AiPD: Autoinhibited Protein Database

P41002

Gene name	CCNF (FBX1, FBXO1)
Protein name	Cyclin-F
Names	F-box only protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:899
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

525-599 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

525-599 (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 P41002

Entry ID	Method	Resolution	Chain	Position	Source
AF-P41002-F1	Predicted				AlphaFoldDB

696 variants for P41002

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA276807492 rs944306963 VAR_085177	3	S>G	FTDALS5; unknown pathological significance; impaired degradation by the ubiquitin proteasome system (UPS) [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_085178 rs1465313712 CA394342114 RCV001262761	97	K>R	FTDALS5; unknown pathological significance; impaired degradation by the ubiquitin proteasome system (UPS) [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_085179 CA7842114 rs745821656	181	T>I	FTDALS5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_085180 rs1371569927 CA394343898 RCV001281086	195	S>R	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 FTDALS5; impaired degradation by the ubiquitin proteasome system (UPS) [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_085181 RCV001281087 CA276812362 rs954539468	392	R>T	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 FTDALS5; unknown pathological significance; impaired degradation by the ubiquitin proteasome system (UPS) [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_085182 CA7842604 rs760953006	509	S>P	FTDALS5; unknown pathological significance; impaired degradation by the ubiquitin proteasome system (UPS) [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs756914411 VAR_085183 CA7842653	543	T>I	FTDALS5; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV001281085 VAR_085184 rs778264897 CA7842751	621	S>G	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 FTDALS5; increased 'Lys-48'-linked polyubiquitination of proteins targeted for proteasomal degradation, but no increase in 'Lys-63'-linked polyubiquitinated proteins; accumulation of ubiquitinated proteins including RRM2 and TARDBP/TDP43; impaired autophagosome-lysosome fusion; impaired degradation by the ubiquitin proteasome system (UPS); increased levels of ubiquitinated autophagy receptor SQSTM1/p62 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs771621178 CA7842754 VAR_085185 RCV001281088	624	E>K	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 FTDALS5; impaired degradation by the ubiquitin proteasome system (UPS) [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP
CA7842870 VAR_085186 rs762663630	772	I>T	FTDALS5; unknown pathological significance; impaired degradation by the ubiquitin proteasome system (UPS) [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA394337832 rs1171871439	2	G>R		No	ClinGen TOPMed
CA394337837 rs1477727557	2	G>V		No	ClinGen TOPMed gnomAD
CA394337834 rs1171871439	2	G>W		No	ClinGen TOPMed
CA394337842 rs1402682046	3	S>I		No	ClinGen gnomAD
CA394337843 rs1472073974	3	S>R		No	ClinGen TOPMed
rs999142628 CA276807494	4	G>D		No	ClinGen Ensembl
rs903018087 CA276807493	4	G>S		No	ClinGen Ensembl
CA394337851 rs1466345537	5	G>C		No	ClinGen gnomAD
rs982770088 CA276807683	7	V>D		No	ClinGen TOPMed
TCGA novel	7	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7841946 rs748315822	7	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7841947 rs769881023	8	H>Q		No	ClinGen ExAC gnomAD
CA394337950 rs1240089504	9	C>R		No	ClinGen gnomAD
CA394337972 rs1458095752	10	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	12	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7841948 rs773521452	13	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7841949 rs773521452	13	K>T		No	ClinGen ExAC TOPMed gnomAD
CA394338164 rs1374600436	21	R>*		No	ClinGen gnomAD
CA7841952 rs200973445	21	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200973445 CA276807684	21	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	22	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	22	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001314863 rs2065260644	24	R>K		No	ClinVar dbSNP
rs763656931 CA7841954	24	R>S		No	ClinGen ExAC gnomAD
CA394338259 rs1222543489	25	R>S		No	ClinGen TOPMed gnomAD
rs753420694 CA7841955	27	P>S		No	ClinGen ExAC TOPMed gnomAD
rs371901886 CA7841956	28	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7841957 rs371901886	28	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7841958 rs560665712 COSM969012 COSM969011	28	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs758116753 CA7841959	29	N>D		No	ClinGen ExAC gnomAD
CA394338365 rs1180115137	32	I>V		No	ClinGen gnomAD
rs751434920 CA7841961	34	S>I		No	ClinGen ExAC gnomAD
rs748191075 CA7841964	38	D>A		No	ClinGen ExAC gnomAD
rs769980414 CA7841965	38	D>E		No	ClinGen ExAC gnomAD
TCGA novel	38	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394339092 rs1360745126	40	L>I		No	ClinGen gnomAD
CA7841967 rs749536864	43	I>T		No	ClinGen ExAC gnomAD
TCGA novel	45	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394339263 rs1296250059	47	L>F		No	ClinGen TOPMed
rs771132756 CA7841968	48	S>A		No	ClinGen ExAC gnomAD
rs200223187 CA276807688	49	V>A		No	ClinGen Ensembl
rs760072087 CA7841970	50	E>V		No	ClinGen ExAC gnomAD
CA394339404 rs1406438382	53	L>P		No	ClinGen TOPMed
CA7841971 rs192845060	55	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273802229 CA394339456	56	R>Q		No	ClinGen gnomAD
rs772632798 CA7841989	59	H>Q		No	ClinGen ExAC gnomAD
rs1240584907 CA394339761	59	H>R		No	ClinGen TOPMed
rs1375777862 CA394339778	60	S>Y		No	ClinGen TOPMed
rs776129398 CA7841990	61	Q>H		No	ClinGen ExAC gnomAD
rs1030528649 CA276807904	64	D>E		No	ClinGen TOPMed
rs1359003015 CA394339940	67	D>H		No	ClinGen gnomAD
CA394339966 rs1596914185	68	N>D		No	ClinGen Ensembl
CA394339975 rs1397320224	68	N>K		No	ClinGen TOPMed
CA7841991 rs369245530	69	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA394340003 rs140248806	69	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369245530 CA394339990	69	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA394340028 rs1434594994	70	A>S		No	ClinGen TOPMed gnomAD
CA394340021 rs1434594994	70	A>T		No	ClinGen TOPMed gnomAD
CA394340072 rs1371900565	72	V>A		No	ClinGen gnomAD
rs4589553 CA7841993	74	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762467934 CA7841994	75	C>R		No	ClinGen ExAC gnomAD
