AiPD: Autoinhibited Protein Database

Q9UEE9

Gene name	CFDP1 (BCNT, CENP-29)
Protein name	Craniofacial development protein 1
Names	Bucentaur
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10428
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-291 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-291 (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

1 structures for Q9UEE9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UEE9-F1	Predicted				AlphaFoldDB

270 variants for Q9UEE9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA396797078 rs1226525834	3	E>D		No	ClinGen gnomAD
CA396797088 rs1266260825	3	E>G		No	ClinGen gnomAD
CA396797093 rs1475435559	3	E>K		No	ClinGen TOPMed
TCGA novel	4	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8175014 rs754265345	5	D>N		No	ClinGen ExAC gnomAD
CA8175013 rs761113021	6	S>C		No	ClinGen ExAC gnomAD
CA8175012 rs761113021	6	S>F		No	ClinGen ExAC gnomAD
rs773645840 CA8175011	7	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761834016 CA8175009	8	D>G		No	ClinGen ExAC gnomAD
rs768041685 CA8175010	8	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8175007 rs371773560	9	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs75511445 CA8175006	10	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA283869555 rs199510022	11	T>M		No	ClinGen 1000Genomes gnomAD
CA8175004 rs770772305	12	S>L		No	ClinGen ExAC gnomAD
TCGA novel	13	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746784680 CA396796982	14	E>D		No	ClinGen ExAC gnomAD
rs1184461961 CA396796987	14	E>K		No	ClinGen gnomAD
CA8175002 rs777611665	15	D>E		No	ClinGen ExAC gnomAD
rs1295511780 CA396796972	16	E>K		No	ClinGen TOPMed
rs1318718610 CA396796963	17	D>N		No	ClinGen gnomAD
rs747633204 CA8175000	19	V>A		No	ClinGen ExAC gnomAD
rs778426797 CA8174999	20	P>R		No	ClinGen ExAC gnomAD
rs1452924605 CA396796934	21	S>L		No	ClinGen gnomAD
CA396796933 rs1251367776	22	G>S		No	ClinGen TOPMed
CA8174961 rs768678524	24	E>*		No	ClinGen ExAC gnomAD
CA283855175 rs190439305	24	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190439305 CA8174960	24	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779655445 CA8174959	25	Y>C		No	ClinGen ExAC gnomAD
rs917439383 CA283855169	28	D>N		No	ClinGen TOPMed gnomAD
CA8174958 rs769338195	29	D>V		No	ClinGen ExAC gnomAD
CA8174957 rs745602732	30	V>I		No	ClinGen ExAC TOPMed gnomAD
rs142189255 CA8174956	32	E>K		No	ClinGen ESP ExAC
CA8174955 rs757689971	32	E>V		No	ClinGen ExAC gnomAD
rs778282880 CA8174953	34	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8174954 rs751839135	34	V>L		No	ClinGen ExAC gnomAD
rs1161364350 CA396792507	37	D>N		No	ClinGen gnomAD
rs758852963 CA8174952	37	D>V		No	ClinGen ExAC gnomAD
CA283855121 rs569392299	38	E>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs752786709 CA396792459	39	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752786709 CA8174951	39	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759527116 CA8174950	40	D>H		No	ClinGen ExAC gnomAD
rs759527116 CA8174949	40	D>N		No	ClinGen ExAC gnomAD
CA396792374 rs1206276520	43	E>*		No	ClinGen gnomAD
rs201527167 CA8174946	43	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8174947 rs766485079	43	E>G		No	ClinGen ExAC gnomAD
rs774242462 CA396792327	45	T>I		No	ClinGen ExAC TOPMed gnomAD
rs774242462 CA8174945	45	T>R		No	ClinGen ExAC TOPMed gnomAD
CA8174944 rs768731616	46	Q>*		No	ClinGen ExAC
TCGA novel	46	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396792316 rs1567679090	46	Q>R		No	ClinGen Ensembl
rs762920022 CA8174943	49	Q>E		No	ClinGen ExAC gnomAD
rs1328298421 CA396792237	50	G>E		No	ClinGen gnomAD
rs1397942407 CA396792248	50	G>R		No	ClinGen TOPMed
CA396792205 rs1161066668	52	K>E		No	ClinGen gnomAD
rs1296337835	53	R>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA396792170 rs1310665945	54	K>R		No	ClinGen TOPMed
CA8174940 rs745349266	55	A>D		No	ClinGen ExAC gnomAD
CA8174941 rs775567073	55	A>S		No	ClinGen ExAC gnomAD
CA396792158 rs775567073	55	A>T		No	ClinGen ExAC gnomAD
CA8174939 rs745349266	55	A>V		No	ClinGen ExAC gnomAD
rs532522214 CA283855062	56	Q>H		No	ClinGen 1000Genomes gnomAD
CA283855060 rs1042252041	57	S>R		No	ClinGen TOPMed gnomAD
