeneGRIN2AC0282512Landau-Kleffner Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneGRIN2AC0525045Mood Disorders3PSYGENET
TgeneGRIN2AC0014544Epilepsy2CTD_human
TgeneGRIN2AC0086237Epilepsy, Cryptogenic2CTD_human
TgeneGRIN2AC0236018Aura2CTD_human
TgeneGRIN2AC0751111Awakening Epilepsy2CTD_human
TgeneGRIN2AC0004352Autistic Disorder1CTD_human
TgeneGRIN2AC0005587Depression, Bipolar1CTD_human
TgeneGRIN2AC0009090Cluttering1CTD_human
TgeneGRIN2AC0009402Colorectal Carcinoma1CTD_human
TgeneGRIN2AC0009404Colorectal Neoplasms1CTD_human
TgeneGRIN2AC0023012Language Delay1CTD_human
TgeneGRIN2AC0023014Language Development Disorders1CTD_human
TgeneGRIN2AC0024713Manic Disorder1CTD_human
TgeneGRIN2AC0025202melanoma1CTD_human
TgeneGRIN2AC0026552Morphine Dependence1CTD_human
TgeneGRIN2AC0037822Speech Disorders1CTD_human
TgeneGRIN2AC0038587Substance Withdrawal Syndrome1CTD_human
TgeneGRIN2AC0086189Drug Withdrawal Symptoms1CTD_human
TgeneGRIN2AC0087169Withdrawal Symptoms1CTD_human
TgeneGRIN2AC0233726Aprosodia1CTD_human
TgeneGRIN2AC0241210Speech Delay1CTD_human
TgeneGRIN2AC0338831Manic1CTD_human
TgeneGRIN2AC0376532Epilepsy, Rolandic1CTD_human;ORPHANET
TgeneGRIN2AC0454655Semantic-Pragmatic Disorder1CTD_human
TgeneGRIN2AC0600272Morphine Abuse1CTD_human
TgeneGRIN2AC0751257Auditory Processing Disorder, Central1CTD_human
TgeneGRIN2AC0751512Dysglossia1CTD_human
TgeneGRIN2AC0751513Rhinolalia1CTD_human
TgeneGRIN2AC0751514Verbal Fluency Disorders1CTD_human
TgeneGRIN2AC2363129Benign Rolandic Epilepsy1CTD_human;ORPHANET
TgeneGRIN2AC3495145Dyslalia1CTD_human
TgeneGRIN2AC4749281Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1ORPHANET