CA276807905 rs986789044	79	Q>R		No	ClinGen TOPMed
CA7841995 rs765980912	80	E>K		No	ClinGen ExAC gnomAD
rs1288895759 CA394340315	83	P>L		No	ClinGen gnomAD
rs1378748901 CA394340343	85	P>A		No	ClinGen TOPMed
rs143974143 RCV000983465 CA7841998	86	G>E		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7841999 rs752507974	87	N>K		No	ClinGen ExAC TOPMed gnomAD
CA7842000 rs756107653	88	L>V		No	ClinGen ExAC TOPMed gnomAD
CA276807906 rs796595384	92	E>A		No	ClinGen TOPMed
CA394340473 rs796595384	92	E>G		No	ClinGen TOPMed
rs200485108 CA276807907	93	R>G		No	ClinGen 1000Genomes
CA7842015 rs773933025	94	A>G		No	ClinGen ExAC gnomAD
rs1411990421 CA394342082	95	A>S		No	ClinGen TOPMed
CA7842016 rs759191535	96	E>V		No	ClinGen ExAC gnomAD
CA7842017 rs767259178	101	E>A		No	ClinGen ExAC TOPMed gnomAD
rs760436368 CA394342195	103	A>S		No	ClinGen ExAC gnomAD
CA7842019 rs760436368	103	A>T		No	ClinGen ExAC gnomAD
CA7842020 rs764061587	103	A>V		No	ClinGen ExAC gnomAD
rs753785529 CA7842021	104	V>E		No	ClinGen ExAC gnomAD
CA276808280 rs990719669	106	L>V		No	ClinGen TOPMed gnomAD
rs931365281 CA276808281	107	G>C		No	ClinGen Ensembl
CA394342261 rs1310117441	108	I>V		No	ClinGen gnomAD
rs1293687317 CA394342284	109	A>V		No	ClinGen gnomAD
rs200331327 CA276808282	110	Y>C		No	ClinGen TOPMed
rs887256259 CA276808283	111	L>V		No	ClinGen gnomAD
CA7842024 rs144671828	113	N>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	117	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779751767 CA7842053	118	V>A		No	ClinGen ExAC gnomAD
rs1214815214 CA394342439	118	V>L		No	ClinGen gnomAD
rs1214815214 CA394342437	118	V>M		No	ClinGen gnomAD
CA7842054 rs746644206	119	S>C		No	ClinGen ExAC gnomAD
rs768438236 CA7842055	122	A>V		No	ClinGen ExAC gnomAD
CA7842056 rs552825346	123	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371699142 CA7842057	123	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842059 rs773326682 COSM255915	124	A>T	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394342476 rs1567383900	124	A>V		No	ClinGen Ensembl
rs376056912 CA276808457	125	E>K		No	ClinGen ESP ExAC gnomAD
CA7842060 rs376056912	125	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA394342480 rs1160948294	125	E>V		No	ClinGen gnomAD
rs767884579 CA7842064	130	K>M		No	ClinGen ExAC gnomAD
rs767884579 CA394342512	130	K>R		No	ClinGen ExAC gnomAD
rs951449600 CA394342515	131	A>S		No	ClinGen TOPMed gnomAD
rs951449600 CA276808458	131	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1440949823 CA394342523	132	S>C		No	ClinGen gnomAD
rs138913390 CA7842065	133	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7842066 rs756519948	133	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1238678447 CA394342535	134	F>C		No	ClinGen gnomAD
CA7842067 rs778239846	135	F>L		No	ClinGen ExAC gnomAD
CA394342546 rs1317944579	136	S>G		No	ClinGen gnomAD
rs1244309698 CA394342553	137	L>V		No	ClinGen gnomAD
CA7842069 rs757857382	138	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842072 rs371783851	140	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs141610633 CA7842071	140	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781029092 CA7842073	142	N>S		No	ClinGen ExAC gnomAD
rs202050678 CA7842074	143	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1162467280 CA394342600	145	A>P		No	ClinGen gnomAD
rs749253539 CA7842077	146	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7842078 rs770996337	146	A>V		No	ClinGen ExAC gnomAD
rs1228147561 CA394342624	149	I>L		No	ClinGen TOPMed
rs1456964858 CA394342635	150	W>*		No	ClinGen gnomAD
TCGA novel	150	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268775342 CA394342657	153	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs761023491 CA7842083	153	I>V		No	ClinGen ExAC TOPMed gnomAD
rs764445847 CA7842084	154	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1337151782 CA394342660	154	R>H		No	ClinGen gnomAD
CA276808459 rs748943310	156	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1567383988 CA394342698	160	S>N		No	ClinGen Ensembl
CA7842087 rs148159882	161	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA394342736 rs1423512465	165	K>R		No	ClinGen TOPMed gnomAD
rs1034536725 CA276808460	166	A>T		No	ClinGen TOPMed gnomAD
rs780974312 CA7842090	167	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1391456018 CA394342750	168	V>I		No	ClinGen TOPMed gnomAD
CA7842092 rs557533283	169	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA276808461 rs984381828	170	E>G		No	ClinGen gnomAD
CA394342763 rs1420811384	170	E>K		No	ClinGen gnomAD
CA7842093 rs777735624	171	S>R		No	ClinGen ExAC gnomAD
rs576017988 CA7842095	173	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs908880888 CA276808462	175	E>A		No	ClinGen gnomAD
CA7842096 rs774397102	175	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1194987139 CA394343565	181	T>A		No	ClinGen gnomAD
CA7842115 rs772080724	182	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7842117 rs778360498	183	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7842116 rs778360498	183	K>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	184	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383337965 CA394343637	185	S>A		No	ClinGen gnomAD
rs1402632112 CA394343650	185	S>F		No	ClinGen TOPMed gnomAD
rs768832394 CA7842118	186	I>T		No	ClinGen ExAC gnomAD
rs776957393 CA7842119	188	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA394343821 rs1328014197	191	G>D		No	ClinGen gnomAD
rs1428319625 CA394343828	192	R>K		No	ClinGen TOPMed
CA7842120 CA394343927 rs762067213	197	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
TCGA novel	198	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394344157 rs1248989504	199	D>E		No	ClinGen TOPMed gnomAD
rs1182915298 CA394344225	203	Q>L		No	ClinGen TOPMed gnomAD
TCGA novel	204	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781263300 CA7842138	206	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1167423638 CA394344278	206	A>T		No	ClinGen gnomAD
rs1596918807 CA394344300	207	H>R		No	ClinGen Ensembl
rs1244558210 CA394344312	208	D>Y		No	ClinGen TOPMed gnomAD
CA7842140 rs770009969	210	F>I		No	ClinGen ExAC TOPMed gnomAD
rs1210921055 CA394344357	210	F>L		No	ClinGen TOPMed
rs1292698756 CA394344355	210	F>Y		No	ClinGen TOPMed
rs918239940 CA276808683	211	E>Q		No	ClinGen TOPMed
rs1398470046 CA394344398	213	A>S		No	ClinGen TOPMed gnomAD
CA7842141 rs375714600	215	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410519976 CA394344426	215	H>N		No	ClinGen TOPMed gnomAD
