AiPD: Autoinhibited Protein Database

Q9NYP3

Gene name	DONSON (C21orf60)
Protein name	Protein downstream neighbor of Son
Names	B17
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29980
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-69 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-69 (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 Q9NYP3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NYP3-F1	Predicted				AlphaFoldDB

468 variants for Q9NYP3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA10010677 RCV001856993 RCV000626267 RCV000496974 RCV002470886 RCV000623846 VAR_079330 rs768071555	28	S>R	Microcephaly, short stature, and limb abnormalities Microcephaly-micromelia syndrome Inborn genetic diseases no effect on nuclear localization; complements loss of endogenous DONSON by rescuing the spontaneous fork stalling observed after DONSON depletion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs2086558638 RCV001330760	214	F>L	Microcephaly, short stature, and limb abnormalities [ClinVar]	Yes	ClinVar dbSNP
RCV001310228 CA320121693 RCV001527377 rs1028163227	224	P>S	Meier-Gorlin syndrome [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10010533 RCV000578432 rs777061964	228	W>*	Microcephaly, short stature, and limb abnormalities [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA10010494 RCV001527360 RCV001310229 rs367904759	270	Y>C	Meier-Gorlin syndrome [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_079331	278	C>R	MISSLA [UniProt]	Yes	UniProt
TCGA novel VAR_079332	282	Y>C	Variant assessed as Somatic; impact. MISSLA; loss of nuclear localization [NCI-TCGA, UniProt]	Yes	NCI-TCGA UniProt
CA10010485 RCV000496973 rs779803447 VAR_079333	292	F>L	Microcephaly, short stature, and limb abnormalities MISSLA; loss of nuclear localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
VAR_079334	293	R>del	MISSLA [UniProt]	Yes	UniProt
RCV002546747 CA10010475 RCV001335839 rs146301000	307	I>V	Microcephaly, short stature, and limb abnormalities [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000496969 rs1135401961	417	N>missing	Microcephaly, short stature, and limb abnormalities [ClinVar]	Yes	ClinVar dbSNP
VAR_079335	417	N>del	MISSLA; reduced nuclear localization [UniProt]	Yes	UniProt
RCV000624778 RCV002226718 RCV002532841 rs765112107	419	K>*	Microcephaly, short stature, and limb abnormalities Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
VAR_079336	419	K>del	MISSLA [UniProt]	Yes	UniProt
RCV001839008 rs993687029 RCV002524063 CA320118898 RCV000496972	428	Q>*	Microcephaly, short stature, and limb abnormalities Microcephaly-micromelia syndrome Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_079337	428	Q>del	MISSLA [UniProt]	Yes	UniProt
VAR_079338	433	P>S	MISSLA [UniProt]	Yes	UniProt
rs1135401959 CA410133136 RCV000496967 VAR_079339	446	M>T	Microcephaly, short stature, and limb abnormalities MISSLA; reduced protein level; reduced nuclear localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_079340 CA10010308 RCV000623226 RCV000578322 RCV000496974 rs146664036 RCV001263376 RCV000880181 RCV000660883 RCV001420293	489	K>T	Intellectual disability Microcephaly, short stature, and limb abnormalities Microcephaly-micromelia syndrome Inborn genetic diseases MISSLA; unknown pathological significance; reduced protein level; no effect on nuclear localization; does not complement loss of endogenous DONSON when tested for the rescue of the spontaneous fork stalling observed after DONSON depletion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_079341 rs374688527 CA10010301	504	E>K	MISSLA [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_079342	543	Q>QK	MISSLA; reduced nuclear localization [UniProt]	Yes	UniProt
