AiPD: Autoinhibited Protein Database

O95072

Gene name	REC8 (REC8L1)
Protein name	Meiotic recombination protein REC8 homolog
Names	Cohesin Rec8p
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9985
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

247-324 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

247-324 (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 O95072

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95072-F1	Predicted				AlphaFoldDB

429 variants for O95072

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001270224 rs370763234	353	T>P	Premature ovarian failure [ClinVar]	Yes	ClinVar dbSNP
rs772199881 CA7126706	3	Y>*		No	ExAC gnomAD ClinGen
CA612964319 rs1442213754	4	Y>*		No	ClinGen gnomAD
rs775592932 CA257871348	4	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA257871349 rs796165501	5	P>L		No	ClinGen Ensembl
rs1181362356 CA389222373	6	N>S		No	gnomAD ClinGen
CA7126709 rs765239244	9	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA389222543 rs1296813328	13	G>R		No	ClinGen gnomAD
TCGA novel	21	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	22	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1288916733 CA389223108	24	R>L		No	ClinGen TOPMed
rs543783644 CA7126730	24	R>S		No	1000Genomes ExAC gnomAD ClinGen
CA7126733 rs767176568	27	R>G		No	ClinGen ExAC gnomAD
CA389223217 rs1594403006	28	L>V		No	Ensembl ClinGen
rs777199091 CA7126736	29	V>A		No	ExAC gnomAD ClinGen
rs755617539 CA7126735	29	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389223249 rs1315710539	30	K>E		No	ClinGen TOPMed
CA7126737 VAR_051722 RCV000845247 rs34075659	31	R>C		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs34075659 CA7126738	31	R>G		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7126740 rs746216054	33	Y>H		No	ClinGen ExAC gnomAD
CA389223385 rs1349479761	35	R>M		No	ClinGen TOPMed
rs1594403142 CA389223411	36	V>G		No	Ensembl ClinGen
rs1356316627 CA389223400	36	V>M		No	ClinGen gnomAD
rs1291473230 CA389223440	37	N>K		No	gnomAD ClinGen
CA389223466 rs1355755065	38	V>M		No	gnomAD ClinGen
rs1279560192 CA389223506	39	V>G		No	ClinGen gnomAD
CA389223509 rs1318726988	40	K>E		No	gnomAD ClinGen
CA257871391 rs370197598	43	E>K		No	ESP TOPMed gnomAD ClinGen
rs772061360 CA7126769	44	E>Q		No	ClinGen ExAC gnomAD
CA7126771 rs775219506	45	I>M		No	ClinGen ExAC gnomAD
CA257871401 rs1033024541	47	N>D		No	ClinGen gnomAD
CA7126773 rs776318769	47	N>K		No	ClinGen ExAC gnomAD
CA7126772 rs773083264	47	N>S		No	ExAC TOPMed gnomAD ClinGen
rs1276557034 CA389223892	48	Y>N		No	ClinGen TOPMed
rs1594404005 CA389223942	49	V>M		No	Ensembl ClinGen
CA7126774 rs761377685	51	V>I		No	ClinGen ExAC gnomAD
rs1272908792 CA389224043	52	R>*		No	gnomAD ClinGen
CA389224067 rs1343819607	52	R>P		No	ClinGen TOPMed gnomAD
CA389224052 rs1343819607	52	R>Q		No	TOPMed gnomAD ClinGen
rs764580362 CA7126775	53	V>A		No	ClinGen ExAC gnomAD
rs764580362 CA7126776	53	V>E		No	ClinGen ExAC gnomAD
CA7126778 rs200093612	54	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1594404106 CA389224157	54	Q>H		No	ClinGen Ensembl
rs751939300 CA7126779	55	P>L		No	ClinGen ExAC TOPMed gnomAD
CA389224168 rs1398472456	55	P>S		No	TOPMed ClinGen
rs1398472456 CA389224184	55	P>T		No	ClinGen TOPMed
TCGA novel	56	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7126782 rs753034831	57	Q>K		No	ExAC TOPMed gnomAD ClinGen
CA389224327 rs1197168306	58	P>S		No	ClinGen TOPMed gnomAD
CA389224301 rs1197168306	58	P>T		No	ClinGen TOPMed gnomAD
CA389224350 rs1475840583	59	G>C		No	ClinGen TOPMed gnomAD
rs1475840583 CA389224354	59	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7126785 rs749410088	60	L>P		No	ClinGen ExAC gnomAD
rs1326732041 CA389224444	61	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA389224457 rs1388492695	62	R>W		No	gnomAD ClinGen
TCGA novel	64	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257871443 rs940841948	64	R>G		No	TOPMed gnomAD ClinGen
CA389224511 rs746788540	64	R>H		No	ExAC gnomAD ClinGen
CA7126788 rs746788540	64	R>L		No	ExAC gnomAD ClinGen
rs1217464603 CA389224661	68	Y>S		No	ClinGen TOPMed gnomAD
TCGA novel	69	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	69	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA257871451 rs1040617224	69	L>V		No	ClinGen TOPMed gnomAD
CA7126791 rs370925288	71	A>S		No	ESP ExAC gnomAD ClinGen
rs1482875122 CA389224758	72	Q>H		No	ClinGen TOPMed
CA257871463 rs987911856	75	I>M		No	TOPMed gnomAD ClinGen