CA7842142 rs763454851	216	Q>E		No	ClinGen ExAC
rs1353370290 CA394344451	216	Q>R		No	ClinGen gnomAD
rs771544471 CA7842143	219	L>P		No	ClinGen ExAC TOPMed gnomAD
rs775057877 CA7842144	222	S>P		No	ClinGen ExAC gnomAD
CA394345117 rs1224532153	224	L>F		No	ClinGen gnomAD
CA394345139 rs1342073344	225	L>F		No	ClinGen TOPMed gnomAD
CA7842146 rs763665994	226	W>C		No	ClinGen ExAC gnomAD
TCGA novel	228	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1376885 rs753372697 CA7842147 COSM1376886	229	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7842148 rs761549429	229	D>V		No	ClinGen ExAC gnomAD
CA394345274 rs753372697	229	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1428153873 CA394345348	231	R>G		No	ClinGen gnomAD
rs764898739 CA7842149	231	R>K		No	ClinGen ExAC gnomAD
CA394345402 rs1374924533	232	T>R		No	ClinGen gnomAD
CA7842150 rs140493876	233	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140493876 CA7842151	233	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7842179 rs757639588	234	V>M		No	ClinGen ExAC TOPMed gnomAD
rs549764947 CA7842180	236	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA394345679 rs1417035088	238	G>R		No	ClinGen gnomAD
rs746336128 CA7842181	239	R>*		No	ClinGen ExAC gnomAD
CA7842182 rs147234069	239	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842185 rs747677407	242	H>Q		No	ClinGen ExAC gnomAD
rs1443719473 CA394345873	243	S>T		No	ClinGen gnomAD
rs1294576891 CA394345915	244	F>C		No	ClinGen gnomAD
rs1373287282 CA394345928	244	F>L		No	ClinGen gnomAD
CA276808709 rs929933986	245	R>*		No	ClinGen TOPMed
CA7842186 rs769252336	245	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	248	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1309624568 CA394346056	249	D>H		No	ClinGen gnomAD
rs1232979399 CA394346106	251	A>T		No	ClinGen gnomAD
CA394346174 rs1337109084	254	G>A		No	ClinGen TOPMed gnomAD
rs762603366 CA7842188	255	C>Y		No	ClinGen ExAC gnomAD
CA394346266 rs1250653160	258	A>S		No	ClinGen gnomAD
rs766126024 CA7842189	258	A>V		No	ClinGen ExAC gnomAD
TCGA novel	259	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596922802 CA394348124	265	A>D		No	ClinGen Ensembl
rs1434448615 CA394348114	265	A>T		No	ClinGen gnomAD
rs192314535 CA276810733	266	C>Y		No	ClinGen 1000Genomes gnomAD
CA394348202 rs1377442054	267	A>T		No	ClinGen gnomAD
CA394348267 rs1178331011	269	A>T		No	ClinGen gnomAD
CA7842216 rs764227871	270	N>K		No	ClinGen ExAC gnomAD
rs1382393764 CA394348305	270	N>S		No	ClinGen TOPMed
TCGA novel	270	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842217 rs753937291	271	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1360015444 CA394348364	272	L>P		No	ClinGen gnomAD
rs1236376660 CA394348432	275	E>D		No	ClinGen TOPMed
rs1439173034 CA394348417	275	E>G		No	ClinGen TOPMed
rs1406022779 CA394348448	276	V>L		No	ClinGen gnomAD
CA394348453 rs1596922834	277	R>G		No	ClinGen Ensembl
rs765542237 CA7842219	277	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1484174471 CA394348476	278	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7842220 rs368071746	279	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs758720929 CA7842221	280	S>T		No	ClinGen ExAC gnomAD
CA7842224 rs201813739 COSM94030	282	I>M	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs139143672 CA7842222	282	I>V		No	ClinGen ESP ExAC gnomAD
CA7842225 rs781701989	283	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1186628996 CA394348665	284	C>S		No	ClinGen TOPMed gnomAD
rs1013622104 CA276810742	287	F>L		No	ClinGen TOPMed
CA7842226 rs143155692	288	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	290	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842227 rs770498667	290	S>F		No	ClinGen ExAC gnomAD
rs778470923 CA7842228	292	A>P		No	ClinGen ExAC gnomAD
TCGA novel	293	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771852887 CA7842231	297	Q>E		No	ClinGen ExAC gnomAD
CA394349193 rs1343681065	300	S>T		No	ClinGen gnomAD
rs760556321 CA7842233	301	V>M		No	ClinGen ExAC TOPMed gnomAD
CA394349260 rs1401935279	302	Q>R		No	ClinGen gnomAD
CA7842234 rs548120156	304	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs927731140 CA276810750	305	L>F		No	ClinGen TOPMed
CA7842235 rs776766249	305	L>P		No	ClinGen ExAC gnomAD
TCGA novel	306	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373734213 CA7842236	306	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773421567 CA7842238	307	D>G		No	ClinGen ExAC gnomAD
rs369725393 CA7842237	307	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1166969662 CA394349410	308	T>P		No	ClinGen TOPMed
rs1208746573 CA394349481	309	M>I		No	ClinGen TOPMed gnomAD
CA394349461 rs1281648913	309	M>L		No	ClinGen TOPMed gnomAD
rs763103851 CA7842239	309	M>T		No	ClinGen ExAC TOPMed gnomAD
CA394349466 rs1281648913	309	M>V		No	ClinGen TOPMed gnomAD
rs761074909 CA7842282	311	Y>H		No	ClinGen ExAC gnomAD
CA394349929 rs1443237838	314	I>L		No	ClinGen TOPMed
CA394349946 rs551656222	314	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394349927 rs1443237838	314	I>V		No	ClinGen TOPMed
rs754435611 CA7842284	315	D>E		No	ClinGen ExAC TOPMed gnomAD
CA276811272 rs532898317	315	D>N		No	ClinGen Ensembl
TCGA novel	316	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201540325 CA7842288	318	V>G		No	ClinGen ExAC gnomAD
rs751203430 CA7842287	318	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7842289 rs781029145	319	E>G		No	ClinGen ExAC gnomAD
rs752529980 CA7842290	320	V>F		No	ClinGen ExAC
rs756007066 CA7842291	320	V>G		No	ClinGen ExAC
rs1388901994 CA394350167	321	A>V		No	ClinGen TOPMed
rs1596924274 CA394350171	322	T>P		No	ClinGen Ensembl
CA7842293 rs749265969	323	M>R		No	ClinGen ExAC
rs770868945 CA7842294	325	D>A		No	ClinGen ExAC
rs745989180 CA7842296	326	F>I		No	ClinGen ExAC gnomAD
rs775745699 CA7842298	326	F>L		No	ClinGen ExAC
rs772260732 CA7842297	326	F>S		No	ClinGen ExAC gnomAD
rs201977657 CA7842299	327	T>K		No	ClinGen ExAC gnomAD
rs1468552314 CA394350299	329	L>R		No	ClinGen TOPMed
rs1251924142 CA394350309	330	C>S		No	ClinGen TOPMed
CA394350340 rs1596924334	332	H>P		No	ClinGen Ensembl
rs1226478564 CA394350359	334	T>P		No	ClinGen TOPMed
CA394350383 rs1270991730	335	V>A		No	ClinGen gnomAD
CA7842305 rs759163200	335	V>M		No	ClinGen ExAC gnomAD
CA7842309 rs777646899	336	E>G		No	ClinGen ExAC gnomAD
