AiPD: Autoinhibited Protein Database

Q9BVJ6

Gene name	UTP14A (SDCCAG16)
Protein name	U3 small nucleolar RNA-associated protein 14 homolog A
Names	Antigen NY-CO-16, Serologically defined colon cancer antigen 16
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10813
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-114 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-114 (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

5 structures for Q9BVJ6

Entry ID	Method	Resolution	Chain	Position	Source
7MQ8	EM	360 A	SS	1-771	PDB
7MQ9	EM	387 A	SS	1-771	PDB
7MQA	EM	270 A	SS	1-771	PDB
7WTS	EM	320 A	5	1-771	PDB
AF-Q9BVJ6-F1	Predicted				AlphaFoldDB

379 variants for Q9BVJ6

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10513608 rs748339633	2	T>I		No	ClinGen ExAC TOPMed gnomAD
CA335722742 rs980286357	5	R>P		No	ClinGen TOPMed
rs1010736942 CA414627794	6	L>F		No	ClinGen TOPMed
CA335722743 rs1010736942	6	L>V		No	ClinGen TOPMed
CA10513610 rs773333729	7	A>T		No	ClinGen ExAC gnomAD
CA414627872 rs1402001543	8	E>D		No	ClinGen gnomAD
TCGA novel	10	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513630 rs777902752	12	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10513629 rs777902752	12	A>T		No	ClinGen ExAC TOPMed gnomAD
rs147807871 CA10513631	13	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	14	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414629478 rs1384567244	14	S>R		No	ClinGen gnomAD
CA335722825 rs925009957	16	Q>E		No	ClinGen TOPMed gnomAD
rs1312842953 CA414629525	17	E>K		No	ClinGen gnomAD
CA414629591 rs776852636	20	A>E		No	ClinGen ExAC TOPMed gnomAD
CA10513632 rs776852636	20	A>V		No	ClinGen ExAC TOPMed gnomAD
CA414629592 rs1413340377	21	D>N		No	ClinGen TOPMed
TCGA novel	25	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414629722 rs1425275859	27	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA414629788 rs762926058	30	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10513633 rs762926058	30	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	30	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs931957534 CA335722828	30	E>Q		No	ClinGen Ensembl
TCGA novel	35	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1225079299 CA414630156	36	D>G		No	ClinGen gnomAD
rs747132410 CA414630138	36	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10513648 rs747132410	36	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA414630226 rs1212556805	38	D>G		No	ClinGen gnomAD
CA10513649 rs757565993	38	D>N		No	ClinGen ExAC TOPMed gnomAD
rs201734952 CA414630297	41	R>I		No	ClinGen gnomAD
CA335722890 rs201734952	41	R>K		No	ClinGen gnomAD
TCGA novel	41	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440668630 CA414630341	42	K>R		No	ClinGen TOPMed
rs1422030325 CA414630355	43	H>Y		No	ClinGen gnomAD
rs148845598 CA10513652	45	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10513653 rs774205938	45	K>T		No	ClinGen ExAC gnomAD
rs773178664 CA335722891	46	L>F		No	ClinGen Ensembl
TCGA novel	49	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972187330 CA335722892	51	S>I		No	ClinGen Ensembl
rs1210915581 CA414630537	52	S>Y		No	ClinGen TOPMed
rs1385368183 CA414630598	54	D>V		No	ClinGen TOPMed gnomAD
rs748141404 CA10513654	57	N>D		No	ClinGen ExAC TOPMed gnomAD
rs143564742 CA10513671	59	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513670 rs188896474	59	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs148026094 CA10513672	61	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447638425 CA414630748	62	A>V		No	ClinGen TOPMed
CA10513673 rs201224415	65	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1384927940 CA414630913	69	L>P		No	ClinGen gnomAD
rs1444423111 CA414630955	71	V>M		No	ClinGen gnomAD
CA10513674 rs559624014	75	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10513675 rs746876722	77	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	78	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513686 rs750636318	87	L>F		No	ClinGen ExAC gnomAD