CA7126792 rs769505314	76	G>S		No	ExAC gnomAD ClinGen
rs1447951411 CA389224944	76	G>V		No	gnomAD ClinGen
rs552447292 CA7126794	78	I>T		No	ClinGen 1000Genomes ExAC
rs766969462 CA7126795	79	R>C		No	ClinGen ExAC gnomAD
CA389224994 rs1205565323	79	R>H		No	ClinGen TOPMed
rs752168235 CA7126796	80	V>I		No	ExAC TOPMed gnomAD ClinGen
CA7126797 rs759974100	81	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389225071 rs1165711168	81	Y>H		No	gnomAD ClinGen
CA389225167 rs1161407072	83	Q>*		No	gnomAD ClinGen
rs1217024269 CA389225223	84	Q>*		No	TOPMed ClinGen
CA389225266 rs1309674469	85	C>Y		No	ClinGen TOPMed
rs1228273497 CA389225350	88	L>F		No	ClinGen TOPMed
CA389225538 rs1317849480	91	D>N		No	TOPMed ClinGen
rs11547058 CA7126816	94	H>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1336840885 CA389225656	94	H>Y		No	ClinGen gnomAD
CA389225717 rs1359650587	95	I>T		No	ClinGen gnomAD
rs761142959 CA7126817	98	R>C		No	ClinGen ExAC gnomAD
CA257871491 rs530107293	98	R>H		No	1000Genomes TOPMed gnomAD ClinGen
CA257871493 rs530107293	98	R>L		No	1000Genomes TOPMed gnomAD ClinGen
rs367867254 CA7126818	99	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1481584284 CA389225895	101	R>G		No	gnomAD ClinGen
CA7126819 rs754149940	101	R>H		No	ExAC gnomAD ClinGen
rs757328194 CA7126820	103	Q>K		No	ExAC gnomAD ClinGen
rs1482430589 CA389226134	107	R>G		No	TOPMed gnomAD ClinGen
rs200268439 CA257871509	107	R>L		No	ClinGen TOPMed gnomAD
CA257871506 rs200268439	107	R>Q		No	TOPMed gnomAD ClinGen
CA389226251 rs117843614	110	M>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7126822 rs117843614	110	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1378185602 CA389226422	113	E>G		No	gnomAD ClinGen
rs1438856912 CA389226491	114	L>V		No	gnomAD ClinGen
rs758426688 CA7126843	121	N>H		No	ClinGen ExAC TOPMed gnomAD
rs377291381 CA7126845	124	A>T		No	ClinGen ESP ExAC gnomAD
CA389227553 rs1386370082	124	A>V		No	ClinGen gnomAD
rs1296564860 CA389227559	125	M>V		No	TOPMed gnomAD ClinGen
CA389227587 rs1320355958	126	M>I		No	gnomAD ClinGen
TCGA novel	126	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755144001 TCGA novel CA7126846	127	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA389227599 rs1216851832	127	E>Q		No	gnomAD ClinGen
rs777681836 CA7126847	130	E>K		No	ExAC TOPMed gnomAD ClinGen
rs1594406068 CA389227693	132	A>V		No	ClinGen Ensembl
rs749068969 CA7126848	133	P>A		No	ExAC gnomAD ClinGen
CA7126849 rs757008950	134	D>V		No	ClinGen ExAC gnomAD
CA389227719 rs1455466952	134	D>Y		No	ClinGen TOPMed
CA389227782 rs1263441890	136	F>S		No	ClinGen gnomAD
TCGA novel	137	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389227854 rs1422327311	139	M>I		No	ClinGen TOPMed gnomAD
CA257871540 rs112093487	140	M>K		No	Ensembl ClinGen
CA257871541 rs1010263606	141	S>T		No	gnomAD ClinGen
CA389227938 rs1167541865	144	P>L		No	ClinGen gnomAD
rs1271530799 CA389227932	144	P>S		No	TOPMed ClinGen
CA389227981 rs1594406252	146	L>H		No	ClinGen Ensembl
CA389228036 CA7126855 rs769025639	148	S>R		No	ExAC gnomAD ClinGen
CA7126856 rs777098122	149	P>L		No	ExAC gnomAD ClinGen
rs767739537 CA7126857	151	D>H		No	ExAC gnomAD ClinGen
CA257871556 rs767739537	151	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs770028121 CA7126858	153	P>S		No	ExAC gnomAD ClinGen
CA7126879 rs771036802	155	I>T		No	ExAC gnomAD ClinGen
CA389229870 rs1438221271	156	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
TCGA novel	156	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7126880 rs774529509	157	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA257874489 rs958533563	158	L>H		No	Ensembl ClinGen
rs759494033 CA7126881	160	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1226857026 CA389230086	162	A>G		No	ClinGen TOPMed
rs549051039 CA7126887	166	R>I		No	ClinGen ExAC TOPMed gnomAD
rs549051039 CA7126886	166	R>K		No	ExAC TOPMed gnomAD ClinGen
rs549051039 CA389230215	166	R>T		No	ClinGen ExAC TOPMed gnomAD
CA7126888 rs758115019	169	E>Q		No	ClinGen ExAC gnomAD
rs1566631225 CA389230342	170	I>F		No	Ensembl ClinGen
CA7126890 rs779537225	171	P>L		No	ExAC gnomAD ClinGen
CA389230373 rs1379108841	171	P>S		No	gnomAD ClinGen
rs1345245080 CA389230495	174	V>G		No	gnomAD ClinGen
CA389230537 rs1275824398	176	T>K		No	ClinGen gnomAD
CA389230553 rs1310454084	177	E>Q		No	ClinGen TOPMed
CA389230561 rs1410916617	177	E>V		No	TOPMed ClinGen
CA257874498 rs755663901	182	E>Q		No	Ensembl ClinGen
