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Editing gene: GAMT (CAeditome ID:2593)

Gene summary for GAMT

Gene summary

Gene information	Gene symbol	GAMT
	Gene ID	2593
	Gene name	guanidinoacetate N-methyltransferase
	Synonyms	CCDS2\|HEL-S-20\|PIG2\|TP53I2
	Cytomap	19p13.3
	Type of gene	protein-coding
	Description	guanidinoacetate N-methyltransferaseepididymis secretory protein Li 20
	Modification date	20210518
	UniProtAcc	Q14353
	Context

Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Gene	GO ID	GO term	PubMed ID
GAMT	GO:0006601	Guanidinoacetate N-methyltransferase	8651275

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RNA A-to-I events for GAMT

RNA A-to-I editing events across TCGA 33 cancers data sets based on Ensembl gene isoform structure.

RNA editing frequencies across 33 cancers of gene: ENSG00000130005.10

RNA A-to-I editing events in Cancer.

CAediting_1270958(1398158, -), CAediting_1270959(1398187, -), CAediting_1270960(1398226, -), CAediting_1270961(1398235, -), CAediting_1270962(1398236, -), CAediting_1270963(1398266, -), CAediting_1270964(1398301, -), CAediting_1270965(1398349, -), CAediting_1270966(1398355, -), CAediting_1270967(1398362, -), CAediting_1270968(1398377, -), CAediting_1270969(1398431, -), CAediting_1270970(1398439, -), CAediting_1270971(1398463, -), CAediting_1270972(1398521, -), CAediting_1270973(1398564, -), CAediting_1270974(1398610, -), CAediting_1270975(1398686, -), CAediting_1270976(1398701, -), CAediting_1270977(1398711, -),

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RNA editing positional annotations for GAMT using Annovar

Protein coding RNA editing(s).

CAeditome ID	Position	Variant type	ENST	NTchange	AAchange	SIFT_score	Polyphen2_HVAR_score	PROVEAN_pred
CAediting_1270975	chr19_1398686_-	nonsynonymous SNV	ENST00000447102.6	c.A800G	p.Q267R	D	.	N
CAediting_1270975	chr19_1398686_-	nonsynonymous SNV	ENST00000591788.2	c.A317G	p.Q106R	D	.	N
CAediting_1270977	chr19_1398711_-	nonsynonymous SNV	ENST00000447102.6	c.A775G	p.S259G	D	.	N
CAediting_1270977	chr19_1398711_-	nonsynonymous SNV	ENST00000591788.2	c.A292G	p.S98G	D	.	N

Gene structure information of RNA editing(s).

CAeditome ID	Position	Variant type
CAediting_1270958	chr19_1398158_-	intronic
CAediting_1270959	chr19_1398187_-	intronic
CAediting_1270960	chr19_1398226_-	intronic
CAediting_1270961	chr19_1398235_-	intronic
CAediting_1270962	chr19_1398236_-	intronic
CAediting_1270963	chr19_1398266_-	UTR3
CAediting_1270964	chr19_1398301_-	UTR3
CAediting_1270965	chr19_1398349_-	UTR3
CAediting_1270966	chr19_1398355_-	UTR3
CAediting_1270967	chr19_1398362_-	UTR3
CAediting_1270968	chr19_1398377_-	UTR3
CAediting_1270969	chr19_1398431_-	UTR3
CAediting_1270970	chr19_1398439_-	UTR3
CAediting_1270971	chr19_1398463_-	UTR3
CAediting_1270972	chr19_1398521_-	UTR3
CAediting_1270973	chr19_1398564_-	UTR3
CAediting_1270974	chr19_1398610_-	UTR3
CAediting_1270975	chr19_1398686_-	exonic
CAediting_1270976	chr19_1398701_-	exonic
CAediting_1270977	chr19_1398711_-	exonic

Repat-regional RNA editing(s).

