AiPD: Autoinhibited Protein Database

Q9BYG3

Gene name	NIFK (MKI67IP, NOPP34)
Protein name	MKI67 FHA domain-interacting nucleolar phosphoprotein
Names	Nucleolar phosphoprotein Nopp34, Nucleolar protein interacting with the FHA domain of pKI-67, hNIFK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84365
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-73 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-73 (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

26 structures for Q9BYG3

Entry ID	Method	Resolution	Chain	Position	Source
2AFF	NMR	-	B	226-269	PDB
8FKP	EM	285 A	SH	1-293	PDB
8FKQ	EM	276 A	SH	1-293	PDB
8FKR	EM	289 A	SH	1-293	PDB
8FKS	EM	288 A	SH	1-293	PDB
8FKT	EM	281 A	SH	1-293	PDB
8FKU	EM	282 A	SH	1-293	PDB
8FKV	EM	247 A	SH	1-293	PDB
8FKW	EM	250 A	SH	1-293	PDB
8FKX	EM	259 A	SH	1-293	PDB
8FKY	EM	267 A	SH	1-293	PDB
8FKZ	EM	304 A	SH	1-293	PDB
8FL2	EM	267 A	SH	1-293	PDB
8FL3	EM	253 A	SH	1-293	PDB
8FL6	EM	262 A	SH	1-293	PDB
8FL7	EM	255 A	SH	1-293	PDB
8FLA	EM	263 A	SH	1-293	PDB
8FLB	EM	255 A	SH	1-293	PDB
8FLD	EM	258 A	SH	1-293	PDB
8FLE	EM	248 A	SH	1-293	PDB
8INE	EM	320 A	t	1-293	PDB
8INF	EM	300 A	t	1-293	PDB
8IPX	EM	430 A	t	1-293	PDB
8IPY	EM	320 A	t	1-293	PDB
8IR3	EM	350 A	t	1-293	PDB
AF-Q9BYG3-F1	Predicted				AlphaFoldDB

