AiPD: Autoinhibited Protein Database

Q9H5U6

Gene name	ZCCHC4
Protein name	rRNA N6-adenosine-methyltransferase ZCCHC4
Names	Zinc finger CCHC domain-containing protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29063
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-130 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-130 (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 Q9H5U6

Entry ID	Method	Resolution	Chain	Position	Source
6UCA	X-ray	310 A	A/B/C/D/E/F	24-464	PDB
AF-Q9H5U6-F1	Predicted				AlphaFoldDB

445 variants for Q9H5U6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs372779261 CA2878000	2	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs893330879 CA356546633	3	A>D		No	ClinGen gnomAD
CA2878002 rs377163841	3	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs893330879 CA93614068	3	A>V		No	ClinGen gnomAD
rs754158578 CA2878004	4	S>C		No	ClinGen ExAC TOPMed gnomAD
CA2878003 rs780340161	4	S>T		No	ClinGen ExAC gnomAD
CA2878005 rs755437967	5	R>G		No	ClinGen ExAC gnomAD
rs369901387 CA2878006	5	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA356546667 rs369901387	5	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs569937880 CA93614081	6	N>H		No	ClinGen 1000Genomes
CA356546688 rs1191154407	6	N>S		No	ClinGen TOPMed gnomAD
CA2878008 rs758525284	7	G>E		No	ClinGen ExAC TOPMed gnomAD
CA356546695 rs748742354	7	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748742354 CA2878007	7	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1202126261 CA356546729	9	E>G		No	ClinGen TOPMed
CA93614097 rs201849641	10	A>D		No	ClinGen TOPMed gnomAD
rs747182175 CA2878010	10	A>S		No	ClinGen ExAC TOPMed gnomAD
rs747182175 CA356546736	10	A>T		No	ClinGen ExAC TOPMed gnomAD
rs201849641 CA356546740	10	A>V		No	ClinGen TOPMed gnomAD
CA2878012 rs776975597 CA356546745	11	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776975597 CA356546743	11	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1377927598 CA356546782	13	A>T		No	ClinGen gnomAD
rs1349724694 CA356546810	14	E>G		No	ClinGen TOPMed
CA356546831 rs1402067952	15	G>C		No	ClinGen gnomAD
CA93614099 rs368750590	15	G>D		No	ClinGen Ensembl
rs1402067952 CA356546835	15	G>R		No	ClinGen gnomAD
CA356546854 rs201763036	16	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356546842 rs1413287964	16	S>R		No	ClinGen gnomAD
CA2878015 rs752316215	16	S>R		No	ClinGen ExAC gnomAD
rs201763036 CA2878014	16	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1463030999 CA356546867	17	A>E		No	ClinGen TOPMed
CA356546864 rs1446318964	17	A>S		No	ClinGen gnomAD
rs1307421756 CA356546891	18	G>E		No	ClinGen gnomAD
rs1577716595 CA356546903	19	C>G		No	ClinGen Ensembl
rs1414674771 CA356546935	20	R>Q		No	ClinGen TOPMed
rs372768133 CA2878017	20	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA356546946 rs1464608841	21	G>E		No	ClinGen gnomAD
CA356546940 rs199598617 CA2878018	21	G>R		No	ClinGen ExAC gnomAD
rs141777783 CA2878019	22	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878021 rs753584671 CA356546971	22	S>R		No	ClinGen ExAC gnomAD
rs141777783 CA356546952	22	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878020 rs765944753	22	S>T		No	ClinGen ExAC gnomAD
rs1009337189 CA93614109	23	S>*		No	ClinGen TOPMed
CA356546992 rs1251675853	24	G>E		No	ClinGen TOPMed
CA356547000 rs1178304392	25	M>T		No	ClinGen TOPMed
rs1197789202 CA356547037	26	E>D		No	ClinGen gnomAD
rs1577716698 CA356547045	27	V>G		No	ClinGen Ensembl
rs765676998 CA2878023	27	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2878024 rs765676998	27	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1577716712 CA356547060	28	V>G		No	ClinGen Ensembl
CA2878025 rs758999365	28	V>M		No	ClinGen ExAC gnomAD
