AiPD: Autoinhibited Protein Database

O43148

Gene name	RNMT (KIAA0398)
Protein name	mRNA cap guanine-N7 methyltransferase
Names	RG7MT1, mRNA (guanine-N(7))-methyltransferase, mRNA cap methyltransferase, hCMT1, hMet, hcm1p
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8731
EC number	2.1.1.56: Methyltransferases
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

39-119 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

39-119 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

6 structures for O43148

Entry ID	Method	Resolution	Chain	Position	Source
3BGV	X-ray	230 A	A/B/C/D	165-476	PDB
3EPP	X-ray	241 A	A/B	165-476	PDB
5E8J	X-ray	235 A	A/B	167-476	PDB
5E9J	X-ray	347 A			PDB
5E9W	X-ray	228 A	A/B/C/D	167-476	PDB
AF-O43148-F1	Predicted				AlphaFoldDB

353 variants for O43148

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8901735 rs199768817	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1170731019 CA401978513	7	A>V		No	ClinGen gnomAD
CA401978531 rs1464108646	9	E>*		No	ClinGen gnomAD
rs61730998 CA8901737	10	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401978562 rs1406712938	11	E>G		No	ClinGen TOPMed gnomAD
CA296787406 rs1014433126	12	K>R		No	ClinGen TOPMed gnomAD
rs1361041184 CA401978590	13	M>K		No	ClinGen gnomAD
CA401978613 rs1035919752	14	S>C		No	ClinGen TOPMed gnomAD
rs1035919752 CA296787408	14	S>F		No	ClinGen TOPMed gnomAD
CA401978604 rs1340625852	14	S>T		No	ClinGen gnomAD
rs560888117 CA296787409	15	L>F		No	ClinGen TOPMed
CA401978619 rs560888117	15	L>V		No	ClinGen TOPMed
CA401978634 rs1601993145	16	E>Q		No	ClinGen Ensembl
rs1361951738 CA401978650	17	Q>K		No	ClinGen TOPMed
CA296787427 rs765341402	18	A>E		No	ClinGen Ensembl
CA296787417 rs865852051	18	A>T		No	ClinGen Ensembl
rs201562560 CA8901738	19	K>E		No	ClinGen ExAC TOPMed gnomAD
CA8901739 rs61730997	20	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901740 rs61730997	20	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901741 rs772399725	20	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8901743 rs747122646	21	S>L		No	ClinGen ExAC TOPMed gnomAD
rs115821778 CA8901745	22	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA296787514 rs1013236562	27	E>G		No	ClinGen TOPMed
rs759780550 CA8901748	28	S>T		No	ClinGen ExAC gnomAD
CA8901749 rs114951540	31	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs114951540 CA401978897	31	N>T		No	ClinGen 1000Genomes ExAC gnomAD
CA401978918 rs1431149770	32	I>T		No	ClinGen gnomAD
CA401978940 rs1290432114	33	N>S		No	ClinGen TOPMed
rs1229840354 CA401978968	35	N>D		No	ClinGen TOPMed
rs1429441267 CA401979000	36	T>I		No	ClinGen TOPMed gnomAD
CA401978991 rs1247530781	36	T>S		No	ClinGen gnomAD
CA8901752 rs201592442	37	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1300820580 CA401979024	38	A>S		No	ClinGen TOPMed
TCGA novel	39	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8901754 rs201601149	40	G>R		No	ClinGen ExAC TOPMed gnomAD
rs201601149 CA8901753	40	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1203586924 CA401979058	41	T>I		No	ClinGen gnomAD
rs1265558032 CA401979062	42	G>R		No	ClinGen TOPMed gnomAD
rs958021329 CA296787571	43	L>F		No	ClinGen TOPMed
TCGA novel	44	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141701841 CA8901756	45	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA401979103 rs1404608014	46	K>E		No	ClinGen TOPMed gnomAD
CA401979116 rs1488671970	47	T>A		No	ClinGen TOPMed gnomAD
rs138155222 CA401979118	47	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488671970 CA401979114	47	T>P		No	ClinGen TOPMed gnomAD