290 variants for Q9BYG3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1324714377	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371053845 CA348184448	2	A>E		No	ClinGen TOPMed
rs1377184689 CA348184445	3	T>N		No	ClinGen gnomAD
rs776277705 CA1855186	3	T>P		No	ClinGen ExAC gnomAD
TCGA novel	4	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348184433 rs1296322352	5	S>A		No	ClinGen gnomAD
rs767800636 CA1855185	5	S>F		No	ClinGen ExAC TOPMed gnomAD
CA54486408 rs944946517	7	P>L		No	ClinGen TOPMed gnomAD
CA1855183 rs774765141	7	P>S		No	ClinGen ExAC gnomAD
rs1187676264 CA348184419	8	A>T		No	ClinGen gnomAD
rs1219994570 CA348184414	8	A>V		No	ClinGen TOPMed
rs866790065 CA54486388	9	G>R		No	ClinGen Ensembl
rs769809873 CA1855179	10	P>S		No	ClinGen ExAC gnomAD
TCGA novel	10	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1855178 rs140235533	11	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754753056 CA1855176	12	L>P		No	ClinGen ExAC gnomAD
CA54486352 rs11556736	14	L>F		No	ClinGen gnomAD
rs11556736 CA348184386	14	L>V		No	ClinGen gnomAD
CA348184382 rs1319478498	15	N>H		No	ClinGen gnomAD
CA54486349 rs1043060589	16	P>L		No	ClinGen TOPMed
rs750327736 CA1855172	17	Q>R		No	ClinGen ExAC gnomAD
rs1385597160 CA348184355	18	E>D		No	ClinGen gnomAD
CA348184360 rs1399270357	18	E>K		No	ClinGen gnomAD
CA54486314 rs757374305	19	D>N		No	ClinGen gnomAD
CA348184350 rs1455475373	19	D>V		No	ClinGen gnomAD
rs1348344202 CA348184339	21	E>*		No	ClinGen TOPMed gnomAD
rs894554020 CA54486311	21	E>A		No	ClinGen TOPMed
CA54486307 rs986151288	21	E>D		No	ClinGen TOPMed gnomAD
rs1348344202 CA348184341	21	E>K		No	ClinGen TOPMed gnomAD
CA1855170 rs756785826	23	Q>H		No	ClinGen ExAC gnomAD
CA54486273 rs938789584	24	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA348184320 rs1462263187	24	K>Q		No	ClinGen gnomAD
CA348184316 TCGA novel rs1420422769	24	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA348184313 rs1428377823	25	E>K		No	ClinGen gnomAD
rs1573377136 CA348184300	26	V>G		No	ClinGen Ensembl
CA348184289 rs1353418350	28	Q>R		No	ClinGen gnomAD
rs1487249058 CA348184282	29	V>A		No	ClinGen gnomAD
rs759862125 CA1855167	29	V>I		No	ClinGen ExAC TOPMed
CA348184276 rs201646641	30	R>L		No	ClinGen gnomAD
CA54486257 rs201646641	30	R>P		No	ClinGen gnomAD
rs1395070505 CA348184273	31	K>E		No	ClinGen TOPMed
CA348184272 rs1462593906	31	K>R		No	ClinGen TOPMed
CA54486256 rs552559583	32	R>C		No	ClinGen 1000Genomes TOPMed
rs552559583 CA348184266	32	R>G		No	ClinGen 1000Genomes TOPMed
rs754108598 COSM3933306 CA54486255	32	R>H	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA1855165 rs766932290	33	I>K		No	ClinGen ExAC TOPMed gnomAD
CA1855166 rs150674424	33	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348184254 rs1375939123	34	T>S		No	ClinGen TOPMed
CA1855164 rs763466940	35	Q>E		No	ClinGen ExAC gnomAD
rs566829543 CA1855163	35	Q>R		No	ClinGen 1000Genomes ExAC
rs768559295 CA1855139	36	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA535623747 rs1397613475	37	K>I		No	ClinGen gnomAD
CA535623749 rs1319035393	37	K>R		No	ClinGen gnomAD
rs1464937139 CA348184211	39	Q>P		No	ClinGen TOPMed gnomAD
TCGA novel	41	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1855138 rs760955520	41	Q>*		No	ClinGen ExAC gnomAD
rs772012671 CA1855136	43	T>I		No	ClinGen ExAC TOPMed gnomAD
rs779030291 CA1855134	44	P>A		No	ClinGen ExAC gnomAD
rs779030291 CA1855135	44	P>S		No	ClinGen ExAC gnomAD
rs185696375 CA54485465	47	V>A		No	ClinGen Ensembl
rs748810988 CA1855132	48	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1855130 rs552347792	49	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1399143 CA54485451 rs182886627	50	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	50	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1855129 rs747866985	51	H>R		No	ClinGen ExAC gnomAD
rs1350200485 CA348184132	52	L>P		No	ClinGen gnomAD
rs1450314907 CA348184126	53	P>R		No	ClinGen TOPMed
CA1855126 rs750755805	57	D>E		No	ClinGen ExAC gnomAD
rs75350722 CA1855127	57	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA54485433 rs987185534	57	D>V		No	ClinGen TOPMed gnomAD
rs1413398077 CA348184100	58	E>K		No	ClinGen gnomAD
CA1855125 rs376581533	59	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA54485428 rs11556739	61	I>T		No	ClinGen Ensembl
rs187455320 CA54485418	62	F>L		No	ClinGen Ensembl
rs1276573609 CA348184065	63	S>P		No	ClinGen TOPMed