rs61743521 RCV000975034 CA2878026	30	P>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1577716754 CA356547148	32	D>G		No	ClinGen Ensembl
rs747079755 CA2878028	32	D>N		No	ClinGen ExAC gnomAD
rs61743519 CA2878029	33	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878030 rs200069247	34	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356547193 rs200069247	34	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878032 rs370977787	35	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878034 rs374429670	36	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs775915329 CA93614147	37	A>T		No	ClinGen Ensembl
CA2878037 rs1553894689	38	P>L		No	ClinGen Ensembl
rs1255942035 CA356547275	39	L>V		No	ClinGen gnomAD
CA356547318 rs1336462907	40	C>*		No	ClinGen gnomAD
CA2878075 rs752071973	43	G>E		No	ClinGen ExAC
rs1296336568 CA356548065	44	P>S		No	ClinGen gnomAD
CA2878077 rs767436633	45	T>I		No	ClinGen ExAC gnomAD
CA356548080 rs1396335406	45	T>P		No	ClinGen gnomAD
CA356548102 rs1338294731	46	L>F		No	ClinGen gnomAD
rs750519556 CA2878078	49	V>A		No	ClinGen ExAC gnomAD
CA356548156 rs1309322517	50	K>Q		No	ClinGen gnomAD
rs1577718114 CA356548175	51	V>G		No	ClinGen Ensembl
CA2878079 rs756216619	52	T>I		No	ClinGen ExAC gnomAD
rs754108386 CA2878081	54	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758158608 CA2878082	57	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1172178708 CA356548309	57	E>Q		No	ClinGen TOPMed
CA2878083 rs777578731	58	T>I		No	ClinGen ExAC gnomAD
rs780504465 CA356548390	59	R>L		No	ClinGen ExAC gnomAD
CA2878086 rs780504465	59	R>Q		No	ClinGen ExAC gnomAD
rs770916713 COSM1429253 CA2878085	59	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	61	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745366341 CA2878087	63	A>T		No	ClinGen ExAC gnomAD
CA2878088 rs769233970	63	A>V		No	ClinGen ExAC gnomAD
rs1359788131 CA356548573	65	S>L		No	ClinGen TOPMed gnomAD
CA356548593 rs1200030554	66	A>V		No	ClinGen TOPMed
CA356548633 rs1247789652	68	R>S		No	ClinGen TOPMed
rs1560394187 CA356548647	70	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2878091 rs144236014	72	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM264777 rs144236014 CA2878092	72	D>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs186288207 CA2878094	74	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1392756246 CA356548745	75	F>I		No	ClinGen gnomAD
rs1196333473 CA356548774	76	F>C		No	ClinGen gnomAD
rs766359165	77	Q>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1331697952 CA356548797	78	W>R		No	ClinGen gnomAD
rs1000134812 CA356548863	81	E>*		No	ClinGen TOPMed gnomAD
rs1000134812 CA93614567	81	E>Q		No	ClinGen TOPMed gnomAD
CA2878121 rs773738333	84	S>*		No	ClinGen ExAC gnomAD
rs1488234355 CA356549065	85	G>R		No	ClinGen gnomAD
rs1189548266 CA356549098	86	A>G		No	ClinGen gnomAD
CA356549116 rs1265102093 COSM183856	87	R>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1006987885 CA93614893	89	A>T		No	ClinGen TOPMed
CA2878122 rs761118609	90	A>V		No	ClinGen ExAC TOPMed gnomAD
rs766400497 CA2878123	91	R>*		No	ClinGen ExAC TOPMed gnomAD
CA356549162 rs1463724385	91	R>Q		No	ClinGen TOPMed gnomAD
CA356549186 rs1166558705	93	A>V		No	ClinGen gnomAD
rs980902958 CA93614899	95	N>H		No	ClinGen Ensembl
CA2878124 rs192992705	96	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878125 rs141229300	96	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878126 rs765444258	97	R>*		No	ClinGen ExAC gnomAD
TCGA novel	98	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356549254 rs1401187326	98	C>Y		No	ClinGen TOPMed gnomAD
CA356549274 rs1347824184	99	Q>*		No	ClinGen TOPMed
CA2878127 rs752908464	101	P>A		No	ClinGen ExAC gnomAD
rs767242722 CA2878129	103	S>C		No	ClinGen ExAC gnomAD