CA396792103 rs747397164	58	I>F		No	ClinGen ExAC TOPMed gnomAD
CA8174936 rs747397164	58	I>V		No	ClinGen ExAC TOPMed gnomAD
rs16963331 CA8174934 VAR_048408	60	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	63	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329089108 CA396791051	63	R>K		No	ClinGen gnomAD
CA8174909 rs756260625	64	R>*		No	ClinGen ExAC gnomAD
CA8174908 rs146161387	65	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472512364 CA396790990	66	G>D		No	ClinGen TOPMed
CA8174907 rs767826286	66	G>S		No	ClinGen ExAC gnomAD
CA8174905 rs752501070	67	G>D		No	ClinGen ExAC gnomAD
CA8174906 rs143082831	67	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA396790917 rs901564939	70	L>I		No	ClinGen TOPMed gnomAD
rs765869642 CA8174900	71	E>G		No	ClinGen ExAC gnomAD
rs1019793271 CA283853446	72	E>D		No	ClinGen TOPMed
TCGA novel	74	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396790737 rs1354040901	77	D>A		No	ClinGen TOPMed
CA8174898 rs760163261	78	A>V		No	ClinGen ExAC gnomAD
CA8174897 rs778352253	79	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8174896 rs771679838	80	S>L		No	ClinGen ExAC TOPMed gnomAD
rs557051160 CA8174895	81	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA283853406 rs940702821	83	E>A		No	ClinGen Ensembl
rs202202039 CA8174893	84	G>E		No	ClinGen ExAC gnomAD
rs749830564 CA8174892	85	S>N		No	ClinGen ExAC gnomAD
CA396790627 rs1482761601	85	S>R		No	ClinGen TOPMed
CA396790608 rs1189328964	87	S>T		No	ClinGen TOPMed
CA8174891 rs780601023	89	E>G		No	ClinGen ExAC gnomAD
CA396790552 rs1388612337	91	D>A		No	ClinGen gnomAD
CA8174886 rs150298889	92	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8174888 rs781597358	92	D>N		No	ClinGen ExAC gnomAD
rs1162980394 CA396790530	93	A>T		No	ClinGen gnomAD
rs1411232043 CA396790518	94	A>T		No	ClinGen TOPMed
CA8174885 rs778505819	94	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396790499 rs1369467152	95	E>V		No	ClinGen TOPMed
rs1387312728 CA396790490	96	Q>E		No	ClinGen gnomAD
CA8174884 rs754795280	96	Q>H		No	ClinGen ExAC
CA396790487 rs1414844493	96	Q>P		No	ClinGen TOPMed
CA396790460 rs1314683218	98	K>E		No	ClinGen TOPMed
rs868457975 CA283853368	99	G>D		No	ClinGen TOPMed
CA8174881 rs375543202	100	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA8174882 rs375543202	100	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8174883 rs753776525	100	I>V		No	ClinGen ExAC TOPMed gnomAD
rs767175579 CA8174880	101	G>*		No	ClinGen ExAC TOPMed
CA8174879 rs767175579	101	G>R		No	ClinGen ExAC TOPMed
rs774052345 CA8174876	105	A>D		No	ClinGen ExAC gnomAD
rs1272725243 CA396790362	106	R>W		No	ClinGen TOPMed
CA396790341 rs1448593773	107	K>I		No	ClinGen gnomAD
CA283853327 rs1015815464	107	K>Q		No	ClinGen Ensembl
rs763357455 CA8174874	109	K>E		No	ClinGen ExAC TOPMed gnomAD
CA283853321 rs756812151	109	K>T		No	ClinGen Ensembl
CA8174872 rs141124786	111	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1316692276 CA396790295	111	D>N		No	ClinGen gnomAD
CA283853316 rs868047498	112	E>K		No	ClinGen Ensembl
CA396790267 rs1567678206	113	L>I		No	ClinGen Ensembl
rs745967704 CA396790246	114	W>*		No	ClinGen ExAC gnomAD
rs745967704 CA8174869	114	W>C		No	ClinGen ExAC gnomAD
CA8174868 rs781364447	115	A>T		No	ClinGen ExAC gnomAD
CA283853262 rs1056972149	116	S>I		No	ClinGen Ensembl
CA396790205 rs1346296341	118	L>F		No	ClinGen TOPMed gnomAD
CA396790208 rs1346296341	118	L>I		No	ClinGen TOPMed gnomAD
rs771282867 CA8174867	119	N>I		No	ClinGen ExAC TOPMed gnomAD
rs771282867 CA396790190	119	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1167003522 CA396790150	122	G>A		No	ClinGen gnomAD
rs1167003522 CA396790152	122	G>E		No	ClinGen gnomAD
rs778040595 CA8174865	124	K>T		No	ClinGen ExAC gnomAD
CA8174864 rs754777601	125	S>L		No	ClinGen ExAC gnomAD
rs1597395222 CA396790097	127	V>L		No	ClinGen Ensembl
CA396790088 rs1186337273	128	P>T		No	ClinGen TOPMed
CA283853236 rs905735191	129	P>A		No	ClinGen Ensembl
TCGA novel	129	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476383789 CA396790073	129	P>R		No	ClinGen gnomAD
rs1033263300 CA283853225	130	S>R		No	ClinGen TOPMed
rs191833187 CA8174861	131	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283853205 rs979019599	132	Q>P		No	ClinGen TOPMed gnomAD
