AiPD: Autoinhibited Protein Database

Q96G04

Gene name	EEF2KMT
Protein name	Protein-lysine N-methyltransferase EEF2KMT
Names	eEF2-lysine methyltransferase, eEF2-KMT
Species	Homo sapiens (Human)
KEGG Pathway	hsa:196483
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

62-132 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

62-132 (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

2 structures for Q96G04

Entry ID	Method	Resolution	Chain	Position	Source
8FZB	X-ray	335 A	A/B/C	1-330	PDB
AF-Q96G04-F1	Predicted				AlphaFoldDB

418 variants for Q96G04

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA7890409 RCV001335030 rs142385356	319	E>D	ALG1-congenital disorder of glycosylation [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775019306 CA7890986	4	E>A		No	ClinGen ExAC TOPMed gnomAD
rs775019306 CA277175234	4	E>G		No	ClinGen ExAC TOPMed gnomAD
CA7890987 rs760367837	4	E>Q		No	ClinGen ExAC gnomAD
CA394681058 rs1304177358	5	E>D		No	ClinGen gnomAD
CA277175230 rs995505589	5	E>G		No	ClinGen TOPMed
rs745332317 CA7890984	5	E>K		No	ClinGen ExAC gnomAD
CA394680742 rs200859432 CA7890982	6	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890983 rs539465200	6	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394680728 rs1334574349	7	A>E		No	ClinGen TOPMed gnomAD
rs1334574349 CA394680727	7	A>G		No	ClinGen TOPMed gnomAD
CA394680730 rs1214717180	7	A>S		No	ClinGen TOPMed gnomAD
CA394680723 rs1334574349	7	A>V		No	ClinGen TOPMed gnomAD
CA394680694 rs1229906058	9	T>I		No	ClinGen gnomAD
CA394680685 rs1305758052	10	E>Q		No	ClinGen TOPMed gnomAD
rs1459072148 CA394680619 CA394680621	14	Q>H		No	ClinGen TOPMed gnomAD
CA394680628 rs1161075383	14	Q>K		No	ClinGen gnomAD
CA394680625 rs1458623469	14	Q>R		No	ClinGen gnomAD
rs1364593541 CA394680615	15	S>R		No	ClinGen gnomAD
CA394680575 rs1417333188	16	F>L		No	ClinGen TOPMed gnomAD
CA7890976 rs184805059	17	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394680555 rs1194853355	18	R>C		No	ClinGen gnomAD
CA7890975 rs758585506	18	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394680542 rs530475838	19	R>C		No	ClinGen TOPMed gnomAD
CA277175221 rs530475838	19	R>G		No	ClinGen TOPMed gnomAD
rs1469779081 CA394680538	19	R>P		No	ClinGen TOPMed
rs750464657 CA7890974	20	F>I		No	ClinGen ExAC gnomAD
CA394680528 rs1350952333	20	F>S		No	ClinGen gnomAD
CA7890973 rs779580996	21	L>V		No	ClinGen ExAC TOPMed gnomAD
CA394680499 rs754219488	22	A>E		No	ClinGen ExAC gnomAD
CA7890972 rs757773453	22	A>T		No	ClinGen ExAC gnomAD
CA7890971 rs754219488	22	A>V		No	ClinGen ExAC gnomAD
CA7890970 rs764483799	23	A>E		No	ClinGen ExAC gnomAD
rs760291464 CA7890969	24	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394680470 rs1267814037	24	R>H		No	ClinGen TOPMed gnomAD
CA7890967 rs767114520	25	T>K		No	ClinGen ExAC gnomAD
CA277175208 rs537348571	26	L>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs537348571 CA277175206	26	L>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA394680429 rs568124050	27	R>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs568124050 CA277175204	27	R>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs1596283701 CA394680396	29	F>C		No	ClinGen Ensembl
rs1441083227 CA394680405	29	F>I		No	ClinGen TOPMed
rs759049272 CA7890966	29	F>L		No	ClinGen ExAC gnomAD
CA394680381 rs1251608202	30	P>H		No	ClinGen TOPMed gnomAD
CA394680380 rs1251608202	30	P>L		No	ClinGen TOPMed gnomAD
rs967716619 CA277175200	30	P>S		No	ClinGen TOPMed gnomAD
rs1233240996 CA394680376	31	W>R		No	ClinGen TOPMed gnomAD
rs1447892736 CA394680352	32	Q>*		No	ClinGen TOPMed gnomAD
CA394680344 rs1260646496	32	Q>H		No	ClinGen gnomAD
rs1165363806 CA394680199	33	S>N		No	ClinGen gnomAD
CA394680192 rs1253250942	34	L>S		No	ClinGen gnomAD
rs578037243 CA7890910	36	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1251965725 CA394680168	37	K>N		No	ClinGen TOPMed
CA394680174 rs1596281129	37	K>Q		No	ClinGen Ensembl
rs779772485 CA7890907	38	L>*		No	ClinGen ExAC gnomAD