rs201478693 CA2878130	104	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201478693 CA356549345	104	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878132 rs779638177	104	R>L		No	ClinGen ExAC TOPMed gnomAD
rs779638177 CA356549350 COSM1289024	104	R>Q	autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA93614924 rs917165051	105	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA93614926 rs940647483	105	T>M		No	ClinGen gnomAD
CA356549361 rs917165051	105	T>P		No	ClinGen TOPMed gnomAD
rs917165051 CA356549357	105	T>S		No	ClinGen TOPMed gnomAD
CA2878134 rs545013873	107	C>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2878135 rs778606647	108	V>M		No	ClinGen ExAC gnomAD
rs543977363 CA93614932	110	R>M		No	ClinGen TOPMed gnomAD
rs534640402 CA2878152	114	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1279516605 CA356552834	115	I>T		No	ClinGen TOPMed
rs1157539185 CA356552827	115	I>V		No	ClinGen gnomAD
CA2878153 rs754508164	116	E>K		No	ClinGen ExAC gnomAD
CA2878154 rs778320003	116	E>V		No	ClinGen ExAC TOPMed gnomAD
rs752346940 CA2878155	118	P>A		No	ClinGen ExAC gnomAD
rs752346940 CA2878156	118	P>S		No	ClinGen ExAC gnomAD
CA2878157 rs778136345	121	Q>H		No	ClinGen ExAC gnomAD
rs1359010200 CA356552934	121	Q>P		No	ClinGen gnomAD
CA2878158 rs747374677	123	K>R		No	ClinGen ExAC TOPMed gnomAD
CA356553045 rs1377947025	126	Q>E		No	ClinGen TOPMed gnomAD
rs760889520 CA2878161	130	Q>H		No	ClinGen ExAC gnomAD
rs775876074 CA93624988	130	Q>K		No	ClinGen Ensembl
rs746402200 CA2878162	132	L>*		No	ClinGen ExAC gnomAD
rs769861674 CA2878163	133	L>S		No	ClinGen ExAC gnomAD
rs775442265 CA2878164	134	P>S		No	ClinGen ExAC gnomAD
CA356553212 rs1207760443	136	D>N		No	ClinGen gnomAD
CA2878167 rs774692683	139	Q>R		No	ClinGen ExAC gnomAD
CA356553285 rs1235884302	140	H>Q		No	ClinGen gnomAD
CA356553275 rs1177421243	140	H>Y		No	ClinGen gnomAD
CA2878168 rs760523701	141	S>R		No	ClinGen ExAC gnomAD
CA356553310 rs1316002858	142	E>D		No	ClinGen TOPMed gnomAD
rs1173746288 CA356553385	147	G>R		No	ClinGen gnomAD
rs77206225 RCV000893624 COSM403951 CA2878171	148	N>S	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs77206225 CA356553405	148	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878172 rs759570799	149	V>M		No	ClinGen ExAC gnomAD
rs1401252477 CA356553458	151	I>V		No	ClinGen gnomAD
rs201877101 CA2878173	152	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752156225 CA2878174	153	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs752156225 CA356553494	153	Q>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	155	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156946682 CA356553542	156	R>K		No	ClinGen TOPMed
CA2878175 rs757996335	156	R>S		No	ClinGen ExAC gnomAD
TCGA novel	157	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2878176 rs777281294	157	P>L		No	ClinGen ExAC gnomAD
rs1275300527 CA356553561	158	S>G		No	ClinGen gnomAD
CA356553569 rs1344231665	158	S>I		No	ClinGen gnomAD
CA2878177 rs77036618 RCV000893625	159	Q>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA356553599 rs1318127781	160	L>P		No	ClinGen gnomAD
rs541533330 CA93625038	161	L>V		No	ClinGen gnomAD
rs757573953 CA2878178	163	P>S		No	ClinGen ExAC gnomAD
rs1408900275 CA356553667	165	E>D		No	ClinGen TOPMed
TCGA novel	165	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936275942 CA93625043	166	N>K		No	ClinGen TOPMed
rs376167423 CA2878179	170	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA93625047 rs889155917	171	A>T		No	ClinGen TOPMed
rs746314411 CA2878180	171	A>V		No	ClinGen ExAC gnomAD
rs1211467226 CA356553764	172	Q>R		No	ClinGen TOPMed
CA2878182 rs780676513	173	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2878181 rs770202996	173	Y>D		No	ClinGen ExAC gnomAD
CA93625058 rs943431091	174	L>V		No	ClinGen TOPMed