CA396790011 rs201209631	134	K>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8174860 rs201209631	134	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA283853204 rs753409269	134	K>M		No	ClinGen Ensembl
CA8174839 rs745867526	135	K>E		No	ClinGen ExAC gnomAD
rs781088027 CA8174838	135	K>N		No	ClinGen ExAC gnomAD
CA396789793 rs1403312210	136	G>E		No	ClinGen TOPMed
CA396789771 rs1334718706	137	E>G		No	ClinGen gnomAD
rs1468222233 CA396789718	139	T>I		No	ClinGen gnomAD
rs751042612 CA8174836	141	E>A		No	ClinGen ExAC gnomAD
CA396789661 rs1418261029	141	E>D		No	ClinGen gnomAD
CA8174835 rs763677979	142	T>A		No	ClinGen ExAC gnomAD
rs753116624 CA8174833	144	S>P		No	ClinGen ExAC gnomAD
rs374235196 CA8174832	145	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs895709541 CA396789538	148	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1431074043 CA396789526	149	V>G		No	ClinGen TOPMed
CA396789516 rs1238846091	150	K>R		No	ClinGen gnomAD
CA8174830 rs777326580	151	A>S		No	ClinGen ExAC TOPMed
CA396789508 rs777326580	151	A>T		No	ClinGen ExAC TOPMed
CA396789476 rs1315538513	153	E>V		No	ClinGen gnomAD
TCGA novel rs377603272 CA283852145	155	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ESP
CA396789394 rs1382290866	160	T>A		No	ClinGen gnomAD
CA396789388 rs1448503446	160	T>I		No	ClinGen TOPMed
rs773653005 CA283852124	161	E>Q		No	ClinGen TOPMed
rs760696982 CA8174827	162	K>E		No	ClinGen ExAC gnomAD
rs773289333 CA8174826	162	K>R		No	ClinGen ExAC gnomAD
rs1452926172 CA396789354	163	V>L		No	ClinGen gnomAD
CA8174825 rs772193797	164	K>E		No	ClinGen ExAC gnomAD
rs748331626 CA8174824	165	I>L		No	ClinGen ExAC gnomAD
CA8174822 rs769628360	166	T>A		No	ClinGen ExAC TOPMed gnomAD
rs928249990 CA283852059	166	T>S		No	ClinGen Ensembl
rs781139341 CA8174820	172	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1226866033 CA396789234	172	A>S		No	ClinGen TOPMed
rs781139341 CA396789231	172	A>V		No	ClinGen ExAC TOPMed gnomAD
CA396789190 rs1243167108	175	E>D		No	ClinGen TOPMed gnomAD
rs1205065525 CA396789167	177	R>M		No	ClinGen gnomAD
rs1172047737 CA396796897	177	R>S		No	ClinGen TOPMed gnomAD
CA8174795 rs148232094	178	V>E		No	ClinGen ESP ExAC gnomAD
rs1567670462 CA396796889	179	T>A		No	ClinGen Ensembl
CA8174794 rs754263324	179	T>S		No	ClinGen ExAC gnomAD
rs780396704 CA8174793	181	E>K		No	ClinGen ExAC gnomAD
rs767882711 CA8174790	182	V>A		No	ClinGen ExAC gnomAD
CA8174791 rs750990808	182	V>M		No	ClinGen ExAC gnomAD
rs751590665 CA8174788	183	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8174789 rs202002820	183	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219186809 CA396796843	186	S>F		No	ClinGen TOPMed gnomAD
rs1219186809 CA396796845	186	S>Y		No	ClinGen TOPMed gnomAD
rs775572658 CA8174785	190	K>E		No	ClinGen ExAC gnomAD
CA8174784 rs376675615	193	F>L		No	ClinGen ESP ExAC gnomAD
rs368315996 CA8174783	194	K>R		No	ClinGen ESP ExAC gnomAD
rs1261279077 CA396796779	195	Q>H		No	ClinGen TOPMed
rs1331367942 CA396796763	197	E>D		No	ClinGen gnomAD
CA396796769 rs1398010185	197	E>K		No	ClinGen TOPMed gnomAD
CA8174782 rs773241160	198	K>T		No	ClinGen ExAC TOPMed gnomAD
CA396796746 rs1427815052	200	K>E		No	ClinGen gnomAD
CA8174781 rs772094397	200	K>T		No	ClinGen ExAC gnomAD
CA396796734 rs1478549661	201	P>L		No	ClinGen gnomAD
rs1480368784 CA396796733	202	Q>K		No	ClinGen TOPMed
rs778504803 CA396796722	203	A>G		No	ClinGen ExAC TOPMed gnomAD
rs778504803 CA8174779	203	A>V		No	ClinGen ExAC TOPMed gnomAD
rs145857741 CA8174778	204	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1009919886 CA283859865	207	S>L		No	ClinGen TOPMed gnomAD
CA8174777 rs142200520	208	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8174776 rs764974873	209	L>P		No	ClinGen ExAC
rs1597380097 CA396796682	210	P>L		No	ClinGen Ensembl
CA396796685 rs1460845297	210	P>S		No	ClinGen gnomAD
CA8174775 rs147621478	211	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs750717766 CA8174774	212	L>V		No	ClinGen ExAC gnomAD
rs781735213 CA8174773	214	A>D		No	ClinGen ExAC gnomAD
CA396796656 rs1278665086	214	A>P		No	ClinGen gnomAD
CA396796644 rs1567670316	215	G>E		No	ClinGen Ensembl
