AiPD: Autoinhibited Protein Database

O75312

Gene name	ZPR1 (ZNF259)
Protein name	Zinc finger protein ZPR1
Names	Zinc finger protein 259
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8882
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-68 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-68 (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 O75312

Entry ID	Method	Resolution	Chain	Position	Source
AF-O75312-F1	Predicted				AlphaFoldDB

376 variants for O75312

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6288742 rs368697578 VAR_085794	196	I>T	GKAF; unknown pathological significance; homozygous patient fibroblasts have impaired ability to progress through the cell cycle; decreased protein abundance in patient fibroblasts [UniProt]	Yes	ClinGen ESP ExAC gnomAD UniProt
rs1591311201 CA382731444	2	A>S		No	ClinGen Ensembl
rs1244471409 CA382731402	3	A>T		No	ClinGen gnomAD
rs1197617171 CA382731344	4	S>R		No	ClinGen gnomAD
rs1259964989 CA382731330	5	G>A		No	ClinGen TOPMed gnomAD
CA6288907 rs752427794	5	G>W		No	ClinGen ExAC TOPMed gnomAD
CA382731267 rs1263931879	7	V>A		No	ClinGen gnomAD
CA382731288 rs1317097493	7	V>M		No	ClinGen gnomAD
CA382731207 rs1274317812	9	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA382731205 rs1274317812	9	P>Q		No	ClinGen TOPMed gnomAD
CA382731217 rs1343217278	9	P>S		No	ClinGen gnomAD
CA382731153 rs1456803154	10	G>A		No	ClinGen TOPMed
CA382731156 rs1456803154	10	G>E		No	ClinGen TOPMed
CA6288905 rs754460736	11	P>L		No	ClinGen ExAC TOPMed gnomAD
CA382731117 rs1379718046	11	P>S		No	ClinGen gnomAD
rs1220365186 CA382731072	12	P>Q		No	ClinGen gnomAD
rs1240790621 CA382731036	13	G>A		No	ClinGen TOPMed
CA382731044 rs1407314823 CA382731057	13	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	15	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751069361 CA6288903	15	A>V		No	ClinGen ExAC TOPMed gnomAD
CA382730175 rs1255954256	16	V>A		No	ClinGen TOPMed
TCGA novel	16	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6288901 rs762919155	16	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1184196657 CA382730168	17	A>T		No	ClinGen TOPMed
CA382730103 rs1176719609	17	A>V		No	ClinGen gnomAD
rs201399491 CA6288899	18	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201399491 CA6288900	18	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382730091 rs201399491	18	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1399744265 CA382730067	20	P>S		No	ClinGen TOPMed
CA6288897 rs367894029	21	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382729999 rs1407447656	22	P>L		No	ClinGen TOPMed
rs1224368198 CA382730002	22	P>S		No	ClinGen TOPMed gnomAD
rs1307634213 CA382729944	24	P>S		No	ClinGen gnomAD
CA382729924 rs1384258400	25	P>Q		No	ClinGen gnomAD
rs1326244787 CA382729928	25	P>S		No	ClinGen TOPMed
rs1446336110 CA382729909	26	P>S		No	ClinGen gnomAD
CA382729891 rs1357034341	27	A>T		No	ClinGen gnomAD
rs960609801 CA229335575	27	A>V		No	ClinGen TOPMed
rs1381634811 CA382729846	28	P>H		No	ClinGen TOPMed gnomAD
rs772320792 CA6288896	28	P>S		No	ClinGen ExAC gnomAD
CA382729776 rs988665214	30	H>N		No	ClinGen TOPMed gnomAD
CA382729747 rs1271190381	30	H>Q		No	ClinGen TOPMed
rs988665214 CA229335551	30	H>Y		No	ClinGen TOPMed gnomAD
CA382729685 rs1482170070	33	R>Q		No	ClinGen gnomAD
CA229335543 rs200636923	33	R>W		No	ClinGen gnomAD
CA382729596 rs1216788074	34	P>L		No	ClinGen gnomAD
rs1283956640 CA382729565	35	I>M		No	ClinGen gnomAD
rs1489274052 CA382729581	35	I>N		No	ClinGen gnomAD
rs1359840862 CA382729559	36	S>N		No	ClinGen TOPMed gnomAD
CA382729522 rs1375872064	37	A>S		No	ClinGen TOPMed
CA229335536 rs775245209	37	A>V		No	ClinGen TOPMed gnomAD
CA382729493 rs1360758365	38	E>G		No	ClinGen gnomAD
rs199577752 CA6288894	39	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs200349478 CA229335522	40	E>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs200349478 CA229335526	40	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA229335518 rs966494072	41	E>D		No	ClinGen TOPMed gnomAD