CA8901757 rs138155222	47	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901758 rs549814394	49	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149130238 CA8901759 CA296787630	51	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA401979191 rs1317836620 COSM181273	54	D>G	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8901761 rs778181249	55	I>K		No	ClinGen ExAC gnomAD
rs1218369029 CA401979200	55	I>V		No	ClinGen TOPMed gnomAD
CA401979221 rs1362975393	56	A>G		No	ClinGen gnomAD
TCGA novel	56	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA296787634 rs964553994	56	A>T		No	ClinGen TOPMed gnomAD
rs747492929 CA8901762	57	R>G		No	ClinGen ExAC gnomAD
rs974550566 CA296787653	57	R>K		No	ClinGen TOPMed
rs1268930037 CA401979247	59	R>G		No	ClinGen gnomAD
rs199889022 CA296787659	62	F>C		No	ClinGen TOPMed gnomAD
CA401979318 rs1156790988	64	D>N		No	ClinGen TOPMed gnomAD
CA401979341 CA401979343 rs1401284214	65	D>E		No	ClinGen TOPMed gnomAD
CA401979331 rs1407151406	65	D>Y		No	ClinGen gnomAD
CA296787680 rs771154316	66	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8901763 rs771154316	66	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1404509650 CA401979354	67	V>I		No	ClinGen gnomAD
rs776808773 CA8901764	69	E>G		No	ClinGen ExAC TOPMed gnomAD
CA401979404 rs746089526	71	S>C		No	ClinGen ExAC TOPMed gnomAD
rs112590484 CA296787713	71	S>P		No	ClinGen Ensembl
COSM3422069 rs746089526 CA8901765	71	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1601993845 CA401979411	72	S>G		No	ClinGen Ensembl
rs770201986 CA8901767	73	C>G		No	ClinGen ExAC TOPMed gnomAD
CA401979441 rs1601993886	74	G>V		No	ClinGen Ensembl
rs775780770 CA8901768	76	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767325569 CA8901771	78	P>A		No	ClinGen ExAC gnomAD
rs767325569 CA8901770	78	P>S		No	ClinGen ExAC gnomAD
CA8901772 rs760567801	80	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA401979503 rs1304555949	80	K>R		No	ClinGen Ensembl
CA8901773 rs765878703	81	K>E		No	ClinGen ExAC gnomAD
CA401979541 rs1377705899	83	K>R		No	ClinGen TOPMed gnomAD
rs752664406 CA296787759	84	L>R		No	ClinGen Ensembl
CA401979565 rs563132015	85	D>E		No	ClinGen 1000Genomes gnomAD
rs753289452 CA8901774	86	P>T		No	ClinGen ExAC
rs759032673 CA8901775	88	I>T		No	ClinGen ExAC gnomAD
rs1398286427 CA401979614	90	P>A		No	ClinGen gnomAD
rs1801762 CA296787814	93	K>E		No	ClinGen gnomAD
rs1313935398 CA401979693	96	G>D		No	ClinGen gnomAD
CA8901777 rs533704344	100	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8901778 rs758737914	103	K>E		No	ClinGen ExAC
rs778146831 CA8901779	105	R>K		No	ClinGen ExAC gnomAD
CA8901780 rs143290824	107	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA401979820 rs1355210194	107	R>I		No	ClinGen gnomAD
rs983509441 CA296787863	110	E>D		No	ClinGen gnomAD
rs781431960 CA8901782	111	D>G		No	ClinGen ExAC gnomAD
CA8901781 rs757768815	111	D>H		No	ClinGen ExAC gnomAD
CA8901784 rs769888601	113	P>A		No	ClinGen ExAC gnomAD
CA401979882 rs769888601	113	P>S		No	ClinGen ExAC gnomAD
rs1206451106 CA401979943	118	S>P		No	ClinGen gnomAD
rs1443995858 CA401979952	119	T>A		No	ClinGen gnomAD
CA401979961 rs1183963381	119	T>I		No	ClinGen TOPMed gnomAD
CA401979959 rs1183963381	119	T>S		No	ClinGen TOPMed gnomAD
CA8901786 rs749481566	121	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8901787 rs771795058	122	G>D		No	ClinGen ExAC gnomAD
rs1406705076 CA401979991	122	G>R		No	ClinGen Ensembl
rs907869437 CA296787908	123	T>A		No	ClinGen Ensembl
rs1167591189 CA401980016	124	Q>*		No	ClinGen gnomAD
CA296787914 rs368041400	129	I>T		No	ClinGen ESP TOPMed
rs772993668 CA8901788	129	I>V		No	ClinGen ExAC TOPMed gnomAD
CA296787917 rs920718923	130	A>T		No	ClinGen TOPMed
CA296787918 rs942005899	132	E>Q		No	ClinGen Ensembl