CA257874826 rs923946065	183	R>K		No	ClinGen Ensembl
CA7126913 rs111554718	185	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1594417661 CA389231397	186	V>G		No	Ensembl ClinGen
CA7126915 rs535816878	186	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA257874831 rs754139041	190	P>L		No	Ensembl ClinGen
CA389231484 rs1344447380	190	P>S		No	TOPMed gnomAD ClinGen
rs1055724711 CA257874833	191	P>S		No	TOPMed ClinGen
CA389231553 rs1467711515	193	A>T		No	TOPMed ClinGen
CA257874835 rs1051180605	194	I>T		No	ClinGen Ensembl
CA7126916 rs756654549	195	T>M		No	ClinGen ExAC TOPMed gnomAD
rs995522816 CA257874840	197	L>P		No	ClinGen TOPMed
CA7126919 rs757504895	199	A>T		No	ClinGen ExAC gnomAD
rs1359144032 CA389231838	201	P>A		No	ClinGen gnomAD
rs746140010 CA7126921	203	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA7126920 rs779198413	203	R>W		No	ClinGen ExAC TOPMed gnomAD
rs772406435 CA7126922	204	M>I		No	ClinGen ExAC TOPMed gnomAD
rs368404055 CA257874847	207	I>M		No	ESP ClinGen
rs775757453 CA7126923	207	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1307579482 CA389232307	209	G>V		No	ClinGen gnomAD
rs369656552 CA257874912	211	R>W	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA389232352 rs1165778983	212	E>D		No	ClinGen TOPMed
rs770881809 CA7126949	212	E>G		No	ExAC gnomAD ClinGen
CA257874916 rs886107792	216	V>I		No	TOPMed gnomAD ClinGen
CA389232481 rs1482322593	217	S>N		No	gnomAD ClinGen
rs774054681 CA7126950	218	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs759288187 CA7126951	218	R>H		No	ClinGen ExAC gnomAD
rs771733375 CA7126952	219	R>*		No	ClinGen ExAC gnomAD
rs573005801 CA7126953 RCV000894844	219	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1474158669 CA389232603	221	L>M		No	ClinGen TOPMed
rs1418100232 CA389232617	222	D>N		No	gnomAD ClinGen
CA257874924 rs866736378	226	A>E		No	Ensembl ClinGen
CA7126956 rs559059143	226	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA257874932 rs1004531135	230	E>A		No	ClinGen TOPMed
TCGA novel	230	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389232936 rs1594419325	231	A>D		No	Ensembl ClinGen
TCGA novel	231	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389232984 rs1373066646	233	L>S		No	TOPMed gnomAD ClinGen
CA7126990 rs200534101	237	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs1489690547 CA389235145	237	P>S		No	gnomAD ClinGen
rs546893556 CA7126993	238	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA7126992 rs377303811	238	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA257874990 rs879204667	239	L>F		No	ClinGen gnomAD
CA389235219 rs879204667	239	L>I		No	gnomAD ClinGen
rs745871234 CA7126994	241	P>T		No	ClinGen ExAC gnomAD
CA389235335 rs1364125383	242	P>A		No	gnomAD ClinGen
CA7126995 rs374706208	242	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7126997 rs746772445	244	P>H		No	ClinGen ExAC gnomAD
rs768220100 CA7126998	245	A>V		No	ExAC gnomAD ClinGen
rs894059976 CA257874996	246	E>*		No	ClinGen TOPMed
rs1309767267 CA389235773	248	E>D		No	ClinGen gnomAD
CA257875022 rs947839500	248	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA7127019 rs747895432	249	G>E		No	ClinGen ExAC gnomAD
CA7127018 rs780848150	249	G>R		No	ClinGen ExAC gnomAD
rs769311697 CA7127020	250	I>T		No	ExAC gnomAD ClinGen
CA389235964 rs1594420684	253	A>V		No	Ensembl ClinGen
CA7127024 rs367730748	255	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs771587646 CA7127023	255	G>R		No	ClinGen ExAC gnomAD
CA389236098 rs1374859122	257	E>G		No	ClinGen TOPMed
CA389236171 rs1240437897	259	L>R		No	ClinGen gnomAD
rs759822903 CA7127025	261	L>V		No	ClinGen ExAC gnomAD
CA7127027 rs775701847	263	G>D		No	ExAC gnomAD ClinGen
CA389236260 rs1203025761	263	G>R		No	TOPMed gnomAD ClinGen
CA257875030 rs1002563293	265	E>K		No	TOPMed ClinGen
CA389236366 rs1416226072	266	P>A		No	gnomAD ClinGen
CA7127028 rs372680605	266	P>R		No	ClinGen ESP ExAC
rs375931847 CA7127029	267	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1174435902 CA389236377	267	G>R		No	ClinGen gnomAD
rs1474630529 CA389236405	268	A>T		No	TOPMed ClinGen
CA7127031 rs201931905	270	L>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs372143175 CA389236535	271	M>K		No	ClinGen ESP TOPMed gnomAD
rs372143175 CA257875036	271	M>T		No	ESP TOPMed gnomAD ClinGen
CA7127032 rs369722516	271	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566634566 CA389236843	273	V>G		No	ClinGen Ensembl
rs1594421764 CA389236855	274	T>P		No	ClinGen Ensembl