rs1452383895 CA394680158	39	R>K		No	ClinGen TOPMed
CA394680140 rs1251908649	41	S>L		No	ClinGen gnomAD
rs757977348 CA7890906	42	S>*		No	ClinGen ExAC TOPMed gnomAD
CA394680129 rs1255345946	43	D>V		No	ClinGen gnomAD
CA394680115 rs1333724481	45	E>D		No	ClinGen gnomAD
CA7890903 COSM3794904 rs764625367	45	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	47	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7890900 rs147997807	47	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7890898 rs775087853	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7890899 rs760548419	48	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs371812270 CA7890897	49	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1444548845 CA394680098	49	D>Y		No	ClinGen gnomAD
rs1341815094 CA394680071	52	H>Q		No	ClinGen TOPMed
CA394680077 rs1298821277	52	H>Y		No	ClinGen TOPMed
rs1213398756 CA394680067	53	K>E		No	ClinGen TOPMed
CA394680056 rs1292631270	53	K>N		No	ClinGen TOPMed
rs753962687 CA7890849	54	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1357600680 CA394679553	55	V>M		No	ClinGen gnomAD
rs1293989250 CA394679528	57	H>N		No	ClinGen TOPMed gnomAD
rs760755342 CA7890847	57	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1293989250 CA394679530	57	H>Y		No	ClinGen TOPMed gnomAD
CA7890846 rs775889559	58	P>L		No	ClinGen ExAC TOPMed gnomAD
CA277171895 rs775889559	58	P>R		No	ClinGen ExAC TOPMed gnomAD
CA394679508 rs1392449265	59	V>L		No	ClinGen TOPMed gnomAD
CA277171888 rs972472116	60	C>Y		No	ClinGen TOPMed
CA7890844 rs539734210	61	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA394679453 rs540414014	63	H>P		No	ClinGen Ensembl
CA277171879 rs540414014	63	H>R		No	ClinGen Ensembl
rs138387891 CA277171877	64	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890843 rs138387891	64	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890841 rs748917479	65	P>L		No	ClinGen ExAC gnomAD
CA7890839 rs141165367	66	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs377315909 CA7890838 COSM3361798	67	V>I	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1337242300 CA394679392	69	Y>*		No	ClinGen TOPMed gnomAD
rs2878067 CA277171862	69	Y>N		No	ClinGen gnomAD
rs1273993918 CA394679385	70	A>S		No	ClinGen gnomAD
rs1227843815 CA394679382	70	A>V		No	ClinGen gnomAD
CA394679379 rs537216471	71	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890836 rs199836524	71	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7890837 COSM1324412 rs537216471	71	R>W	ovary Variant assessed as Somatic; 0.0 impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM703485 rs1376804753 CA394679360	72	C>*	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394679362 rs1376804753	72	C>W		No	ClinGen TOPMed gnomAD
rs779797589 CA7890834	73	F>S		No	ClinGen ExAC gnomAD
rs779797589 CA394679353	73	F>Y		No	ClinGen ExAC gnomAD
CA277171834 rs866621999	74	L>V		No	ClinGen Ensembl
rs757528759 CA7890832	76	E>A		No	ClinGen ExAC gnomAD
CA394679310 rs1394787707	76	E>D		No	ClinGen gnomAD
rs201403470 CA7890831	78	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7890798 rs138005144	81	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7890797 rs201284490	82	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775414606 CA7890796	83	A>V		No	ClinGen ExAC gnomAD
rs745724185 CA394678971	86	T>A		No	ClinGen ExAC gnomAD
rs745724185 CA7890794	86	T>P		No	ClinGen ExAC gnomAD
CA7890792 rs769951038	87	E>Q		No	ClinGen ExAC gnomAD
CA7890790 rs781222680	89	L>S		No	ClinGen ExAC gnomAD
rs1421953119 COSM2154384 CA394678942	90	D>G	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7890788 rs751631132	91	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7890787 rs780763588	92	L>P		No	ClinGen ExAC gnomAD
CA394678921 rs1190077227	93	Y>C		No	ClinGen TOPMed gnomAD
