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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:GRIN2A-MTHFD1L (FusionGDB2 ID:34681)

Fusion Gene Summary for GRIN2A-MTHFD1L

check button Fusion gene summary
Fusion gene informationFusion gene name: GRIN2A-MTHFD1L
Fusion gene ID: 34681
HgeneTgene
Gene symbol

GRIN2A

MTHFD1L

Gene ID

2903

25902

Gene nameglutamate ionotropic receptor NMDA type subunit 2Amethylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
SynonymsEPND|FESD|GluN2A|LKS|NMDAR2A|NR2AFTHFSDC1|MTC1THFS|dJ292B18.2
Cytomap

16p13.2

6q25.1

Type of geneprotein-codingprotein-coding
Descriptionglutamate 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 2Amonofunctional C1-tetrahydrofolate synthase, mitochondrial10-formyl-THF synthetaseformyltetrahydrofolate synthetase domain containing 1
Modification date2020031320200313
UniProtAcc

Q12879

Q6UB35

Ensembl transtripts involved in fusion geneENST00000396573, ENST00000562109, 
ENST00000535259, ENST00000404927, 
ENST00000330684, ENST00000396575, 
ENST00000566670, 
ENST00000367321, 
ENST00000367307, ENST00000478643, 
Fusion gene scores* DoF score8 X 7 X 5=28014 X 17 X 13=3094
# samples 727
** MAII scorelog2(7/280*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/3094*10)=-3.51844188439821
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GRIN2A [Title/Abstract] AND MTHFD1L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGRIN2A(10031816)-MTHFD1L(151413603), # samples:1
Anticipated loss of major functional domain due to fusion event.GRIN2A-MTHFD1L seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
GRIN2A-MTHFD1L seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
GRIN2A-MTHFD1L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
GRIN2A-MTHFD1L seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
GRIN2A-MTHFD1L seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
GRIN2A-MTHFD1L seems lost the major protein functional domain in Tgene partner, which is a essential 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
HgeneGRIN2A

GO:0045471

response to ethanol

18445116

HgeneGRIN2A

GO:0097553

calcium ion transmembrane import into cytosol

26875626

TgeneMTHFD1L

GO:0006760

folic acid-containing compound metabolic process

12937168

TgeneMTHFD1L

GO:0009257

10-formyltetrahydrofolate biosynthetic process

12937168

TgeneMTHFD1L

GO:0015942

formate metabolic process

16171773


check buttonFusion gene breakpoints across GRIN2A (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 MTHFD1L (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
ChimerDB4SARCTCGA-SI-A71O-01AGRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+


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Fusion Gene ORF analysis for GRIN2A-MTHFD1L

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-shiftENST00000396573ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000396573ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000396573ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
In-frameENST00000562109ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000562109ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000562109ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
Frame-shiftENST00000535259ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000535259ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000535259ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
Frame-shiftENST00000404927ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000404927ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000404927ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
Frame-shiftENST00000330684ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000330684ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000330684ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
In-frameENST00000396575ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000396575ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
5CDS-intronENST00000396575ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
intron-3CDSENST00000566670ENST00000367321GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
intron-intronENST00000566670ENST00000367307GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+
intron-intronENST00000566670ENST00000478643GRIN2Achr16

10031816

-MTHFD1Lchr6

151413603

+

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)
ENST00000562109GRIN2Achr1610031816-ENST00000367321MTHFD1Lchr6151413603+15111028211031336
ENST00000396575GRIN2Achr1610031816-ENST00000367321MTHFD1Lchr6151413603+1490100701010336

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
ENST00000562109ENST00000367321GRIN2Achr1610031816-MTHFD1Lchr6151413603+0.0018214750.9981785
ENST00000396575ENST00000367321GRIN2Achr1610031816-MTHFD1Lchr6151413603+0.0017146130.99828535

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Fusion Genomic Features for GRIN2A-MTHFD1L


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)
GRIN2Achr1610031815-MTHFD1Lchr6151413602+8.42E-070.99999917
GRIN2Achr1610031815-MTHFD1Lchr6151413602+8.42E-070.99999917

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 GRIN2A-MTHFD1L


check button Go to

FGviewer for the breakpoints of chr16:10031816-chr6:151413603

.
- 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
GRIN2A

Q12879

MTHFD1L

Q6UB35

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}.FUNCTION: May provide the missing metabolic reaction required to link the mitochondria and the cytoplasm in the mammalian model of one-carbon folate metabolism in embryonic an transformed cells complementing thus the enzymatic activities of MTHFD2. {ECO:0000250, ECO:0000269|PubMed:16171773}.

