AiPD: Autoinhibited Protein Database

Q9UIS9

Gene name	MBD1
Protein name	Methyl-CpG-binding domain protein 1
Names	CXXC-type zinc finger protein 3, Methyl-CpG-binding protein MBD1, Protein containing methyl-CpG-binding domain 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4152
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

258-332 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

258-332 (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 Q9UIS9

Entry ID	Method	Resolution	Chain	Position	Source
1D9N	NMR	-	A	1-75	PDB
1IG4	NMR	-	A	1-75	PDB
4D4W	NMR	-	A	167-222	PDB
5W9Q	X-ray	180 A	A/B	330-388	PDB
6D1T	X-ray	225 A	A	1-77	PDB
AF-Q9UIS9-F1	Predicted				AlphaFoldDB

458 variants for Q9UIS9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1568271857 CA402453498	2	A>S		No	ClinGen Ensembl
rs957162342 CA300063728	4	D>N		No	ClinGen Ensembl
rs1421476856 CA402453470	5	W>*		No	ClinGen gnomAD
CA8963287 rs771034658	7	D>G		No	ClinGen ExAC gnomAD
TCGA novel	8	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300063716 rs958981626	9	P>L		No	ClinGen TOPMed gnomAD
rs1382174417 CA402453442	10	A>P		No	ClinGen TOPMed
CA300063707 rs1062703	13	P>L		No	ClinGen Ensembl
CA402453402 rs1289005757	16	K>R		No	ClinGen gnomAD
CA8963282 rs780072196	17	R>H		No	ClinGen ExAC gnomAD
COSM988849 CA8963281 COSM988850 COSM1589478 rs755717520 COSM1589479	18	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA402453383 rs1404610774	19	E>D		No	ClinGen gnomAD
CA300063685 rs970888622	19	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs780948760 CA8963279	22	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402453363 rs1324565569	22	R>L		No	ClinGen TOPMed
TCGA novel	25	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300063659 rs1023377220	26	A>D		No	ClinGen Ensembl
CA300063624 rs757273205	30	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8963276 rs764375971	30	R>L		No	ClinGen ExAC gnomAD
TCGA novel	34	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	35	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1460312558	37	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs777362304 CA8963256	39	T>R		No	ClinGen ExAC gnomAD
rs1338788920 CA402453232	41	D>Y		No	ClinGen gnomAD
rs1429195882 CA402453222	42	R>K		No	ClinGen TOPMed gnomAD
rs1488370302 CA402453210	44	R>*		No	ClinGen TOPMed
rs1225085476 CA402453189	47	V>I		No	ClinGen TOPMed gnomAD
CA402453164 rs1451633877	51	R>*		No	ClinGen gnomAD
CA8963253 rs765771768	51	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	52	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	54	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149999887 CA300061784	55	P>L		No	ClinGen ESP
CA8963251 rs754006655	56	A>V		No	ClinGen ExAC TOPMed gnomAD
CA402453108 rs1165667502	60	T>A	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8963249 rs760741225	60	T>I		No	ClinGen ExAC gnomAD
CA300061768 rs140504319	67	G>V		No	ClinGen ESP TOPMed
CA300061749 rs919882838	70	C>G		No	ClinGen TOPMed gnomAD
rs1227685522 CA402453028	71	Y>C		No	ClinGen TOPMed
CA402453030 rs1196461380	71	Y>H		No	ClinGen gnomAD
CA402453010 rs1182748371	74	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1182748371 CA402453012	74	P>T		No	ClinGen TOPMed gnomAD
rs1437485109 CA402453005	75	K>E		No	ClinGen gnomAD
TCGA novel	76	A>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8963230 rs767894080	77	H>L		No	ClinGen ExAC gnomAD
CA8963231 rs200063969	77	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767894080 CA402452977	77	H>R		No	ClinGen ExAC gnomAD
rs764959686 CA8963227	79	V>A		No	ClinGen ExAC gnomAD
rs573633406 CA8963228	79	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8963226 rs759330460	80	A>V		No	ClinGen ExAC TOPMed gnomAD
rs770877581 CA300061615	81	V>F		No	ClinGen ExAC gnomAD
rs770877581 CA8963224	81	V>L		No	ClinGen ExAC gnomAD
rs746539791 CA8963223	84	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	86	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8963221 TCGA novel rs771769828	86	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1480901303 CA402452919	87	K>R		No	ClinGen gnomAD
COSM3719167 COSM3719169 COSM3719166 COSM3719168 CA300061598 rs926203824	89	P>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA402452899 rs1204829133	90	S>P		No	ClinGen TOPMed