CA54485394 rs975345163	64	Y>*		No	ClinGen Ensembl
rs754229937 CA1855123	64	Y>H		No	ClinGen ExAC gnomAD
rs764264805 CA1855122	65	F>V		No	ClinGen ExAC gnomAD
rs1365188166 CA348184044	66	S>C		No	ClinGen gnomAD
CA348184038 rs1185135852	67	Q>P		No	ClinGen gnomAD
CA54485384 rs182249746	68	F>C		No	ClinGen Ensembl
rs760620343 CA1855121	69	G>D		No	ClinGen ExAC TOPMed gnomAD
rs775902210 CA1855120	70	T>I		No	ClinGen ExAC gnomAD
rs767813609 CA348184003	73	R>G		No	ClinGen ExAC TOPMed gnomAD
rs192791846 CA1855118	73	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767813609 CA1855119	73	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1855116 rs770578698	75	R>K		No	ClinGen ExAC gnomAD
CA348183977 rs1281553557	77	S>C		No	ClinGen TOPMed gnomAD
CA348183978 rs1281553557	77	S>Y		No	ClinGen TOPMed gnomAD
rs772986974 CA1855114	79	S>G		No	ClinGen ExAC TOPMed gnomAD
rs200294058 CA54485371	80	K>E		No	ClinGen Ensembl
rs769370287 CA1855113	80	K>R		No	ClinGen ExAC gnomAD
CA348183955 rs1294320546	81	R>G		No	ClinGen gnomAD
TCGA novel	81	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348183952 rs1417106453	81	R>T		No	ClinGen gnomAD
CA1855088 rs778406527	84	N>S		No	ClinGen ExAC gnomAD
rs144082324 CA1855087	87	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348183894 rs1334395720	88	Y>C		No	ClinGen TOPMed gnomAD
rs985554041 CA348183875	91	V>L		No	ClinGen TOPMed gnomAD
CA54483123 rs985554041	91	V>M		No	ClinGen TOPMed gnomAD
CA1855086 rs144818693	92	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1855084 rs755071631	93	F>S		No	ClinGen ExAC gnomAD
rs751855520 CA1855083	94	E>K		No	ClinGen ExAC TOPMed gnomAD
rs60119699 CA54483102	95	S>F		No	ClinGen Ensembl
CA54483105 rs113901525	95	S>P		No	ClinGen Ensembl
rs189363140 CA54483084	98	V>I		No	ClinGen Ensembl
rs750181605 CA1855080	99	A>S		No	ClinGen ExAC gnomAD
CA348183807 rs1324755351	101	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761741319 CA1855078	102	V>I		No	ClinGen ExAC gnomAD
rs768177439 CA1855076	103	A>D		No	ClinGen ExAC TOPMed gnomAD
rs768177439 CA1855077	103	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1353670262 CA348183792	104	E>A		No	ClinGen gnomAD
rs1480090793 CA348183795	104	E>K		No	ClinGen TOPMed
CA1855073 rs537381990	106	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA348183779 rs370019041	106	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1855074 rs370019041	106	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs760152882 CA1855075	106	M>V		No	ClinGen ExAC gnomAD
CA1855071 rs200871910	108	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA1855072 rs749717572	108	N>Y		No	ClinGen ExAC gnomAD
TCGA novel	109	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348183747 rs1395895669	111	F>L		No	ClinGen TOPMed gnomAD
rs1395895669 CA348183746	111	F>V		No	ClinGen TOPMed gnomAD
rs4848158 CA54483041	114	R>T		No	ClinGen Ensembl
CA348183701 rs367711469	117	E>D		No	ClinGen ESP ExAC gnomAD
CA1855069 rs748700878	117	E>G		No	ClinGen ExAC gnomAD
rs1205669218 CA348183707	117	E>K		No	ClinGen gnomAD
TCGA novel	119	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA348183671 rs1344809784	120	F>L		No	ClinGen TOPMed gnomAD
rs1160163808 CA348183656	121	M>I		No	ClinGen gnomAD
CA54482502 rs534245053	122	P>S		No	ClinGen 1000Genomes
rs1416083657 CA348183648	123	P>S		No	ClinGen gnomAD
CA1855045 rs758463007	127	H>R		No	ClinGen ExAC TOPMed gnomAD
CA1855043 rs779084152	129	E>K		No	ClinGen ExAC gnomAD
CA1855042 rs757081102	129	E>V		No	ClinGen ExAC gnomAD
CA348183597 rs1242306414	130	L>P		No	ClinGen gnomAD
rs1242306414 CA348183596	130	L>R		No	ClinGen gnomAD
rs1210160617 CA348183594	131	F>L		No	ClinGen gnomAD
rs186769629 CA54482479	133	D>H		No	ClinGen Ensembl
rs184802204 CA54482474	135	N>D		No	ClinGen Ensembl
rs764073561 CA1855039	137	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1402129510 CA348183522	140	Q>H		No	ClinGen TOPMed
CA54482452 rs927610465	141	P>L		No	ClinGen TOPMed
CA1855037 rs752616703	142	S>L		No	ClinGen ExAC gnomAD
CA54482440 rs183475059	143	Y>N		No	ClinGen Ensembl
rs17852212 VAR_027182 CA54482435	144	P>Q		No	ClinGen UniProt Ensembl dbSNP
rs548777022 CA1855035	145	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs192100700 CA54482424	146	V>A		No	ClinGen Ensembl
CA348183492 rs1289548450	146	V>L		No	ClinGen gnomAD
rs905434481 CA54482420	147	K>N		No	ClinGen Ensembl