CA7842307 rs547393350	336	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA7842308 rs547393350	336	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7842311 rs757188816	340	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7842310 rs139587469	340	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs35214798 CA7842312	341	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM969094 COSM969093 rs772205153 CA7842315	343	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs745932967 CA7842314	343	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7842316 rs371050277	344	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs777081653 CA7842319	345	R>S		No	ClinGen ExAC gnomAD
rs768849807 CA7842318	345	R>T		No	ClinGen ExAC gnomAD
CA7842317 rs747267245	345	R>W		No	ClinGen ExAC
CA7842320 rs748498211	346	L>P		No	ClinGen ExAC gnomAD
CA7842321 rs770399989	348	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7842323 rs759052794	349	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA394351002 rs1346108020	349	R>W		No	ClinGen gnomAD
rs1596924480 CA394351034	350	Y>D		No	ClinGen Ensembl
TCGA novel	350	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842325 rs199750563	351	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760406917 CA7842326	352	L>P		No	ClinGen ExAC gnomAD
CA7842329 rs757060245	358	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394351227 rs1567387691	359	C>Y		No	ClinGen Ensembl
rs765152283 CA7842330	360	M>V		No	ClinGen ExAC gnomAD
rs750364006 CA7842331	365	R>Q		No	ClinGen ExAC gnomAD
COSM969097 CA394351359 rs1362800279 COSM969096	365	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs774245832 CA276812332	367	I>V		No	ClinGen gnomAD
rs756501762 CA7842356	369	K>E		No	ClinGen ExAC gnomAD
CA7842359 rs530420264	373	T>S		No	ClinGen 1000Genomes ExAC gnomAD
rs913172403 CA276812340	374	I>V		No	ClinGen Ensembl
rs949983473 CA276812344	375	R>Q		No	ClinGen gnomAD
CA7842360 rs779348473	375	R>W		No	ClinGen ExAC gnomAD
rs746526519 CA7842361	376	E>Q		No	ClinGen ExAC gnomAD
rs776287774 CA7842364	378	V>I		No	ClinGen ExAC gnomAD
CA7842366 rs769537532	381	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1029984074 CA276812358	385	Y>*		No	ClinGen TOPMed
CA394353196 rs1339985977	388	E>K		No	ClinGen gnomAD
CA394353312 rs954539468	392	R>K		No	ClinGen TOPMed gnomAD
CA394353342 rs1275167646	393	M>T		No	ClinGen gnomAD
rs766324204 CA7842369	394	M>L		No	ClinGen ExAC gnomAD
rs1446387136 CA394353370	394	M>T		No	ClinGen TOPMed
rs766324204 CA7842370	394	M>V		No	ClinGen ExAC gnomAD
rs36008785 CA7842372 RCV000955502	396	E>D		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1014628275 CA276812378	398	V>I		No	ClinGen TOPMed gnomAD
rs754242856 CA7842376	400	A>T		No	ClinGen ExAC TOPMed gnomAD
rs963147426 CA276812386	404	K>R		No	ClinGen TOPMed
TCGA novel	405	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377404629 CA394353723	405	I>M		No	ClinGen TOPMed
rs867216244 CA276812388	405	I>V		No	ClinGen gnomAD
CA394353728 rs1434320762	406	R>*		No	ClinGen gnomAD
rs146438723 CA7842378 RCV000911413	406	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394353972 rs1430754659	407	V>G		No	ClinGen TOPMed
CA7842464 rs748129007	407	V>I		No	ClinGen ExAC gnomAD
CA7842465 rs769712586	409	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM1518626 COSM1518627 rs777880085 CA7842466	410	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA394354028 rs1487009010	411	V>M		No	ClinGen TOPMed
rs1222720872 CA394354068	412	D>E		No	ClinGen TOPMed
TCGA novel	413	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355233826 CA394354102	414	K>E		No	ClinGen TOPMed
CA7842468 rs771130093	415	E>K		No	ClinGen ExAC gnomAD
rs759832040 CA7842470	416	V>G		No	ClinGen ExAC gnomAD
CA7842469 rs774622969	416	V>I		No	ClinGen ExAC gnomAD
rs1282150875 CA394354185	419	T>A		No	ClinGen TOPMed
rs772442115 CA7842471	419	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772442115 CA394354190	419	T>R		No	ClinGen ExAC TOPMed gnomAD
rs764545606 CA7842474	421	V>I		No	ClinGen ExAC gnomAD
rs772753529 CA7842475	422	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1206908477 CA394354236	422	P>S		No	ClinGen gnomAD
CA394354266 rs1398129004	424	E>K		No	ClinGen TOPMed
CA276812600 rs890066819	427	T>I		No	ClinGen gnomAD
TCGA novel	428	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394354372 rs151164394	429	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842478 rs751260563	431	C>Y		No	ClinGen ExAC gnomAD
rs754760067 CA7842479	432	S>N		No	ClinGen ExAC TOPMed gnomAD
rs754760067 CA7842480	432	S>T		No	ClinGen ExAC TOPMed gnomAD
CA276812604 rs544550720	434	L>F		No	ClinGen TOPMed gnomAD
CA7842482 rs756058100	436	E>K		No	ClinGen ExAC TOPMed gnomAD
CA394354527 rs1454827264	437	L>I		No	ClinGen gnomAD
TCGA novel	438	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842486 rs749366538	441	H>L		No	ClinGen ExAC TOPMed gnomAD
CA7842485 rs749366538	441	H>P		No	ClinGen ExAC TOPMed gnomAD
rs1388917607 CA394354614	441	H>Q		No	ClinGen gnomAD
rs779053179 CA7842488	442	T>A		No	ClinGen ExAC TOPMed gnomAD
rs779053179 CA7842487	442	T>P		No	ClinGen ExAC TOPMed gnomAD
rs772287531 CA394354636	443	S>I		No	ClinGen ExAC TOPMed gnomAD
rs772287531 CA7842489	443	S>N		No	ClinGen ExAC TOPMed gnomAD
rs772287531 CA276812620	443	S>T		No	ClinGen ExAC TOPMed gnomAD
CA7842490 rs377121613	445	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs140563930 CA7842492	446	A>T		No	ClinGen ESP ExAC gnomAD
rs1197241031 CA394354683	447	Y>D		No	ClinGen TOPMed
CA394354699 rs762484860	448	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7842494 rs762484860	448	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394354721 rs1285208612	449	P>L		No	ClinGen TOPMed
CA7842496 rs774096632	450	A>S		No	ClinGen ExAC gnomAD
CA394354724 rs774096632	450	A>T		No	ClinGen ExAC gnomAD
rs150447372 CA7842497	451	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394354736 rs150447372	451	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7842498 rs767126159	451	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7842499 rs752524830	452	L>V		No	ClinGen ExAC gnomAD
rs1412126243 CA394354752	453	A>T		No	ClinGen gnomAD
rs1422746399 CA394354764	453	A>V		No	ClinGen gnomAD
CA276812636 rs1019993335	454	A>T		No	ClinGen Ensembl
rs753790591 CA7842502	455	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757281805 CA7842503	455	A>V		No	ClinGen ExAC gnomAD
rs1370180810 CA394354817	458	L>F		No	ClinGen gnomAD
rs778998058 CA394354836	459	L>V		No	ClinGen ExAC TOPMed gnomAD
rs201788118 CA7842506	460	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1338170367 CA394354883	461	R>K		No	ClinGen gnomAD