CA8963219 rs533821841	91	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs755330575 CA8963218	94	K>T		No	ClinGen ExAC gnomAD
CA8963216 rs780477740	96	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8963217 rs143587192	96	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8963215 rs756616607	98	R>C		No	ClinGen ExAC gnomAD
CA8963214 rs377403826	98	R>H		No	ClinGen ESP ExAC gnomAD
TCGA novel	99	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300061570 rs1039487143	100	V>F		No	ClinGen TOPMed gnomAD
rs767695416 CA8963213	102	P>L		No	ClinGen ExAC
rs1224916836 CA402452814	104	S>I		No	ClinGen gnomAD
CA402452809 rs1187932924	105	G>S		No	ClinGen TOPMed
rs374266416 CA8963212	106	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8963211 rs140046193	110	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146267961 CA8963210	112	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1568247196 CA402452746	114	D>G		No	ClinGen Ensembl
CA8963208 rs201327689	117	K>M		No	ClinGen 1000Genomes ExAC
CA300061549 rs201327689	117	K>R		No	ClinGen 1000Genomes ExAC
rs77245079 CA300061540	118	A>P		No	ClinGen Ensembl
CA300061507 rs929862724	120	T>I		No	ClinGen TOPMed gnomAD
CA300061511 rs560964317	120	T>P		No	ClinGen Ensembl
CA8963206 rs760590545	121	D>A		No	ClinGen ExAC TOPMed gnomAD
rs773074278 CA8963205	122	T>I		No	ClinGen ExAC gnomAD
rs1428858509 CA402452690	123	A>D		No	ClinGen gnomAD
TCGA novel	123	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	125	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs113359870 CA300061454	127	F>L		No	ClinGen ExAC TOPMed gnomAD
rs761273021 CA8963203	129	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402452618 rs1334926590	133	C>R		No	ClinGen gnomAD
rs114907308 CA402452597	135	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA402452571 rs1278482665	139	S>N		No	ClinGen TOPMed
CA402452556 rs1440218323	141	S>A		No	ClinGen TOPMed
rs1040911984 CA300061350	142	G>R		No	ClinGen TOPMed
CA402452552 rs1040911984	142	G>W		No	ClinGen TOPMed
CA300061347 rs960797759	143	D>A		No	ClinGen TOPMed
rs1448494911 CA402452545	143	D>H		No	ClinGen TOPMed
CA402452540 rs1169843234	144	G>S		No	ClinGen TOPMed gnomAD
CA402452533 rs1478338986	145	T>A		No	ClinGen TOPMed
CA8963187 rs750392624	146	Q>E		No	ClinGen ExAC gnomAD
CA8963184 rs148657100	149	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8963181 rs144054828	150	L>F		No	ClinGen ESP ExAC gnomAD
CA8963180 rs770291620	150	L>P		No	ClinGen ExAC gnomAD
COSM1480363 rs545375854 CA8963178 COSM438187 COSM1480364 COSM438186	152	T>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	152	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402452482 rs1247393791	153	L>S		No	ClinGen gnomAD
TCGA novel	155	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8963174 rs758351481	158	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8963173 rs369277602	158	R>P		No	ClinGen ESP ExAC gnomAD
CA402452444 rs369277602	158	R>Q		No	ClinGen ESP ExAC gnomAD
CA402452418 rs1156927885	160	Q>H		No	ClinGen TOPMed
CA8963150 rs780955049	160	Q>K		No	ClinGen ExAC gnomAD
rs751523144 CA8963148	163	A>S		No	ClinGen ExAC TOPMed gnomAD
CA402452385 rs1568241562	165	N>S		No	ClinGen Ensembl
CA300061088 rs897086935	166	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1388990 COSM1388988 COSM1388991 COSM1388989 CA402452380 rs1364072665	166	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs373094921 CA8963146	171	F>Y		No	ClinGen ESP ExAC gnomAD
rs1462113864 CA402452316	173	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8963127 rs764846859	173	R>H		No	ClinGen ExAC gnomAD
CA402452309 rs1197926925	174	V>A		No	ClinGen TOPMed
TCGA novel	175	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402452292 COSM1611270 COSM1611268 COSM1611271 rs1254534929 COSM1611269	177	G>R	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1446793297 CA402452286	178	E>K		No	ClinGen gnomAD
CA8963124 rs116398989	180	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs761140878 CA8963123	181	A>T		No	ClinGen ExAC gnomAD
rs1568237541 CA402452249	183	Q>R		No	ClinGen Ensembl
CA402452238 rs1165284679	185	T>A		No	ClinGen TOPMed