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
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST000003673070834_420276.0Compositional biasNote=Poly-Gly
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST0000036730708423_4300276.0Nucleotide bindingATP
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST000003673070831_3480276.0RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST0000036730708349_9780276.0RegionNote=Formyltetrahydrofolate synthetase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313601_620335.66666666666671465.0IntramembraneDiscontinuously helical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414601_620335.66666666666671465.0IntramembraneDiscontinuously helical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212601_620335.66666666666671465.0IntramembraneDiscontinuously helical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314601_620335.66666666666671282.0IntramembraneDiscontinuously helical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213601_620335.66666666666671282.0IntramembraneDiscontinuously helical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-3131462_1464335.66666666666671465.0MotifPDZ-binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-4141462_1464335.66666666666671465.0MotifPDZ-binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-2121462_1464335.66666666666671465.0MotifPDZ-binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-3141462_1464335.66666666666671282.0MotifPDZ-binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-2131462_1464335.66666666666671282.0MotifPDZ-binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313511_513335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313599_620335.66666666666671465.0RegionPore-forming
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313689_690335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313730_731335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414511_513335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414599_620335.66666666666671465.0RegionPore-forming
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414689_690335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414730_731335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212511_513335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212599_620335.66666666666671465.0RegionPore-forming
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212689_690335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212730_731335.66666666666671465.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314511_513335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314599_620335.66666666666671282.0RegionPore-forming
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314689_690335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314730_731335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213511_513335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213599_620335.66666666666671282.0RegionPore-forming
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213689_690335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213730_731335.66666666666671282.0RegionGlutamate binding
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-31323_555335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313577_600335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313621_625335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313646_816335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313838_1464335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-41423_555335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414577_600335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414621_625335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414646_816335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414838_1464335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-21223_555335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212577_600335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212621_625335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212646_816335.66666666666671465.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212838_1464335.66666666666671465.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-31423_555335.66666666666671282.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314577_600335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314621_625335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314646_816335.66666666666671282.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314838_1464335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-21323_555335.66666666666671282.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213577_600335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213621_625335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213646_816335.66666666666671282.0Topological domainExtracellular
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213838_1464335.66666666666671282.0Topological domainCytoplasmic
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313556_576335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313626_645335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000330684-313817_837335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414556_576335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414626_645335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396573-414817_837335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212556_576335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212626_645335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000396575-212817_837335.66666666666671465.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314556_576335.66666666666671282.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314626_645335.66666666666671282.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000404927-314817_837335.66666666666671282.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213556_576335.66666666666671282.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213626_645335.66666666666671282.0TransmembraneHelical
HgeneGRIN2Achr16:10031816chr6:151413603ENST00000562109-213817_837335.66666666666671282.0TransmembraneHelical
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST00000367321252834_42949.0932.6666666666666Compositional biasNote=Poly-Gly
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST000003673212528423_430949.0932.6666666666666Nucleotide bindingATP
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST00000367321252831_348949.0932.6666666666666RegionNote=Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
TgeneMTHFD1Lchr16:10031816chr6:151413603ENST000003673212528349_978949.0932.6666666666666RegionNote=Formyltetrahydrofolate synthetase


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Fusion Gene Sequence for GRIN2A-MTHFD1L


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.
>In-frame_ENST00000562109_ENST00000367321_TCGA-SI-A71O-01A_GRIN2A_chr16_10031816_-_MTHFD1L_chr6_151413603_length(transcript)=1511nt_BP=1028nt
CAGGGACCGTCAGTGGCGACTATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCG
AGCGCGGCGGCGGAGAAGGGTCCCCCCGCGCTAAATATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACA
CTGTGGGGCCCCGAGCAGGCGGCGGGGCTGCCCCTGGACGTGAACGTGGTAGCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATC
ACGCACGTGTGCGACCTCATGTCCGGGGCACGCATCCACGGCCTCGTGTTTGGGGACGACACGGACCAGGAGGCCGTAGCCCAGATGCTG
GATTTTATCTCCTCCCACACCTTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCGACGTCTACC
TTCTTCCAGTTTGGAGCGTCCATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTG
ACCACTATCTTCCCTGGCTACAGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTG
ATCACACTGGACACTTCCTTTGAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAA
GACGAGGCTGTTCTCATTCTGAGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGG
AACACGGAGCTCATCCCAAAAGAGTTTCCATCGGGACTCATTTCTGTCTCCTACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGG
GACGGCATTGGCATCCTAACCACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAGGCCAAGGCCAGCTGCTACGGGCAG
ATGGAGAGGCCAGAGGTCCCGATGCACACCTTGCACCCATGAGCACCATGCCAGGACTGCCCACCCGGCCCTGCTTTTATGACATAGATC
TTGATACCGAAACAGAACAAGTTAAAGGCTTGTTCTAAGTGGACAAGGCTCTCACAGGACCCGATGCAGACTCCTGAAACAGACTACTCT
TTGCCTTTTTGCTGCAGTTGGAGAAGAAACTGAATTTGAAAAATGTCTGTTATGCAATGCTGGAGACATGGTGAAATAGGCCAAAGATTT
CTTCTTCGTTCAAGATGAATTCTGTTCACAGTGGAGTATGGTGTTCGGCAAAAGGACCTCCACCAAGACTGAAAGAAACTAATTTATTTC
TGTTTCTGTGGAGTTTCCATTATTTCTACTGCTTACACTTTAGAATGTTTATTTTATGGGGACTAAGGGATTAGGAGTGTGAACTAAAAG