CA8901789 rs371607738	133	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA296787938 rs868206894	135	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1454022674 CA401980154	136	E>*		No	ClinGen gnomAD
rs776544194 CA8901791	138	Q>R		No	ClinGen ExAC gnomAD
rs1363489073 CA401980203	139	K>E		No	ClinGen gnomAD
CA401980531 rs1204331665	140	N>H		No	ClinGen gnomAD
rs774993545 CA8901816	142	E>K		No	ClinGen ExAC gnomAD
rs763861467 CA8901818	144	G>E		No	ClinGen ExAC gnomAD
CA401980575 rs1479452329	144	G>R		No	ClinGen TOPMed
CA401980581 rs763861467	144	G>V		No	ClinGen ExAC gnomAD
rs866209357 CA296791102	145	H>Q		No	ClinGen TOPMed
rs767949084 CA8901821	151	A>G		No	ClinGen ExAC gnomAD
CA401980699 rs751001553	152	H>P		No	ClinGen ExAC gnomAD
CA8901822 rs751001553	152	H>R		No	ClinGen ExAC gnomAD
rs756578039 CA8901823	153	Y>C		No	ClinGen ExAC gnomAD
rs766382597 CA8901824	154	N>S		No	ClinGen ExAC TOPMed gnomAD
CA401980780 rs1387654706	156	L>P		No	ClinGen gnomAD
rs755009756 CA8901826	159	V>A		No	ClinGen ExAC TOPMed gnomAD
rs755009756 CA296791155	159	V>G		No	ClinGen ExAC TOPMed gnomAD
CA401980849 rs1300910058	160	G>V		No	ClinGen gnomAD
CA8901828 rs748346138	164	R>H	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA401980945 rs1333879752	166	Q>*		No	ClinGen gnomAD
rs530734654 CA8901829	166	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs948255458 CA296791177	168	R>C		No	ClinGen TOPMed gnomAD
CA8901830 rs367704299	168	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA776336867 rs1371381439	171	Y>*		No	ClinGen TOPMed
rs1490590707 CA401981030	171	Y>H		No	ClinGen TOPMed gnomAD
rs1183191331 CA401981120	176	N>D		No	ClinGen gnomAD
rs866015528 CA296791253	178	W>*		No	ClinGen Ensembl
CA8901832 rs769711837	178	W>R		No	ClinGen ExAC
CA8901833 rs775274217	179	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	183	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401981184 rs1443181735	183	L>V		No	ClinGen gnomAD
CA401981193 rs1311042781	184	I>T		No	ClinGen TOPMed
rs773935531 CA8901853	190	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA401981885 rs1389817891	191	V>I		No	ClinGen TOPMed
CA8901854 rs747817395	192	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771908667 CA8901855	192	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8901857 rs115527371	193	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA401981920 rs1253189207	194	K>*		No	ClinGen gnomAD
rs1460356358 CA401981928	194	K>M		No	ClinGen gnomAD
rs771175945 CA8901858	195	K>E		No	ClinGen ExAC gnomAD
CA401981943 rs1190610345	195	K>N		No	ClinGen TOPMed
rs777214936 CA8901859	196	K>T		No	ClinGen ExAC TOPMed gnomAD
rs554159794 CA8901860	197	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765305190 CA401981965	197	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765305190 CA8901861 COSM372881	197	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs114980013 CA296793000	198	D>G		No	ClinGen 1000Genomes TOPMed
rs763004358 CA8901863	199	I>T		No	ClinGen ExAC gnomAD
rs1170493178 CA401982023	202	L>V		No	ClinGen gnomAD
CA401982075 rs1468121418	206	C>G		No	ClinGen gnomAD
rs1274929549 CA401982123	210	G>R		No	ClinGen TOPMed
TCGA novel	211	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755962149 CA8901866	219	R>G		No	ClinGen ExAC gnomAD
rs779678503 CA8901867	220	I>M		No	ClinGen ExAC gnomAD
CA401982276 rs1229079417	221	N>T		No	ClinGen TOPMed
rs753821778 CA8901868	222	K>*		No	ClinGen ExAC gnomAD
CA8901869 rs754906739	222	K>N		No	ClinGen ExAC gnomAD
CA8901872 rs778981196	224	V>F		No	ClinGen ExAC gnomAD
COSM223927 CA401982298 rs778981196	224	V>I	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA401982307 rs1214081086	225	C>S		No	ClinGen gnomAD
rs1310003078 CA401982315	226	T>S		No	ClinGen TOPMed