CA382729187 rs1283174880	44	P>L		No	ClinGen gnomAD
CA229335509 rs866539178	46	E>*		No	ClinGen Ensembl
CA229335489 rs868446688 CA382729134	46	E>D		No	ClinGen TOPMed gnomAD
rs1362125510 CA382729127	47	I>V		No	ClinGen gnomAD
rs1488134184 CA382728952	51	C>G		No	ClinGen gnomAD
rs1230054667 CA382728886	52	M>I		No	ClinGen TOPMed
CA6288893 rs201247587	52	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1350360526 CA382728893	52	M>R		No	ClinGen gnomAD
CA382728920 rs201247587	52	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6288892 rs367641390	53	N>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412808098 CA382728851	54	C>R		No	ClinGen gnomAD
rs778384326 CA6288891	55	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA382728758 rs1261351824	56	C>W		No	ClinGen gnomAD
rs748466058 CA6288889	57	N>K		No	ClinGen ExAC gnomAD
CA6288890 rs770285775	57	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1421415053 CA382728610	58	G>D		No	ClinGen gnomAD
CA382728587 rs1565322971	59	M>V		No	ClinGen Ensembl
rs748592380 CA6288870	61	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1565322961 CA382728478	62	L>F		No	ClinGen Ensembl
rs1565322957 CA382728374	65	T>I		No	ClinGen Ensembl
CA6288868 rs768246393	66	K>R		No	ClinGen ExAC gnomAD
rs1456670564 CA382728289	69	F>C		No	ClinGen gnomAD
rs960662058 CA382728166	74	I>L		No	ClinGen TOPMed gnomAD
rs1204774595 CA382728157	74	I>T		No	ClinGen TOPMed gnomAD
CA229335337 rs960662058	74	I>V		No	ClinGen TOPMed gnomAD
rs746700168 CA6288867	77	S>Y		No	ClinGen ExAC gnomAD
CA6288865 rs769951760	78	F>C		No	ClinGen ExAC gnomAD
rs372172078 CA6288864	79	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1374645416 CA382727958	80	C>*		No	ClinGen gnomAD
CA382727974 rs1242217951	80	C>R		No	ClinGen gnomAD
rs1374645416 CA382727956	80	C>W		No	ClinGen gnomAD
rs368042290 CA6288863	81	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757152860 CA6288862	82	H>Q		No	ClinGen ExAC
CA229335315 rs988697934	82	H>R		No	ClinGen Ensembl
rs1396435143 CA382727928	82	H>Y		No	ClinGen gnomAD
CA6288861 rs149283737	83	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA229335301 rs11550894	85	W>G		No	ClinGen Ensembl
CA6288860 rs763971405	86	N>D		No	ClinGen ExAC gnomAD
rs527995411 CA229335292	88	T>A		No	ClinGen TOPMed gnomAD
CA6288859 rs755823312	88	T>M		No	ClinGen ExAC gnomAD
rs1477737398 CA382727766 COSM923362	89	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1380130930 CA382727779	89	E>K		No	ClinGen TOPMed
rs766453854 CA6288857	90	I>M		No	ClinGen ExAC gnomAD
CA6288858 rs560662237	90	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA229335276 rs371421060	96	I>M		No	ClinGen ESP TOPMed gnomAD
rs1591310605 CA382727683	97	Q>P		No	ClinGen Ensembl
rs1565322871 CA382727652	101	V>A		No	ClinGen Ensembl
rs1565322871 CA382727653	101	V>G		No	ClinGen Ensembl
CA382727647 rs138417893	102	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs138417893 CA6288856	102	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6288855 rs773422379	104	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6288854 CA382727627 rs765886389	105	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6288853 rs762390641	107	V>D		No	ClinGen ExAC gnomAD
CA6288848 rs775267702	109	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6288849 rs747273750	109	A>S		No	ClinGen ExAC TOPMed gnomAD
CA382727606 rs775267702	109	A>V		No	ClinGen ExAC TOPMed gnomAD
CA382727597 rs1310766010	111	E>K		No	ClinGen gnomAD
CA382727568 rs1219945603	113	M>T		No	ClinGen TOPMed
rs78683395 CA6288830	113	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374152085 CA6288829	115	R>T		No	ClinGen ESP ExAC gnomAD
CA382727537 rs1250462110	117	V>G		No	ClinGen TOPMed
CA6288825 rs777824616	120	T>A		No	ClinGen ExAC gnomAD
rs777824616 CA6288826	120	T>P		No	ClinGen ExAC gnomAD