rs1338170367 CA394354887	461	R>T		No	ClinGen gnomAD
CA7842508 rs537870896	463	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7842509 rs537870896	463	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7842512 rs147242999	464	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7842513 rs201271212	465	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842514 rs201271212	465	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1206792100 CA394354992	466	Q>*		No	ClinGen gnomAD
rs369144402 CA7842515	467	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842551 rs375523895	470	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842552 rs771496661	471	T>I		No	ClinGen ExAC TOPMed gnomAD
rs771496661 CA394355968	471	T>N		No	ClinGen ExAC TOPMed gnomAD
rs771496661 CA276813870	471	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7842553 rs775163061	477	L>F		No	ClinGen ExAC TOPMed gnomAD
rs775163061 CA394356059	477	L>V		No	ClinGen ExAC TOPMed gnomAD
CA7842554 rs760280974	478	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs549283849 CA7842557	479	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs776384962 CA7842556	479	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7842559 rs750328927	483	E>D		No	ClinGen ExAC gnomAD
CA7842558 rs765151794	483	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7842560 rs763031251	484	D>G		No	ClinGen ExAC gnomAD
rs1239041295 CA394356172	484	D>N		No	ClinGen TOPMed
rs763031251 CA394356177	484	D>V		No	ClinGen ExAC gnomAD
rs377612641 CA7842562	487	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7842564 rs781622825	488	C>F		No	ClinGen ExAC TOPMed gnomAD
rs569537585 COSM3711904 CA7842566 COSM3711905	489	V>I	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs974206606 CA394356292	492	L>F		No	ClinGen TOPMed gnomAD
rs974206606 CA276813902	492	L>V		No	ClinGen TOPMed gnomAD
CA7842570 rs749786542	495	K>N		No	ClinGen ExAC gnomAD
rs1596931216 CA394357030	497	F>V		No	ClinGen Ensembl
rs1471808849 CA394357057	499	D>A		No	ClinGen gnomAD
rs1471808849 CA394357059	499	D>G		No	ClinGen gnomAD
CA394357078 rs1428900926	501	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7842599 rs201290179	501	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs769952836 CA276815440	502	P>L		No	ClinGen Ensembl
rs1410023483 CA394357099	503	K>M		No	ClinGen gnomAD
rs1400429107 CA394357102	504	D>N		No	ClinGen Ensembl
CA7842601 rs759632058	506	R>M		No	ClinGen ExAC gnomAD
CA394357121 rs759632058	506	R>T		No	ClinGen ExAC gnomAD
rs767728162 CA7842602	507	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	508	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7842603 rs775818588	508	V>L		No	ClinGen ExAC gnomAD
CA394357149 rs1380375881	511	T>N		No	ClinGen TOPMed
rs1596931268 CA394357146	511	T>P		No	ClinGen Ensembl
CA7842608 rs757704196	512	A>S		No	ClinGen ExAC gnomAD
rs757704196 CA7842607	512	A>T		No	ClinGen ExAC gnomAD
rs369296450 CA7842611	513	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369296450 CA7842610	513	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842612 rs747695958	516	R>Q		No	ClinGen ExAC gnomAD
CA276815478 rs1015379178	518	E>G		No	ClinGen gnomAD
CA394357201 rs1243711271	519	D>E		No	ClinGen gnomAD
COSM1376893 COSM1376894 rs374120930 CA7842613	521	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs775623319 CA7842614	521	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1424139332 CA394357219	522	Y>C		No	ClinGen TOPMed
CA394357216 rs1166506950	522	Y>H		No	ClinGen TOPMed
CA7842615 rs748970301	523	G>E		No	ClinGen ExAC gnomAD
CA7842616 rs770775588	524	E>V		No	ClinGen ExAC gnomAD
rs778667431 CA7842617	528	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA394357287 rs1468754991	530	V>L		No	ClinGen Ensembl
rs372723774 COSM1189144 CA7842645 COSM1189143	531	L>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs369973675 CA7842647	532	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs766866763 CA7842648	533	Y>C		No	ClinGen ExAC gnomAD
rs1324116569 CA394357315	534	S>R		No	ClinGen TOPMed
rs752075387 CA7842649	535	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7842650 rs760054447	535	Q>P		No	ClinGen ExAC gnomAD
CA394357319 rs760054447	535	Q>R		No	ClinGen ExAC gnomAD
CA394357345 rs1389778807	539	A>T		No	ClinGen TOPMed gnomAD
CA394357348 rs1308999043	539	A>V		No	ClinGen gnomAD
rs1431350845 CA394357375	544	Q>E		No	ClinGen TOPMed
rs1222692813 CA394357406	548	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1567390946 CA394357409	548	D>V		No	ClinGen Ensembl
rs749266540 CA276815645	549	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749266540 CA7842658	549	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1178449850 CA394357417	550	P>A		No	ClinGen gnomAD
CA7842660 rs754969037	550	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7842662 rs748224007	551	T>A		No	ClinGen ExAC gnomAD
CA7842663 rs534549622	551	T>N		No	ClinGen ExAC TOPMed gnomAD
CA7842664 rs566884441	552	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7842665 rs749597738	552	F>L		No	ClinGen ExAC gnomAD
rs1268387434 CA394357426	552	F>L		No	ClinGen TOPMed
CA276815665 rs566884441	552	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535449480 CA7842666	553	L>P		No	ClinGen 1000Genomes
rs771307969 CA7842668	554	S>G		No	ClinGen ExAC TOPMed gnomAD
CA394357443 rs1370211710	555	T>A		No	ClinGen TOPMed gnomAD
rs1370211710 CA394357444	555	T>S		No	ClinGen TOPMed gnomAD
CA394357451 rs774802568	556	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7842669 rs774802568	556	G>V		No	ClinGen ExAC TOPMed gnomAD
CA276815680 rs1005247693	558	I>T		No	ClinGen Ensembl
CA276815685 rs555465125	559	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767962309 CA7842671	559	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs764920424 CA7842674	560	A>D		No	ClinGen ExAC TOPMed gnomAD
CA7842673 rs761300716	560	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394357478 rs1176773420	561	F>L		No	ClinGen gnomAD
rs370117441 CA276815689	563	S>G		No	ClinGen ESP TOPMed
rs370117441 CA276815688	563	S>R		No	ClinGen ESP TOPMed
CA394357497 rs1339689161	564	S>T		No	ClinGen gnomAD
CA394357500 rs1206007767	564	S>Y		No	ClinGen gnomAD
CA7842676 rs200908912	565	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs142982582 COSM702893 COSM702894 CA7842677	566	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs925919946 CA276815700	568	R>Q		No	ClinGen TOPMed gnomAD