CA8901891 rs758001810	227	D>G		No	ClinGen ExAC gnomAD
rs747729376 CA8901873	227	D>N		No	ClinGen ExAC gnomAD
rs746677748 CA8901893	228	I>M		No	ClinGen ExAC gnomAD
CA8901892 rs561383779	228	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs780880923 CA8901895	230	D>N		No	ClinGen ExAC TOPMed gnomAD
rs746296039 CA8901896	231	V>I		No	ClinGen ExAC gnomAD
rs776001269 CA8901898	233	V>I		No	ClinGen ExAC gnomAD
rs1438601973 CA401982493	239	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768789789 CA8901901	239	R>W		No	ClinGen ExAC gnomAD
CA296795725 rs373921702	240	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901902 rs373921702	240	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901903 rs761939929	241	E>D		No	ClinGen ExAC TOPMed gnomAD
CA401982529 rs1421428832	241	E>G		No	ClinGen TOPMed
rs1180239436 CA401982524	241	E>K		No	ClinGen gnomAD
TCGA novel	241	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401982541 rs1292014052	242	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs114235607 CA8901904	243	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1711006 rs375847538 CA8901905	246	R>C	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs375847538 CA401982653	246	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM181275 CA8901906 rs759454627	246	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8901907 rs116111155	247	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752711714 CA8901908	247	R>H		No	ClinGen ExAC gnomAD
rs202093575 CA8901909	249	S>G		No	ClinGen ExAC TOPMed gnomAD
rs763674156 CA8901910	249	S>N		No	ClinGen ExAC gnomAD
CA401982763 rs1310040118	252	I>T		No	ClinGen TOPMed
rs1335085496 CA401982795	254	S>G		No	ClinGen TOPMed gnomAD
rs751084319 CA8901911	254	S>N		No	ClinGen ExAC TOPMed gnomAD
CA401982794 rs1335085496	254	S>R		No	ClinGen TOPMed gnomAD
rs991835042 CA296795771	258	I>V		No	ClinGen Ensembl
CA401982961 rs1358104721	262	S>T		No	ClinGen gnomAD
rs1192789237 CA401983609	266	L>R		No	ClinGen gnomAD
CA8901933 rs750084052	266	L>V		No	ClinGen ExAC gnomAD
rs116831898 CA8901935	268	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749682519 CA8901936	270	K>R		No	ClinGen ExAC TOPMed gnomAD
COSM986757 rs779338611 CA8901938	272	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs576605287 CA8901939	272	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs1398550073 CA401983746	273	D>G		No	ClinGen gnomAD
rs763498569 CA296796964	274	P>S		No	ClinGen Ensembl
rs1353078026 CA401983774	275	Q>E		No	ClinGen TOPMed
CA296796965 rs931588850	275	Q>R		No	ClinGen Ensembl
rs777931696 CA8901941	277	C>W		No	ClinGen ExAC
TCGA novel	282	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	285	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs190647591 CA8901942	287	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8901943 rs771336224	290	S>L		No	ClinGen ExAC gnomAD
CA401984052 rs1420793689	294	Y>C		No	ClinGen TOPMed gnomAD
rs768472917 CA401984072	297	A>S		No	ClinGen ExAC gnomAD
rs768472917 CA8901946	297	A>T		No	ClinGen ExAC gnomAD
rs116730904 CA296796994	297	A>V		No	ClinGen 1000Genomes gnomAD
CA8901948 rs761745817	298	D>A		No	ClinGen ExAC gnomAD
CA401984092 rs1268327133	300	M>L		No	ClinGen gnomAD
rs1434208169 CA401984102	301	L>M		No	ClinGen TOPMed gnomAD
CA401984104 rs1201682651	301	L>P		No	ClinGen gnomAD
rs1434208169 CA401984101	301	L>V		No	ClinGen TOPMed gnomAD
rs767030559 CA8901949	302	R>G		No	ClinGen ExAC gnomAD
rs749997624 CA8901950	304	A>T		No	ClinGen ExAC gnomAD
CA8901952 rs766060545	305	C>Y		No	ClinGen ExAC gnomAD
rs1398911757 CA401984142	307	R>K		No	ClinGen TOPMed