VAR_079343	563	N>del	MISSLA; unknown pathological significance [UniProt]	Yes	UniProt
CA410146122 rs1446661011	2	A>S		No	ClinGen TOPMed
CA320125095 rs968089348	3	L>F		No	ClinGen TOPMed gnomAD
CA410146079 rs1470564008	4	S>W		No	ClinGen TOPMed
rs1021454698 CA320125094	5	V>E		No	ClinGen TOPMed
rs1454189404 CA410145896	10	P>S		No	ClinGen TOPMed
CA410145885 rs1334611372	11	G>S		No	ClinGen TOPMed
rs1239176662 CA410145873	12	F>L		No	ClinGen TOPMed
CA320125070 rs974873694	14	K>R		No	ClinGen Ensembl
rs1280828026 CA410145805	15	P>L		No	ClinGen TOPMed
TCGA novel	16	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs964516394 CA410145794	17	E>*		No	ClinGen TOPMed gnomAD
rs867683188 CA320125058	17	E>D		No	ClinGen Ensembl
rs964516394 CA320125064	17	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA320125044 rs1031604453	18	V>I		No	ClinGen TOPMed
rs1277027944 CA410145750	19	V>L		No	ClinGen TOPMed gnomAD
rs1462944182 CA410145742	20	R>Q		No	ClinGen TOPMed
CA410145743 rs1427574206	20	R>W		No	ClinGen gnomAD
rs11553354 CA320125040	23	R>Q		No	ClinGen Ensembl
CA10010678 rs753040226	24	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1202690599 CA410145667	25	R>K		No	ClinGen TOPMed gnomAD
rs1202690599 CA410145663	25	R>T		No	ClinGen TOPMed gnomAD
rs1003172836 CA320125031	26	A>S		No	ClinGen TOPMed
CA410145595 rs1273970185	28	S>I		No	ClinGen TOPMed gnomAD
rs1011061844 CA320125026	29	R>C		No	ClinGen TOPMed gnomAD
rs1480721206 CA410145555	29	R>H		No	ClinGen gnomAD
CA320125007 rs1031175520	32	A>G		No	ClinGen TOPMed gnomAD
CA320125020 rs1031175520	32	A>V		No	ClinGen TOPMed gnomAD
CA320124995 rs999742539	33	A>T		No	ClinGen Ensembl
CA320124983 rs906499854	33	A>V		No	ClinGen Ensembl
rs1330298466 CA410145444	35	P>R		No	ClinGen TOPMed
CA410145412 rs1339641254	37	R>H		No	ClinGen TOPMed gnomAD
CA410145405 rs1284506242	38	E>K		No	ClinGen TOPMed
CA410145339 rs1332006642	40	T>M		No	ClinGen TOPMed gnomAD
rs1601320290 CA410145292	42	P>Q		No	ClinGen Ensembl
CA320124965 rs895261517	43	A>E		No	ClinGen Ensembl
rs1197845139 CA410145250	45	R>C		No	ClinGen TOPMed
rs1197845139 CA410145252	45	R>S		No	ClinGen TOPMed
rs1376030090 CA410145245	46	R>*		No	ClinGen gnomAD
CA410145234 rs1167367249	46	R>P		No	ClinGen gnomAD
CA10010674 rs764817198	47	A>P		No	ClinGen ExAC gnomAD
rs929463171 CA320124949	49	L>V		No	ClinGen TOPMed gnomAD
rs1490211509 CA410145082	54	P>S		No	ClinGen TOPMed
rs761178168 CA10010673	57	P>L		No	ClinGen ExAC gnomAD
rs1168128657 CA410144921	59	P>R		No	ClinGen TOPMed gnomAD
CA410144927 rs1269558792	59	P>S		No	ClinGen TOPMed
rs1309167225 CA410144913	60	A>P		No	ClinGen TOPMed gnomAD
rs1309167225 CA410144915	60	A>T		No	ClinGen TOPMed gnomAD
CA410144874 rs1462178226	62	G>R		No	ClinGen TOPMed
CA410144853 rs1224398932	63	G>C		No	ClinGen gnomAD
CA410144850 rs1372782276	63	G>D		No	ClinGen gnomAD
CA410144822 rs1363107671	64	R>S		No	ClinGen TOPMed
CA410144796 rs1277970349	66	G>C		No	ClinGen gnomAD
CA410144801 rs1277970349	66	G>S		No	ClinGen gnomAD
rs1601320207 CA410144766	68	S>G		No	ClinGen Ensembl
CA410144724 rs1295298789	70	G>S		No	ClinGen TOPMed
CA410144693 rs1229814550	71	G>D		No	ClinGen TOPMed
rs1348061687 CA410144667	72	P>L		No	ClinGen gnomAD
CA410144640 rs1161274284	75	A>S		No	ClinGen TOPMed gnomAD
CA320124916 rs1055767568	78	N>D		No	ClinGen Ensembl
CA410144591 rs942241647	78	N>I		No	ClinGen TOPMed gnomAD
rs942241647 CA320124901	78	N>T		No	ClinGen TOPMed gnomAD