CA8963121 rs367740776	187	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273798331 CA402452217	188	C>R		No	ClinGen gnomAD
TCGA novel	188	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	190	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768733963 CA8963118	190	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1599424737 CA402452185	193	T>P		No	ClinGen Ensembl
CA402452156 rs1446749423	197	Q>R		No	ClinGen gnomAD
TCGA novel	200	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402452128 rs1338333826	201	D>V		No	ClinGen gnomAD
rs1391447151 CA402452108	204	S>L		No	ClinGen TOPMed gnomAD
CA402452088 rs746884129	208	C>R		No	ClinGen ExAC TOPMed gnomAD
CA8963114 rs746884129	208	C>S		No	ClinGen ExAC TOPMed gnomAD
CA8963112 rs771836383	212	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8963113 rs777428957	212	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1234802318 CA402452045 COSM1480361 COSM1480362 COSM438184 COSM438185	214	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs748112107 CA8963111	214	R>H		No	ClinGen ExAC TOPMed gnomAD
CA402452027 rs1230209084	217	R>Q		No	ClinGen TOPMed
CA300060738 rs867327108	217	R>W		No	ClinGen Ensembl
CA300060730 rs1057340110	220	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1361511129 CA402452003	221	R>G		No	ClinGen gnomAD
rs1328048386 CA402451981	222	S>N		No	ClinGen gnomAD
rs759684535 CA8963095	223	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA402451967 rs1355770524	225	C>R		No	ClinGen gnomAD
TCGA novel	226	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8963094 rs776857176	227	V>I		No	ClinGen ExAC gnomAD
rs747913320 CA8963092	229	R>Q		No	ClinGen ExAC TOPMed
CA8963093 rs771787035 COSM294549	229	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779034269 CA8963091	230	G>A		No	ClinGen ExAC gnomAD
TCGA novel	234	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	235	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369762167 CA8963090	235	E>K		No	ClinGen ExAC gnomAD
TCGA novel	237	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8963087 rs755582164	241	P>A		No	ClinGen ExAC gnomAD
CA8963086 rs750055363	241	P>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	242	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424593931 CA402451853	242	I>V		No	ClinGen gnomAD
rs780846145 CA402451839	244	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8963085 rs780846145	244	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1166108651 CA402451832	245	R>C		No	ClinGen TOPMed
rs559798763 CA300060517	245	R>H		No	ClinGen gnomAD
rs1416246128 CA402451825	246	P>L		No	ClinGen TOPMed
CA8963084 rs757645619	246	P>S		No	ClinGen ExAC gnomAD
COSM266904 rs751885186 CA402451817	248	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8963083 rs751885186	248	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8963082 rs376154307	248	R>H	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA402451818 rs751885186	248	R>S		No	ClinGen ExAC TOPMed gnomAD
CA402451812 rs1323017451	249	P>S		No	ClinGen TOPMed
CA402451806 rs1366420659	250	G>C		No	ClinGen TOPMed
rs758905952 CA8963081	250	G>D		No	ClinGen ExAC gnomAD
CA8963080 rs137981167	251	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1428545515 CA402451789	253	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8963078 rs759614155	253	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	257	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402451737 rs1271347221	260	R>Q		No	ClinGen gnomAD
CA300060504 rs946788372	261	R>C		No	ClinGen TOPMed
CA8963073 rs768780488	264	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs147388785 CA8963074	264	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050825468 CA300060157	265	G>D		No	ClinGen Ensembl
CA8963002 rs368737381	265	G>S		No	ClinGen ESP ExAC
rs757230092 CA8963001	267	H>D		No	ClinGen ExAC
TCGA novel	268	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868022404 CA300060155	268	A>V		No	ClinGen Ensembl
CA8962999 rs374903967	269	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs754846005 CA8962998	269	R>H		No	ClinGen ExAC gnomAD
CA8962996 rs573408638	270	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8962997 rs573408638	270	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8962994 rs750294772	270	R>H		No	ClinGen ExAC TOPMed gnomAD