rs773927967 CA1855034	148	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs187982757 CA54482417	148	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs766099870 CA1855033	149	Y>C		No	ClinGen ExAC gnomAD
rs182148570 CA1855031	151	R>P		No	ClinGen ExAC TOPMed gnomAD
rs182148570 CA1855030	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1855032 rs762335388	151	R>W		No	ClinGen ExAC gnomAD
CA1855028 rs776013950	153	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772093233 CA1855027 COSM218643	153	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776013950 CA1855029	153	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1855023 rs185431138	160	R>Q	Variant assessed as Somatic; 9.239e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA1855024 rs779170193	160	R>W		No	ClinGen ExAC gnomAD
rs151148873 CA1855022	163	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145402818 CA54482346	164	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1855021 rs145402818	164	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755901483 CA1855020	164	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249439586 CA348183379	165	F>C		No	ClinGen TOPMed gnomAD
rs1489364615 CA348183383	165	F>L		No	ClinGen gnomAD
rs752601808 CA1855019	166	K>*		No	ClinGen ExAC gnomAD
rs752601808 CA348183375	166	K>E		No	ClinGen ExAC gnomAD
rs1298339651 CA348183366	167	K>R		No	ClinGen gnomAD
rs549651677 CA1855018	169	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs754491308 CA1855017	170	R>*		No	ClinGen ExAC gnomAD
TCGA novel	172	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201317100 CA1855015	173	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348183298 rs1374144657	177	A>T		No	ClinGen gnomAD
rs1169925701 CA348183293	177	A>V		No	ClinGen gnomAD
rs1171570579 CA348183285	178	K>N		No	ClinGen TOPMed
rs762710813 CA1855013	179	K>N		No	ClinGen ExAC TOPMed gnomAD
rs979281738 CA54482314	179	K>R		No	ClinGen TOPMed gnomAD
CA1855012 rs375879932	181	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434571237 CA348183262	182	D>G		No	ClinGen gnomAD
rs140089025 CA1855011	183	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA348183247 rs1195018750	184	D>G		No	ClinGen gnomAD
rs1207110611 CA348183250	184	D>H		No	ClinGen gnomAD
rs1207110611 CA348183251	184	D>N		No	ClinGen gnomAD
rs564097100 CA54482297	186	P>L		No	ClinGen 1000Genomes
rs761077196 CA1855010	186	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1855008 rs772627155	187	S>F		No	ClinGen ExAC TOPMed gnomAD
rs772627155 CA1855009	187	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA348183204 rs1191717856	189	I>T		No	ClinGen TOPMed
CA348183194 rs1324129461	191	Q>K		No	ClinGen gnomAD
rs1317044728 CA348183182	192	K>R		No	ClinGen gnomAD
CA1854966 rs766844487	193	T>M		No	ClinGen ExAC TOPMed gnomAD
rs773329467 CA1854964	194	E>G		No	ClinGen ExAC gnomAD
COSM1006046 CA1854963 rs374862911	201	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs762100891 CA1854962	201	R>H		No	ClinGen ExAC gnomAD
TCGA novel	202	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1474399573 CA348183110	203	T>A		No	ClinGen gnomAD
CA1854961 rs377016579	203	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs775634772 CA1854958	204	S>F		No	ClinGen ExAC gnomAD
rs746767515 CA1854959	204	S>T		No	ClinGen ExAC gnomAD
CA54480975 rs989799905	205	T>A		No	ClinGen Ensembl
rs1291071543 CA348183077	208	Q>H		No	ClinGen TOPMed gnomAD
rs901656732 CA54480881	209	V>I		No	ClinGen Ensembl
CA1854932 rs139750791	211	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1854931 rs141833997	211	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA348183049 rs141833997	211	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1353218785 CA348183025	214	K>N		No	ClinGen TOPMed gnomAD
CA348183028 rs1468140469	214	K>R		No	ClinGen TOPMed
CA1854929 rs780403103	216	K>E		No	ClinGen ExAC gnomAD
rs779254748 CA1854927	216	K>N		No	ClinGen ExAC TOPMed gnomAD
rs758724073 CA1854928	216	K>R		No	ClinGen ExAC gnomAD
rs1181292658 CA348183011	217	V>I		No	ClinGen TOPMed
rs943268573 CA54480847	218	S>L		No	ClinGen TOPMed
rs753848593 CA1854924	219	G>A		No	ClinGen ExAC gnomAD
rs753848593 CA1854925	219	G>D		No	ClinGen ExAC gnomAD
rs369558685 CA1854923	220	T>A		No	ClinGen ESP ExAC gnomAD
rs1414052994 CA348182990	221	L>V		No	ClinGen gnomAD
rs1559904337 CA348182964	225	E>K		No	ClinGen Ensembl
rs1573372354 CA348182951	226	K>N		No	ClinGen Ensembl
CA54480836 rs775698835	226	K>T		No	ClinGen Ensembl
CA348182946 rs1468969262	227	T>I		No	ClinGen gnomAD