CA320124887 rs909365510	80	F>L		No	ClinGen Ensembl
CA410144561 rs1344405993	80	F>Y		No	ClinGen TOPMed gnomAD
CA410144525 rs1260700278	81	A>D		No	ClinGen TOPMed
CA410144537 rs1184781431	81	A>T		No	ClinGen TOPMed
rs1190060915 CA410144517	82	R>C		No	ClinGen TOPMed
rs1481231434 CA410144513	82	R>L		No	ClinGen gnomAD
CA320124876 rs1037532018	83	L>V		No	ClinGen Ensembl
CA10010671 rs768390658	85	N>S		No	ClinGen ExAC TOPMed gnomAD
CA10010670 rs746846902	87	P>L		No	ClinGen ExAC gnomAD
rs745835656 CA10010667	90	A>S		No	ClinGen ExAC gnomAD
rs778669761 CA10010666	93	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10010664 rs778020919	94	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778020919 CA10010663	94	P>R		No	ClinGen ExAC gnomAD
CA10010661 rs753128062	95	D>E		No	ClinGen ExAC TOPMed gnomAD
CA410144123 rs1313429232	97	P>S		No	ClinGen TOPMed
CA410144079 rs1344053897	98	A>D		No	ClinGen gnomAD
rs755238849 CA10010659	99	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10010658 rs766754894	99	R>H		No	ClinGen ExAC gnomAD
rs766754894 CA10010657	99	R>L		No	ClinGen ExAC gnomAD
rs1429543221 CA410143975	101	Q>K		No	ClinGen gnomAD
rs1198329402 CA410143941	102	P>S		No	ClinGen gnomAD
CA410143883 rs1354563775	103	E>G		No	ClinGen TOPMed gnomAD
CA410143835 rs186663238	105	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10010656 rs186663238	105	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410143834 rs1264353624	106	V>I		No	ClinGen gnomAD
CA320124758 rs964807248	107	P>A		No	ClinGen Ensembl
rs868557164 CA320124746	107	P>Q		No	ClinGen TOPMed gnomAD
CA320124741 rs868557164	107	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	109	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410143495 rs1411222319	110	D>G		No	ClinGen gnomAD
rs77196675 CA410143525	110	D>N		No	ClinGen gnomAD
CA320124109 rs77196675	110	D>Y		No	ClinGen gnomAD
rs1198907272 CA410143463	111	S>A		No	ClinGen gnomAD
rs576191032 CA10010641	111	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA10010640 rs554735388	112	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1227875248 CA410143382	113	Q>E		No	ClinGen gnomAD
rs536366573 CA10010638	116	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536366573 CA320124071	116	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410143273 rs1382819147	117	L>S		No	ClinGen gnomAD
rs1393861776 CA410143259	118	L>V		No	ClinGen gnomAD
CA10010635 rs369219330	119	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752431917 CA10010634	120	E>K		No	ClinGen ExAC gnomAD
TCGA novel	121	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410143066 rs1307739992	124	P>L		No	ClinGen Ensembl
CA410143001 rs759428180	127	T>K		No	ClinGen ExAC TOPMed gnomAD
rs759428180 CA10010631	127	T>R		No	ClinGen ExAC TOPMed gnomAD
CA10010630 rs774005539	128	T>A		No	ClinGen ExAC gnomAD
CA10010628 rs766408231	130	T>I		No	ClinGen ExAC
CA410142853 rs1250999118	133	P>L		No	ClinGen TOPMed
rs1225452891 CA410142879	133	P>T		No	ClinGen TOPMed
rs1284868626 CA410142022	137	H>R		No	ClinGen gnomAD
rs1348256262 CA410142025	137	H>Y		No	ClinGen gnomAD
rs776559036 CA10010602	138	V>G		No	ClinGen ExAC gnomAD
CA10010601 rs371685464	140	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368596012 CA10010598	142	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA410141938 rs1228271210	142	E>K		No	ClinGen TOPMed
CA410141891 rs1029166032	145	I>F		No	ClinGen gnomAD
rs746207457 CA10010597	145	I>S		No	ClinGen ExAC TOPMed gnomAD
CA410141884 rs746207457	145	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1029166032 CA320122824	145	I>V		No	ClinGen gnomAD