rs750294772 CA8962995	270	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402451520 rs1279163359	271	K>R		No	ClinGen gnomAD
rs767068057 CA8962993	272	G>A		No	ClinGen ExAC gnomAD
CA8962992 rs761177845	274	C>R		No	ClinGen ExAC TOPMed gnomAD
CA402451469 rs1394915033	278	M>I		No	ClinGen gnomAD
CA8962991 rs142689070	278	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214880808 CA402451463	279	A>V		No	ClinGen TOPMed
rs763620378 CA8962990	281	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8962988 rs371373568	282	R>Q		No	ClinGen ExAC gnomAD
CA8962989 rs763457177	282	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770486019 CA8962987	283	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746395056 CA8962986	283	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8962985 rs776958255	284	P>R		No	ClinGen ExAC gnomAD
CA402451441 rs1203312724	284	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1440729879 CA402451437	285	G>R		No	ClinGen gnomAD
rs754514182 CA300060095	286	A>T		No	ClinGen gnomAD
TCGA novel	288	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8962980 rs749148492	289	L>V		No	ClinGen ExAC
rs1427232385 CA402451398	291	P>L		No	ClinGen TOPMed
CA300060047 rs541228622	292	P>Q		No	ClinGen Ensembl
CA8962979 rs779830327	292	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755845503 CA8962978	293	P>T		No	ClinGen ExAC gnomAD
rs767316018 CA8962976	294	P>A		No	ClinGen ExAC gnomAD
CA402451386 rs1173827934	294	P>Q		No	ClinGen TOPMed
CA402451378 rs1359239944	295	S>L		No	ClinGen gnomAD
CA402451383 rs1390301385	295	S>P		No	ClinGen TOPMed
rs751008126 CA8962974	297	S>F		No	ClinGen ExAC gnomAD
rs372758945 CA8962973	299	E>Q		No	ClinGen ESP ExAC gnomAD
CA8962972 rs762686361	301	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1391938551 CA402451338	302	E>*		No	ClinGen TOPMed gnomAD
rs1391938551 CA402451339	302	E>K		No	ClinGen TOPMed gnomAD
rs1391938551 CA402451340	302	E>Q		No	ClinGen TOPMed gnomAD
CA402451335 rs1359842021	302	E>V		No	ClinGen TOPMed
rs759943579	303	P>=	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA8962970 rs115426299 COSM709406 COSM1148000 COSM1147999 COSM709407	303	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs369549163 CA402451331	303	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369549163 CA8962971	303	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA402451313 rs751145133	304	H>P		No	ClinGen ExAC gnomAD
CA8962956 rs751145133	304	H>R		No	ClinGen ExAC gnomAD
rs1196644177 CA402451295	307	A>P		No	ClinGen TOPMed
rs891299327 CA300059870	308	L>P		No	ClinGen gnomAD
rs891299327 CA300059859	308	L>Q		No	ClinGen gnomAD
rs1050857509 CA402451285	309	A>D		No	ClinGen Ensembl
CA300059838 rs1050857509	309	A>G		No	ClinGen Ensembl
CA8962954 rs757936188	309	A>T		No	ClinGen ExAC gnomAD
rs1175709915 CA402451278	310	P>L		No	ClinGen gnomAD
CA8962953 rs752431743	311	S>L		No	ClinGen ExAC gnomAD
CA300059834 rs996989583	312	P>L		No	ClinGen Ensembl
CA402451270 rs1197884906	312	P>S		No	ClinGen gnomAD
rs1400907351 CA402451262	313	P>L		No	ClinGen TOPMed
CA8962950 rs142015383	315	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766976488 CA8962949	317	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1221372750 CA402451230	318	Y>C		No	ClinGen gnomAD
rs946364427 CA300059819	319	Y>H		No	ClinGen Ensembl
CA402451215 rs1368914207	320	C>Y		No	ClinGen gnomAD
rs772160400 CA8962946	322	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8962948 rs761092389	322	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8962945 rs761839271	323	E>D		No	ClinGen ExAC
rs1321409301 CA402451182	325	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA402451158 rs1483267706	327	Q>E		No	ClinGen gnomAD
rs1300835464 CA402451141	329	Y>S		No	ClinGen TOPMed
CA8962924 rs764362213	330	T>M		No	ClinGen ExAC gnomAD
CA8962923 rs763087779	331	N>S		No	ClinGen ExAC gnomAD
rs763087779 CA402451127	331	N>T		No	ClinGen ExAC gnomAD
CA8962921 rs201274000	332	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8962922 rs775721336	332	R>S		No	ClinGen ExAC gnomAD
rs1228094438 CA402451118	333	R>Q		No	ClinGen gnomAD