CA389236962 rs1479483500	276	P>A		No	ClinGen TOPMed
rs777574023 CA7127060	276	P>L		No	ExAC TOPMed ClinGen
rs777574023 CA389236971	276	P>Q		No	ClinGen ExAC TOPMed
rs777574023 CA389236986	276	P>R		No	ExAC TOPMed ClinGen
rs766853930	277	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7127062 rs756955413	278	E>K		No	ClinGen ExAC TOPMed
rs371176226 CA7127064	280	R>C		No	ClinGen ESP ExAC gnomAD
CA7127065 rs772661732	280	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA389237301 rs1167055394	284	P>T		No	gnomAD ClinGen
CA389237341 rs1426090398	285	P>S		No	ClinGen gnomAD
rs1332294317 CA389237353	286	S>R		No	ClinGen TOPMed
CA7127069 rs776970026	287	P>L		No	ExAC TOPMed gnomAD ClinGen
CA7127096 rs770985369	290	R>K		No	ExAC gnomAD ClinGen
rs914077012 CA257875166	291	P>H		No	ClinGen TOPMed gnomAD
rs914077012 RCV000766171 CA389237652	291	P>L		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA7127097 rs774474766	291	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7127099 rs764090923	292	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1243650199 CA389237684	293	V>A		No	ClinGen TOPMed gnomAD
rs35425516 VAR_051723 CA7127101	294	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35425516 CA7127102	294	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389237720 rs201938690	295	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA257875172 rs201938690	295	P>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7127103 rs201938690	295	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7127105 rs765859223	296	P>L		No	ClinGen ExAC gnomAD
rs1452414847 CA389237766	298	R>C		No	ClinGen TOPMed gnomAD
CA7127106 rs537121841	298	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs370302536 CA7127107	299	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs548638114 CA7127108	299	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs375520807 CA7127109	300	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368528890 CA7127110	300	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs145684232 CA7127112	301	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs145684232 CA7127111	301	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs771161793 CA7127113	302	R>C		No	ClinGen ExAC gnomAD
CA7127114 rs774612019	302	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA389237798 rs774612019	302	R>L		No	ExAC TOPMed gnomAD ClinGen
CA7127115 rs561000270	303	R>C		No	ExAC gnomAD ClinGen
CA7127116 rs768735719	303	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA257875188 rs768735719	303	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7127118 rs375099298	304	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs375099298 CA7127117	304	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375099298 CA7127119	304	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257875190 rs370698508	304	R>W		No	gnomAD ClinGen
CA389237804 rs1212186778	305	L>V		No	TOPMed ClinGen
CA7127121 rs762555872	311	E>D		No	ClinGen ExAC gnomAD
CA7127120 rs773044687	311	E>G		No	ExAC gnomAD ClinGen
CA389237882 rs1178790127	311	E>Q		No	ClinGen gnomAD
rs751095408 CA7127123	313	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA257875200 rs867449754	315	S>F		No	gnomAD ClinGen
CA7127126 rs199922301	316	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7127128 rs778046197	317	E>D		No	ClinGen ExAC gnomAD
CA389238027 rs1387585115	322	Q>E		No	gnomAD ClinGen
rs1343727654 CA389238066	325	T>P		No	gnomAD ClinGen
CA389238090 rs1241821512	327	A>T		No	ClinGen TOPMed
CA389238106 rs1223058675	328	H>R		No	gnomAD ClinGen
rs1302468495 CA389238117	329	C>R		No	ClinGen TOPMed
CA389238139 rs1308058591	331	E>A		No	gnomAD ClinGen
rs1275240268 CA389238146	332	C>R		No	ClinGen Ensembl
CA7127130 rs368398899	332	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA389238167 rs1594425900	333	P>L		No	ClinGen Ensembl
rs1316930084 CA389238174	334	M>T		No	ClinGen gnomAD
CA257875318 rs866153254	335	V>M		No	Ensembl ClinGen
CA7127162 rs538915000	337	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs200926587 CA7127165	339	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389238215 rs1242027089	340	R>S		No	gnomAD ClinGen
rs1462187061 CA389238229	342	I>M		No	gnomAD ClinGen
CA389238237 rs1241710486	344	G>S		No	ClinGen gnomAD
TCGA novel	345	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410510130 CA389238251	346	A>S		No	gnomAD ClinGen