rs780645262 CA320122803	146	P>A		No	ClinGen TOPMed gnomAD
rs779615686 CA10010596	146	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747762582 CA10010595	147	S>C		No	ClinGen ExAC TOPMed gnomAD
rs747762582 CA10010594	147	S>F		No	ClinGen ExAC TOPMed gnomAD
rs139553109 CA10010593	148	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461694981 CA410141833	149	K>E		No	ClinGen TOPMed gnomAD
CA10010592 rs754454018	150	S>T		No	ClinGen ExAC gnomAD
CA10010590 rs374188850	151	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	155	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223804778 CA410141786	156	D>H		No	ClinGen gnomAD
CA10010587 rs377360381	158	S>N		No	ClinGen ESP ExAC gnomAD
CA320122763 rs1041741921	161	T>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs753740715 CA10010585 COSM1413906	162	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA410141722 rs1157457025	162	R>Q		No	ClinGen TOPMed gnomAD
rs1327548322 CA410141689	164	L>V		No	ClinGen TOPMed
CA320122748 rs1010722195	165	F>S		No	ClinGen TOPMed gnomAD
rs1057365152 CA320122731	168	S>A		No	ClinGen Ensembl
rs764091077 CA10010584	169	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA410141561 rs1469502289	170	P>H		No	ClinGen TOPMed gnomAD
rs760755463 CA10010583	170	P>S		No	ClinGen ExAC gnomAD
CA10010582 rs756689989	173	W>C		No	ClinGen ExAC gnomAD
TCGA novel	173	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170610120 CA410141453	174	A>V		No	ClinGen gnomAD
rs1569077151 CA410141360	178	K>E		No	ClinGen Ensembl
CA410141341 rs1476305042	179	A>T		No	ClinGen gnomAD
CA410141314 rs1190630933	180	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	183	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147415181 CA10010580	183	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA410141188 rs1289592354	185	G>C		No	ClinGen TOPMed
CA410141133 rs1569077132	188	Q>E		No	ClinGen Ensembl
CA10010579 rs774855346	188	Q>R		No	ClinGen ExAC gnomAD
CA410141089 rs1441487879	190	C>Y		No	ClinGen gnomAD
CA410140969 rs1335974496	196	T>S		No	ClinGen TOPMed
CA10010578 rs771356652	197	L>W		No	ClinGen ExAC gnomAD
CA410140924 rs1340581406	199	K>E		No	ClinGen gnomAD
rs778294070 CA10010577	200	S>I		No	ClinGen ExAC TOPMed gnomAD
rs778294070 CA10010576	200	S>N		No	ClinGen ExAC TOPMed gnomAD
CA410139950 rs1443235742	203	D>N		No	ClinGen gnomAD
rs771500243 CA10010550	203	D>V		No	ClinGen ExAC gnomAD
CA410139923 rs1307189913	204	P>T		No	ClinGen TOPMed gnomAD
rs1279459162 CA410139910	205	K>Q		No	ClinGen TOPMed
CA410139900 rs1367351030	205	K>R		No	ClinGen TOPMed gnomAD
rs1165474520 CA410139882	206	L>I		No	ClinGen gnomAD
rs201198208 CA10010547	207	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201198208 CA10010548	207	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10010545 rs753648904	208	S>F		No	ClinGen ExAC gnomAD
COSM3841820 rs774052186 CA320121781	211	R>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA320121780 rs1042218992	211	R>H		No	ClinGen TOPMed
CA10010542 rs752617848	213	T>A		No	ClinGen ExAC gnomAD
CA10010541 rs767719921	213	T>I		No	ClinGen ExAC gnomAD
CA410139711 rs752617848	213	T>P		No	ClinGen ExAC gnomAD
rs1008517432 CA320121757	215	Q>R		No	ClinGen Ensembl
rs1293103505 CA410139579	217	S>G		No	ClinGen gnomAD
CA10010539 rs751861655 CA10010540	217	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10010537 rs763275262	219	I>T		No	ClinGen ExAC TOPMed gnomAD
rs766593943 CA10010538	219	I>V		No	ClinGen ExAC gnomAD
CA320121720 rs369292224	220	Y>C		No	ClinGen ESP TOPMed gnomAD