CA394678912 rs529631996	94	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147557871 CA7890785	95	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147889190 CA394678898	97	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564731840 CA277170928	97	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890782 rs564731840	97	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3937088 CA7890781 rs147889190	97	A>V	oesophagus Variant assessed as Somatic; 0.0002772 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs144904475 CA7890777	98	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs774970560 CA7890779	98	E>K		No	ClinGen ExAC gnomAD
CA7890776 rs774064810	100	L>V		No	ClinGen ExAC gnomAD
rs1354942213 CA394678847	102	A>V		No	ClinGen gnomAD
rs1404552271 CA394678824	104	E>D		No	ClinGen TOPMed
TCGA novel	104	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7890775 rs370055169	104	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs141053839 CA7890773	107	Q>K		No	ClinGen ESP ExAC TOPMed
CA394678793 rs1328532506	107	Q>R		No	ClinGen TOPMed
rs201435338 CA394678759	110	R>G		No	ClinGen ExAC TOPMed gnomAD
rs556347926 CA7890771	110	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890772 rs201435338	110	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1180676635 CA394678751	111	S>C		No	ClinGen TOPMed gnomAD
CA277170884 rs965556327	112	Y>N		No	ClinGen TOPMed gnomAD
CA7890770 rs543128575	113	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746406035 CA7890768	114	L>P		No	ClinGen ExAC gnomAD
rs150027967 CA7890735	116	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7890734 rs150027967	116	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394678374 rs150027967	116	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs746023061 CA7890731	117	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7890729 rs375999506	118	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7890730 rs774293927	118	G>S		No	ClinGen ExAC TOPMed gnomAD
rs542077714 CA7890727	119	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542077714 CA7890726	119	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890728 rs542077714	119	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394678361 rs1436718563	120	V>I		No	ClinGen TOPMed
rs1436718563 CA394678360	120	V>L		No	ClinGen TOPMed
rs113774193 CA7890724	121	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1232180752 CA394678352	121	T>I		No	ClinGen TOPMed gnomAD
CA7890722 VAR_033854 rs9673733	123	S>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394678344 rs1341261315	123	S>T		No	ClinGen gnomAD
CA7890717 rs765196589	124	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7890719 rs138595696	124	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543976467 CA394678322	126	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543976467 CA7890716	126	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890714 rs201873866	127	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759649441 CA7890713	128	I>V		No	ClinGen ExAC gnomAD
rs535742993 CA7890712	129	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535742993 CA394678292	129	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770940503 COSM1206472 CA7890711	131	Y>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA394678274 rs1159862917	131	Y>H		No	ClinGen gnomAD
CA394678261 rs573199881	132	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573199881 CA7890708	132	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573199881 CA7890707	132	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1252734353 CA394678255	132	G>V		No	ClinGen gnomAD
CA7890704 rs768403270	135	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7890703 rs553187411	135	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs200910524 CA7890702	136	L>R		No	ClinGen ExAC gnomAD
CA394678217 rs1567179024	137	V>I		No	ClinGen Ensembl
CA394678188 rs1398175939	139	W>L		No	ClinGen gnomAD
CA7890699 rs779048505	140	D>A		No	ClinGen ExAC gnomAD
CA7890697 rs200021489	141	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760472451 CA7890695	142	A>T		No	ClinGen ExAC gnomAD