rs754920554 CA7842680	568	R>W		No	ClinGen ExAC gnomAD
CA7842682 rs756190522	571	K>E		No	ClinGen ExAC gnomAD
rs1567391030 CA394357543	572	R>Q		No	ClinGen Ensembl
CA7842683 rs199743115	572	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs60998614 CA276816900	574	R>G		No	ClinGen gnomAD
CA394358392 rs369730776	574	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842720 rs369730776	574	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA276816899 rs60998614	574	R>W		No	ClinGen gnomAD
TCGA novel	575	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753913259 CA7842721	576	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7842722 rs757336351	577	S>G		No	ClinGen ExAC gnomAD
rs779143179 CA7842723	578	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7842724 rs750636970	578	L>P		No	ClinGen ExAC gnomAD
TCGA novel	578	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA276816910 rs996015464	579	Q>R		No	ClinGen TOPMed
CA394358502 rs1345521736	581	D>G		No	ClinGen gnomAD
CA394358498 rs1304596173	581	D>H		No	ClinGen TOPMed gnomAD
TCGA novel	583	G>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394358530 rs1408721347	583	G>S		No	ClinGen gnomAD
COSM3387326 CA7842727 COSM3387327 rs553608689	586	V>I	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1596933470 CA394358621	588	T>P		No	ClinGen Ensembl
CA276816922 rs1019368451	591	A>T		No	ClinGen TOPMed gnomAD
CA7842730 rs748739816	591	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1490521064 CA394358726	592	E>D		No	ClinGen gnomAD
rs148105729 CA7842732	592	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA276816932 rs1025547205	595	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394358879 rs1177557365	599	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201114363 CA7842736	600	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1428509764 CA394358908	602	G>S		No	ClinGen gnomAD
rs1282355532 CA394358929	603	S>N		No	ClinGen Ensembl
rs118131564 CA7842738 RCV000924026	604	F>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753790420 CA394358955	604	F>L		No	ClinGen ExAC gnomAD
rs765259053 CA7842741	606	D>N		No	ClinGen ExAC TOPMed gnomAD
CA394358976 rs765259053	606	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA394358992 rs1421921758	607	W>*		No	ClinGen TOPMed
rs750552435 CA7842742	607	W>C		No	ClinGen ExAC TOPMed gnomAD
rs758523853 CA7842743	608	S>N		No	ClinGen ExAC gnomAD
CA394359065 rs1360489867	610	D>H		No	ClinGen gnomAD
CA7842744 rs139303228	611	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA394359209 rs1596933613	617	G>C		No	ClinGen Ensembl
rs146026073 CA7842746	618	D>N		No	ClinGen ESP ExAC gnomAD
rs1258235353 CA394359263	619	Q>H		No	ClinGen TOPMed
rs748686645 CA7842749	620	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1264734848 CA394359313	622	E>A		No	ClinGen TOPMed
rs1233772088 CA394359321	622	E>D		No	ClinGen TOPMed
rs745443529 CA7842752	623	G>D		No	ClinGen ExAC gnomAD
rs775130027 CA7842756	626	E>A		No	ClinGen ExAC TOPMed gnomAD
CA7842755 rs775130027	626	E>G		No	ClinGen ExAC TOPMed gnomAD
rs761621306	628	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1398427113 CA394359425	628	D>G		No	ClinGen TOPMed
rs139828844 CA7842758	628	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321312830 CA394360097	629	V>A		No	ClinGen gnomAD
rs541386499 CA7842760	629	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7842780 rs543813373	631	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	632	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	632	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394360137 rs200209194	633	S>R		No	ClinGen ExAC gnomAD
rs563777257 CA7842782	634	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753000700 COSM969122 CA7842785 COSM969123	637	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7842786 rs761107954	638	V>I		No	ClinGen ExAC gnomAD
rs373872375 CA7842788	640	V>M	Variant assessed as Somatic; 5.229e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757868114 CA7842789	641	V>F		No	ClinGen ExAC TOPMed gnomAD
rs757868114 CA394360216	641	V>I		No	ClinGen ExAC TOPMed gnomAD
CA394360245 rs1157232478	643	L>R		No	ClinGen gnomAD
rs1387406238 CA394360273	646	E>Q		No	ClinGen gnomAD
CA394360287 rs1420600435	647	Q>E		No	ClinGen gnomAD
CA276817539 rs987946710	651	Q>*		No	ClinGen Ensembl
CA394360347 rs1406872061	652	E>K		No	ClinGen gnomAD
rs754607732 CA7842792	653	S>A		No	ClinGen ExAC gnomAD
CA7842793 rs201038398	653	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201038398 CA394360366	653	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747829079 CA7842794	654	S>N		No	ClinGen ExAC TOPMed gnomAD
CA7842796 rs769642353	656	E>K		No	ClinGen ExAC gnomAD
rs777521800 CA7842797	657	E>D		No	ClinGen ExAC gnomAD
CA394360419 rs1289185780	658	A>P		No	ClinGen TOPMed gnomAD
CA394360417 rs1289185780	658	A>T		No	ClinGen TOPMed gnomAD
CA276817566 rs917649128	658	A>V		No	ClinGen TOPMed gnomAD
rs1199575804 CA394360446	660	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394360447 rs1360597422	661	E>K		No	ClinGen TOPMed
rs200166258 CA7842798	662	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7842799 rs771041686	663	K>R		No	ClinGen ExAC TOPMed gnomAD
rs145521789 CA7842801	669	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA394360527 rs145521789	669	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA394360539 rs1358532037	670	A>E		No	ClinGen TOPMed gnomAD
rs775797148 CA7842803	671	L>P		No	ClinGen ExAC gnomAD
rs772355945 CA7842802	671	L>V		No	ClinGen ExAC gnomAD
rs1474762658 CA394360543	672	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs369116649 CA7842804	672	A>V		No	ClinGen ESP ExAC gnomAD
rs1218690985 CA394360550	673	L>Q		No	ClinGen TOPMed
CA7842805 rs764553387	674	D>E		No	ClinGen ExAC gnomAD
CA394360563 rs1389545763	675	T>I		No	ClinGen gnomAD
CA7842806 rs754199256	675	T>S		No	ClinGen ExAC gnomAD
CA7842807 rs762281333	676	Q>*		No	ClinGen ExAC gnomAD
rs751060943 CA7842809	677	I>S		No	ClinGen ExAC gnomAD
COSM1247620 CA7842808 COSM1247619 rs765788059	677	I>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394360592 rs780649554	680	T>I		No	ClinGen ExAC gnomAD
CA7842811 rs780649554	680	T>N		No	ClinGen ExAC gnomAD
rs565131831 CA7842810	680	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7842812 rs752414566	681	P>S		No	ClinGen ExAC gnomAD
rs1194513040 CA394360608	683	P>L		No	ClinGen gnomAD
CA7842813 rs755825085	683	P>S		No	ClinGen ExAC
CA394360615 CA394360616 rs1458480460	684	K>N		No	ClinGen gnomAD