rs1040485399 CA93625061	175	F>L		No	ClinGen TOPMed
rs995336998 CA93625066	177	D>V		No	ClinGen TOPMed gnomAD
rs373321070 CA2878187	178	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878188 rs776582518	178	R>Q		No	ClinGen ExAC gnomAD
rs373321070 CA2878186	178	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878190 rs765083269	180	C>R		No	ClinGen ExAC gnomAD
CA2878191 rs775560036	181	Q>R		No	ClinGen ExAC gnomAD
CA2878192 rs762351187	183	L>F		No	ClinGen ExAC gnomAD
rs763686725 CA2878193	184	V>A		No	ClinGen ExAC gnomAD
CA356554012 rs756913715	187	L>H		No	ClinGen ExAC TOPMed gnomAD
CA2878195 rs751159038	187	L>I		No	ClinGen ExAC gnomAD
CA2878196 rs756913715	187	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2878197 rs767799198	188	S>C		No	ClinGen ExAC gnomAD
rs750780295 CA2878198	189	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1453137225 CA356554060	190	L>F		No	ClinGen TOPMed
CA2878200 COSM1054658 rs376302691	191	G>R	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356554135 rs1264339257	193	R>G		No	ClinGen gnomAD
rs1477661752 CA356554140	193	R>K		No	ClinGen gnomAD
rs542694476 CA2878201	193	R>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	194	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA93625108 rs1019282461	196	L>Q		No	ClinGen Ensembl
CA356554244 rs1188332972	198	V>I		No	ClinGen TOPMed
rs779156991 CA2878204	202	R>G		No	ClinGen ExAC gnomAD
rs1388724644 CA356554337	202	R>T		No	ClinGen gnomAD
rs1031838171 CA93625239	205	E>G		No	ClinGen TOPMed gnomAD
CA2878220 rs766798413	207	I>F		No	ClinGen ExAC TOPMed gnomAD
rs377598800 CA2878221	207	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356554507 rs766798413	207	I>V		No	ClinGen ExAC TOPMed gnomAD
rs978478720 CA93625249	208	K>N		No	ClinGen TOPMed gnomAD
rs779071001 CA2878223	208	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2878224 rs748236945	209	L>*		No	ClinGen ExAC gnomAD
CA356554542 rs1459286115	209	L>M		No	ClinGen gnomAD
rs370574165 CA2878225	210	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	212	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356554635 rs1156916992	214	D>N		No	ClinGen gnomAD
CA2878226 rs778122842	215	K>E		No	ClinGen ExAC gnomAD
CA2878227 rs201634732	215	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769423799 CA2878228	218	N>D		No	ClinGen ExAC TOPMed gnomAD
rs151252286 CA2878229	219	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878230 rs749110192	221	S>R		No	ClinGen ExAC gnomAD
rs993010128 CA93625258	222	L>I		No	ClinGen Ensembl
TCGA novel	223	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1577738655 CA356554804	225	D>G		No	ClinGen Ensembl
CA2878231 rs768574548	226	I>F		No	ClinGen ExAC gnomAD
CA356554819 rs1428610456	226	I>S		No	ClinGen TOPMed
CA356554817 rs1428610456	226	I>T		No	ClinGen TOPMed
CA356554812 rs768574548	226	I>V		No	ClinGen ExAC gnomAD
rs774328929 CA2878232	227	D>H		No	ClinGen ExAC gnomAD
rs577915732 COSM1054659 CA2878234	229	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA2878233 rs561226098	229	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1306005156 CA356555841	230	Y>C		No	ClinGen gnomAD
rs778789607 CA2878254	231	S>L		No	ClinGen ExAC gnomAD
rs1221729101 CA356555864	233	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1488751300 CA356555861	233	F>S		No	ClinGen gnomAD
CA356555874 rs1266500202	235	M>V		No	ClinGen gnomAD
rs1478649104 CA356555884	236	E>Q		No	ClinGen gnomAD
rs1418307158 CA356555900	238	S>G		No	ClinGen gnomAD
CA2878257 rs772792682	241	H>Q		No	ClinGen ExAC gnomAD
rs61746661 CA2878256	241	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA93628576 rs892333711	242	Y>C		No	ClinGen TOPMed gnomAD
CA2878258 rs760180845	243	N>D		No	ClinGen ExAC gnomAD
rs1300438987 CA356555938	243	N>S		No	ClinGen Ensembl