rs199972115 CA348182943	228	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199972115 CA1854920	228	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316608834 CA348182887	234	T>I		No	ClinGen Ensembl
rs1025656726 CA54480661	235	P>R		No	ClinGen gnomAD
CA1854895 rs762803959	237	C>S		No	ClinGen ExAC gnomAD
rs773094431 CA1854894	238	T>A		No	ClinGen ExAC gnomAD
rs1304675120 CA348182856	239	P>L		No	ClinGen TOPMed gnomAD
rs1304675120 CA348182858	239	P>R		No	ClinGen TOPMed gnomAD
CA54480651 rs181797568	240	T>A		No	ClinGen TOPMed gnomAD
CA348182851 rs1388269875	240	T>I		No	ClinGen gnomAD
CA348182821 rs1416293600	244	R>S		No	ClinGen gnomAD
CA1854892 rs189181268	245	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA1854890 rs184638564	245	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1854889 rs570124403	246	K>T		No	ClinGen 1000Genomes ExAC gnomAD
RCV000893128 rs561007941	248	Q>missing		No	ClinVar dbSNP
CA348182803 rs181964660	248	Q>*		No	ClinGen TOPMed gnomAD
rs181964660 CA54480627	248	Q>E		No	ClinGen TOPMed gnomAD
rs199840092 CA54480620	249	V>A		No	ClinGen 1000Genomes
rs201712038 CA1854887	249	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA348182785 rs1467001205	251	E>Q		No	ClinGen gnomAD
rs184508752 CA54480617	252	L>M		No	ClinGen Ensembl
CA1854884 rs200539941	253	N>S		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs200539941 CA1854885	253	N>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA1854883 rs756299604	254	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1854882 rs748236848	256	D>N		No	ClinGen ExAC gnomAD
rs192831906 CA54480602	257	K>E		No	ClinGen Ensembl
CA54480598 rs187992008	259	D>N		No	ClinGen Ensembl
rs781538654 CA1854881	261	I>T		No	ClinGen ExAC gnomAD
rs199696422 CA1854880	262	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751742282 CA1854879	264	K>Q		No	ClinGen ExAC gnomAD
CA1854878 rs540898996	265	Q>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA348182690 rs540898996	265	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185171521 CA54480563	267	I>V		No	ClinGen TOPMed gnomAD
CA348182668 rs1286672820	268	S>C		No	ClinGen gnomAD
CA1854875 rs780014703	269	C>*		No	ClinGen ExAC
CA1854877 rs377258317	269	C>G		No	ClinGen ESP ExAC gnomAD
rs750413051 CA1854876	269	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA1854874 rs149396377	271	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs913903284 CA54480554	272	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA348182625 rs1448401259	275	Q>K		No	ClinGen gnomAD
rs761368902 CA1854873	275	Q>P		No	ClinGen ExAC gnomAD
rs192223845 CA54480534	276	E>D		No	ClinGen Ensembl
rs763588598 CA1854871	277	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	278	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1854870 rs760272804	278	Q>E		No	ClinGen ExAC gnomAD
CA1854869 rs775158986	278	Q>R		No	ClinGen ExAC
rs771247461 CA1854868	279	T>I		No	ClinGen ExAC gnomAD
rs748608973 CA1854864	280	P>L		No	ClinGen ExAC gnomAD
rs748608973 CA1854865	280	P>R		No	ClinGen ExAC gnomAD
CA1854866 rs773921168	280	P>S		No	ClinGen ExAC TOPMed gnomAD
rs773921168 CA348182595	280	P>T		No	ClinGen ExAC TOPMed gnomAD
CA348182591 rs1573371953	281	T>A		No	ClinGen Ensembl
rs1275475593 COSM1215126 CA348182583	282	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA348182578 rs1463368862	283	S>A		No	ClinGen gnomAD
CA348182572 rs755049678	284	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1006044 CA54480492 rs187635665	284	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755049678 CA1854862	284	R>W		No	ClinGen ExAC TOPMed gnomAD
rs747222410 CA1854861	287	R>G		No	ClinGen ExAC gnomAD
COSM1006043 rs147757149 CA1854859	288	R>*	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs370998435 CA1854858	288	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370998435 CA1854857	288	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559903967 CA348182542	289	R>K		No	ClinGen Ensembl
CA1854855 rs543620300	289	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA54480474 rs183303856	290	S>N		No	ClinGen Ensembl
rs112441424 CA1854854 CA54480472	290	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA348182521 rs1464354979	292	N>S		No	ClinGen gnomAD
rs186765150 CA54480464	293	Q>*		No	ClinGen gnomAD
CA348182512 rs1434732985	293	Q>H		No	ClinGen gnomAD
CA1854852 rs760210456	293	Q>R		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q9BYG3