CA382727512 rs1591310319	121	D>A		No	ClinGen Ensembl
CA6288824 rs769614797	123	A>T		No	ClinGen ExAC
CA229334943 rs202038648	125	T>A		No	ClinGen 1000Genomes
rs748016520 CA6288823	126	R>K		No	ClinGen ExAC gnomAD
rs750708295 CA6288820	133	E>D		No	ClinGen ExAC gnomAD
TCGA novel	133	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA229334911 rs750008988	134	I>T		No	ClinGen Ensembl
TCGA novel	135	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779214225 CA6288819	136	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	139	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA229334893 rs1014776609	140	K>N		No	ClinGen TOPMed gnomAD
CA6288799 rs777734368	142	A>V		No	ClinGen ExAC gnomAD
rs767952878 CA6288796	149	L>S		No	ClinGen ExAC TOPMed gnomAD
rs572979185 CA6288795	150	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA382727109 rs572979185	150	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1329701792 CA382727100	150	I>T		No	ClinGen gnomAD
rs943839018 CA229334588	151	T>A		No	ClinGen TOPMed gnomAD
CA382727090 rs943839018	151	T>P		No	ClinGen TOPMed gnomAD
rs559441179 CA6288794	152	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6288793 rs766096636	152	R>H		No	ClinGen ExAC gnomAD
rs1565322461 CA382727061	153	A>T		No	ClinGen Ensembl
CA6288791 rs772874052	154	I>L		No	ClinGen ExAC TOPMed gnomAD
CA382727044 rs772874052	154	I>V		No	ClinGen ExAC TOPMed gnomAD
rs150143252 CA229334552	157	L>P		No	ClinGen ESP gnomAD
CA382726966 rs1440208064	158	E>A		No	ClinGen gnomAD
CA382726915 rs1591310076	160	D>A		No	ClinGen Ensembl
rs761343897 CA6288789	160	D>E		No	ClinGen ExAC gnomAD
rs773265443 CA6288787	164	R>*		No	ClinGen ExAC TOPMed gnomAD
CA229334547 rs773265443	164	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6288786 rs746836723	164	R>P		No	ClinGen ExAC gnomAD
rs746836723 CA229334539	164	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382725464 rs1284418258	166	A>G		No	ClinGen gnomAD
CA229334255 rs931075084	168	K>E		No	ClinGen TOPMed
rs1215698667 CA382725406	169	D>G		No	ClinGen gnomAD
rs140812201 CA6288773	170	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292441537 CA382725371	171	T>A		No	ClinGen gnomAD
CA6288772 rs199643336	171	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6288771 rs776281144	172	A>P		No	ClinGen ExAC gnomAD
rs1045189007 CA229334235	173	E>Q		No	ClinGen TOPMed gnomAD
rs764172369 CA6288770	173	E>V		No	ClinGen ExAC gnomAD
rs1286682874 CA382725259	175	I>T		No	ClinGen gnomAD
rs528480455 CA6288769	176	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1591309818 CA382725203	178	F>V		No	ClinGen Ensembl
rs775455702 CA6288768	179	I>V		No	ClinGen ExAC gnomAD
CA6288766 rs745617001	181	K>N		No	ClinGen ExAC gnomAD
rs771766329 CA6288767	181	K>R		No	ClinGen ExAC gnomAD
rs773363659 CA6288765	182	L>P		No	ClinGen ExAC gnomAD
CA6288764 rs769999141	183	K>N		No	ClinGen ExAC gnomAD
CA382725083 rs1186053829	184	E>K		No	ClinGen gnomAD
rs748266680 CA6288763	184	E>V		No	ClinGen ExAC gnomAD
rs1248995826 CA382725019	186	K>R		No	ClinGen gnomAD
rs1565322230 CA382724963	188	V>I		No	ClinGen Ensembl
rs781227489 CA6288762	189	A>V		No	ClinGen ExAC gnomAD
rs1417402108 CA382724922	190	S>F		No	ClinGen TOPMed
CA6288761 rs755003039	190	S>P		No	ClinGen ExAC TOPMed gnomAD
CA229334186 rs559380286	191	P>H		No	ClinGen 1000Genomes
rs1218859794 CA382724890	192	F>L		No	ClinGen gnomAD
rs780545872 CA382724807	194	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780545872 CA6288759	194	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1394535819 CA382724663	198	D>G		No	ClinGen gnomAD
CA382724655 rs1297830883	199	P>T		No	ClinGen gnomAD
rs1466554884 CA382724619	201	G>R		No	ClinGen gnomAD
CA6288741 rs374139882	203	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306919212 CA382724562	204	F>L		No	ClinGen gnomAD
CA229333970 rs898281139	207	N>H		No	ClinGen Ensembl
rs138148308 CA6288740	207	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746708495 CA382724490	209	H>L		No	ClinGen TOPMed gnomAD