TCGA novel	89	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513687 rs371478707	91	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA414631685 rs1365772235	92	E>D		No	ClinGen gnomAD
CA335723109 rs1008694301	92	E>Q		No	ClinGen TOPMed
CA10513688 rs141794617	96	T>I		No	ClinGen ESP ExAC TOPMed
CA10513689 rs375762663	104	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA414632054 rs1284372138	109	R>G		No	ClinGen gnomAD
rs927725469 CA335723110	109	R>K		No	ClinGen TOPMed gnomAD
CA414632229 rs1197368486	115	T>I		No	ClinGen TOPMed gnomAD
VAR_078693	120	L>del		No	UniProt
rs777810656 CA10513691	125	I>T		No	ClinGen ExAC gnomAD
rs920163358 CA335723111	126	E>V		No	ClinGen TOPMed
CA414632524 rs1244427496	127	R>Q		No	ClinGen gnomAD
CA10513692 rs746967917	127	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA414633866 rs1217189654	129	H>R		No	ClinGen gnomAD
CA10513703 rs767928833	132	V>A		No	ClinGen ExAC TOPMed gnomAD
rs767928833 CA414633947	132	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1269920175 CA414633946	132	V>L		No	ClinGen gnomAD
rs1040171730 CA335723159	134	F>S		No	ClinGen Ensembl
TCGA novel	136	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513705 rs150155910	138	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10513706 rs61744002 RCV000910709	140	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs867963568 CA335723160	142	S>F		No	ClinGen Ensembl
rs1350041701 CA414634210	143	K>T		No	ClinGen gnomAD
CA10513708 rs141992449	146	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513709 COSM203660 rs749551821	148	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	151	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335723161 rs1050104679	152	R>Q		No	ClinGen TOPMed
rs751428700 CA10513710	152	R>W		No	ClinGen ExAC gnomAD
TCGA novel	153	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414634512 rs1476369159	154	A>T		No	ClinGen gnomAD
rs187846081 CA335723162	156	Q>*		No	ClinGen 1000Genomes
rs1424095042 CA414634620	159	F>L		No	ClinGen gnomAD
rs745728415 CA10513713	160	P>S		No	ClinGen ExAC gnomAD
TCGA novel	162	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513715 rs779805063	164	E>K		No	ClinGen ExAC gnomAD
rs944025745 CA335723163	164	E>V		No	ClinGen TOPMed
rs1037099915 CA335723164	166	P>S		No	ClinGen TOPMed gnomAD
rs202078352 CA10513716	168	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	169	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513717 rs768172768	171	I>T		No	ClinGen ExAC gnomAD
rs774004577 CA10513718	174	V>E		No	ClinGen ExAC gnomAD
CA414634907 rs1351084646	175	L>F		No	ClinGen gnomAD
TCGA novel	175	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414634926 rs1360154990	176	S>G		No	ClinGen TOPMed
CA10513722 rs761144991	177	G>S		No	ClinGen ExAC gnomAD
rs983386040 CA335723763	180	A>T		No	ClinGen TOPMed gnomAD
rs747698613 CA10513740	186	Q>E		No	ClinGen ExAC gnomAD
rs772698111 CA10513741	187	E>D		No	ClinGen ExAC gnomAD
TCGA novel	187	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513742 rs377025264	190	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377025264 CA414637282	190	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA414637272 rs1307012382	190	N>Y		No	ClinGen gnomAD
CA414637301 rs1282438478	191	L>H		No	ClinGen gnomAD
CA414637294 rs1221259288	191	L>I		No	ClinGen gnomAD
rs747480027 CA10513743	194	K>E		No	ClinGen ExAC TOPMed gnomAD
CA414637505 rs1302805731	199	V>M		No	ClinGen TOPMed
rs1373526254 CA414637534	200	T>I		No	ClinGen TOPMed
TCGA novel	203	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776884692 CA10513745	205	T>A		No	ClinGen ExAC TOPMed gnomAD
CA414637648 rs1480232455	205	T>N		No	ClinGen gnomAD
CA10513746 rs759783711	206	P>H		No	ClinGen ExAC TOPMed gnomAD
CA414637669 rs759783711	206	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1251274953 CA414637685	207	V>M		No	ClinGen TOPMed gnomAD
rs765485616 CA10513747	208	E>K		No	ClinGen ExAC gnomAD
rs775545086 CA10513748	209	K>T		No	ClinGen ExAC gnomAD