2 regional properties for Q9BYG3

Type	Name	Position	InterPro Accession
domain	RNA recognition motif domain	45 - 123	IPR000504
domain	MKI67 FHA domain-interacting nucleolar phosphoprotein, FHA Ki67 binding	227 - 266	IPR021043

Functions

		Description
EC Number
Subcellular Localization	Nucleus, nucleolus Chromosome	Localizes to mitotic chromosomes in conjunction with MKI67
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.
condensed nuclear chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

1 GO annotations of molecular function

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

4 GO annotations of biological process

Name	Definition
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule from the pre-rRNA molecule originally produced as a tricistronic rRNA transcript that contains the Small Subunit (SSU) rRNA, 5.8S rRNA, and Large Subunit (LSU) in that order from 5' to 3' along the primary transcript.
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.
rRNA metabolic process	The chemical reactions and pathways involving rRNA, ribosomal RNA, a structural constituent of ribosomes.
rRNA transcription	The synthesis of ribosomal RNA (rRNA), any RNA that forms part of the ribosomal structure, from a DNA template.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SZM1	NIFK	MKI67 FHA domain-interacting nucleolar phosphoprotein	Bos taurus (Bovine)	PR
Q8JIY8	nifk	MKI67 FHA domain-interacting nucleolar phosphoprotein	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MATFSGPAGP	ILSLNPQEDV	EFQKEVAQVR	KRITQRKKQE	QLTPGVVYVR	HLPNLLDETQ
70	80	90	100	110	120
IFSYFSQFGT	VTRFRLSRSK	RTGNSKGYAF	VEFESEDVAK	IVAETMNNYL	FGERLLECHF
130	140	150	160	170	180
MPPEKVHKEL	FKDWNIPFKQ	PSYPSVKRYN	RNRTLTQKLR	MEERFKKKER	LLRKKLAKKG
190	200	210	220	230	240
IDYDFPSLIL	QKTESISKTN	RQTSTKGQVL	RKKKKKVSGT	LDTPEKTVDS	QGPTPVCTPT
250	260	270	280	290
FLERRKSQVA	ELNDDDKDDE	IVFKQPISCV	KEEIQETQTP	THSRKKRRRS	SNQ