ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
18-13731517-A-G	ENST00000262173	p.Met1?	Start Lost	1	31402	0.000032	rs776967554
18-13731517-A-G	ENST00000383314	p.Met1?	Start Lost	1	31402	0.000032	rs776967554
18-13731517-A-G	ENST00000543302	p.Met1?	Start Lost	1	31402	0.000032	rs776967554
18-13731517-A-G	ENST00000589866	p.Met1?	Start Lost	1	31402	0.000032	rs776967554
18-13731520-G-A	ENST00000262173	p.Ala2Thr	Missense Variant	5	31398	0.000159	rs199768817
18-13731520-G-A	ENST00000383314	p.Ala2Thr	Missense Variant	5	31398	0.000159	rs199768817
18-13731520-G-A	ENST00000543302	p.Ala2Thr	Missense Variant	5	31398	0.000159	rs199768817
18-13731520-G-A	ENST00000589866	p.Ala2Thr	Missense Variant	5	31398	0.000159	rs199768817
18-13731536-C-T	ENST00000262173	p.Ala7Val	Missense Variant	0	0	0	rs1170731019
18-13731536-C-T	ENST00000383314	p.Ala7Val	Missense Variant	0	0	0	rs1170731019
18-13731536-C-T	ENST00000543302	p.Ala7Val	Missense Variant	0	0	0	rs1170731019
18-13731536-C-T	ENST00000589866	p.Ala7Val	Missense Variant	0	0	0	rs1170731019
18-13731537-A-G	ENST00000262173	p.Ala7Ala	Synonymous Variant	0	0	0	rs779724367
18-13731537-A-G	ENST00000383314	p.Ala7Ala	Synonymous Variant	0	0	0	rs779724367
18-13731537-A-G	ENST00000543302	p.Ala7Ala	Synonymous Variant	0	0	0	rs779724367
18-13731537-A-G	ENST00000589866	p.Ala7Ala	Synonymous Variant	0	0	0	rs779724367
18-13731541-G-T	ENST00000262173	p.Glu9Ter	Stop Gained	0	0	0	rs1464108646	lof_flag
18-13731541-G-T	ENST00000383314	p.Glu9Ter	Stop Gained	0	0	0	rs1464108646	lof_flag
18-13731541-G-T	ENST00000543302	p.Glu9Ter	Stop Gained	0	0	0	rs1464108646	lof_flag
18-13731541-G-T	ENST00000589866	p.Glu9Ter	Stop Gained	0	0	0	rs1464108646	lof_flag

Showing 1 to 20 of 1,480 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
RNMT	O43148	Phosphorylation	10	Y10-p	NSAkAEEyEKMSLEQ	54.84	5840728
RNMT	O43148	Acetylation	126	K126-ac	TGDGTQNkRkIALED	54.84	14320030
RNMT	O43148	Ubiquitination	128	K128-ub	DGTQNkRkIALEDVP	54.84	964541676
RNMT	O43148	Acetylation	128	K128-ac	DGTQNkRkIALEDVP	54.84	14320032
RNMT	O43148	Ubiquitination	137	K137-ub	ALEDVPEkQkNLEEG	54.84	964541678
RNMT	O43148	Acetylation	137	K137-ac	ALEDVPEkQkNLEEG	54.84	3986276
RNMT	O43148	Ubiquitination	139	K139-ub	EDVPEkQkNLEEGHS	54.84	964541680
RNMT	O43148	Phosphorylation	153	Y153-p	SSTVAAHyNELQEVG	54.84	23139992
RNMT	O43148	Ubiquitination	163	K163-ub	LQEVGLEkRSQSRIF	54.84	21183684
RNMT	O43148	Methylation	180	K180-m1	RNFNNWMkSVLIGEF	54.84	57988409
RNMT	O43148	Ubiquitination	190	K190-ub	LIGEFLEkVRQKKKR	54.84	573757722
RNMT	O43148	Ubiquitination	208	K208-ub	VLDLGCGkGGDLLkW	54.84	27206805
RNMT	O43148	Acetylation	208	K208-ac	VLDLGCGkGGDLLkW	54.84	33364539
RNMT	O43148	Ubiquitination	214	K214-ub	GkGGDLLkWKKGRIN	54.84	964541682
RNMT	O43148	Ubiquitination	222	K222-ub	WKKGRINkLVCTDIA	54.84	573757724
RNMT	O43148	Ubiquitination	234	K234-ub	DIADVSVkQCQQRYE	54.84	573757726
RNMT	O43148	Phosphorylation	331	S331-p	LIRRLEAsEtESFGN	54.84	55368206
RNMT	O43148	Phosphorylation	333	T333-p	RRLEAsEtESFGNEI	54.84	55368210
RNMT	O43148	Phosphorylation	341	Y341-p	ESFGNEIyTVKFQKK	54.84	55368214
RNMT	O43148	Phosphorylation	385	Y385-p	LNEMAKKyNMKLVYK	54.84	22778008