CA7127167 rs201409905	346	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1387760460 CA389238276	349	F>L		No	ClinGen gnomAD
rs766663838 CA7127170	351	T>I		No	ExAC gnomAD ClinGen
rs766663838 CA7127171	351	T>N		No	ExAC gnomAD ClinGen
TCGA novel	352	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370763234 CA7127172	353	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566636585 CA389238362	356	G>D		No	Ensembl ClinGen
rs758121872 CA389238352	356	G>R		No	ClinGen ExAC TOPMed gnomAD
rs758121872 CA7127197	356	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	358	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746729095 CA7127199	359	P>T		No	ExAC TOPMed ClinGen
rs905054000 CA257875352	360	P>T		No	TOPMed gnomAD ClinGen
CA7127200 rs768168816	361	E>Q		No	ExAC gnomAD ClinGen
CA389238455 rs1158818312	363	L>Q		No	ClinGen TOPMed
CA389238556 rs1178172552	369	C>Y		No	TOPMed ClinGen
rs952183132 CA257875357	370	A>P		No	TOPMed ClinGen
CA7127202 rs747615352	373	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs770440827 CA389238626	374	P>A		No	ClinGen ExAC gnomAD
rs773792400 CA7127204	374	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7127203 rs770440827	374	P>T		No	ExAC gnomAD ClinGen
rs1284738266 CA389238672	377	L>F		No	gnomAD ClinGen
CA7127206 rs749657278	379	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774558496 CA7127207	380	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA389238730 rs1300780855	381	L>P		No	TOPMed gnomAD ClinGen
TCGA novel	383	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759844614 CA7127209	384	E>A		No	ExAC gnomAD ClinGen
rs767596349 CA7127210	385	A>P		No	ExAC gnomAD ClinGen
rs374592961 CA389238814	387	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA7127212 rs374592961	387	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA257875364 rs758445548	388	E>K		No	Ensembl ClinGen
rs1361919790 CA389238848	389	E>K		No	gnomAD ClinGen
CA389238875 rs1594427352	390	E>G		No	ClinGen Ensembl
rs1566636869 CA389238892	391	R>K		No	ClinGen Ensembl
CA7127216 rs758251368	392	R>K		No	ExAC gnomAD ClinGen
rs201586333 CA7127217	394	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA257875369 rs773281134	396	V>I		No	gnomAD ClinGen
CA389239026 rs1243845226	399	E>K		No	ClinGen TOPMed gnomAD
CA7127244 rs779227972	403	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	405	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389239326 rs1198565603	406	A>D		No	TOPMed gnomAD ClinGen
rs1462475654 CA389239312	406	A>T		No	ClinGen TOPMed gnomAD
CA7127246 rs772382519	409	P>R		No	ClinGen ExAC TOPMed
CA389239398 rs1183286252	410	S>N		No	ClinGen gnomAD
CA389239392 rs1183286252	410	S>T		No	gnomAD ClinGen
rs1458638778 CA389239441	411	V>A		No	ClinGen TOPMed
rs17855369 VAR_058128 CA257875403	411	V>F		No	gnomAD ClinGen UniProt dbSNP
rs17855369 CA389239420	411	V>I		No	gnomAD ClinGen
rs1472514826 CA389239500	414	M>T		No	gnomAD ClinGen
rs1177786472 CA389239579	417	L>S		No	ClinGen TOPMed gnomAD
rs1409021522 CA389239583	418	E>K		No	ClinGen gnomAD
rs373995199 CA7127267	419	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
rs1197892483 CA389241525	426	E>K		No	ClinGen TOPMed
rs541776858 CA7127269	427	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs377353947 CA7127270	428	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs748399051 CA7127271	430	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7127272 rs769823637	430	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773319545 CA7127273	432	S>N		No	ExAC gnomAD ClinGen
rs1282580847 CA389241733	436	P>Q		No	TOPMed ClinGen
rs1392656723 CA389241728	436	P>S		No	ClinGen gnomAD
rs759436815 CA7127274	437	E>K		No	ExAC gnomAD ClinGen
CA389241763 rs1292860785	438	E>Q		No	ClinGen gnomAD
CA7127276 rs775450894	439	R>P		No	ClinGen ExAC gnomAD
CA389241786 rs775450894	439	R>Q		No	ExAC gnomAD ClinGen
rs561304496 CA7127275	439	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs889446790 CA257876643	441	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	443	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385465833 CA389241916	444	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1385465833 CA389241917	444	E>Q		No	ClinGen TOPMed
CA389241985 rs1192872940	447	A>V		No	TOPMed gnomAD ClinGen
CA257876648 rs898014436	448	P>L		No	TOPMed gnomAD ClinGen
rs764903037 CA7127300	449	E>K		No	ExAC gnomAD ClinGen
CA389242049 rs1223827757	450	A>V		No	TOPMed ClinGen
CA389242107 rs1470095485	454	P>A		No	ClinGen gnomAD