rs770614286 CA2878259	244	M>V		No	ClinGen ExAC TOPMed gnomAD
CA356555959 rs1363017846	246	N>Y		No	ClinGen gnomAD
rs1009352634 CA93628585	247	H>R		No	ClinGen gnomAD
CA356555968 rs1400940338	247	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356555975 rs1168280856	248	H>N		No	ClinGen TOPMed
CA2878262 rs759959958	249	F>L		No	ClinGen ExAC gnomAD
CA2878263 rs371535618	252	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1043654972 CA93628599	253	K>Q		No	ClinGen TOPMed
rs1311612919 CA356556838	254	T>A		No	ClinGen TOPMed gnomAD
rs1355745993 CA356556845	254	T>I		No	ClinGen gnomAD
CA356556840 rs1311612919	254	T>S		No	ClinGen TOPMed gnomAD
rs1253261963 CA356556944	260	R>G		No	ClinGen TOPMed
rs772002807 COSM1163363 CA2878274	261	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2878276 rs746516570	262	F>V		No	ClinGen ExAC gnomAD
CA2878278 rs776318538	265	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776318538 CA93629879	265	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA356557081 rs1239516223	267	K>E		No	ClinGen gnomAD
rs371535069 CA93629888	268	G>D		No	ClinGen ESP TOPMed gnomAD
rs1250119103 CA356557100	268	G>S		No	ClinGen TOPMed
CA2878280 rs770238647	269	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775998262 CA2878281	271	I>T		No	ClinGen ExAC gnomAD
CA2878282 rs763475234	272	I>T		No	ClinGen ExAC gnomAD
rs1177292271	272	I>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs575913970 CA2878283	275	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375193701 CA2878284	275	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA356557221 rs1442788718	276	D>Y		No	ClinGen TOPMed
rs767524442 CA2878286	278	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2878288 rs750594592	278	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2878287 rs750594592	278	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA356557248 rs767524442	278	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1477996607 CA356557264	280	G>S		No	ClinGen gnomAD
CA356557295 rs1560411918	282	L>F		No	ClinGen Ensembl
rs758186304 CA2878291	284	E>D		No	ClinGen ExAC TOPMed gnomAD
rs373917946 CA2878294	285	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs373917946 CA2878293	285	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA356557355 rs1201445927	288	I>V		No	ClinGen TOPMed gnomAD
rs745442354 CA2878296	289	T>I		No	ClinGen ExAC gnomAD
rs769561993 CA2878298	293	L>F		No	ClinGen ExAC TOPMed gnomAD
CA356557437 rs1481224918	294	I>T		No	ClinGen TOPMed
CA356557450 rs1479315066	295	A>G		No	ClinGen gnomAD
rs1277427744 CA356557459	296	M>R		No	ClinGen TOPMed
rs1192121908 CA356557453	296	M>V		No	ClinGen gnomAD
rs775338083 CA2878299	302	S>N		No	ClinGen ExAC gnomAD
rs749645293 CA2878300	302	S>R		No	ClinGen ExAC gnomAD
rs1187604220 CA356557759	304	D>G		No	ClinGen TOPMed
rs779158515 CA93630526	305	D>G		No	ClinGen ExAC gnomAD
CA2878319 rs779158515	305	D>V		No	ClinGen ExAC gnomAD
rs748621706 CA2878320	306	S>N		No	ClinGen ExAC gnomAD
rs538363295 CA2878322	307	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538363295 CA2878321	307	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771042100 CA2878324	308	K>E		No	ClinGen ExAC gnomAD
CA2878325 rs776797550	309	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA356557839 rs1308798559	311	P>A		No	ClinGen gnomAD
CA2878326 rs373521805	311	P>R		No	ClinGen ESP ExAC TOPMed
CA2878327 rs763895966	312	I>V		No	ClinGen ExAC
rs1018670648 CA93630547	317	P>A		No	ClinGen TOPMed gnomAD
rs866910141 CA93630550	317	P>L		No	ClinGen TOPMed
rs911234930 CA93630555	318	Y>C		No	ClinGen TOPMed
CA356557892 rs1422723986	319	F>V		No	ClinGen gnomAD
rs760215323	320	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1160223730 CA356557909	321	E>Q		No	ClinGen gnomAD