CA396796648 rs1309440117 CA396796647 COSM973720	215	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated gnomAD NCI-TCGA
CA8174770 rs146975317	216	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367774683 CA396796626 CA283859767	217	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs367774683 CA8174768	217	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597319990 CA396787607	223	G>S		No	ClinGen Ensembl
CA8174750 rs752679386	223	G>V		No	ClinGen ExAC gnomAD
CA8174749 rs765517077	225	S>N		No	ClinGen ExAC TOPMed gnomAD
CA396787585 rs1264453645	226	S>N		No	ClinGen TOPMed
CA283830791 rs1032570804	227	L>P		No	ClinGen Ensembl
rs1567639891 CA396787555	230	K>N		No	ClinGen Ensembl
COSM3818567 CA396787495 rs1268954681	238	M>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
rs764084803 CA8174743	239	S>G		No	ClinGen ExAC gnomAD
CA396787482 rs1393077683	240	T>I		No	ClinGen TOPMed
rs145593544 CA8174741	242	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs561499182 CA8174738	245	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs561499182 CA8174739	245	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA396787442 rs1417410072	247	D>N		No	ClinGen gnomAD
CA396787428 rs1478725346	248	W>*		No	ClinGen gnomAD
CA396787429 rs1478725346	248	W>C		No	ClinGen gnomAD
CA8174735 rs778282606	251	F>L		No	ClinGen ExAC gnomAD
CA8174734 rs748272326	252	K>M		No	ClinGen ExAC TOPMed gnomAD
CA8174733 rs748272326	252	K>R		No	ClinGen ExAC TOPMed gnomAD
CA396787400 rs748272326	252	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1488875324 CA396787395	253	E>*		No	ClinGen Ensembl
rs139249435 CA396787389	254	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA8174732 rs139249435	254	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA8174731 rs755077989	255	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8174730 rs754062345	256	G>W		No	ClinGen ExAC gnomAD
TCGA novel	262	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8174727 rs751354280	263	I>V		No	ClinGen ExAC gnomAD
CA396787308 rs1370071201	266	R>G		No	ClinGen gnomAD
CA8174725 rs762736889	266	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762736889 CA8174726	266	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA8174724 rs752675935	269	E>K		No	ClinGen ExAC TOPMed gnomAD
CA396786218 rs753294018	272	I>F		No	ClinGen ExAC TOPMed gnomAD
CA396786217 rs753294018	272	I>L		No	ClinGen ExAC TOPMed gnomAD
CA396786215 rs1567636691	272	I>T		No	ClinGen Ensembl
CA8174701 rs753294018	272	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1484491980 CA396786206	273	E>D		No	ClinGen gnomAD
CA8174700 rs201839765	274	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1257015678 CA396786203	274	R>W		No	ClinGen gnomAD
CA396786199 rs1356230955	275	K>E		No	ClinGen TOPMed
TCGA novel	276	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA283823271 rs372165159	276	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA396786181 rs772842208	277	F>L		No	ClinGen ExAC TOPMed gnomAD
CA283823264 rs965194703	277	F>Y		No	ClinGen Ensembl
rs1312938817 CA396786174	279	D>N		No	ClinGen gnomAD
CA396786166 rs1394274250	280	R>G		No	ClinGen gnomAD
rs1381245551 CA396786164	280	R>Q		No	ClinGen gnomAD
rs1452762417 CA396786158	281	V>E		No	ClinGen gnomAD
CA283823231 rs1007151984	282	D>H		No	ClinGen gnomAD
TCGA novel	283	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952453681 CA283823222	283	H>Y		No	ClinGen Ensembl
CA8174694 rs143670943	284	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8174692 rs555739594	288	I>N		No	ClinGen 1000Genomes ExAC
CA8174693 rs749395058	288	I>V		No	ClinGen ExAC gnomAD
rs993839292 COSM1709400 CA283823172	290	R>*	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	290	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA396786097 rs1555551586	290	R>Q		No	ClinGen Ensembl
rs896854613 CA283823167	291	D>N		No	ClinGen TOPMed gnomAD
rs199815532 CA8174690	292	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758169743 CA8174688	295	S>R		No	ClinGen ExAC gnomAD
rs747932965 CA8174687	297	M>I		No	ClinGen ExAC gnomAD
TCGA novel	299	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778736960 CA8174686	300	P>R		No	ClinGen ExAC gnomAD