CA394360612 rs1253320133	684	K>T		No	ClinGen gnomAD
rs1049059328 CA276817604	685	P>L		No	ClinGen Ensembl
CA276817601 rs914577780	685	P>S		No	ClinGen TOPMed
CA7842815 rs527471283	688	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs770988688 CA7842816	688	R>H		No	ClinGen ExAC gnomAD
CA394360636 rs1165767694	689	T>P		No	ClinGen gnomAD
CA276817618 rs148419125	691	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1580668 rs148419125 CA7842819 RCV000895884 COSM1580667	691	R>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745887382 CA7842818	691	R>W		No	ClinGen ExAC gnomAD
rs1451605526 CA394360660	693	P>T		No	ClinGen gnomAD
rs1334520310 CA394360678	695	K>N		No	ClinGen gnomAD
CA7842821 rs747219952	697	V>I		No	ClinGen ExAC TOPMed gnomAD
rs201460257 CA7842823	698	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394360713 rs1253567667	699	T>S		No	ClinGen gnomAD
CA394360733 rs1398482659	701	G>R		No	ClinGen TOPMed
rs758999973 CA7842827	702	Y>C		No	ClinGen ExAC gnomAD
CA394360774 rs1182628199	704	S>C		No	ClinGen TOPMed gnomAD
COSM212238 CA7842829 COSM1200157 rs142923904	705	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1195633095 CA394360787	706	S>G		No	ClinGen TOPMed
CA394360790 rs1183865923	706	S>N		No	ClinGen TOPMed gnomAD
rs754766175 CA394360809	708	A>P		No	ClinGen ExAC TOPMed gnomAD
rs754766175 CA7842831 COSM335420 COSM335419	708	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA394360822 rs1174197162	709	S>N		No	ClinGen gnomAD
CA276817675 rs1050561691	710	P>H		No	ClinGen gnomAD
CA394360834 rs1050561691	710	P>L		No	ClinGen gnomAD
rs147731099 CA394360846	711	T>I		No	ClinGen ESP ExAC gnomAD
CA394360844 rs147731099	711	T>K		No	ClinGen ESP ExAC gnomAD
CA7842833 rs147731099	711	T>R		No	ClinGen ESP ExAC gnomAD
CA394360850 rs1359486291	712	S>C		No	ClinGen TOPMed gnomAD
rs1359486291 CA394360849	712	S>G		No	ClinGen TOPMed gnomAD
CA276817677 rs555892403	714	V>G		No	ClinGen Ensembl
RCV000954493 CA7842835 rs61755288	714	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394360879 rs1223360562	715	D>N		No	ClinGen gnomAD
CA394360898 rs1211325681	716	G>A		No	ClinGen gnomAD
rs1314261447 CA394360891	716	G>S		No	ClinGen TOPMed gnomAD
rs762016200 CA394360905	717	G>D		No	ClinGen Ensembl
rs762016200 CA276817687	717	G>V		No	ClinGen Ensembl
rs747120382 CA7842838	718	L>F		No	ClinGen ExAC gnomAD
rs768922579 CA7842839	719	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1263920225 CA394360932	720	A>G		No	ClinGen gnomAD
CA276817691 rs1032591534	720	A>P		No	ClinGen Ensembl
CA394360936 rs1596934728	721	L>P		No	ClinGen Ensembl
rs1332310171 CA394360946	722	P>L		No	ClinGen TOPMed
CA394360955 rs1596934736	723	Q>P		No	ClinGen Ensembl
CA394360966 rs1596934743	724	P>S		No	ClinGen Ensembl
rs1439671328 CA394360979	725	T>I		No	ClinGen TOPMed
rs1400695946 CA394360972	725	T>S		No	ClinGen TOPMed gnomAD
rs770169292 CA7842843	726	S>*		No	ClinGen ExAC TOPMed gnomAD
rs112769291 CA7842841	726	S>A		No	ClinGen ExAC gnomAD
rs770169292 CA7842842	726	S>L		No	ClinGen ExAC TOPMed gnomAD
CA276817696 rs112769291	726	S>P		No	ClinGen ExAC gnomAD
rs1454974157 CA394360994	727	V>A		No	ClinGen gnomAD
CA394360989 rs1319123874	727	V>L		No	ClinGen gnomAD
CA7842847 rs760107270	731	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7842848 rs763743574	732	S>G		No	ClinGen ExAC gnomAD
CA276817706 rs1009633042	732	S>N		No	ClinGen gnomAD
CA394361044 rs1009633042	732	S>T		No	ClinGen gnomAD
rs1567392650 CA394361058	733	D>E		No	ClinGen Ensembl
CA7842849 rs753565485	733	D>N		No	ClinGen ExAC gnomAD
CA7842850 rs377102842	734	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	737	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000917001 CA7842852 rs200540209	737	Q>L		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs758338026 CA7842853	738	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394361134 rs1281088340	740	H>L		No	ClinGen TOPMed gnomAD
CA276817735 rs924477796	741	H>R		No	ClinGen TOPMed
rs1490192102 CA394361158	742	Q>*		No	ClinGen gnomAD
CA7842854 rs779926230	743	A>V		No	ClinGen ExAC gnomAD
CA394361213 rs1478350196	747	C>G		No	ClinGen gnomAD
rs755029983 CA7842856	749	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs142532028 CA7842857	751	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140456910 CA7842858	751	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	753	P>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150393278 CA394361270	753	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150393278 CA7842859	753	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394361276 rs1422184708	754	S>N		No	ClinGen gnomAD
CA276817762 rs199502728	755	P>T		No	ClinGen gnomAD
rs370448527 CA7842861	756	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA276817764 rs868599078	756	P>S		No	ClinGen Ensembl
CA394361288 rs1596934882	757	E>K		No	ClinGen Ensembl
CA394361315 rs1447138083	760	V>D		No	ClinGen TOPMed
CA7842864 rs760181877	761	P>L		No	ClinGen ExAC TOPMed gnomAD
rs774732292 CA7842863	761	P>T		No	ClinGen ExAC gnomAD
rs572221317 CA276817779	762	Q>R		No	ClinGen 1000Genomes gnomAD
rs1310230621 CA394361339	764	Q>*		No	ClinGen gnomAD
rs1310230621 CA394361338	764	Q>E		No	ClinGen gnomAD
rs908460285 CA276817783	765	V>M		No	ClinGen TOPMed gnomAD
rs768080881 CA7842865	766	K>R		No	ClinGen ExAC gnomAD
CA7842867 rs374118703	767	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7842866 rs540799362	767	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394361431 rs766285320	773	H>P		No	ClinGen ExAC gnomAD
CA7842871 rs766285320	773	H>R		No	ClinGen ExAC gnomAD
rs1384215507 CA394361439	774	S>G		No	ClinGen gnomAD
CA394361445 rs1453876650	774	S>T		No	ClinGen TOPMed
rs138224180 CA7842873	775	E>K		No	ClinGen ESP ExAC TOPMed
rs755047457 CA7842874	776	E>*		No	ClinGen ExAC gnomAD
CA7842875 rs755047457	776	E>K		No	ClinGen ExAC gnomAD
rs1232637001 CA394361484	777	E>G		No	ClinGen TOPMed
CA394361495 rs1449420429	778	D>N		No	ClinGen gnomAD
rs1332535145 CA394361504	779	M>L		No	ClinGen gnomAD
rs752823768 CA7842878	779	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1332535145 CA394361506	779	M>V		No	ClinGen gnomAD
CA7842880 rs777975543	782	G>D		No	ClinGen ExAC gnomAD
TCGA novel	783	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749608336 CA7842881	785	R>K		No	ClinGen ExAC gnomAD
rs149600932 CA7842882	785	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1199022074 CA394361577	786	L>Q		No	ClinGen gnomAD