CA10513749 rs201033786	211	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201033786 CA10513750	211	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1480965646 CA414637826	213	R>G		No	ClinGen gnomAD
rs370007411 CA10513751	213	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs756036226 CA10513752	215	M>T		No	ClinGen ExAC gnomAD
rs780895698 CA335723765	216	S>I		No	ClinGen Ensembl
rs1393915561 CA414637991	219	E>V		No	ClinGen TOPMed
TCGA novel	223	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335723770 rs1051271059	223	R>Q		No	ClinGen Ensembl
rs1226987190 CA414638154	226	E>A		No	ClinGen TOPMed
CA10513760 rs747503850	229	R>G		No	ClinGen ExAC gnomAD
TCGA novel	229	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414638236 rs1326741732	231	R>Q		No	ClinGen TOPMed
rs777024779 CA10513762	238	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1374349050 CA414639469	242	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	245	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769991239 CA10513764	247	I>N		No	ClinGen ExAC gnomAD
CA335723771 rs1007108277	249	S>R		No	ClinGen Ensembl
CA10513787 rs35183830	256	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414639670 rs1383583388	268	F>V		No	ClinGen gnomAD
rs776369718 CA10513789	269	E>V		No	ClinGen ExAC gnomAD
CA414639697 rs139643161	272	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513792 rs139643161	272	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513791 rs139643161	272	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513790 rs759581297 COSM3424451	272	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA414639704 rs1603013356	273	K>N		No	ClinGen Ensembl
CA10513793 rs762666055	274	V>F		No	ClinGen ExAC TOPMed gnomAD
rs751069185 CA10513795	276	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10513794 rs200439919	276	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1473486346 CA414639838	282	E>D		No	ClinGen gnomAD
CA414639848 rs1175189630	283	L>R		No	ClinGen gnomAD
rs761006013 CA10513796	286	I>T		No	ClinGen ExAC TOPMed gnomAD
rs780758428 CA10513797	292	M>T		No	ClinGen ExAC TOPMed gnomAD
rs868734557 CA335723841	294	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1431376410 CA414640231	300	Q>H		No	ClinGen gnomAD
CA414640241 rs1370189529	302	S>R		No	ClinGen TOPMed
TCGA novel	307	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414640405 rs1326970999	311	I>V		No	ClinGen gnomAD
CA10513816 rs756787944	312	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA414640651 rs1170494343	320	R>C		No	ClinGen gnomAD
rs372650402 CA10513829	320	R>L		No	ClinGen ESP ExAC gnomAD
rs372650402 CA414640658	320	R>P		No	ClinGen ESP ExAC gnomAD
CA414640677 rs1404526264	321	Q>P		No	ClinGen gnomAD
rs1191551395 CA414640692	322	A>S		No	ClinGen TOPMed
CA10513831 rs769843005	322	A>V		No	ClinGen ExAC TOPMed gnomAD
rs775511979 CA10513832	326	Q>R		No	ClinGen ExAC gnomAD
rs1264599911 CA414640861	330	N>K		No	ClinGen TOPMed
CA10513834 rs768295797	334	T>I		No	ClinGen ExAC gnomAD
CA414640937 rs1229986961	335	Q>E		No	ClinGen TOPMed gnomAD
rs774217817 CA10513835	335	Q>H		No	ClinGen ExAC gnomAD
CA414640939 rs1229986961	335	Q>K		No	ClinGen TOPMed gnomAD
rs1294749413 CA414640982	337	L>P		No	ClinGen gnomAD
rs983028212 CA335723866	346	E>A		No	ClinGen Ensembl
rs760232790 CA10513839	347	E>D		No	ClinGen ExAC gnomAD
rs1192467281 CA414641203	349	G>C		No	ClinGen gnomAD
rs748405374 CA10513840	352	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA10513841 rs754271995	353	V>E		No	ClinGen ExAC gnomAD
rs908776591 CA335723867	354	E>Q		No	ClinGen TOPMed
TCGA novel	355	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414641350 rs1190627856	355	E>D		No	ClinGen gnomAD
rs755536963 CA10513842	358	V>I		No	ClinGen ExAC gnomAD
rs1056054155 CA335723870	361	V>I		No	ClinGen gnomAD
TCGA novel	364	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753150099 CA10513844	369	A>T		No	ClinGen ExAC gnomAD
CA414641816 rs1312332369	371	G>E		No	ClinGen gnomAD
CA335723871 rs896275603	372	P>L		No	ClinGen gnomAD
CA414641846 rs896275603	372	P>R		No	ClinGen gnomAD