rs185608654 CA7890694	142	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1383646764 CA394678149	143	L>F		No	ClinGen TOPMed
TCGA novel	143	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7890693 rs147115503	146	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890692 rs138611861	146	A>V		No	ClinGen ExAC gnomAD
CA394678106 rs773268129	147	E>*		No	ClinGen ExAC gnomAD
CA7890691 rs773268129	147	E>K		No	ClinGen ExAC gnomAD
rs773268129 CA394678108	147	E>Q		No	ClinGen ExAC gnomAD
CA7890687 rs181702895	151	E>K		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs768931495 CA7890685	153	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768931495 CA394678022	153	P>R		No	ClinGen ExAC TOPMed gnomAD
CA7890683 rs371197829	154	A>P		No	ClinGen ESP ExAC gnomAD
rs201113028 CA7890682	155	V>A		No	ClinGen ExAC
CA7890680 rs200182209	157	T>I		No	ClinGen ExAC gnomAD
rs1358625293 CA394677990	157	T>P		No	ClinGen gnomAD
CA7890681 rs200182209	157	T>S		No	ClinGen ExAC gnomAD
CA7890679 rs757316189	158	N>H		No	ClinGen ExAC gnomAD
rs1202190954 CA394677973	158	N>I		No	ClinGen TOPMed
CA394677968 rs1339159896	159	R>G		No	ClinGen TOPMed gnomAD
rs1339159896 CA394677966	159	R>W		No	ClinGen TOPMed gnomAD
rs200751122 CA277169885	160	T>A		No	ClinGen TOPMed gnomAD
rs199719388 CA7890650	160	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1297392150 CA394677887	161	V>A		No	ClinGen TOPMed
rs1314301513 CA394677891	161	V>I		No	ClinGen TOPMed gnomAD
CA7890648 rs768018737	162	L>R		No	ClinGen ExAC gnomAD
CA394677877 rs1225704653	163	E>Q		No	ClinGen gnomAD
CA394677862 rs1364090989	164	L>F		No	ClinGen TOPMed gnomAD
CA394677858 rs1320974896	164	L>R		No	ClinGen gnomAD
CA394677863 rs1364090989	164	L>V		No	ClinGen TOPMed gnomAD
CA394677842 rs1437016544	166	S>G		No	ClinGen gnomAD
rs1388418559 CA394677835	166	S>N		No	ClinGen TOPMed gnomAD
CA277169875 rs558243756	168	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7890647 rs558243756	168	A>T		No	ClinGen ExAC TOPMed gnomAD
rs140512475 CA7890646	168	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA277169858 rs548063590	169	G>A		No	ClinGen Ensembl
rs772775979 CA7890644	169	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7890643 rs772775979	169	G>S		No	ClinGen ExAC TOPMed gnomAD
CA394677797 rs1273923500	171	T>A		No	ClinGen gnomAD
CA7890642 rs769667770	171	T>K		No	ClinGen ExAC gnomAD
rs769667770 CA394677791	171	T>R		No	ClinGen ExAC gnomAD
rs1341897727 COSM298191 CA394677780	172	G>A	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1341897727 CA394677779	172	G>V		No	ClinGen TOPMed gnomAD
CA394677764 rs748139229	174	A>D		No	ClinGen ExAC gnomAD
rs201678019 CA277169854	174	A>T		No	ClinGen TOPMed
CA7890641 rs748139229	174	A>V		No	ClinGen ExAC gnomAD
rs1210997300 CA394677758	175	I>V		No	ClinGen TOPMed
rs781065582 CA7890640	176	C>S		No	ClinGen ExAC TOPMed gnomAD
CA394677746 rs1467650646	176	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7890639 rs768443237	177	K>*		No	ClinGen ExAC TOPMed gnomAD
rs746745730 CA7890638	177	K>N		No	ClinGen ExAC TOPMed gnomAD
CA7890637 rs779162011	178	M>T		No	ClinGen ExAC gnomAD
rs1428715859 CA394677724	178	M>V		No	ClinGen TOPMed
rs377613734 CA7890636	180	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs144582297 COSM1519441 CA7890634	180	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs144582297 CA7890635	180	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890631 rs561644434	181	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA7890629 rs200554884	182	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7890630 rs753290253	182	R>W		No	ClinGen ExAC TOPMed gnomAD
rs759994379 CA7890628	183	A>T		No	ClinGen ExAC gnomAD
CA7890627 rs751961528	184	Y>H		No	ClinGen ExAC gnomAD
CA394677666 rs1319484122	185	I>T		No	ClinGen gnomAD
CA7890624 rs772691150	187	S>N		No	ClinGen ExAC gnomAD
rs147732641 CA7890620	188	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890621 rs776562454	188	D>G		No	ClinGen ExAC gnomAD