rs767533921 CA2878331	322	S>P		No	ClinGen ExAC TOPMed gnomAD
rs182505131 CA2878332	323	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878333 rs755637965	323	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	328	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2878335 rs779743271	329	P>S		No	ClinGen ExAC gnomAD
TCGA novel	332	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753464905 CA2878336	335	D>G		No	ClinGen ExAC gnomAD
CA356558022 rs1458983703	337	Q>*		No	ClinGen TOPMed
TCGA novel	338	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754582636 CA2878355	338	V>L		No	ClinGen ExAC gnomAD
CA356558544 rs1298281956	340	Y>F		No	ClinGen gnomAD
rs1466686932 CA550304783	340	Y>S		No	ClinGen gnomAD
rs992974927 CA93635043	343	H>Q		No	ClinGen TOPMed gnomAD
TCGA novel	346	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356558602 rs1323219199	348	H>R		No	ClinGen TOPMed
rs752441073 CA2878357	349	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778139446 CA2878359	353	R>*		No	ClinGen ExAC gnomAD
CA2878360 COSM1054663 rs747446346	353	R>Q	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757770255 CA2878361	356	S>F		No	ClinGen ExAC TOPMed
rs781782273 CA2878362	357	P>L		No	ClinGen ExAC TOPMed gnomAD
CA356558714 rs1320315640	357	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1194070021 CA356558731	358	V>A		No	ClinGen gnomAD
CA2878363 rs373789393	358	V>M		No	ClinGen ESP ExAC gnomAD
rs367583475 CA93635065	359	R>C		No	ClinGen ESP TOPMed gnomAD
CA2878364 rs145596286	359	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878365 rs750568506	361	F>C		No	ClinGen ExAC gnomAD
CA93635071 rs750568506	361	F>S		No	ClinGen ExAC gnomAD
CA2878366 rs749554464	362	T>I		No	ClinGen ExAC gnomAD
rs200115136 CA2878368	365	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1460030970 CA356558813	366	P>L		No	ClinGen gnomAD
rs768767978 CA356558823	367	N>K		No	ClinGen TOPMed
rs1420318167 CA356558821	367	N>S		No	ClinGen TOPMed
CA356558840 rs186902553	368	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	369	I>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764823466 CA2878373	370	I>F		No	ClinGen ExAC TOPMed gnomAD
rs752248474 CA2878374	370	I>M		No	ClinGen ExAC gnomAD
CA93635129 rs980532881	372	P>A		No	ClinGen TOPMed
rs980532881 CA93635125	372	P>T		No	ClinGen TOPMed
rs1560417111 CA356558895	373	T>A		No	ClinGen Ensembl
CA2878376 rs764380541	376	G>A		No	ClinGen ExAC TOPMed gnomAD
rs764380541 CA2878377	376	G>E		No	ClinGen ExAC TOPMed gnomAD
CA93635131 rs1036419072	376	G>R		No	ClinGen TOPMed
rs759546788 CA2878390	380	C>F		No	ClinGen ExAC TOPMed gnomAD
CA356559050 rs764582146	381	S>C		No	ClinGen ExAC gnomAD
CA2878391 rs764582146	381	S>F		No	ClinGen ExAC gnomAD
RCV000956184 CA2878393 rs3752873 VAR_053751	382	P>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774990807 CA2878392	382	P>S		No	ClinGen ExAC gnomAD
rs1267351573 CA356559055	383	C>S		No	ClinGen TOPMed
CA356559065 rs1484713956	384	Q>*		No	ClinGen TOPMed gnomAD
CA356559073 rs368674649	385	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368674649 CA2878396	385	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2878395 rs376600571	385	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878397 rs767958045	386	Y>C		No	ClinGen ExAC gnomAD
rs750830340 CA2878398	387	V>I		No	ClinGen ExAC gnomAD
rs756659982 CA356559092	389	L>I		No	ClinGen ExAC gnomAD
CA356559094 rs1401594701	389	L>P		No	ClinGen gnomAD
rs756659982 CA2878399	389	L>V		No	ClinGen ExAC gnomAD
CA2878401 rs551813530 COSM1054664 CA2878403	390	E>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD NCI-TCGA
rs1471105910 CA356559105	391	N>T		No	ClinGen gnomAD
CA356559122 rs1375485656	393	H>R		No	ClinGen gnomAD