CAeditome ID	Position	Repeat family	Repeat sub family	Repeat name
CAediting_1270958	chr19_1398158_-	SINE	Alu	AluSz6
CAediting_1270959	chr19_1398187_-	SINE	Alu	AluSz6
CAediting_1270960	chr19_1398226_-	SINE	Alu	AluSz6
CAediting_1270961	chr19_1398235_-	SINE	Alu	AluSz6
CAediting_1270962	chr19_1398236_-	SINE	Alu	AluSz6
CAediting_1270963	chr19_1398266_-	SINE	Alu	AluSz6
CAediting_1270964	chr19_1398301_-	SINE	Alu	AluSz6
CAediting_1270965	chr19_1398349_-	SINE	Alu	AluSz6
CAediting_1270966	chr19_1398355_-	SINE	Alu	AluSz6
CAediting_1270967	chr19_1398362_-	SINE	Alu	AluSz6
CAediting_1270968	chr19_1398377_-	SINE	Alu	AluSz6
CAediting_1270969	chr19_1398431_-	SINE	Alu	AluJo
CAediting_1270970	chr19_1398439_-	SINE	Alu	AluJo
CAediting_1270971	chr19_1398463_-	SINE	Alu	AluJo
CAediting_1270972	chr19_1398521_-	SINE	Alu	AluJo
CAediting_1270973	chr19_1398564_-	SINE	Alu	AluJo
CAediting_1270974	chr19_1398610_-	SINE	Alu	AluJo
CAediting_1270975	chr19_1398686_-	SINE	Alu	AluJo
CAediting_1270976	chr19_1398701_-	SINE	Alu	AluJo
CAediting_1270977	chr19_1398711_-	SINE	Alu	AluJo

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RNA A-to-I editing events in the alternative splicing sites for GAMT

RNA A-to-I editing(s) in the alternative splicing sites.

AStype

CAeditomID

Editing position

AS position

AS direction

Exonic location

Wildtype sequence

Wildtype splicing strength

RNA edited sequence

RNA edited splicing strength

Differential percent of spliced in (PSI) between RNA A-to-I edited and non-edited samples for ENSG00000130005.10.GAMT.

Correlation between RNA A-to-I editing and PSI for ENSG00000130005.10.GAMT.

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Differntial gene expression between RNA A-to-I edited versus non-edited samples for GAMT

Differential gene expressions between RNA A-to-I edited and non-edited tumor samples.
* The grey color means N/A.

Correlation between RNA A-to-I editing and gene expression.

- Differentially expressed gene between RNA A-to-I edited samples versus non-edited samples.
* Click on the image to enlarge it in a new window.

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Protein coding region RNA A-to-I editings for GAMT

- Lollipop plot for RNA A-to-I editings across protein structure.
* Click on the image to enlarge it in a new window.

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The effects of the RNA editing to the miRNA binding sites for GAMT

**If you are searching a miRNA gene with RNA editing events in its seed regions, please see the search pages of miRNA targets to discover the effects of this RNA editing event to miRNA regulations. For more information, please check the files in the Download page.

RNA A-to-I editing in the 3'-UTR regions of mRNA gained miRNA binding sites.

CAeditom_ID	Position	ENSG	ENST	miRNA	Targetscan start	Targetscan end	Targetscan score	Miranda start	Miranda end	Miranda score	Miranda energy
CAediting_1270974	chr19_1398610_-	ENSG00000130005.10	ENST00000591788	hsa-miR-153-5p	1398610	1398616	7mer-m8	1398609	1398630	148.00	-4.17
CAediting_1270974	chr19_1398610_-	ENSG00000130005.10	ENST00000591788	hsa-miR-3680-3p	1398605	1398612	8mer-1a	1398605	1398627	140.00	-13.08
CAediting_1270974	chr19_1398610_-	ENSG00000130005.10	ENST00000591788	hsa-miR-3680-3p	1398605	1398612	8mer-1a	1398605	1398627	140.00	-13.08

RNA A-to-I editing in the 3'-UTR regions of mRNA lost miRNA binding sites.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in lncRNA gained miRNA binding sites.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in lncRNA lost miRNA binding sites.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in miRNAs gained binding to lncRNA.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in miRNAs lost binding to lncRNA.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in miRNAs gained binding to the 3'-UTR region of mRNA.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

RNA A-to-I editing in miRNAs lost binding to the 3'-UTR mRNA.

CAeditom_ID

Position

ENSG

ENST

miRNA

Targetscan start

Targetscan end

Targetscan score

Miranda start

Miranda end

Miranda score

Miranda energy

Differentially expressed gene-miRNA network

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The effects of the RNA editing to the stability of the RNA structures for GAMT

- RNA A-to-I editing in mRNA.
* Click on the image to enlarge it in a new window.

ENST

ENST type

RNA structure without RNA A-to-I editing.

RNA structure with RNA A-to-I editing.