CA402451119 rs1568218353	333	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs746790409 CA8962920	334	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	335	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315055454 CA402451100	336	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	336	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773336559 CA8962919	338	C>Y		No	ClinGen ExAC gnomAD
CA402451079 rs1282509795	339	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747729261 CA8962917	340	A>S		No	ClinGen ExAC TOPMed gnomAD
CA402451067 rs1308612529	341	C>R		No	ClinGen gnomAD
CA8962916 rs778570608	341	C>Y		No	ClinGen ExAC gnomAD
COSM1388978 rs1157454060 COSM1388979 COSM1388977 COSM1388980 CA402451033	346	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1568217739 CA402451035	346	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA402451029 rs1414852111	347	R>Q		No	ClinGen gnomAD
CA402451030 rs1425761643	347	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1599355218 CA402451026	348	M>V		No	ClinGen Ensembl
rs1599355113 CA402451002	350	C>W		No	ClinGen Ensembl
CA402450993 rs1424033110	352	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8962913 rs747759305	352	R>H		No	ClinGen ExAC TOPMed gnomAD
CA402450991 rs747759305	352	R>L		No	ClinGen ExAC TOPMed gnomAD
CA402450979 rs1599354700	354	D>G		No	ClinGen Ensembl
TCGA novel	355	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	359	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402450932 rs1205111303	360	P>S		No	ClinGen gnomAD
TCGA novel	367	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	372	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267624212 CA402450837	373	R>G		No	ClinGen gnomAD
rs867849767 COSM1750540 COSM1750539 COSM1750537 CA300059118 COSM1750538	375	R>H	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1271572155 CA402450775 CA402450773	382	M>L		No	ClinGen gnomAD
rs751993119 CA8962908	382	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1271572155 CA402450774	382	M>V		No	ClinGen gnomAD
CA402450744 rs1451074062	384	R>P		No	ClinGen gnomAD
CA402450745 rs1451074062	384	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	384	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8962893 rs781537255	386	L>V		No	ClinGen ExAC gnomAD
CA402450726 rs1454862413	388	S>G		No	ClinGen TOPMed
CA402450716 rs1251546379	389	V>A		No	ClinGen gnomAD
CA8962891 rs752079718	389	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1190693465 CA402450711	390	W>*		No	ClinGen gnomAD
TCGA novel	390	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8962890 rs764634794	391	S>L		No	ClinGen ExAC gnomAD
CA402450670 rs1274467881	396	G>R		No	ClinGen TOPMed
CA402450663 rs1233905710	397	A>S		No	ClinGen gnomAD
rs759810015 CA8962886	398	G>V		No	ClinGen ExAC gnomAD
CA8962885 rs754056527	399	S>L		No	ClinGen ExAC TOPMed gnomAD
rs125555 CA8962881 VAR_019513	401	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	401	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs125555 CA8962882	401	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	402	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8962880 rs762428686	402	P>S		No	ClinGen ExAC gnomAD
CA300058847 rs989610523	403	Y>C		No	ClinGen Ensembl
CA402450624 rs1303887673	404	R>C		No	ClinGen gnomAD
COSM75373 CA8962878 rs769115388	404	R>H	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs550750190 CA8962877	405	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537245589 CA8962876	405	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771313933 CA8962875 COSM211971	406	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA
CA8962874 rs368378616	406	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8962873 rs778203715	409	P>L		No	ClinGen ExAC gnomAD
rs970396739 CA300058841	409	P>S		No	ClinGen Ensembl
CA402450576 rs1389747519	412	A>V		No	ClinGen gnomAD
COSM3378514 CA300058834 COSM3378512 rs1023314200 COSM3378513 COSM3378515	413	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8962872 rs145074114	413	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8962870 rs779064515	414	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753082327 CA8962871	414	R>W		No	ClinGen ExAC TOPMed gnomAD
CA300058794 rs1050227870	416	H>L		No	ClinGen TOPMed gnomAD