No associated diseases with Q9UEE9

1 regional properties for Q9UEE9

Type	Name	Position	InterPro Accession
domain	BCNT-C domain	218 - 299	IPR011421

Functions

		Description
EC Number
Subcellular Localization	Chromosome, centromere, kinetochore
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
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.
Swr1 complex	A multisubunit protein complex that is involved in chromatin remodeling. It is required for the incorporation of the histone variant H2AZ into chromatin. In S. cerevisiae, the complex contains Swr1p, a Swi2/Snf2-related ATPase, and 12 additional subunits.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
chromatin remodeling	A dynamic process of chromatin reorganization resulting in changes to chromatin structure. These changes allow DNA metabolic processes such as transcriptional regulation, DNA recombination, DNA repair, and DNA replication.
fibroblast apoptotic process	Any apoptotic process in a fibroblast, a connective tissue cell which secretes an extracellular matrix rich in collagen and other macromolecules.
negative regulation of fibroblast apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of fibroblast apoptotic process.
regulation of cell population proliferation	Any process that modulates the frequency, rate or extent of cell proliferation.
regulation of cell shape	Any process that modulates the surface configuration of a cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8HXY9	CFDP1	Craniofacial development protein 1	Bos taurus (Bovine)	PR
O88271	Cfdp1	Craniofacial development protein 1	Mus musculus (Mouse)	PR
Q75UQ2	Cfdp1	Craniofacial development protein 1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEEFDSEDFS	TSEEDEDYVP	SGGEYSEDDV	NELVKEDEVD	GEEQTQKTQG	KKRKAQSIPA
70	80	90	100	110	120
RKRRQGGLSL	EEEEEEDANS	ESEGSSSEEE	DDAAEQEKGI	GSEDARKKKE	DELWASFLND
130	140	150	160	170	180
VGPKSKVPPS	TQVKKGEETE	ETSSSKLLVK	AEELEKPKET	EKVKITKVFD	FAGEEVRVTK
190	200	210	220	230	240
EVDATSKEAK	SFFKQNEKEK	PQANVPSALP	SLPAGSGLKR	SSGMSSLLGK	IGAKKQKMST
250	260	270	280	290
LEKSKLDWES	FKEEEGIGEE	LAIHNRGKEG	YIERKAFLDR	VDHRQFEIER	DLRLSKMKP