Showing 1 to 20 of 33 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
RNMT	ENST00000383314	PCSI_0024_Pa_P	pancreas	carcinoma	42510852	c.679+866A>G	p.?	Unknown	NEUTRAL	.01652	Confirmed somatic variant	PMID: N/A	primary	0
RNMT	ENST00000383314	AOCS-085-1-2	ovary	carcinoma	42509104	c.553+209T>G	p.?	Unknown	NEUTRAL	.06446	Confirmed somatic variant	PMID: N/A	NS	0
RNMT	ENST00000383314	SJMB039	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	42508536	c.1240C>T	p.R414*	Substitution - Nonsense	PATHOGENIC	.83646	Reported in another cancer sample as somatic	PMID: N/A	NS	414
RNMT	ENST00000383314	YUZINO	skin	malignant_melanoma	42510941	c.776C>G	p.T259S	Substitution - Missense	PATHOGENIC	.96343	Confirmed somatic variant	PMID: 22842228	metastasis	259
RNMT	ENST00000383314	TCGA-43-3394-01	lung	carcinoma	42510385	c.1271A>G	p.N424S	Substitution - Missense		.6086	Confirmed somatic variant	PMID: N/A	primary	424
RNMT	ENST00000383314	YUDIALE	skin	malignant_melanoma	42509533	c.1102G>T	p.V368F	Substitution - Missense	PATHOGENIC	.99019	Confirmed somatic variant	PMID: 22842228	NS	368
RNMT	ENST00000383314	J32_T	lung	carcinoma	42510703	c.1257+1331C>A	p.?	Unknown	NEUTRAL	.00838	Confirmed somatic variant	PMID: N/A	NS	0
RNMT	ENST00000383314	8066067	pancreas	carcinoma	42510191	c.1258-2072T>G	p.?	Unknown	NEUTRAL	.05022	Confirmed somatic variant	PMID: N/A	NS	0
RNMT	ENST00000383314	PCSI_0468_Pa_P_526	pancreas	carcinoma	42509480	c.1140-1691G>C	p.?	Unknown	NEUTRAL	.18037	Confirmed somatic variant	PMID: N/A	primary	0
RNMT	ENST00000383314	PD13418a	breast	carcinoma	42509272	c.-171-929G>A	p.?	Unknown	NEUTRAL	.02594	Confirmed somatic variant	PMID: N/A	NS	0
RNMT	ENST00000383314	T_CCA_SG_15	biliary_tract	carcinoma	42508104	c.1139+335del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
RNMT	ENST00000383314	MEN0054G-P	meninges	meningioma	42511326	c.1257+2497C>G	p.?	Unknown	NEUTRAL	.01161	Confirmed somatic variant	PMID: 28713588	NS	0
RNMT	ENST00000383314	TCGA-CQ-6225-01	upper_aerodigestive_tract	carcinoma	42510546	c.675T>A	p.C225*	Substitution - Nonsense	PATHOGENIC	.94656	Confirmed somatic variant	PMID: N/A	NS	225
RNMT	ENST00000383314	ML_75_T_01	skin	carcinoma	42508468	c.1257+896G>T	p.?	Unknown	NEUTRAL	.00026	Confirmed somatic variant	PMID: N/A	primary	0
RNMT	ENST00000383314	94441	stomach	carcinoma	42509384	c.1262A>T	p.Y421F	Substitution - Missense	PATHOGENIC	.94516	Confirmed somatic variant	PMID: 24807215	primary	421
RNMT	ENST00000383314	T3118	large_intestine	carcinoma	42508055	c.935del	p.G312Afs*13	Deletion - Frameshift			Confirmed somatic variant	PMID: 25344691	NS	312
RNMT	ENST00000383314	TCGA-FJ-A3Z9-01	urinary_tract	carcinoma	42508585	c.724G>A	p.D242N	Substitution - Missense	PATHOGENIC	.99205	Confirmed somatic variant	PMID: N/A	NS	242
RNMT	ENST00000383314	CC-UT-170T	kidney	carcinoma	42509914	c.788C>A	p.S263*	Substitution - Nonsense	PATHOGENIC	.98728	Confirmed somatic variant	PMID: 32271170	primary	263
RNMT	ENST00000383314	GCTK_349_T	stomach	carcinoma	42509641	c.1140-90A>T	p.?	Unknown	NEUTRAL	.24145	Confirmed somatic variant	PMID: N/A	primary	0
RNMT	ENST00000383314	SJEPD035_R	central_nervous_system	glioma	42509997	c.-196A>T	p.?	Unknown	PATHOGENIC	.96092	Confirmed somatic variant	PMID: 24553141	primary	0

Showing 1 to 20 of 657 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF03291	Pox_MCEL	mRNA capping enzyme	136-475	CL0063	NADP_Rossmann	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	RNA guanine-7 methyltransferase [Source:HGNC Symbol;Acc:HGNC:10075]
Synonyms:	G7MT1, cm1p, MET, CMT1c, hMet, CMT1
Other ID(s):	ENSG00000101654, HGNC:10075
Protein Accession Numbers:	ENST00000591746, NP_001365063, ENST00000543302, ENST00000593007, ENST00000262173, ENST00000589866, NP_003790, NP_001365061, ENST00000535051, ENST00000592764, ENST00000588457, NP_001365064, NP_001295192, ENST00000383314
Statistics:	ClinVar(3) gnomAD(1480) COSMIC(657) PTM(33)

Classification of Clinicial Significance of ClinVar Data