CA394677648 rs373777441	188	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs373777441 CA7890622	188	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1468433661 CA394677642	189	C>R		No	ClinGen TOPMed gnomAD
CA394677639 rs1425980663	189	C>S		No	ClinGen gnomAD
CA7890619 rs746870637	191	S>G		No	ClinGen ExAC TOPMed gnomAD
CA394677622 rs1485879830	191	S>R		No	ClinGen TOPMed
rs1417436966 CA394677619	192	R>Q		No	ClinGen gnomAD
rs779789598 CA7890618	192	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7890617 rs771104188	193	V>I		No	ClinGen ExAC gnomAD
CA394677605 rs1458834970	195	E>K		No	ClinGen gnomAD
rs1458834970 CA394677604	195	E>Q		No	ClinGen gnomAD
CA394677596 rs1329169156	196	Q>K		No	ClinGen gnomAD
CA394677594 rs1258263017	196	Q>R		No	ClinGen gnomAD
CA394677588 rs1217596414	197	L>V		No	ClinGen gnomAD
rs777822364 CA7890614	198	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs553273623 CA7890613	198	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890612 rs752768732	199	G>R		No	ClinGen ExAC TOPMed gnomAD
CA394677560 rs1282225127	202	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1282225127 CA394677561	202	L>V		No	ClinGen TOPMed gnomAD
rs766788154 CA7890608	203	L>F		No	ClinGen ExAC gnomAD
rs1332356980 CA394677552	203	L>P		No	ClinGen gnomAD
rs142979005 CA7890607	204	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890604 rs761367160	205	G>A		No	ClinGen ExAC TOPMed gnomAD
rs761367160 CA7890605	205	G>D		No	ClinGen ExAC TOPMed gnomAD
rs750093237 CA7890606	205	G>S		No	ClinGen ExAC TOPMed gnomAD
rs760580244 CA7890601	209	E>A		No	ClinGen ExAC gnomAD
rs1370121922 CA394677478	211	D>Y		No	ClinGen gnomAD
rs771934768 CA7890599	213	T>I		No	ClinGen ExAC TOPMed gnomAD
rs745587705 CA7890598	214	A>T		No	ClinGen ExAC gnomAD
rs112795938 CA394677428 COSM3387477 CA277169760	215	K>N	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs769895203 CA7890596	215	K>Q		No	ClinGen ExAC gnomAD
rs748306163 CA394677417	216	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7890594 rs755592437	217	D>H		No	ClinGen ExAC TOPMed gnomAD
rs755592437 CA7890593	217	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394677382 rs1308255594	219	P>L		No	ClinGen gnomAD
rs747548257 CA7890591	219	P>S		No	ClinGen ExAC gnomAD
CA7890590 rs780357161	220	R>K		No	ClinGen ExAC gnomAD
CA394677353 rs1474081867	222	T>I		No	ClinGen TOPMed
CA7890589 rs758803040	223	V>A		No	ClinGen ExAC gnomAD
CA277169708 rs1044434021	225	Q>E		No	ClinGen TOPMed gnomAD
rs750738501 CA7890588	225	Q>H		No	ClinGen ExAC gnomAD
CA7890587 rs765003677	226	L>P		No	ClinGen ExAC gnomAD
rs556916796 CA7890585	228	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148557961 CA7890582 VAR_067704	230	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs148557961 CA7890583	230	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890580 rs74684799	231	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890579 rs149687558	231	A>V		No	ClinGen ExAC TOPMed gnomAD
rs534671907 CA7890575	232	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs534671907 CA394677245	232	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs112774542 CA7890573	233	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA394677227 rs1315388189	234	H>P		No	ClinGen TOPMed gnomAD
rs1315388189 CA394677228	234	H>R		No	ClinGen TOPMed gnomAD
COSM1206470 rs746279512 CA7890571	235	Q>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779123095 CA7890570	236	L>P		No	ClinGen ExAC gnomAD
rs866690231 CA277169658	238	A>T		No	ClinGen gnomAD
rs1158441470 CA394677181	238	A>V		No	ClinGen gnomAD
COSM1284872 CA394677179 rs1452029054	239	F>I	upper_aerodigestive_tract autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA394677176 rs1452029054	239	F>V		No	ClinGen TOPMed gnomAD
CA394677162 rs1176411788	240	Q>*		No	ClinGen gnomAD
rs1266158767 CA394677134	242	D>E		No	ClinGen gnomAD
rs757565797 CA7890568	242	D>H		No	ClinGen ExAC TOPMed gnomAD