CA229333949 rs746708495	209	H>R		No	ClinGen TOPMed gnomAD
rs779353718 CA6288738	210	A>V		No	ClinGen ExAC gnomAD
CA6288736 rs753542960	213	K>E		No	ClinGen ExAC gnomAD
rs1330161932 CA382724410	213	K>R		No	ClinGen TOPMed
rs777506725 CA6288735	216	A>V		No	ClinGen ExAC TOPMed gnomAD
rs145593184 CA6288732	218	V>G		No	ClinGen ESP ExAC gnomAD
rs752246599 CA6288733	218	V>M		No	ClinGen ExAC gnomAD
CA229333918 rs759495658	221	H>L		No	ClinGen ExAC TOPMed gnomAD
rs759495658 CA6288731	221	H>R		No	ClinGen ExAC TOPMed gnomAD
rs751404959 CA6288730	222	Y>C		No	ClinGen ExAC gnomAD
rs777227749 CA382724222	224	R>G		No	ClinGen gnomAD
CA6288729 rs766166710	224	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA229333907 rs777227749	224	R>W		No	ClinGen gnomAD
CA6288727 rs776859358	226	R>*		No	ClinGen ExAC TOPMed gnomAD
CA229333894 rs776859358	226	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6288726 rs181857790	226	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1565321957 CA382723876	236	E>*		No	ClinGen Ensembl
CA6288701 rs140390701	237	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA382723747 rs1271432038	241	E>K		No	ClinGen TOPMed gnomAD
rs374020403 CA229333640	245	E>D		No	ClinGen ESP TOPMed gnomAD
rs773698714 CA6288700	245	E>K		No	ClinGen ExAC gnomAD
CA6288699 rs769995830	250	N>H		No	ClinGen ExAC gnomAD
CA229333476 rs942831907	253	L>F		No	ClinGen TOPMed
rs1234892787 CA382723404	254	Q>*		No	ClinGen TOPMed
CA382723302 rs1280608434	258	N>I		No	ClinGen TOPMed
CA6288677 rs746586209	260	P>S		No	ClinGen ExAC gnomAD
CA382723247 rs1485058800	261	E>G		No	ClinGen TOPMed
CA382723237 rs1326874846	262	C>G		No	ClinGen Ensembl
rs779521598 CA6288676	263	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6288675 rs35120633	264	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6288674 rs35120633 VAR_052999	264	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6288670 rs529843898	266	A>S		No	ClinGen TOPMed
rs529843898 CA6288671	266	A>T		No	ClinGen TOPMed
COSM428457 CA382723100 rs1395138572	267	Q>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6288669 rs757127430	270	M>V		No	ClinGen ExAC gnomAD
rs753548305 CA6288668	274	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6288641 rs762210236	276	P>S		No	ClinGen ExAC gnomAD
CA229333147 rs930074842	280	E>A		No	ClinGen Ensembl
CA382722352 rs1332691781	282	I>V		No	ClinGen gnomAD
rs764441989 CA6288639	283	I>V		No	ClinGen ExAC gnomAD
CA382722226 rs1167383526	285	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1474390198 CA382722174	286	T>A		No	ClinGen gnomAD
CA229333133 rs897243791	287	N>D		No	ClinGen Ensembl
rs760982878 CA6288638	287	N>S		No	ClinGen ExAC gnomAD
rs775176591 CA6288637	288	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	289	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759116459 CA6288635	289	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA382721923 rs1452553823	290	N>K		No	ClinGen TOPMed gnomAD
CA382721897 rs1275513190	291	C>W		No	ClinGen gnomAD
CA229333117 rs1038430999	292	G>E		No	ClinGen Ensembl
CA6288634 rs375539621	293	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375539621 CA382721775	293	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1234729891 CA382721795	293	H>Y		No	ClinGen gnomAD
CA6288632 rs749188709	294	R>Q		No	ClinGen ExAC gnomAD
rs201594268 CA6288633	294	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777726736 CA6288631	297	E>D		No	ClinGen ExAC gnomAD
CA6288616 rs773987714	299	K>I		No	ClinGen ExAC gnomAD
CA6288615 rs765838834	303	A>T		No	ClinGen ExAC gnomAD
CA229330242 rs752842305	304	V>I		No	ClinGen TOPMed gnomAD
rs762475096 CA6288614	305	E>G		No	ClinGen ExAC TOPMed gnomAD
rs773072864 CA6288613	306	P>S		No	ClinGen ExAC gnomAD
CA382719962 rs543437138	307	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1391814566 CA382719947	307	L>W		No	ClinGen TOPMed