rs762389628 CA7127302	455	V>M		No	ClinGen ExAC TOPMed gnomAD
CA389242185 rs1308376887	457	P>R		No	TOPMed ClinGen
rs1374872236 CA389242229	460	P>S		No	ClinGen gnomAD
rs1226102052 CA389242244	461	E>K		No	gnomAD ClinGen
CA7127305 rs371804350	462	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257876664 rs371804350	462	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs753070309 CA389242308	463	P>A		No	ClinGen ExAC TOPMed gnomAD
CA389242324 rs1297121919	463	P>R		No	TOPMed ClinGen
rs753070309 CA7127307	463	P>S		No	ExAC TOPMed gnomAD ClinGen
CA389242337 rs1566638268	464	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
TCGA novel	465	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7127308 rs756316686	465	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7127310 rs139641571	466	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389242407 rs1205478724	466	M>L		No	gnomAD ClinGen
rs1482101982 CA389242438	467	P>T		No	ClinGen gnomAD
rs771199294 CA7127311	469	V>M		No	ClinGen ExAC gnomAD
TCGA novel	472	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389242601 rs1422807774	475	E>G		No	ClinGen gnomAD
rs377231807 CA7127313	475	E>K		No	ESP ExAC gnomAD ClinGen
rs377231807 CA7127314	475	E>Q		No	ESP ExAC gnomAD ClinGen
rs980317297 CA257876675	477	L>I		No	ClinGen Ensembl
rs927307846 CA257876677	477	L>P		No	TOPMed gnomAD ClinGen
CA389242709 rs1201760222	479	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA7127316 rs761619102	480	E>K		No	ClinGen ExAC gnomAD
CA7127317 rs369785855	481	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA389242813 rs1346644855	483	H>P		No	gnomAD ClinGen
TCGA novel	486	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292867921 CA389243001	487	A>S		No	ClinGen gnomAD
rs773877656 CA7127338	488	L>V		No	ExAC gnomAD ClinGen
CA389243035 rs1208188713	489	E>D		No	ClinGen TOPMed gnomAD
CA389243074 rs1451000998	492	A>G		No	gnomAD ClinGen
CA389243078 rs1216183412	493	N>H		No	gnomAD ClinGen
CA389243112 rs1219161610	495	E>K		No	ClinGen TOPMed gnomAD
CA257876707 rs922425060	497	D>E		No	ClinGen Ensembl
CA257876705 rs947912168	497	D>H		No	TOPMed gnomAD ClinGen
CA389243145 rs947912168	497	D>N		No	TOPMed gnomAD ClinGen
CA257876710 rs1045000253	499	S>N		No	ClinGen TOPMed gnomAD
CA7127340 rs370759703	502	V>L		No	1000Genomes ExAC gnomAD ClinGen
rs370759703 CA7127341	502	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1430563519 CA389243310	503	S>L		No	TOPMed ClinGen
CA257876713 rs369868779	504	P>S		No	ESP TOPMed gnomAD ClinGen
rs542057973 CA7127343	506	S>G		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	506	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7127344 rs754220168	506	S>N		No	ExAC ClinGen
rs1386906058 CA389243374 CA389243377	506	S>R		No	TOPMed gnomAD ClinGen
CA257876718 rs889456505	507	P>S		No	ClinGen TOPMed
rs889456505 CA389243384	507	P>T		No	ClinGen TOPMed
rs201131372 CA7127345	508	R>C		No	ClinGen ExAC gnomAD
rs765505808 CA7127346	508	R>H		No	ExAC gnomAD ClinGen
rs750544471 CA7127347	512	A>V		No	ExAC gnomAD ClinGen
rs758434563 CA7127348	513	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA389243502 rs1258016918	513	R>W		No	ClinGen gnomAD
rs1594432379 CA389243549	514	V>G		No	Ensembl ClinGen
CA389243562 rs1283700893	515	F>S		No	gnomAD ClinGen
CA389243595 rs1256911774	516	Y>*		No	TOPMed ClinGen
rs148643420 CA389243587	516	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7127349 rs148643420	516	Y>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1376078999 CA389243813	521	L>F		No	TOPMed ClinGen
CA7127377 rs757113882	522	S>L		No	ExAC gnomAD ClinGen
rs377245718 CA7127378	523	A>V		No	ClinGen ESP ExAC gnomAD
CA7127381 rs771590672	525	Q>E		No	ClinGen ExAC gnomAD
rs1393246383 CA389243954	525	Q>R		No	ClinGen TOPMed
rs779642513 CA7127382	527	L>F		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	527	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1034541946 CA257876790	528	H>L		No	ClinGen TOPMed
rs769299580 CA7127384	533	K>N		No	ClinGen ExAC gnomAD
TCGA novel	534	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7127385 rs777211905	537	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368937002 CA7127386	537	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7127387 rs770338744	542	P>A		No	ClinGen ExAC gnomAD
CA7127388 rs773419032	542	P>L		No	ExAC gnomAD ClinGen
CA7127390 rs766464041	546	F>L		No	ExAC gnomAD ClinGen
rs1221769151 CA389244628	548	H>W		No	gnomAD ClinGen