rs757565797 CA277169649	242	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1427383810 CA394677119	243	V>A		No	ClinGen TOPMed
CA7890567 rs753523355	243	V>I		No	ClinGen ExAC gnomAD
CA394677105 rs1393440388	245	I>V		No	ClinGen TOPMed
rs1488591251 CA394677085	246	A>V		No	ClinGen gnomAD
rs755638452 CA7890563	248	D>H		No	ClinGen ExAC gnomAD
rs1266589606 CA394676553	249	V>A		No	ClinGen gnomAD
rs570051680 CA7890537	249	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890536 rs570051680	249	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394676523 rs1477114791	254	E>K		No	ClinGen TOPMed
CA394676516 rs759597728	255	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759597728 CA7890533	255	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7890532 rs774855715	255	A>V		No	ClinGen ExAC gnomAD
CA7890530 rs137885504	257	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7890531 rs771418501	257	M>V		No	ClinGen ExAC TOPMed gnomAD
COSM340090 CA7890529 rs556531174	258	S>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1162906662 CA394676487	260	V>F		No	ClinGen TOPMed gnomAD
rs754458861 CA7890525	261	G>A		No	ClinGen ExAC gnomAD
CA7890526 rs780858727	261	G>R		No	ClinGen ExAC gnomAD
rs780207113 CA394676477	262	V>F		No	ClinGen ExAC TOPMed gnomAD
CA7890523 rs780207113	262	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394676469 rs1596273079	263	L>R		No	ClinGen Ensembl
CA7890520 rs201731046	264	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7890521 rs9806859	264	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596273052 CA394676465	265	R>G		No	ClinGen Ensembl
rs757034789 CA7890519	266	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1241263579 CA394676454	267	A>T		No	ClinGen gnomAD
CA7890518 rs373023812	268	A>T		No	ClinGen ESP ExAC gnomAD
CA394676441 rs1567177746	269	C>G		No	ClinGen Ensembl
rs548056696 CA7890516	269	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890514 rs149513493	270	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_060160 rs3204207 CA7890515	270	R>W		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs528172612 CA7890511	271	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394676433 rs766915913	271	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7890513 rs766915913	271	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs12928528 CA7890510 VAR_067705	272	H>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1405496246 CA394676422	272	H>Q		No	ClinGen gnomAD
rs552272205 CA7890509	272	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs12928528 CA394676427	272	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1408722315 CA394676415	273	Q>H		No	ClinGen TOPMed gnomAD
rs776203089 CA7890508	273	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs1479128624 CA394676419	273	Q>P		No	ClinGen gnomAD
CA7890506 rs3204208	274	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA394676413 rs1319019180	274	R>W		No	ClinGen gnomAD
rs893422965 CA277169043	275	A>G		No	ClinGen TOPMed
CA277169046 rs3204209	275	A>S		No	ClinGen Ensembl
rs746558572 CA7890505	276	P>S		No	ClinGen ExAC
rs1198707433 CA394676398	277	E>A		No	ClinGen gnomAD
CA394676400 rs1413426328	277	E>Q		No	ClinGen TOPMed gnomAD
CA394676391 rs1490008319	278	V>F		No	ClinGen gnomAD
CA7890502 rs1047462	280	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394676372 rs1187852388	281	A>T		No	ClinGen gnomAD
CA394676369 rs1282579438	281	A>V		No	ClinGen gnomAD
CA7890501 rs778841608	282	F>L		No	ClinGen ExAC TOPMed gnomAD
CA394676365 rs1345215552	282	F>S		No	ClinGen gnomAD
rs1282117175 CA394676358	283	T>I		No	ClinGen gnomAD
CA394676360 rs1596272830	283	T>P		No	ClinGen Ensembl
rs377526564 CA7890499	284	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377526564 CA7890498	284	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs751688481 CA7890496	285	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7890495 rs147678499 COSM1324413	285	R>H	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA394676348 rs147678499	285	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394676340 rs762981800	286	N>K		No	ClinGen ExAC gnomAD