rs1305821197 CA382719887	309	T>S		No	ClinGen TOPMed
rs1454119244 CA382719871	310	R>S		No	ClinGen TOPMed gnomAD
rs141562431 CA6288611	313	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA382719775 rs1177421101	314	H>Y		No	ClinGen gnomAD
rs776551748 CA382719731	315	I>M		No	ClinGen ExAC TOPMed
TCGA novel	317	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768510875 CA6288609	319	S>A		No	ClinGen ExAC TOPMed gnomAD
CA6288608 rs779153303	321	M>R		No	ClinGen ExAC gnomAD
rs779153303 CA6288607	321	M>T		No	ClinGen ExAC gnomAD
rs367659104 CA229330210	321	M>V		No	ClinGen ESP
rs757333427 CA6288606	324	D>V		No	ClinGen ExAC gnomAD
CA229330197 rs925789949	327	K>N		No	ClinGen TOPMed
rs749388400 CA229329822	329	E>D		No	ClinGen ExAC gnomAD
CA6288589 rs771184339	329	E>K		No	ClinGen ExAC gnomAD
CA6288587 rs777846086	331	C>S		No	ClinGen ExAC gnomAD
rs1233906194 CA382718908	334	E>V		No	ClinGen gnomAD
CA382718837 rs1357444618	336	P>L		No	ClinGen gnomAD
CA382718857 rs1565321111	336	P>S		No	ClinGen Ensembl
rs201683739 COSM380098 CA229329810	337	E>D	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA382718825 rs1340241597	337	E>G		No	ClinGen TOPMed
CA229329803 rs532286734	343	G>A		No	ClinGen 1000Genomes
CA382718582 rs1386369397	346	V>I		No	ClinGen gnomAD
CA229329775 rs1007881153	347	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA382718488 rs1332222652	348	G>E		No	ClinGen gnomAD
rs779637452 CA6288581	348	G>R		No	ClinGen ExAC gnomAD
rs1361650949 CA382718451	349	G>A		No	ClinGen TOPMed gnomAD
rs1361650949 CA382718449	349	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	350	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750035629 CA6288580	352	T>I		No	ClinGen ExAC TOPMed gnomAD
rs750035629 CA6288579	352	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6288578 rs764841053	353	T>A		No	ClinGen ExAC gnomAD
CA6288577 rs761362576	353	T>I		No	ClinGen ExAC gnomAD
CA6288576 rs753845203	356	G>W		No	ClinGen ExAC TOPMed gnomAD
rs377186813 CA6288574	362	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6288575 rs149166618	362	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA382717724 rs1225844196	366	T>P		No	ClinGen gnomAD
rs373537056 CA229329210	367	K>E		No	ClinGen ESP TOPMed
CA6288554 rs767378820	369	P>A		No	ClinGen ExAC gnomAD
rs773473072 CA6288552	371	T>R		No	ClinGen ExAC gnomAD
TCGA novel	372	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6288551 rs769970984	372	L>V		No	ClinGen ExAC gnomAD
CA382717523 rs1237258872	374	D>N		No	ClinGen gnomAD
rs1169195967 CA382717443	376	S>A		No	ClinGen gnomAD
rs745744393 CA229329171	377	N>S		No	ClinGen Ensembl
TCGA novel	379	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA382717371 rs1204758552	379	G>A		No	ClinGen TOPMed gnomAD
CA382717346 rs747552674	380	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs747552674 CA6288547	380	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs775818109 CA6288546	381	T>M		No	ClinGen ExAC TOPMed gnomAD
CA382717255 TCGA novel rs1251303491	382	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA382717248 rs1359723549	383	R>T		No	ClinGen TOPMed
CA382717222 rs1465333994	384	L>Q		No	ClinGen TOPMed
rs778778790 CA6288543	385	Q>*		No	ClinGen ExAC gnomAD
rs534277616 CA6288542	385	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs534277616 CA6288541	385	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs755541428 CA229329065	386	E>D		No	ClinGen ExAC gnomAD
rs1342011561 CA382717175	386	E>V		No	ClinGen gnomAD
CA6288538 rs11550892	387	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1236863550 CA382717143	387	F>Y		No	ClinGen TOPMed gnomAD
rs1274692754 CA382717125	388	S>R		No	ClinGen gnomAD
rs754809698 CA6288536	389	Q>E		No	ClinGen ExAC gnomAD
CA382717039 rs1330267290	389	Q>H		No	ClinGen gnomAD
CA229329048 rs201502921	389	Q>R		No	ClinGen 1000Genomes
rs1389205998 CA382717024	390	K>T		No	ClinGen gnomAD