No associated diseases with O95072

3 regional properties for O95072

Type	Name	Position	InterPro Accession
domain	HD/PDEase domain	71 - 228	IPR003607
domain	HD domain	75 - 219	IPR006674
domain	Phosphohydrolase-associated domain	306 - 396	IPR026875

Functions

		Description
EC Number
Subcellular Localization	Nucleus Chromosome Chromosome, centromere	In meiotic chromosomes, localized along axial elements in prophase from the leptotene to diplotene stages At later prophase stages, diakinesis and metaphase I, localized along interstitial axes of chromosomes including both centromere and arm regions No longer detected in arm regions in anaphase I but persists on centromere regions until metaphase II Localized to centromeres and spindle poles in endopolyploid tumor cells
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 GO annotations of cellular component

Name	Definition
cohesin complex	A protein complex that is required for sister chromatid cohesion in eukaryotes. The cohesin complex forms a molecular ring complex, and is composed of structural maintenance of chromosomes (SMC) and kleisin proteins. For example, in yeast, the complex is composed of the SMC proteins Smc1p and Smc3p, and the kleisin protein Scc1p. In vertebrates, the complex is composed of the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer attached via their hinge domains to a kleisin (RAD21, REC8 or RAD21L) which links them, and one STAG protein (STAG1, STAG2 or STAG3).
kinetochore	A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
lateral element	A proteinaceous core found between sister chromatids during meiotic prophase.
male germ cell nucleus	The nucleus of a male germ cell, a reproductive cell in males.
meiotic cohesin complex	A cohesin complex that mediates sister chromatid cohesion during meiosis; has a subunit composition distinct from that of the mitotic cohesin complex.
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.