CA296797061 rs866134592	311	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	311	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300690151 CA401984176	312	G>A		No	ClinGen gnomAD
CA8901955 rs753507842	313	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8901954 rs753507842	313	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA8901956 rs779298591	315	I>V		No	ClinGen ExAC TOPMed gnomAD
rs753147610 CA8901957	317	T>A		No	ClinGen ExAC gnomAD
CA401984213 rs758917066	318	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8901958 rs758917066	318	T>S		No	ClinGen ExAC TOPMed gnomAD
CA401984224 rs1356090650	320	N>S		No	ClinGen gnomAD
rs934008833 CA296797098	322	F>L		No	ClinGen TOPMed gnomAD
CA401984277 rs1247080310	326	R>G		No	ClinGen TOPMed gnomAD
COSM3388367 CA296797796 rs780942591	327	R>C	pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA8901970 rs760230752	327	R>H		No	ClinGen ExAC gnomAD
CA401984293 rs1233581995	328	L>R		No	ClinGen TOPMed
rs1199857910 CA401984333	334	E>V		No	ClinGen gnomAD
CA8901972 rs1371640815	337	G>R		No	ClinGen TOPMed
TCGA novel	339	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA401984375 rs1240341017	340	I>T		No	ClinGen gnomAD
TCGA novel	341	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753466668 CA8901974	341	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	342	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437433134 CA401984427	347	K>N		No	ClinGen gnomAD
rs759159864 CA8901975	347	K>T		No	ClinGen ExAC gnomAD
rs370514852 CA8901976	349	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA401984445 rs1370862361	350	D>G		No	ClinGen TOPMed gnomAD
CA296797841 rs373629247	350	D>N		No	ClinGen ESP
TCGA novel	350	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298429754 CA401984478	355	G>R		No	ClinGen TOPMed
rs1465004848 CA401984489	356	C>*		No	ClinGen gnomAD
CA401984493 rs1373192777 COSM986758	357	K>E	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1171309133 CA401984495	357	K>R		No	ClinGen gnomAD
CA296797858 rs947277535	358	Y>*		No	ClinGen TOPMed
rs1338564274 CA401984503	358	Y>C		No	ClinGen gnomAD
rs753160301 CA8901978	359	D>H		No	ClinGen ExAC TOPMed gnomAD
CA8901979 rs758827042	361	N>S		No	ClinGen ExAC gnomAD
CA401984539 CA8901980 rs778464114	362	L>F		No	ClinGen ExAC gnomAD
CA401984546 rs1401871062	363	E>K		No	ClinGen TOPMed gnomAD
CA401984544 rs1401871062	363	E>Q		No	ClinGen TOPMed gnomAD
rs1380123006 CA401984569	364	G>V		No	ClinGen gnomAD
rs1398058034 CA401984580	365	V>G		No	ClinGen gnomAD
CA296797898 rs1043282098	367	D>G		No	ClinGen TOPMed gnomAD
CA296797903 rs79252026	368	V>G		No	ClinGen Ensembl
CA401984615 rs1178086686	368	V>L		No	ClinGen TOPMed
CA401984626 rs1260534692	369	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781289611 CA8901983	374	Y>C		No	ClinGen ExAC gnomAD
CA401984723 rs1483342232	375	F>L		No	ClinGen gnomAD
CA8901984 rs746094042	375	F>Y		No	ClinGen ExAC gnomAD
CA401984726 rs1183273934	376	P>A		No	ClinGen gnomAD
CA8901987 rs747978145	377	L>S		No	ClinGen ExAC gnomAD
CA8902007 rs757770486	383	K>E		No	ClinGen ExAC gnomAD
rs767899070 CA8902008	387	M>V		No	ClinGen ExAC gnomAD
rs1264610892 CA401985446	391	Y>*		No	ClinGen gnomAD
rs1193666998	391	Y>*		No	gnomAD
rs1294648475 CA401985451	392	K>R		No	ClinGen gnomAD
rs1436309196	394	T>H	Variant assessed as Somatic; 4.689e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA8902010 rs756116618	395	F>L		No	ClinGen ExAC TOPMed gnomAD
rs780376408 CA8902011	397	E>D		No	ClinGen ExAC TOPMed gnomAD
rs749466878 CA296801679	398	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8902013 rs758223882	399	Y>C		No	ClinGen ExAC gnomAD
CA8902015 rs746959876	400	E>K		No	ClinGen ExAC gnomAD
TCGA novel	401	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489445655 CA401985513	401	E>G		No	ClinGen gnomAD