rs773714516 CA7890493	287	P>A		No	ClinGen ExAC gnomAD
CA7890492 rs765758739	287	P>Q		No	ClinGen ExAC TOPMed
CA7890489 rs777022474	288	E>D		No	ClinGen ExAC gnomAD
rs150482713 CA394676335	288	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150482713 CA7890490	288	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7890488 rs768242412	289	T>A		No	ClinGen ExAC gnomAD
CA394676327 rs183907128	289	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183907128 CA7890487	289	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183907128 CA7890486	289	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890482 rs778775950	291	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7890481 rs757217262	291	Q>R		No	ClinGen ExAC gnomAD
CA394676312 rs1461515785	292	L>V		No	ClinGen gnomAD
CA7890479 rs755855156	293	F>C		No	ClinGen ExAC gnomAD
CA7890478 rs755855156	293	F>S		No	ClinGen ExAC gnomAD
CA394676296 rs1319455363	294	T>I		No	ClinGen gnomAD
CA394676284 rs1359702901	296	E>D		No	ClinGen gnomAD
CA7890476 rs140633124	296	E>K		No	ClinGen ExAC TOPMed gnomAD
rs140633124 CA394676289	296	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA394676281 rs1337626906	297	L>V		No	ClinGen TOPMed
rs565204592 CA7890475	298	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394676276 rs565204592	298	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772676442 CA7890423	299	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1206471 rs762583437 CA7890424	299	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7890419 rs768441103 CA7890420	301	G>R		No	ClinGen ExAC gnomAD
rs1238606278 CA394675823	303	R>K		No	ClinGen gnomAD
CA394675824 rs1238606278	303	R>T		No	ClinGen gnomAD
CA394675799 rs1434912694	306	V>M		No	ClinGen TOPMed gnomAD
CA7890415 rs774688938	308	P>S		No	ClinGen ExAC
rs771051209 COSM971367 CA7890413	309	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs151297040 CA7890412	309	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs151297040 CA394675762	309	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs771051209 CA394675767	309	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1301894696 CA394675749	310	H>Q		No	ClinGen gnomAD
CA394675756 rs1567174692	310	H>Y		No	ClinGen Ensembl
CA394675745 rs1402386578	311	E>K		No	ClinGen gnomAD
rs1596266611 CA394675725	312	Q>*		No	ClinGen Ensembl
rs1483209115 CA394675703	313	K>N		No	ClinGen TOPMed
TCGA novel	314	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288589384 CA394675689	315	F>L		No	ClinGen TOPMed gnomAD
rs1426019156 CA394675680	315	F>L		No	ClinGen gnomAD
rs1451195477 CA394675671	316	P>L		No	ClinGen TOPMed gnomAD
CA394675658 rs1360487088	317	Y>C		No	ClinGen TOPMed gnomAD
CA277166181 rs867696905	318	E>K		No	ClinGen gnomAD
rs1371220174 CA394675622	320	H>Y		No	ClinGen TOPMed
CA394675590 rs751858067	322	E>D		No	ClinGen ExAC TOPMed gnomAD
CA7890403 CA394675578 rs190402165	323	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7890404 rs371589415	323	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201345819 CA7890405	323	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs140141371 CA7890402	324	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA277166156 rs973810353	325	M>V		No	ClinGen TOPMed gnomAD
rs776562609 CA7890400	327	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776562609 CA7890401	327	N>T		No	ClinGen ExAC TOPMed gnomAD
rs552184574 CA7890398	328	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552184574 CA394675532	328	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760584474 VAR_067706 CA7890397	329	T>I		No	ClinGen UniProt ExAC dbSNP gnomAD
CA277166137 rs568457681	330	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1337048855	331	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96G04