CA10513847 rs773323326	374	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1354228412 CA414641957	375	W>C		No	ClinGen TOPMed
rs1348018178 CA414641921	375	W>G		No	ClinGen gnomAD
TCGA novel	382	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513850 rs749132506	382	S>R		No	ClinGen ExAC gnomAD
CA10513851 rs747118440	385	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10513852 rs769768009	387	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA414642312 rs1603014672	387	A>V		No	ClinGen Ensembl
CA10513853 rs748040973	388	A>T		No	ClinGen ExAC gnomAD
rs201204218 CA10513854	396	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	397	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414642751 rs1424786865	402	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	407	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513855 rs772790935	411	E>G		No	ClinGen ExAC gnomAD
CA10513856 rs760320641	414	V>A		No	ClinGen ExAC gnomAD
CA414643067 rs1256869808	415	A>V		No	ClinGen TOPMed
CA10513859 rs759933719	416	E>K		No	ClinGen ExAC gnomAD
TCGA novel	416	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199704867 CA10513860	417	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10513861 rs752994184	421	L>F		No	ClinGen ExAC TOPMed gnomAD
CA414643245 rs1474925941	422	R>G		No	ClinGen gnomAD
rs1186010196 CA414643252	422	R>K		No	ClinGen TOPMed gnomAD
rs1186010196 CA414643257	422	R>T		No	ClinGen TOPMed gnomAD
rs375022750 CA10513862	423	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
rs1001094491 CA335723872	431	R>K		No	ClinGen Ensembl
CA10513863 rs761534056	435	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA335723873 rs1030940759	435	E>K		No	ClinGen Ensembl
CA414643764 rs1201126907	441	E>K		No	ClinGen gnomAD
CA414643807 rs1436332820	442	P>S		No	ClinGen gnomAD
rs376348396 CA10513866	443	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs767130351 CA10513868	445	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10513869 rs778966348	446	Q>H		No	ClinGen ExAC gnomAD
CA10513870 rs748046320	447	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1466962016 CA414644012	449	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	453	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414646795 rs1603018400 COSM1465558	455	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA10513887 rs767918400	455	E>G		No	ClinGen ExAC TOPMed gnomAD
CA414646810 rs1302350608	457	L>V		No	ClinGen gnomAD
rs752637329 CA10513891	460	L>F		No	ClinGen ExAC TOPMed gnomAD
rs766370446 CA10513890	460	L>M		No	ClinGen ExAC gnomAD
CA10513892 rs758350635	461	R>G		No	ClinGen ExAC gnomAD
rs1227783096 CA414646885	461	R>K		No	ClinGen gnomAD
rs746876772 CA10513894	466	K>E		No	ClinGen ExAC TOPMed gnomAD
CA335724090 rs944158901	471	H>R		No	ClinGen TOPMed gnomAD
rs780842376 CA10513896	473	S>C		No	ClinGen ExAC gnomAD
CA414647091 rs1193219579	474	R>K		No	ClinGen gnomAD
rs1260276282 CA414647122	476	Q>*		No	ClinGen gnomAD
CA10513897 rs745512412	481	E>K		No	ClinGen ExAC TOPMed gnomAD
rs769309124 CA10513898	484	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10513899 VAR_022811 rs2281278	487	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1275996018 CA414647332	488	Q>R		No	ClinGen gnomAD
CA10513900 rs749790558	492	P>H		No	ClinGen ExAC TOPMed gnomAD
CA414647410 rs749790558	492	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1569340699 CA414647442	494	P>L		No	ClinGen Ensembl
CA414647434 rs1162525910	494	P>S		No	ClinGen gnomAD
rs769326266 CA10513902	495	E>K		No	ClinGen ExAC
TCGA novel	496	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350325113 CA414647505	498	E>K		No	ClinGen gnomAD
rs188468098 CA10513903	501	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10513904 rs762323346	502	L>I		No	ClinGen ExAC gnomAD
rs1435676252 CA414647576	503	Q>E		No	ClinGen gnomAD
rs767784445 CA10513905	504	R>G		No	ClinGen ExAC gnomAD
CA414647606 rs1208910746	505	P>S		No	ClinGen gnomAD
rs1303888092 CA414647626	506	E>D		No	ClinGen TOPMed