TCGA novel	417	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1485303730 CA402450545	418	G>D		No	ClinGen TOPMed gnomAD
CA300058786 rs963331262	418	G>S		No	ClinGen Ensembl
rs1485303730 CA402450544	418	G>V		No	ClinGen TOPMed gnomAD
CA8962869 rs755061068	419	P>A		No	ClinGen ExAC gnomAD
CA402450537 rs1342663698	420	T>A		No	ClinGen gnomAD
rs767252581 CA8962868	421	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1272392126 CA402450525	422	K>E		No	ClinGen TOPMed
CA8962867 rs766678613	423	P>S		No	ClinGen ExAC gnomAD
CA402450517 rs766678613	423	P>T		No	ClinGen ExAC gnomAD
rs751353744 CA8962865	424	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8962862 rs775229161	428	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs141197289 CA8962861	428	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs998255464 CA300058717	432	P>S		No	ClinGen gnomAD
rs776317005 CA8962859	434	H>R		No	ClinGen ExAC gnomAD
CA8962858 rs116201949	435	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA402450442 rs116201949	435	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747444402 CA8962857	436	Q>L		No	ClinGen ExAC gnomAD
CA300058668 rs778208215	437	A>S		No	ClinGen ExAC gnomAD
CA8962856 rs778208215	437	A>T		No	ClinGen ExAC gnomAD
CA8962854 rs748711867	439	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	440	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358011052 CA402450394	443	A>T		No	ClinGen gnomAD
rs1232115248 CA402450385	444	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402450387 rs1265712725	444	G>S		No	ClinGen TOPMed gnomAD
CA8962853 rs779250333	448	V>M		No	ClinGen ExAC gnomAD
CA300058658 rs868020279	449	L>P		No	ClinGen Ensembl
rs1290698017 CA402450350	450	P>H		No	ClinGen gnomAD
CA402450342 rs1335472127	451	P>L		No	ClinGen gnomAD
CA8962850 rs780479713	454	T>I		No	ClinGen ExAC gnomAD
rs915503821 CA402450315	456	L>F		No	ClinGen gnomAD
CA300058649 rs909219784	456	L>P		No	ClinGen TOPMed
rs915503821 CA300058654	456	L>V		No	ClinGen gnomAD
CA8962849 rs756399728	460	R>Q		No	ClinGen ExAC gnomAD
rs1164534782 CA402450290	460	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	461	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA300058625 rs763959325	463	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8962847 rs763959325	463	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1232300239 CA402450265	464	S>T		No	ClinGen gnomAD
CA402450257 rs1179367370	465	S>N		No	ClinGen gnomAD
rs1453152099 CA402450251	466	P>S		No	ClinGen TOPMed gnomAD
CA402450247 rs1267560891	467	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	469	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM124344 CA8962845 rs199727558	470	P>L	upper_aerodigestive_tract Variant assessed as Somatic; 4.816e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA402450212 rs1228540045	472	P>R		No	ClinGen gnomAD
CA8962843 rs759106550	473	V>F		No	ClinGen ExAC gnomAD
rs532625467 CA8962842	474	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs982217875 CA300058601	474	A>T		No	ClinGen Ensembl
rs765812620 CA8962841	475	A>V		No	ClinGen ExAC gnomAD
rs1342630411 CA402450186	477	T>R		No	ClinGen TOPMed
rs188849693 CA8962839	479	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1390841969 CA402450158	482	Q>E		No	ClinGen gnomAD
CA402450159 rs1390841969	482	Q>K		No	ClinGen gnomAD
CA402450155 rs1216045290	482	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA402450131 rs1433483151	484	A>T		No	ClinGen gnomAD
rs1212776261 CA402450104	487	S>C		No	ClinGen gnomAD
rs1280314990 CA402450099	488	G>A		No	ClinGen gnomAD
rs769074844 CA8962818	489	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	490	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402450090 rs1344793294	490	S>T		No	ClinGen gnomAD
rs368314286 CA300058464	491	W>*		No	ClinGen Ensembl
CA300058469 rs997325222	491	W>G		No	ClinGen Ensembl
rs1296503715 CA402450068	493	V>G		No	ClinGen gnomAD
CA300058456 rs774182305	493	V>M		No	ClinGen Ensembl
CA8962817 rs749825342	494	A>P		No	ClinGen ExAC gnomAD
rs776086555 CA8962816	495	L>S		No	ClinGen ExAC gnomAD
rs370432566 CA8962815	497	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8962814 rs745902552	500	Q>R		No	ClinGen ExAC gnomAD
rs781524277 CA8962813	502	K>T		No	ClinGen ExAC gnomAD
CA300058440 rs555450900	503	A>E		No	ClinGen gnomAD