RNA A-to-I editing in RNA structures for Minimum free energy (MFE).

CAeditom_ID

ENST

Editing_Position

MFE_withoneAI

MFE_withoutAI

MFE_withmultipleAI

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Relation with ADAR for GAMT

Correlation between ADAR gene expression and RNA editing frequency

Cancer

CAeditomID

position

ADAR1 (p-val)

ADAR1 (coeff.)

ADAR2 (p-val)

ADAR2 (coeff.)

ADAR3 (p-val)

ADAR3 (coeff.)

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Relation with cancer stages for GAMT

Correlation between Cancer stages and RNA editing frequency

Cancer

Stage_type

CAeditomID

position

P-val

Coeff.

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Relation with survival for GAMT

Correlation between RNA editing and survival

Cancer

CAeditomID

position

KMpvalue

Coxpvalue

CoxHR

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RelatedDrugs for GAMT

Approved drugs targeting this gene.
(DrugBank Version 5.1.8 2021-01-03)

Gene	UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
GAMT	Q14353	DB00536	Guanidine	Guanidinoacetate N-methyltransferase	SmallMoleculeDrug	approved
GAMT	Q14353	DB00148	Creatine	Guanidinoacetate N-methyltransferase	SmallMoleculeDrug	approved\|investigational\|nutraceutical

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RelatedDiseases for GAMT

Diseases associated with this gene.
(DisGeNet 7.0)

Gene	Disease ID	Disease name	# pubmeds	Source
GAMT	C0574080	Guanidinoacetate methyltransferase deficiency	21	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
GAMT	C0036572	Seizures	2	CTD_human;GENOMICS_ENGLAND
GAMT	C3714756	Intellectual Disability	2	CTD_human;GENOMICS_ENGLAND
GAMT	C0002514	Amino Acid Metabolism, Inborn Errors	1	CTD_human
GAMT	C0013421	Dystonia	1	GENOMICS_ENGLAND
GAMT	C0020796	Profound Mental Retardation	1	CTD_human
GAMT	C0022333	Jacksonian Seizure	1	CTD_human
GAMT	C0025363	Mental Retardation, Psychosocial	1	CTD_human
GAMT	C0149958	Complex partial seizures	1	CTD_human
GAMT	C0234533	Generalized seizures	1	CTD_human
GAMT	C0234535	Clonic Seizures	1	CTD_human
GAMT	C0270824	Visual seizure	1	CTD_human
GAMT	C0270844	Tonic Seizures	1	CTD_human
GAMT	C0270846	Epileptic drop attack	1	CTD_human
GAMT	C0422850	Seizures, Somatosensory	1	CTD_human
GAMT	C0422852	Seizures, Auditory	1	CTD_human
GAMT	C0422853	Olfactory seizure	1	CTD_human
GAMT	C0422854	Gustatory seizure	1	CTD_human
GAMT	C0422855	Vertiginous seizure	1	CTD_human
GAMT	C0494475	Tonic - clonic seizures	1	CTD_human
GAMT	C0750905	Amino Acid Metabolism, Inherited Disorders	1	CTD_human
GAMT	C0751056	Non-epileptic convulsion	1	CTD_human
GAMT	C0751110	Single Seizure	1	CTD_human
GAMT	C0751123	Atonic Absence Seizures	1	CTD_human
GAMT	C0751494	Convulsive Seizures	1	CTD_human
GAMT	C0751495	Seizures, Focal	1	CTD_human
GAMT	C0751496	Seizures, Sensory	1	CTD_human
GAMT	C0917816	Mental deficiency	1	CTD_human
GAMT	C3495874	Nonepileptic Seizures	1	CTD_human
GAMT	C4048158	Convulsions	1	CTD_human
GAMT	C4316903	Absence Seizures	1	CTD_human
GAMT	C4317109	Epileptic Seizures	1	CTD_human
GAMT	C4317123	Myoclonic Seizures	1	CTD_human
GAMT	C4505436	Generalized Absence Seizures	1	CTD_human

	Gene summary
	RNA A-to-I events
	Differntial gene expression between RNA A-to-I edited tumor samples versus normal samples
	Protein coding region RNA A-to-I editings
	The effects of the RNA editing to the miRNA binding sites
	The effects of the RNA editing to the stability of the RNA structures
	Relation with ADAR
	Relation with cancer stages
	Relation with survival state
	Related drugs with this gene
	Related diseases with this gene