>In-frame_ENST00000562109_ENST00000367321_TCGA-SI-A71O-01A_GRIN2A_chr16_10031816_-_MTHFD1L_chr6_151413603_length(amino acids)=336AA_start in transcript=21_stop in transcript=1031
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLM
SGARIHGLVFGDDTDQEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPK

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>In-frame_ENST00000396575_ENST00000367321_TCGA-SI-A71O-01A_GRIN2A_chr16_10031816_-_MTHFD1L_chr6_151413603_length(transcript)=1490nt_BP=1007nt
ATGGGCAGAGTGGGCTATTGGACCCTGCTGGTGCTGCCGGCCCTTCTGGTCTGGCGCGGTCCGGCGCCGAGCGCGGCGGCGGAGAAGGGT
CCCCCCGCGCTAAATATTGCGGTGATGCTGGGTCACAGCCACGACGTGACAGAGCGCGAACTTCGAACACTGTGGGGCCCCGAGCAGGCG
GCGGGGCTGCCCCTGGACGTGAACGTGGTAGCTCTGCTGATGAACCGCACCGACCCCAAGAGCCTCATCACGCACGTGTGCGACCTCATG
TCCGGGGCACGCATCCACGGCCTCGTGTTTGGGGACGACACGGACCAGGAGGCCGTAGCCCAGATGCTGGATTTTATCTCCTCCCACACC
TTCGTCCCCATCTTGGGCATTCATGGGGGCGCATCTATGATCATGGCTGACAAGGATCCGACGTCTACCTTCTTCCAGTTTGGAGCGTCC
ATCCAGCAGCAAGCCACGGTCATGCTGAAGATCATGCAGGATTATGACTGGCATGTCTTCTCCCTGGTGACCACTATCTTCCCTGGCTAC
AGGGAATTCATCAGCTTCGTCAAGACCACAGTGGACAACAGCTTTGTGGGCTGGGACATGCAGAATGTGATCACACTGGACACTTCCTTT
GAGGATGCAAAGACACAAGTCCAGCTGAAGAAGATCCACTCTTCTGTCATCTTGCTCTACTGTTCCAAAGACGAGGCTGTTCTCATTCTG
AGTGAGGCCCGCTCCCTTGGCCTCACCGGGTATGATTTCTTCTGGATTGTCCCCAGCTTGGTCTCTGGGAACACGGAGCTCATCCCAAAA
GAGTTTCCATCGGGACTCATTTCTGTCTCCTACGATGACTGGGACTACAGCCTGGAGGCGAGAGTGAGGGACGGCATTGGCATCCTAACC
ACCGCTGCATCTTCTATGCTGGAGAAGTTCTCCTACATCCCCGAGGCCAAGGCCAGCTGCTACGGGCAGATGGAGAGGCCAGAGGTCCCG
ATGCACACCTTGCACCCATGAGCACCATGCCAGGACTGCCCACCCGGCCCTGCTTTTATGACATAGATCTTGATACCGAAACAGAACAAG
TTAAAGGCTTGTTCTAAGTGGACAAGGCTCTCACAGGACCCGATGCAGACTCCTGAAACAGACTACTCTTTGCCTTTTTGCTGCAGTTGG
AGAAGAAACTGAATTTGAAAAATGTCTGTTATGCAATGCTGGAGACATGGTGAAATAGGCCAAAGATTTCTTCTTCGTTCAAGATGAATT
CTGTTCACAGTGGAGTATGGTGTTCGGCAAAAGGACCTCCACCAAGACTGAAAGAAACTAATTTATTTCTGTTTCTGTGGAGTTTCCATT
ATTTCTACTGCTTACACTTTAGAATGTTTATTTTATGGGGACTAAGGGATTAGGAGTGTGAACTAAAAGGTAACATTTTCCACTCTCAAG