1 GO annotations of molecular function

Name	Definition
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.

13 GO annotations of biological process

Name	Definition
double-strand break repair	The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix.
double-strand break repair via homologous recombination	The error-free repair of a double-strand break in DNA in which the broken DNA molecule is repaired using homologous sequences. A strand in the broken DNA searches for a homologous region in an intact chromosome to serve as the template for DNA synthesis. The restoration of two intact DNA molecules results in the exchange, reciprocal or nonreciprocal, of genetic material between the intact DNA molecule and the broken DNA molecule.
fertilization	The union of gametes of opposite sexes during the process of sexual reproduction to form a zygote. It involves the fusion of the gametic nuclei (karyogamy) and cytoplasm (plasmogamy).
male meiosis I	A cell cycle process comprising the steps by which a cell progresses through male meiosis I, the first meiotic division in the male germline.
meiotic cell cycle	Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions.
meiotic sister chromatid cohesion	The cell cycle process in which sister chromatids of a replicated chromosome are joined along the entire length of the chromosome during meiosis.
oocyte maturation	A developmental process, independent of morphogenetic (shape) change, that is required for an oocyte to attain its fully functional state. Oocyte maturation commences after reinitiation of meiosis commonly starting with germinal vesicle breakdown, and continues up to the second meiotic arrest prior to fertilization.
reciprocal meiotic recombination	The cell cycle process in which double strand breaks are formed and repaired through a single or double Holliday junction intermediate. This results in the equal exchange of genetic material between non-sister chromatids in a pair of homologous chromosomes. These reciprocal recombinant products ensure the proper segregation of homologous chromosomes during meiosis I and create genetic diversity.
seminiferous tubule development	The reproductive developmental process whose specific outcome is the progression of the seminiferous tubule over time, from its formation to the mature structure. Seminiferous tubules are ducts located in the testicles, and are the specific location of meiosis, and the subsequent creation of gametes, namely spermatozoa.
sister chromatid cohesion	The cell cycle process in which the sister chromatids of a replicated chromosome become tethered to each other.
spermatid development	The process whose specific outcome is the progression of a spermatid over time, from its formation to the mature structure.
spermatogenesis	The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
synaptonemal complex assembly	The cell cycle process in which the synaptonemal complex is formed. This is a structure that holds paired chromosomes together during prophase I of meiosis and that promotes genetic recombination.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8C5S7	Rec8	Meiotic recombination protein REC8 homolog	Mus musculus (Mouse)	PR
Q6AYJ4	Rec8	Meiotic recombination protein REC8 homolog	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MFYYPNVLQR	HTGCFATIWL	AATRGSRLVK	REYLRVNVVK	TCEEILNYVL	VRVQPPQPGL
70	80	90	100	110	120
PRPRFSLYLS	AQLQIGVIRV	YSQQCQYLVE	DIQHILERLH	RAQLQIRIDM	ETELPSLLLP
130	140	150	160	170	180
NHLAMMETLE	DAPDPFFGMM	SVDPRLPSPF	DIPQIRHLLE	AAIPERVEEI	PPEVPTEPRE
190	200	210	220	230	240
PERIPVTVLP	PEAITILEAE	PIRMLEIEGE	RELPEVSRRE	LDLLIAEEEE	AILLEIPRLP
250	260	270	280	290	300
PPAPAEVEGI	GEALGPEELR	LTGWEPGALL	MEVTPPEELR	LPAPPSPERR	PPVPPPPRRR
310	320	330	340	350	360
RRRRLLFWDK	ETQISPEKFQ	EQLQTRAHCW	ECPMVQPPER	TIRGPAELFR	TPTLSGWLPP
370	380	390	400	410	420
ELLGLWTHCA	QPPPKALRRE	LPEEAAAEEE	RRKIEVPSEI	EVPREALEPS	VPLMVSLEIS
430	440	450	460	470	480
LEAAEEEKSR	ISLIPPEERW	AWPEVEAPEA	PALPVVPELP	EVPMEMPLVL	PPELELLSLE
490	500	510	520	530	540
AVHRAVALEL	QANREPDFSS	LVSPLSPRRM	AARVFYLLLV	LSAQQILHVK	QEKPYGRLLI

QPGPRFH