CA6288534 rs372452497	391	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6288535 rs751350705	391	M>T		No	ClinGen ExAC gnomAD
CA382716942 rs1436580156	392	D>G		No	ClinGen gnomAD
rs774963547 CA6288508	394	I>L		No	ClinGen ExAC TOPMed gnomAD
CA382716627 rs1366119784	395	I>F		No	ClinGen TOPMed gnomAD
CA6288505 rs772959233	396	E>D		No	ClinGen ExAC gnomAD
rs748309602 CA6288506	396	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201023218 CA229327186	398	N>S		No	ClinGen 1000Genomes
rs973483931 CA229327169	399	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6288502 rs537462913	399	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs973483931 CA382716548	399	M>V		No	ClinGen TOPMed gnomAD
rs1293323200 CA382716444	402	H>L		No	ClinGen TOPMed gnomAD
rs1328092779 CA382716455	402	H>Y		No	ClinGen gnomAD
CA6288499 rs746978511	404	I>T		No	ClinGen ExAC gnomAD
CA6288500 rs768087741	404	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1431477613 CA382716366	405	M>R		No	ClinGen gnomAD
CA6288498 rs779914288	406	D>G		No	ClinGen ExAC gnomAD
rs1305549507 CA382716333	407	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA6288496 rs750151251	409	A>G		No	ClinGen ExAC gnomAD
rs1019102863 CA382716274	409	A>P		No	ClinGen TOPMed gnomAD
CA229327152 rs1019102863	409	A>T		No	ClinGen TOPMed gnomAD
rs1167133313 CA382716221	411	N>I		No	ClinGen TOPMed gnomAD
rs1167133313 CA382716226	411	N>S		No	ClinGen TOPMed gnomAD
CA6288495 rs201631641	415	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs376498246 COSM3666104 CA229326655	418	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
CA6288472 rs757040956	418	Y>H		No	ClinGen ExAC gnomAD
RCV000959081 rs144966144 CA6288471	419	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6288468 rs74773964	421	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6288469 rs755149164	421	E>K		No	ClinGen ExAC TOPMed gnomAD
rs755149164 CA229326636	421	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA6288467 rs766969968	422	D>E		No	ClinGen ExAC gnomAD
CA382714727 rs1367223756	423	D>V		No	ClinGen gnomAD
rs117881415 CA229326616	424	P>S		No	ClinGen 1000Genomes
CA382714685 rs750874473	425	E>D		No	ClinGen ExAC gnomAD
CA229326597 rs190132508	427	K>E		No	ClinGen 1000Genomes
CA6288464 rs765552059	428	V>L		No	ClinGen ExAC gnomAD
CA382714609 rs1265079057	429	E>*		No	ClinGen TOPMed
COSM1240724 CA382714585 rs1435947925	430	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6288461 rs150719892	430	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6288462 rs150719892	430	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs924686713 CA229326579	431	Y>*		No	ClinGen TOPMed
CA382714537 rs1174446533	432	K>R		No	ClinGen gnomAD
CA229326576 rs75323595	433	R>C		No	ClinGen TOPMed gnomAD
rs760242863 CA6288460	433	R>H		No	ClinGen ExAC gnomAD
rs1249074688 CA382714481	435	F>L		No	ClinGen gnomAD
CA6288457 rs745826935	436	D>A		No	ClinGen ExAC
CA6288458 rs771547969	436	D>N		No	ClinGen ExAC gnomAD
rs770684969 CA6288456	437	Q>*		No	ClinGen ExAC gnomAD
CA6288455 rs770684969	437	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	438	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6288454 rs749060892	438	N>I		No	ClinGen ExAC gnomAD
rs1182178141 CA382714357	440	E>Q		No	ClinGen TOPMed
CA6288452 rs755239134	441	L>P		No	ClinGen ExAC gnomAD
CA6288451 rs370093425	444	N>S		No	ClinGen ESP ExAC gnomAD
rs1225750515 CA382714252	445	D>N		No	ClinGen gnomAD
CA382714232 rs1410972966	446	M>V		No	ClinGen TOPMed
CA382714166 rs1348691593	448	T>I		No	ClinGen gnomAD
CA382714163 rs1422633091	449	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6288450 rs141129924	450	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA229326522 rs111364787	451	Y>S		No	ClinGen Ensembl
rs758463265 CA6288447	457	P>L		No	ClinGen ExAC TOPMed gnomAD
rs148642555 CA6288443	459	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6288444 rs757653816	459	R>W		No	ClinGen ExAC TOPMed gnomAD