rs1270618383 CA793313044	394	C>*		No	ClinGen TOPMed
CA93635246 rs924787566	394	C>R		No	ClinGen gnomAD
rs1224103213 CA356559143	396	L>F		No	ClinGen TOPMed gnomAD
CA2878406 rs315675 VAR_024925	396	L>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1405057579 CA356559175	400	C>W		No	ClinGen TOPMed
CA2878408 rs779145506	401	T>I		No	ClinGen ExAC TOPMed gnomAD
CA356559185 rs76141517	402	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878409 rs76141517	402	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356559189 rs1460436309	403	K>T		No	ClinGen TOPMed gnomAD
rs1278330382 CA356559444	405	G>S		No	ClinGen TOPMed
CA356559450 rs1432248910	406	R>G		No	ClinGen TOPMed
CA93636235 rs991034884	408	W>R		No	ClinGen TOPMed
rs1231687413 CA356559492	411	C>Y		No	ClinGen gnomAD
TCGA novel	413	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	416	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2878430 rs752897745	417	C>R		No	ClinGen ExAC gnomAD
CA93636268 rs1056820912	418	V>I		No	ClinGen gnomAD
CA2878432 rs377288465	420	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878431 rs377288465	420	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764342563 CA2878451	423	I>M		No	ClinGen ExAC
CA356559626 rs1428542474	428	C>Y		No	ClinGen TOPMed
rs61741446 CA2878454	429	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751755289 CA2878453	429	N>Y		No	ClinGen ExAC gnomAD
CA356559666 rs779832307	434	P>A		No	ClinGen ExAC gnomAD
rs779832307 COSM1540103 CA2878455	434	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA356559673 rs1364803094	435	D>G		No	ClinGen gnomAD
rs1403396042 CA356559679	436	H>D		No	ClinGen gnomAD
CA356559689 rs1319829264 COSM1054665	437	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1011963375 CA93636657	440	G>D		No	ClinGen TOPMed gnomAD
CA93636653 rs868850063	440	G>S		No	ClinGen Ensembl
CA2878457 rs754897774	441	P>A		No	ClinGen ExAC TOPMed gnomAD
rs199749894 CA93636669	441	P>L		No	ClinGen TOPMed
CA356559713 rs754897774	441	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	442	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2878458 rs368159327	442	K>R		No	ClinGen ESP ExAC gnomAD
CA2878460 rs552545955	443	H>L		No	ClinGen 1000Genomes ExAC gnomAD
rs552545955 CA2878459	443	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA356559742 rs1577355319	445	C>W		No	ClinGen Ensembl
rs1291704300 CA356559753	447	I>F		No	ClinGen gnomAD
CA356559763 rs1577355332	448	C>F		No	ClinGen Ensembl
CA2878462 rs746670938	451	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA356559786 rs1226800559	452	D>Y		No	ClinGen TOPMed
CA2878463 rs372023999	453	H>R		No	ClinGen ESP ExAC gnomAD
CA356559803 rs1308079773	454	K>R		No	ClinGen TOPMed
CA93636684 rs761309308	455	R>C		No	ClinGen TOPMed gnomAD
CA2878464 rs140336886 COSM183876	455	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA93636697 rs140336886	455	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356559810 rs760033467	456	S>G		No	ClinGen ExAC TOPMed gnomAD
CA2878466 rs765831516	456	S>N		No	ClinGen ExAC TOPMed gnomAD
rs760033467 CA2878465	456	S>R		No	ClinGen ExAC TOPMed gnomAD
CA356559818 rs1456162597	457	T>A		No	ClinGen gnomAD
CA2878467 rs775897934	458	C>Y		No	ClinGen ExAC gnomAD
CA2878468 rs763043673	459	P>S		No	ClinGen ExAC gnomAD
rs374323875 CA2878469	461	I>V		No	ClinGen ESP ExAC gnomAD
rs1442780606 CA356559871	463	T>A		No	ClinGen TOPMed
TCGA novel	464	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2878472 rs767786726	464	S>P		No	ClinGen ExAC gnomAD
rs368205140 CA2878473	466	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2878474 rs754807959	468	N>S		No	ClinGen ExAC gnomAD
rs1381229508 CA356560602	473	K>Q		No	ClinGen gnomAD