CA401985517 rs1175240912	402	K>*		No	ClinGen gnomAD
CA8902016 rs770957267	403	I>F		No	ClinGen ExAC TOPMed gnomAD
rs776424781 CA8902017	403	I>M		No	ClinGen ExAC TOPMed gnomAD
rs150685617 CA296801747	403	I>T		No	ClinGen ESP gnomAD
rs770957267 CA296801728	403	I>V		No	ClinGen ExAC TOPMed gnomAD
rs911942319 CA296801783	406	N>S		No	ClinGen Ensembl
rs1239130836 CA401985557	407	E>D		No	ClinGen TOPMed
rs1200767109 CA401985561	408	N>H		No	ClinGen TOPMed
CA8902019 rs376815436	410	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368467570 CA8902018	410	M>T		No	ClinGen ESP ExAC gnomAD
rs1404831805 CA401985576	410	M>V		No	ClinGen gnomAD
TCGA novel	412	L>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM255606 rs764556627 CA8902022	414	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs774916614 CA8902023	414	R>Q		No	ClinGen ExAC gnomAD
rs1036738186 CA296801805	415	M>V		No	ClinGen TOPMed
CA296801832 rs899167531	417	A>P		No	ClinGen Ensembl
rs899167531 CA296801844	417	A>T		No	ClinGen Ensembl
CA296801881 rs985702261	417	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8902026 rs768109426	419	E>K		No	ClinGen ExAC gnomAD
rs544424412 CA296807756	420	P>S		No	ClinGen 1000Genomes
CA296807764 rs1044504766	421	Y>C		No	ClinGen TOPMed
CA8902051 rs752890849	421	Y>H		No	ClinGen ExAC gnomAD
CA8902052 rs139464798	422	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1360600544 CA401986784	423	A>S		No	ClinGen TOPMed gnomAD
CA401986777 rs1360600544	423	A>T		No	ClinGen TOPMed gnomAD
CA401986849 rs1277066203	426	S>N		No	ClinGen gnomAD
CA401986881 rs1183512144	428	K>E		No	ClinGen TOPMed
rs149656559 CA8902054	431	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs533284511 CA8902055	431	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs748848283 CA8902057	432	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1219975879 CA401987054	437	Y>C		No	ClinGen gnomAD
rs987453120 CA296807779	439	H>Y		No	ClinGen Ensembl
rs114363580 CA8902058	442	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs891945637 CA296807793	444	M>R		No	ClinGen TOPMed
CA401987177 rs1487453445	444	M>V		No	ClinGen gnomAD
rs778731625 CA8902059	445	K>R		No	ClinGen ExAC TOPMed gnomAD
CA401987217 rs778731625	445	K>T		No	ClinGen ExAC TOPMed gnomAD
CA401987273 rs1207259095	447	S>R		No	ClinGen TOPMed
rs1442392838 CA401987282	448	Q>*		No	ClinGen gnomAD
rs1568512726 CA401987287	448	Q>R		No	ClinGen Ensembl
CA8902061 rs772494092	450	R>K		No	ClinGen ExAC gnomAD
rs199988857 CA8902060	450	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1377363727 CA401987349	452	P>A		No	ClinGen gnomAD
CA401988087 rs1374387000	454	G>R		No	ClinGen gnomAD
CA401988095 rs1264119312	455	T>A		No	ClinGen TOPMed
CA8902078 rs754569928	455	T>S		No	ClinGen ExAC gnomAD
CA401988116 rs1568514112	456	L>F		No	ClinGen Ensembl
CA401988123 rs1310244170	457	S>C		No	ClinGen gnomAD
rs919146348 CA296809245	459	S>P		No	ClinGen Ensembl
rs1242662521 CA401988164	460	E>K		No	ClinGen gnomAD
CA8902079 rs778504769	462	E>G		No	ClinGen ExAC gnomAD
rs1212188233 CA401988210	463	A>G		No	ClinGen gnomAD
rs1014020737 CA296809270	464	T>A		No	ClinGen TOPMed gnomAD
CA401988219 rs1457610630	464	T>I		No	ClinGen gnomAD
CA296809283 rs929242981	465	S>G		No	ClinGen TOPMed gnomAD
rs760569010 CA8902094	466	I>V		No	ClinGen ExAC TOPMed gnomAD
CA401988637 rs1423871385	468	L>M		No	ClinGen gnomAD
rs1421348235 CA401988655	469	V>E		No	ClinGen gnomAD
CA401988653 rs1052337925	469	V>L		No	ClinGen TOPMed gnomAD
CA296813970 rs1052337925	469	V>M		No	ClinGen TOPMed gnomAD
CA401988743 rs1171067872	475	Q>R		No	ClinGen gnomAD
CA401988780 rs1356096833	477	Q>W		No	ClinGen gnomAD