1 associated diseases with O75312

[MIM: 619321]: Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF)

An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. {ECO:0000269|PubMed:29851065}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by pre- and postnatal growth restriction with microcephaly, distinctive craniofacial features, congenital alopecia, hypoplastic kidneys with renal insufficiency, global developmental delay, severe congenital sensorineural hearing loss, hydrocephalus, genital hypoplasia, and early mortality. {ECO:0000269|PubMed:29851065}. Note=The disease may be caused by variants affecting the gene represented in this entry.

2 regional properties for O75312

Type	Name	Position	InterPro Accession
domain	Zinc finger, ZPR1-type	49 - 237	IPR004457-1
domain	Zinc finger, ZPR1-type	257 - 449	IPR004457-2

Functions

		Description
EC Number
Subcellular Localization	Nucleus Nucleus, nucleolus Nucleus, gem Nucleus, Cajal body Cytoplasm, perinuclear region Cytoplasm Cell projection, axon Cell projection, growth cone	Colocalized with SMN1 in Gemini of coiled bodies (gems), Cajal bodies, axon and growth cones of neurons (By similarity) Localized predominantly in the cytoplasm in serum-starved cells growth arrested in G0 of the mitotic cell cycle Localized both in the nucleus and cytoplasm at the G1 phase of the mitotic cell cycle Accumulates in the subnuclear bodies during progression into the S phase of the mitotic cell cycle Diffusely localized throughout the cell during mitosis Colocalized with NPAT and SMN1 in nuclear bodies including gems (Gemini of coiled bodies) and Cajal bodies in a cell cycle-dependent manner Translocates together with EEF1A1 from the cytoplasm to the nucleolus after treatment with mitogens Colocalized with EGFR in the cytoplasm of quiescent cells Translocates from the cytoplasm to the nucleus in a epidermal growth factor (EGF)-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
axon	The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter.
Cajal body	A class of nuclear body, first seen after silver staining by Ramon y Cajal in 1903, enriched in small nuclear ribonucleoproteins, and certain general RNA polymerase II transcription factors; ultrastructurally, they appear as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter; involved in aspects of snRNP biogenesis; the protein coilin serves as a marker for Cajal bodies. Some argue that Cajal bodies are the sites for preassembly of transcriptosomes, unitary particles involved in transcription and processing of RNA.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
Gemini of coiled bodies	Nuclear bodies frequently found near or associated with Cajal bodies (also called coiled bodies or CBs). Gemini of coiled bodies, or 'gems', are similar in size and shape to CBs, and often indistinguishable under the microscope. Unlike CBs, gems do not contain small nuclear ribonucleoproteins (snRNPs); they contain a protein called survivor of motor neurons (SMN) whose function relates to snRNP biogenesis. Gems are believed to assist CBs in snRNP biogenesis, and to play a role in the etiology of spinal muscular atrophy (SMA).
growth cone	The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
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.
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.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.