CA10513906 rs773413478	507	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10513908 rs370535948	508	V>A		No	ClinGen ESP ExAC
rs377587149 CA10513907	508	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs147945006 CA10513909	510	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA414647685 rs1409912329	511	L>P		No	ClinGen TOPMed
CA10513911 rs764081312	513	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1170714089 CA414647703	513	E>K		No	ClinGen TOPMed
rs751514363 CA10513912	515	E>D		No	ClinGen ExAC gnomAD
TCGA novel	515	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259287485 CA414647732	515	E>V		No	ClinGen TOPMed gnomAD
rs756983007 CA10513913	517	L>V		No	ClinGen ExAC gnomAD
rs780882471 CA10513914	518	G>A		No	ClinGen ExAC gnomAD
CA335724092 rs1048565379	520	E>V		No	ClinGen TOPMed
rs745477610 CA10513916	521	E>Q		No	ClinGen ExAC
rs1603018785 CA414647826	522	C>Y		No	ClinGen Ensembl
CA10513917 rs755771949	525	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	531	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513919 rs140177682	535	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs180846912 CA10513918	535	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA414648023 rs1156707201	536	Q>R		No	ClinGen gnomAD
CA10513920 rs769273119	539	E>A		No	ClinGen ExAC gnomAD
TCGA novel	540	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774939308 CA10513921	541	T>I		No	ClinGen ExAC gnomAD
rs748668269 CA414648105	542	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10513922 rs748668269	542	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	542	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	543	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1217954784 CA414648145	545	R>C		No	ClinGen TOPMed
CA10513923 rs199650206	545	R>H	Variant assessed as Somatic; 0.001437 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs760953356 CA10513924	553	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10513925 rs766685919	556	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs766579496 CA10513926	559	I>V		No	ClinGen ExAC TOPMed gnomAD
CA414648390 rs1314213641	563	N>D		No	ClinGen gnomAD
CA10513929 rs765307617	563	N>K		No	ClinGen ExAC gnomAD
rs1237514427 CA414648497	572	V>L		No	ClinGen TOPMed gnomAD
CA414648494 rs1237514427	572	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1406645026 CA414648526	574	S>F		No	ClinGen TOPMed
CA414648522 rs1406645026	574	S>Y		No	ClinGen TOPMed
rs767321793 CA10513932	575	L>S		No	ClinGen ExAC gnomAD
CA414648550 rs1175098834	576	A>V		No	ClinGen TOPMed gnomAD
rs373172796 CA10513933	579	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs755785830 CA10513934	580	I>T		No	ClinGen ExAC TOPMed gnomAD
rs906861975 CA335724094	581	E>D		No	ClinGen TOPMed
rs779908760 CA10513935	582	E>K		No	ClinGen ExAC TOPMed gnomAD
CA335724120 rs928310982	584	E>G		No	ClinGen TOPMed
CA414648739 rs1437650623	588	E>K		No	ClinGen TOPMed
rs1168345206 CA414648761	589	R>I		No	ClinGen TOPMed gnomAD
CA414648758 rs1168345206	589	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	594	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	600	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513949 rs767422423	603	D>G		No	ClinGen ExAC gnomAD
TCGA novel	607	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414649045 rs1436471896	612	K>N		No	ClinGen gnomAD
CA414649099 rs1232154443	616	V>L		No	ClinGen TOPMed gnomAD
rs1232154443 CA414649096	616	V>M		No	ClinGen TOPMed gnomAD
CA10513953 rs45451495	624	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754696456 CA10513954	625	D>A		No	ClinGen ExAC gnomAD
TCGA novel	627	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513956 rs752186798	631	W>G		No	ClinGen ExAC gnomAD
rs758937030 CA10513957	633	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10513958 rs778086926	635	G>C		No	ClinGen ExAC
CA414649518 rs1186794604	643	A>T		No	ClinGen gnomAD
rs747560711 CA10513960	645	K>E		No	ClinGen ExAC gnomAD
rs771163573 CA10513961	647	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781559859 CA10513962	647	R>H		No	ClinGen ExAC gnomAD