CA402450002 rs555450900	503	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA402450001 rs1432590038	504	D>N		No	ClinGen gnomAD
CA8962812 rs775773697	505	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	506	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1568207054 CA402449984	506	Q>R		No	ClinGen Ensembl
rs765756480 CA8962810 CA402449974	507	D>E		No	ClinGen ExAC TOPMed gnomAD
CA402449973 rs1409016336	508	E>K		No	ClinGen gnomAD
rs1409016336 CA402449972	508	E>Q		No	ClinGen gnomAD
rs1267905748 CA402449964	509	W>R		No	ClinGen TOPMed gnomAD
rs376324401 CA8962809	511	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8962808 rs753804798	512	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1186450265 CA402449927	515	V>L		No	ClinGen TOPMed gnomAD
rs1040158568 CA300058380	518	S>F		No	ClinGen gnomAD
rs1040158568 CA300058372	518	S>Y		No	ClinGen gnomAD
CA8962804 rs767264726 COSM988828 COSM1589492	520	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1329067416 CA402449878	523	P>L		No	ClinGen TOPMed
rs1049536964 CA300058346	524	G>D		No	ClinGen TOPMed
rs201485722 CA402449868	525	C>F		No	ClinGen TOPMed gnomAD
rs201485722 CA300058337	525	C>Y		No	ClinGen TOPMed gnomAD
CA8962803 rs761374455	527	S>T		No	ClinGen ExAC TOPMed gnomAD
CA402449822 rs1246971007	530	V>A		No	ClinGen TOPMed
TCGA novel	530	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402449819 rs1487941803	531	D>H		No	ClinGen TOPMed
rs1314841235 CA402449809	532	P>R		No	ClinGen TOPMed gnomAD
rs569680369 CA8962775	532	P>S		No	ClinGen ExAC TOPMed gnomAD
CA8962772 rs183403566	535	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760715031 CA8962773	535	P>S		No	ClinGen ExAC gnomAD
rs772270619 CA8962771	536	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	543	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779715527 CA8962769	544	P>A		No	ClinGen ExAC TOPMed gnomAD
rs779715527 CA402449737	544	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1045816095 CA300056036 COSM54434	548	K>N	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed
rs756757690 CA8962765	549	E>K		No	ClinGen ExAC gnomAD
rs1429136610 CA402449682	551	N>S		No	ClinGen gnomAD
CA8962762 rs758130401	552	K>E		No	ClinGen ExAC gnomAD
CA8962761 rs200561867	552	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211289870 CA402449645	556	A>V		No	ClinGen gnomAD
rs1300739930 CA402449640	557	S>C		No	ClinGen gnomAD
CA8962759 rs755329795	558	K>N		No	ClinGen ExAC TOPMed gnomAD
rs936265181 CA300055968	559	L>S		No	ClinGen TOPMed gnomAD
rs867006718 CA300055963	560	A>V		No	ClinGen Ensembl
rs78525701 CA8962757	561	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8962756 rs760805097	562	E>D		No	ClinGen ExAC gnomAD
rs1314066790 CA402449596	564	E>G		No	ClinGen gnomAD
CA8962755 rs767516740	568	A>D		No	ClinGen ExAC gnomAD
CA402449573 rs1374052903	568	A>P		No	ClinGen gnomAD
CA8962754 rs767516740	568	A>V		No	ClinGen ExAC gnomAD
rs762033295 CA8962753	569	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	569	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA402449564 rs1599298902	570	T>P		No	ClinGen Ensembl
rs769503747 CA8962751	572	V>M		No	ClinGen ExAC gnomAD
rs1568199630 CA402449532	573	I>T		No	ClinGen Ensembl
TCGA novel	575	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183700938 CA402449516	575	E>D		No	ClinGen gnomAD
CA402449478 rs1318126903	581	G>E		No	ClinGen TOPMed
CA8962730 rs776479957	582	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1273262892 CA402449472	582	T>S		No	ClinGen gnomAD
rs1232210734 CA402449468	583	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1232210734 CA402449469	583	R>G		No	ClinGen TOPMed gnomAD
rs1333308271 CA402449467	583	R>H		No	ClinGen TOPMed gnomAD
CA8962729 rs770780405	584	F>L		No	ClinGen ExAC TOPMed gnomAD
rs539780746 CA402449457	585	R>*		No	ClinGen TOPMed gnomAD
CA300055788 rs539780746	585	R>G		No	ClinGen TOPMed gnomAD
CA8962728 rs147372202	585	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8962727 rs147372202	585	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8962725 rs747675537	587	T>I		No	ClinGen ExAC gnomAD
rs771748932 CA8962726	587	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1426108667 CA402449440	588	A>G		No	ClinGen TOPMed