3 GO annotations of molecular function

Name	Definition
receptor tyrosine kinase binding	Binding to a receptor that possesses protein tyrosine kinase activity.
translation initiation factor binding	Binding to a translation initiation factor, any polypeptide factor involved in the initiation of ribosome-mediated translation.
zinc ion binding	Binding to a zinc ion (Zn).

22 GO annotations of biological process

Name	Definition
apoptotic process involved in development	Any apoptotic process that is involved in anatomical structure development.
axon development	The progression of an axon over time. Covers axonogenesis (de novo generation of an axon) and axon regeneration (regrowth), as well as processes pertaining to the progression of the axon over time (fasciculation and defasciculation).
Cajal body organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of Cajal bodies, nuclear bodies that appear ultrastructurally as a tangle of coiled, electron-dense threads roughly 0.5 micrometers in diameter and are enriched in ribonucleoproteins, and certain general RNA polymerase II transcription factors.
cell population proliferation	The multiplication or reproduction of cells, resulting in the expansion of a cell population.
cellular response to epidermal growth factor stimulus	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus.
DNA endoreduplication	Regulated re-replication of DNA within a single cell cycle, resulting in an increased cell ploidy. An example of this process occurs in the synthesis of Drosophila salivary gland cell polytene chromosomes.
inner cell mass cell proliferation	The proliferation of cells in the inner cell mass.
microtubule cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins.
mRNA processing	Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide.
negative regulation of motor neuron apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of motor neuron apoptotic process.
positive regulation of cell cycle	Any process that activates or increases the rate or extent of progression through the cell cycle.
positive regulation of gene expression	Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
positive regulation of growth	Any process that activates or increases the rate or extent of growth, the increase in size or mass of all or part of an organism.
positive regulation of protein import into nucleus	Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus.
positive regulation of RNA splicing	Any process that activates or increases the frequency, rate or extent of RNA splicing.
positive regulation of transcription involved in G1/S transition of mitotic cell cycle	Any process that activates or increases transcription as part of the G1/S transition of the mitotic cell cycle.
pre-mRNA catabolic process	The chemical reactions and pathways resulting in the breakdown of the unspliced pre-mRNA (pre-messenger RNA).
regulation of myelination	Any process that modulates the frequency, rate or extent of the formation of a myelin sheath around nerve axons.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
spinal cord development	The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues.
trophectodermal cell proliferation	The proliferation of cells in the trophectoderm.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53303	ZPR1	Zinc finger protein ZPR1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q2TBX0	ZNF259	Zinc finger protein ZPR1	Bos taurus (Bovine)	PR

10	20	30	40	50	60
MAASGAVEPG	PPGAAVAPSP	APAPPPAPDH	LFRPISAEDE	EQQPTEIESL	CMNCYCNGMT
70	80	90	100	110	120
RLLLTKIPFF	REIIVSSFSC	EHCGWNNTEI	QSAGRIQDQG	VRYTLSVRAL	EDMNREVVKT
130	140	150	160	170	180
DSAATRIPEL	DFEIPAFSQK	GALTTVEGLI	TRAISGLEQD	QPARRANKDA	TAERIDEFIV
190	200	210	220	230	240
KLKELKQVAS	PFTLIIDDPS	GNSFVENPHA	PQKDDALVIT	HYNRTRQQEE	MLGLQEEAPA
250	260	270	280	290	300
EKPEEEDLRN	EVLQFSTNCP	ECNAPAQTNM	KLVQIPHFKE	VIIMATNCEN	CGHRTNEVKS
310	320	330	340	350	360
GGAVEPLGTR	ITLHITDASD	MTRDLLKSET	CSVEIPELEF	ELGMAVLGGK	FTTLEGLLKD
370	380	390	400	410	420
IRELVTKNPF	TLGDSSNPGQ	TERLQEFSQK	MDQIIEGNMK	AHFIMDDPAG	NSYLQNVYAP
430	440	450
EDDPEMKVER	YKRTFDQNEE	LGLNDMKTEG	YEAGLAPQR