>In-frame_ENST00000396575_ENST00000367321_TCGA-SI-A71O-01A_GRIN2A_chr16_10031816_-_MTHFD1L_chr6_151413603_length(amino acids)=336AA_start in transcript=0_stop in transcript=1010
MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQAAGLPLDVNVVALLMNRTDPKSLITHVCDLM
SGARIHGLVFGDDTDQEAVAQMLDFISSHTFVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLILSEARSLGLTGYDFFWIVPSLVSGNTELIPK

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Fusion Gene PPI Analysis for GRIN2A-MTHFD1L


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 GRIN2A-MTHFD1L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGRIN2AQ12879DB00454MeperidineAntagonistSmall moleculeApproved
HgeneGRIN2AQ12879DB00454MeperidineAntagonistSmall moleculeApproved
HgeneGRIN2AQ12879DB00949FelbamateAntagonistSmall moleculeApproved
HgeneGRIN2AQ12879DB00949FelbamateAntagonistSmall moleculeApproved
HgeneGRIN2AQ12879DB06151AcetylcysteineActivatorSmall moleculeApproved|Investigational
HgeneGRIN2AQ12879DB06151AcetylcysteineActivatorSmall moleculeApproved|Investigational
HgeneGRIN2AQ12879DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
HgeneGRIN2AQ12879DB00142Glutamic acidSmall moleculeApproved|Nutraceutical
HgeneGRIN2AQ12879DB00145GlycineAntagonistSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneGRIN2AQ12879DB00145GlycineAntagonistSmall moleculeApproved|Nutraceutical|Vet_approved
HgeneGRIN2AQ12879DB01159HalothaneAntagonistSmall moleculeApproved|Vet_approved
HgeneGRIN2AQ12879DB01159HalothaneAntagonistSmall moleculeApproved|Vet_approved

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Related Diseases for GRIN2A-MTHFD1L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGRIN2AC3806402EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION12CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneGRIN2AC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneGRIN2AC0036341Schizophrenia5PSYGENET
HgeneGRIN2AC0001973Alcoholic Intoxication, Chronic4PSYGENET
HgeneGRIN2AC0011570Mental Depression4PSYGENET
HgeneGRIN2AC0011581Depressive disorder4PSYGENET
HgeneGRIN2AC0282512Landau-Kleffner Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneGRIN2AC0525045Mood Disorders3PSYGENET
HgeneGRIN2AC0014544Epilepsy2CTD_human
HgeneGRIN2AC0086237Epilepsy, Cryptogenic2CTD_human
HgeneGRIN2AC0236018Aura2CTD_human
HgeneGRIN2AC0751111Awakening Epilepsy2CTD_human
HgeneGRIN2AC0004352Autistic Disorder1CTD_human
HgeneGRIN2AC0005587Depression, Bipolar1CTD_human
HgeneGRIN2AC0009090Cluttering1CTD_human
HgeneGRIN2AC0009402Colorectal Carcinoma1CTD_human
HgeneGRIN2AC0009404Colorectal Neoplasms1CTD_human
HgeneGRIN2AC0023012Language Delay1CTD_human
HgeneGRIN2AC0023014Language Development Disorders1CTD_human
HgeneGRIN2AC0024713Manic Disorder1CTD_human
HgeneGRIN2AC0025202melanoma1CTD_human
HgeneGRIN2AC0026552Morphine Dependence1CTD_human
HgeneGRIN2AC0037822Speech Disorders1CTD_human
HgeneGRIN2AC0038587Substance Withdrawal Syndrome1CTD_human
HgeneGRIN2AC0086189Drug Withdrawal Symptoms1CTD_human
HgeneGRIN2AC0087169Withdrawal Symptoms1CTD_human
HgeneGRIN2AC0233726Aprosodia1CTD_human
HgeneGRIN2AC0241210Speech Delay1CTD_human
HgeneGRIN2AC0338831Manic1CTD_human
HgeneGRIN2AC0376532Epilepsy, Rolandic1CTD_human;ORPHANET
HgeneGRIN2AC0454655Semantic-Pragmatic Disorder1CTD_human
HgeneGRIN2AC0600272Morphine Abuse1CTD_human
HgeneGRIN2AC0751257Auditory Processing Disorder, Central1CTD_human
HgeneGRIN2AC0751512Dysglossia1CTD_human
HgeneGRIN2AC0751513Rhinolalia1CTD_human
HgeneGRIN2AC0751514Verbal Fluency Disorders1CTD_human
HgeneGRIN2AC2363129Benign Rolandic Epilepsy1CTD_human;ORPHANET
HgeneGRIN2AC3495145Dyslalia1CTD_human
HgeneGRIN2AC4749281Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation1ORPHANET