rs202233536 CA2878493	474	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs61744830 CA2878494	475	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356560624 rs79643299	476	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2878495 rs79643299	476	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777822901 CA2878497	477	R>K		No	ClinGen ExAC
CA2878498 rs751107181	480	N>S		No	ClinGen ExAC gnomAD
rs1251174655 CA356560688	484	M>K		No	ClinGen gnomAD
CA2878500 rs756863552	485	E>K		No	ClinGen ExAC gnomAD
rs1179792644 CA356560698	485	E>V		No	ClinGen gnomAD
CA356560708 rs1480585057	487	T>A		No	ClinGen gnomAD
CA2878502 rs543365219	487	T>M		No	ClinGen ExAC TOPMed gnomAD
rs543365219 CA356560711	487	T>R		No	ClinGen ExAC TOPMed gnomAD
rs770220368 CA2878504	489	G>A		No	ClinGen ExAC gnomAD
rs745550180 CA2878503	489	G>R		No	ClinGen ExAC gnomAD
TCGA novel	492	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387893484 CA356560739	492	M>V		No	ClinGen gnomAD
CA356560751 rs1396441023	493	N>S		No	ClinGen gnomAD
TCGA novel	494	H>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373254316 CA2878507	494	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356560783 rs1322254217	498	T>K		No	ClinGen TOPMed gnomAD
CA93639235 rs190614833	499	R>G		No	ClinGen 1000Genomes gnomAD
CA2878509 rs769039917	501	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2878511 rs774964709	508	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2878512 rs533007348	509	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2878513 rs772162436	509	Q>R		No	ClinGen ExAC gnomAD
rs1202728553 CA356560869	510	Y>*		No	ClinGen gnomAD
CA356560887 rs1389302798	513	S>F		No	ClinGen TOPMed

No associated diseases with Q9H5U6

2 regional properties for Q9H5U6

Type	Name	Position	InterPro Accession
conserved_site	DNA methylase, N-6 adenine-specific, conserved site	273 - 279	IPR002052
domain	Zinc finger, GRF-type	38 - 82	IPR010666

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Cytoplasm	Accumulates in the nucleolus, where ribosome biogenesis takes place
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.

4 GO annotations of molecular function

Name	Definition
nucleic acid binding	Binding to a nucleic acid.
rRNA (adenine-N6-)-methyltransferase activity	Catalysis of the reaction: S-adenosyl-L-methionine + rRNA = S-adenosyl-L-homocysteine + rRNA containing N6-methyladenine.
S-adenosyl-L-methionine binding	Binding to S-adenosyl-L-methionine.
zinc ion binding	Binding to a zinc ion (Zn).

2 GO annotations of biological process

Name	Definition
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
rRNA methylation	The posttranscriptional addition of methyl groups to specific residues in an rRNA molecule.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
E1BGQ2	ZCCHC4	rRNA N6-adenosine-methyltransferase ZCCHC4	Bos taurus (Bovine)	PR
D3ZV31	Zcchc4	rRNA N6-adenosine-methyltransferase ZCCHC4	Rattus norvegicus (Rat)	PR
Q66IH9	zcchc4	rRNA N6-adenosine-methyltransferase ZCCHC4	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAASRNGFEA	VEAEGSAGCR	GSSGMEVVLP	LDPAVPAPLC	PHGPTLLFVK	VTQGKEETRR
70	80	90	100	110	120
FYACSACRDR	KDCNFFQWED	EKLSGARLAA	REAHNRRCQP	PLSRTQCVER	YLKFIELPLT
130	140	150	160	170	180
QRKFCQTCQQ	LLLPDDWGQH	SEHQVLGNVS	ITQLRRPSQL	LYPLENKKTN	AQYLFADRSC
190	200	210	220	230	240
QFLVDLLSAL	GFRRVLCVGT	PRLHELIKLT	ASGDKKSNIK	SLLLDIDFRY	SQFYMEDSFC
250	260	270	280	290	300
HYNMFNHHFF	DGKTALEVCR	AFLQEDKGEG	IIMVTDPPFG	GLVEPLAITF	KKLIAMWKEG
310	320	330	340	350	360
QSQDDSHKEL	PIFWIFPYFF	ESRICQFFPS	FQMLDYQVDY	DNHALYKHGK	TGRKQSPVRI
370	380	390	400	410	420
FTNIPPNKII	LPTEEGYRFC	SPCQRYVSLE	NQHCELCNSC	TSKDGRKWNH	CFLCKKCVKP
430	440	450	460	470	480
SWIHCSICNH	CAVPDHSCEG	PKHGCFICGE	LDHKRSTCPN	IATSKRANKA	VRKQKQRKSN
490	500	510
KMKMETTKGQ	SMNHTSATRR	KKRRERAHQY	LGS