No associated diseases with Q9UIS9

4 regional properties for Q9UIS9

Type	Name	Position	InterPro Accession
domain	Methyl-CpG DNA binding	1 - 76	IPR001739
domain	Zinc finger, CXXC-type	169 - 216	IPR002857-1
domain	Zinc finger, CXXC-type	217 - 263	IPR002857-2
domain	Zinc finger, CXXC-type	330 - 378	IPR002857-3

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus matrix Nucleus speckle Chromosome	Nuclear, in a punctate pattern (PubMed:12711603) Associated with euchromatic regions of the chromosomes, with pericentromeric regions on chromosome 1 and with telomeric regions from several chromosomes (PubMed:10454587, PubMed:10648624)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
chromosome	A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information.
nuclear matrix	The dense fibrillar network lying on the inner side of the nuclear membrane.
nuclear speck	A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy.
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.

5 GO annotations of molecular function

Name	Definition
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
double-stranded methylated DNA binding	Binding to double-stranded methylated DNA. Methylation of cytosine or adenine in DNA is an important mechanism for establishing stable heritable epigenetic marks.
methyl-CpG binding	Binding to a methylated cytosine/guanine dinucleotide.
unmethylated CpG binding	Binding to uan nmethylated CpG motif. Unmethylated CpG dinucleotides are often associated with gene promoters.
zinc ion binding	Binding to a zinc ion (Zn).

2 GO annotations of biological process

Name	Definition
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
transcription by RNA polymerase II	The synthesis of RNA from a DNA template by RNA polymerase II (RNAP II), originating at an RNA polymerase II promoter. Includes transcription of messenger RNA (mRNA) and certain small nuclear RNAs (snRNAs).

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MAEDWLDCPA	LGPGWKRREV	FRKSGATCGR	SDTYYQSPTG	DRIRSKVELT	RYLGPACDLT
70	80	90	100	110	120
LFDFKQGILC	YPAPKAHPVA	VASKKRKKPS	RPAKTRKRQV	GPQSGEVRKE	APRDETKADT
130	140	150	160	170	180
DTAPASFPAP	GCCENCGISF	SGDGTQRQRL	KTLCKDCRAQ	RIAFNREQRM	FKRVGCGECA
190	200	210	220	230	240
ACQVTEDCGA	CSTCLLQLPH	DVASGLFCKC	ERRRCLRIVE	RSRGCGVCRG	CQTQEDCGHC
250	260	270	280	290	300
PICLRPPRPG	LRRQWKCVQR	RCLRGKHARR	KGGCDSKMAA	RRRPGAQPLP	PPPPSQSPEP
310	320	330	340	350	360
TEPHPRALAP	SPPAEFIYYC	VDEDELQPYT	NRRQNRKCGA	CAACLRRMDC	GRCDFCCDKP
370	380	390	400	410	420
KFGGSNQKRQ	KCRWRQCLQF	AMKRLLPSVW	SESEDGAGSP	PPYRRRKRPS	SARRHHLGPT
430	440	450	460	470	480
LKPTLATRTA	QPDHTQAPTK	QEAGGGFVLP	PPGTDLVFLR	EGASSPVQVP	GPVAASTEAL
490	500	510	520	530	540
LQEAQCSGLS	WVVALPQVKQ	EKADTQDEWT	PGTAVLTSPV	LVPGCPSKAV	DPGLPSVKQE
550	560	570	580	590	600
PPDPEEDKEE	NKDDSASKLA	PEEEAGGAGT	PVITEIFSLG	GTRFRDTAVW	LPRSKDLKKP

GARKQ