TCGA novel	648	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10513963 rs746068647	648	R>W		No	ClinGen ExAC TOPMed gnomAD
CA414649770 rs1252093368	655	E>Q		No	ClinGen TOPMed
CA414649794 rs1219767018	656	G>D		No	ClinGen TOPMed
rs751965941 CA10513979	658	P>L		No	ClinGen ExAC gnomAD
rs757810996 CA10513980	659	R>I		No	ClinGen ExAC gnomAD
TCGA novel	659	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA335724127 rs984199545	661	D>V		No	ClinGen TOPMed
TCGA novel	661	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	663	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867109551 CA335724128	665	P>A		No	ClinGen TOPMed
rs867109551 CA335724129	665	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10513981 rs781506329	670	N>D		No	ClinGen ExAC gnomAD
CA414649906 rs1339539224	670	N>S		No	ClinGen gnomAD
CA414649917 rs1285790173	671	E>D		No	ClinGen gnomAD
CA414649922 rs1370045948	672	K>R		No	ClinGen Ensembl
rs1247104241 CA414649929	673	R>H		No	ClinGen TOPMed
CA414649934 rs1370746154	674	N>D		No	ClinGen gnomAD
CA10513983 rs150314190	676	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA335724130 rs982250056 COSM1114933	677	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs371498663 CA10513985	679	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10513999 rs768071526	683	R>Q		No	ClinGen ExAC gnomAD
CA10514000 rs750939669	687	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA414650409 rs1356736230	688	P>L		No	ClinGen TOPMed
TCGA novel	690	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA414650454 rs1603023995	691	H>Y		No	ClinGen Ensembl
rs1482170250 CA414650547	695	F>C		No	ClinGen TOPMed gnomAD
CA414650545 COSM1114937 rs1482170250	695	F>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs369835978 CA10514005	701	T>I		No	ClinGen ESP ExAC gnomAD
rs369835978 CA10514004	701	T>N		No	ClinGen ESP ExAC gnomAD
CA414650869 rs1471695509	713	F>L		No	ClinGen TOPMed
CA335724310 rs375518568	719	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10514007 rs375518568	719	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748302359 CA10514006	719	P>S		No	ClinGen ExAC gnomAD
CA414651022 rs1365163755	720	K>T		No	ClinGen gnomAD
rs145004770 CA10514010	722	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs866910927 CA335724311	727	H>N		No	ClinGen Ensembl
CA10514013 rs768422067	728	I>V		No	ClinGen ExAC gnomAD
CA335724312 rs1055024	730	N>K		No	ClinGen Ensembl
rs1569342352 CA414651402	737	V>M		No	ClinGen Ensembl
CA10514016 rs1055027	740	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10514015 rs761256747	740	R>W		No	ClinGen ExAC TOPMed gnomAD
CA414651459 rs1274583053	741	S>Y		No	ClinGen TOPMed
rs1327968802 CA414651508	745	S>L		No	ClinGen TOPMed
CA10514018 rs750888297	747	L>V		No	ClinGen ExAC gnomAD
CA335724317 rs1055029	748	S>P		No	ClinGen Ensembl
rs761193173 CA10514019	749	V>I		No	ClinGen ExAC gnomAD
CA335724318 rs754266108 CA10514021	751	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA10514020 rs138781051	751	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs141835123 CA10514023	753	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA414651739 rs1434214841	756	R>*		No	ClinGen gnomAD
CA414651742 rs1200418352	756	R>Q		No	ClinGen TOPMed gnomAD
CA10514024 rs779149408	757	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA10514025 rs752898139	759	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10514026 rs778024628	760	R>C		No	ClinGen ExAC TOPMed
rs745781221 CA10514027	760	R>H		No	ClinGen ExAC gnomAD
rs1055030 CA335724319	762	K>N		No	ClinGen Ensembl
TCGA novel	763	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411463283 CA414651849	763	K>R		No	ClinGen TOPMed
rs1055031 CA335724320	768	C>S		No	ClinGen Ensembl
CA414651922 rs1371951179	768	C>W		No	ClinGen gnomAD
VAR_069181 rs1055032 CA335724321	771	D>G		No	ClinGen UniProt Ensembl dbSNP
rs1055033 CA335724322	772	D>C		No	ClinGen TOPMed gnomAD
CA414651972 rs1055033	772	D>W		No	ClinGen TOPMed gnomAD