1 associated diseases with P41002

[MIM: 619141]: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 (FTDALS5)

A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal dominant form with age-dependent penetrance. Penetrance is estimated to be 50% by age 56 and 100% by age 61. {ECO:0000269|PubMed:27080313, ECO:0000269|PubMed:28852778}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. FTDALS5 is an autosomal dominant form with age-dependent penetrance. Penetrance is estimated to be 50% by age 56 and 100% by age 61. {ECO:0000269|PubMed:27080313, ECO:0000269|PubMed:28852778}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P41002

Type	Name	Position	InterPro Accession
domain	F-box domain	29 - 76	IPR001810
domain	Cyclin, C-terminal domain	408 - 531	IPR004367
domain	Cyclin, N-terminal	289 - 405	IPR006671
domain	Cyclin-like domain	315 - 399	IPR013763-1
domain	Cyclin-like domain	416 - 494	IPR013763-2

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm, perinuclear region Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole	Localization to the centrosome is rare in S phase cells and increases in G2 cells Localizes to both the mother and daughter centrioles Localization to centrosomes is not dependent on CP110 Localizes to the nucleus in G2 phase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
centriole	A cellular organelle, found close to the nucleus in many eukaryotic cells, consisting of a small cylinder with microtubular walls, 300-500 nm long and 150-250 nm in diameter. It contains nine short, parallel, peripheral microtubular fibrils, each fibril consisting of one complete microtubule fused to two incomplete microtubules. Cells usually have two centrioles, lying at right angles to each other. At division, each pair of centrioles generates another pair and the twin pairs form the pole of the mitotic spindle.
centrosome	A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle.
cyclin-dependent protein kinase holoenzyme complex	Cyclin-dependent protein kinases (CDKs) are enzyme complexes that contain a kinase catalytic subunit associated with a regulatory cyclin partner.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
SCF ubiquitin ligase complex	A ubiquitin ligase complex in which a cullin from the Cul1 subfamily and a RING domain protein form the catalytic core; substrate specificity is conferred by a Skp1 adaptor and an F-box protein. SCF complexes are involved in targeting proteins for degradation by the proteasome. The best characterized complexes are those from yeast and mammals (with core subunits named Cdc53/Cul1, Rbx1/Hrt1/Roc1).

2 GO annotations of molecular function

Name	Definition
anaphase-promoting complex binding	Binding to an anaphase-promoting complex. A ubiquitin ligase complex that degrades mitotic cyclins and anaphase inhibitory protein, thereby triggering sister chromatid separation and exit from mitosis.
cyclin-dependent protein serine/threonine kinase regulator activity	Modulates the activity of a cyclin-dependent protein serine/threonine kinase, enzymes of the protein kinase family that are regulated through association with cyclins and other proteins.

9 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
mitotic cell cycle phase transition	The cell cycle process by which a cell commits to entering the next mitotic cell cycle phase.
negative regulation of centrosome duplication	Any process that decreases the frequency, rate or extent of centrosome duplication. Centrosome duplication is the replication of a centrosome, a structure comprised of a pair of centrioles and peri-centriolar material from which a microtubule spindle apparatus is organized.
placenta development	The process whose specific outcome is the progression of the placenta over time, from its formation to the mature structure. The placenta is an organ of metabolic interchange between fetus and mother, partly of embryonic origin and partly of maternal origin.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
re-entry into mitotic cell cycle	The resumption of the mitotic cell division cycle by cells that were in a quiescent or other non-dividing state.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cyclin-dependent protein serine/threonine kinase activity	Any process that modulates the frequency, rate or extent of cyclin-dependent protein serine/threonine kinase activity.
SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, with ubiquitin-protein ligation catalyzed by an SCF (Skp1/Cul1/F-box protein) complex, and mediated by the proteasome.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P20438	CLN2	G1/S-specific cyclin CLN2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P24869	CLB2	G2/mitotic-specific cyclin-2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
O95067	CCNB2	G2/mitotic-specific cyclin-B2	Homo sapiens (Human)	PR
P24864	CCNE1	G1/S-specific cyclin-E1	Homo sapiens (Human)	PR
P30279	CCND2	G1/S-specific cyclin-D2	Homo sapiens (Human)	PR
Q6ZMN8	CCNI2	Cyclin-I2	Homo sapiens (Human)	PR
Q8K4F8	Ccnf	Cyclin-F	Rattus norvegicus (Rat)	PR
Q10PQ9	SDS	Cyclin-SDS-like	Oryza sativa subsp japonica (Rice)	PR
Q10Q62	CYCF3-2	Putative cyclin-F3-2	Oryza sativa subsp japonica (Rice)	PR
Q0JIF2	CYCB1-1	Cyclin-B1-1	Oryza sativa subsp japonica (Rice)	PR
A0MEB5	CYCA3-3	Cyclin-A3-3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FMH5	CYCA3-1	Putative cyclin-A3-1	Arabidopsis thaliana (Mouse-ear cress)	PR
O48790	CYCB1-4	Cyclin-B1-4	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C6A9	CYCA3-2	Cyclin-A3-2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q1PFW3	SDS	Cyclin-SDS	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MGSGGVVHCR	CAKCFCYPTK	RRIRRRPRNL	TILSLPEDVL	FHILKWLSVE	DILAVRAVHS
70	80	90	100	110	120
QLKDLVDNHA	SVWACASFQE	LWPSPGNLKL	FERAAEKGNF	EAAVKLGIAY	LYNEGLSVSD
130	140	150	160	170	180
EARAEVNGLK	ASRFFSLAER	LNVGAAPFIW	LFIRPPWSVS	GSCCKAVVHE	SLRAECQLQR
190	200	210	220	230	240
THKASILHCL	GRVLSLFEDE	EKQQQAHDLF	EEAAHQGCLT	SSYLLWESDR	RTDVSDPGRC
250	260	270	280	290	300
LHSFRKLRDY	AAKGCWEAQL	SLAKACANAN	QLGLEVRASS	EIVCQLFQAS	QAVSKQQVFS
310	320	330	340	350	360
VQKGLNDTMR	YILIDWLVEV	ATMKDFTSLC	LHLTVECVDR	YLRRRLVPRY	RLQLLGIACM
370	380	390	400	410	420
VICTRFISKE	ILTIREAVWL	TDNTYKYEDL	VRMMGEIVSA	LEGKIRVPTV	VDYKEVLLTL
430	440	450	460	470	480
VPVELRTQHL	CSFLCELSLL	HTSLSAYAPA	RLAAAALLLA	RLTHGQTQPW	TTQLWDLTGF
490	500	510	520	530	540
SYEDLIPCVL	SLHKKCFHDD	APKDYRQVSL	TAVKQRFEDK	RYGEISQEEV	LSYSQLCAAL
550	560	570	580	590	600
GVTQDSPDPP	TFLSTGEIHA	FLSSPSGRRT	KRKRENSLQE	DRGSFVTTPT	AELSSQEETL
610	620	630	640	650	660
LGSFLDWSLD	CCSGYEGDQE	SEGEKEGDVT	APSGILDVTV	VYLNPEQHCC	QESSDEEACP
670	680	690	700	710	720
EDKGPQDPQA	LALDTQIPAT	PGPKPLVRTS	REPGKDVTTS	GYSSVSTASP	TSSVDGGLGA
730	740	750	760	770	780
LPQPTSVLSL	DSDSHTQPCH	HQARKSCLQC	RPPSPPESSV	PQQQVKRINL	CIHSEEEDMN

LGLVRL