No associated diseases with O43148

1 regional properties for O43148

Type	Name	Position	InterPro Accession
domain	mRNA (guanine-N(7))-methyltransferase domain	128 - 476	IPR004971

Functions

		Description
EC Number	2.1.1.56	Methyltransferases
Subcellular Localization	Nucleus
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
fibrillar center	A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures.
mRNA cap binding complex	Any protein complex that binds to an mRNA cap at any time in the lifetime of the mRNA.
mRNA cap methyltransferase complex	A protein complex that consists of an RNA 5' triphosphatase and a guanyl transferase (Cet1p and Ceg1p in S. cerevisiae; Pct1 and Ceg1 in S. pombe) and is involved in mRNA capping.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
receptor complex	Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

2 GO annotations of molecular function

Name	Definition
mRNA (guanine-N7-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + G(5')pppR-RNA = S-adenosyl-L-homocysteine + m7G(5')pppR-RNA. m7G(5')pppR-RNA is mRNA containing an N7-methylguanine cap; R may be guanosine or adenosine.
RNA binding	Binding to an RNA molecule or a portion thereof.

2 GO annotations of biological process

Name	Definition
7-methylguanosine mRNA capping	Addition of the 7-methylguanosine cap to the 5' end of a nascent messenger RNA transcript.
cellular response to leukemia inhibitory factor	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a leukemia inhibitory factor stimulus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9LHQ7	At3g20650	mRNA cap guanine-N7 methyltransferase 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MANSAKAEEY	EKMSLEQAKA	SVNSETESSF	NINENTTASG	TGLSEKTSVC	RQVDIARKRK
70	80	90	100	110	120
EFEDDLVKES	SSCGKDTPSK	KRKLDPEIVP	EEKDCGDAEG	NSKKRKRETE	DVPKDKSSTG
130	140	150	160	170	180
DGTQNKRKIA	LEDVPEKQKN	LEEGHSSTVA	AHYNELQEVG	LEKRSQSRIF	YLRNFNNWMK
190	200	210	220	230	240
SVLIGEFLEK	VRQKKKRDIT	VLDLGCGKGG	DLLKWKKGRI	NKLVCTDIAD	VSVKQCQQRY
250	260	270	280	290	300
EDMKNRRDSE	YIFSAEFITA	DSSKELLIDK	FRDPQMCFDI	CSCQFVCHYS	FESYEQADMM
310	320	330	340	350	360
LRNACERLSP	GGYFIGTTPN	SFELIRRLEA	SETESFGNEI	YTVKFQKKGD	YPLFGCKYDF
370	380	390	400	410	420
NLEGVVDVPE	FLVYFPLLNE	MAKKYNMKLV	YKKTFLEFYE	EKIKNNENKM	LLKRMQALEP
430	440	450	460	470
YPANESSKLV	SEKVDDYEHA	AKYMKNSQVR	LPLGTLSKSE	WEATSIYLVF	AFEKQQ