No associated diseases with Q9BVJ6

No regional properties for Q9BVJ6

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9BVJ6

Functions

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

4 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
small-subunit processome	A large ribonucleoprotein complex that is an early preribosomal complex. In S. cerevisiae, it has a size of 80S and consists of the 35S pre-rRNA, early-associating ribosomal proteins most of which are part of the small ribosomal subunit, the U3 snoRNA and associated proteins.

1 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.

1 GO annotations of biological process

Name	Definition
rRNA processing	Any process involved in the conversion of a primary ribosomal RNA (rRNA) transcript into one or more mature rRNA molecules.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5TAP6	UTP14C	U3 small nucleolar RNA-associated protein 14 homolog C	Homo sapiens (Human)	PR
Q640M1	Utp14a	U3 small nucleolar RNA-associated protein 14 homolog A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTANRLAESL	LALSQQEELA	DLPKDYLLSE	SEDEGDNDGE	RKHQKLLEAI	SSLDGKNRRK
70	80	90	100	110	120
LAERSEASLK	VSEFNVSSEG	SGEKLVLADL	LEPVKTSSSL	ATVKKQLSRV	KSKKTVELPL
130	140	150	160	170	180
NKEEIERIHR	EVAFNKTAQV	LSKWDPVVLK	NRQAEQLVFP	LEKEEPAIAP	IEHVLSGWKA
190	200	210	220	230	240
RTPLEQEIFN	LLHKNKQPVT	DPLLTPVEKA	SLRAMSLEEA	KMRRAELQRA	RALQSYYEAK
250	260	270	280	290	300
ARREKKIKSK	KYHKVVKKGK	AKKALKEFEQ	LRKVNPAAAL	EELEKIEKAR	MMERMSLKHQ
310	320	330	340	350	360
NSGKWAKSKA	IMAKYDLEAR	QAMQEQLSKN	KELTQKLQVA	SESEEEEGGT	EDVEELLVPD
370	380	390	400	410	420
VVNEVQMNAD	GPNPWMLRSC	TSDTKEAATQ	EDPEQLPELE	AHGVSESEGE	ERPVAEEEIL
430	440	450	460	470	480
LREFEERRSL	RKRSELSQDA	EPAGSQETKD	SGSQEVLSEL	RVLSQKLKEN	HQSRKQKASS
490	500	510	520	530	540
EGTIPQVQRE	EPAPEEEEPL	LLQRPERVQT	LEELEELGKE	ECFQNKELPR	PVLEGQQSER
550	560	570	580	590	600
TPNNRPDAPK	EKKKKEQMID	LQNLLTTQSP	SVKSLAVPTI	EELEDEEERN	HRQMIKEAFA
610	620	630	640	650	660
GDDVIRDFLK	EKREAVEASK	PKDVDLTLPG	WGEWGGVGLK	PSAKKRRRFL	IKAPEGPPRK
670	680	690	700	710	720
DKNLPNVIIN	EKRNIHAAAH	QVRVLPYPFT	HHWQFERTIQ	TPIGSTWNTQ	RAFQKLTTPK
730	740	750	760	770
VVTKPGHIIN	PIKAEDVGYR	SSSRSDLSVI	QRNPKRITTR	HKKQLKKCSV	D