1 regional properties for Q96G04

Type	Name	Position	InterPro Accession
domain	FAM86, N-terminal	8 - 98	IPR029426

Functions

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

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
protein-containing complex	A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together.

1 GO annotations of molecular function

Name	Definition
protein-lysine N-methyltransferase activity	Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to the epsilon-amino group of a lysine residue in a protein substrate.

2 GO annotations of biological process

Name	Definition
peptidyl-lysine trimethylation	The methylation of peptidyl-lysine to form peptidyl-N6,N6,N6-trimethyl-L-lysine.
protein methylation	The addition of a methyl group to a protein amino acid. A methyl group is derived from methane by the removal of a hydrogen atom.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5VZV1	METTL21C	Protein-lysine methyltransferase METTL21C	Homo sapiens (Human)	PR
O95568	METTL18	Histidine protein methyltransferase 1 homolog	Homo sapiens (Human)	PR
A6NDL7	METTL21EP	Putative methyltransferase-like protein 21E pseudogene	Homo sapiens (Human)	PR

10	20	30	40	50	60
MAPEENAGTE	LLLQSFERRF	LAARTLRSFP	WQSLEAKLRD	SSDSELLRDI	LHKTVKHPVC
70	80	90	100	110	120
VKHPPSVKYA	RCFLSELIKK	HEAVHTEPLD	ELYEALAETL	MAKESTQGHR	SYLLPSGGSV
130	140	150	160	170	180
TLSESTAIIS	YGTTGLVTWD	AALYLAEWAI	ENPAVFTNRT	VLELGSGAGL	TGLAICKMCR
190	200	210	220	230	240
PRAYIFSDCH	SRVLEQLRGN	VLLNGLSLEA	DITAKLDSPR	VTVAQLDWDV	ATVHQLSAFQ
250	260	270	280	290	300
PDVVIAADVL	YCPEAIMSLV	GVLRRLAACR	EHQRAPEVYV	AFTVRNPETC	QLFTTELGRA
310	320
GIRWEVEPRH	EQKLFPYEEH	LEMAMLNLTL