rs1468092437 CA410139524	221	W>R		No	ClinGen TOPMed
CA410139495 rs1350119899	221	W>S		No	ClinGen gnomAD
CA10010536 rs376799218	222	L>F		No	ClinGen ExAC TOPMed gnomAD
rs376799218 CA10010535	222	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1407757361 CA410139432	223	H>L		No	ClinGen gnomAD
rs1407757361 CA410139435	223	H>P		No	ClinGen gnomAD
rs1396283939 CA410139426	223	H>Q		No	ClinGen TOPMed
rs1407757361 CA410139433	223	H>R		No	ClinGen gnomAD
CA10010534 rs528831946	226	L>F		No	ClinGen 1000Genomes ExAC
TCGA novel	227	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202191803 CA410139114	234	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA10010532 rs202191803	234	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA410139111 rs1435700392	234	R>H		No	ClinGen TOPMed gnomAD
CA10010530 rs774028803	237	A>D		No	ClinGen ExAC TOPMed gnomAD
rs201817852 CA10010529	239	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs749108299 CA10010528	243	G>E		No	ClinGen ExAC gnomAD
rs1235392064 CA410138765	244	K>Q		No	ClinGen TOPMed
CA10010526 rs755808876	245	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748118576 CA10010525	248	W>*		No	ClinGen ExAC gnomAD
rs781238176 CA10010524	249	S>L		No	ClinGen ExAC gnomAD
rs61746119 CA10010522	251	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10010523 rs755151062	251	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1328654524 CA410138588	253	T>S		No	ClinGen TOPMed gnomAD
CA10010519 rs750543203	256	H>R		No	ClinGen ExAC TOPMed gnomAD
CA410138489 rs762810588 CA320121616	259	M>I		No	ClinGen gnomAD
CA10010518 rs765644151	259	M>R		No	ClinGen ExAC gnomAD
rs778957930 CA10010498	263	S>F		No	ClinGen ExAC TOPMed gnomAD
rs200709205 CA10010497	264	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10010496 rs372698314	266	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178101440 CA410138108	267	T>P		No	ClinGen TOPMed
rs575872308 CA10010495	268	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020547877 CA320120907	269	L>V		No	ClinGen TOPMed
rs367904759 CA410138061	270	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA10010492 rs765936971	275	T>S		No	ClinGen ExAC gnomAD
TCGA novel	276	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10010490 rs147115711	279	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410137914 rs1388329916	279	P>S		No	ClinGen gnomAD
rs1424530479 CA410137893	280	Y>C		No	ClinGen TOPMed gnomAD
CA320120877 rs981813053	283	V>I		No	ClinGen TOPMed gnomAD
CA410137784 rs1307981562	285	T>A		No	ClinGen TOPMed
rs141780331 CA10010489	285	T>N		No	ClinGen ESP ExAC TOPMed
rs1301920879 COSM250918 CA410137761	286	Y>*	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1276549539 CA410137717	288	F>L		No	ClinGen gnomAD
CA10010487 rs776562020	289	T>S		No	ClinGen ExAC gnomAD
CA10010486 rs768499054	290	V>A		No	ClinGen ExAC gnomAD
rs759427178 CA320120833	292	F>C		No	ClinGen Ensembl
CA10010483 rs542296982	293	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757636594 CA410137635	293	R>P		No	ClinGen ExAC TOPMed gnomAD
rs757636594 CA10010482	293	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1363072955 CA410137554	296	G>A		No	ClinGen gnomAD
CA410137533 rs148095112	298	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10010481 rs148095112	298	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1446417479 CA410137523	298	A>V		No	ClinGen gnomAD
rs757469136 CA10010480	299	G>A		No	ClinGen ExAC
rs1479816645 CA410137392	303	I>M		No	ClinGen TOPMed
rs756425637 CA10010478	306	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756425637 CA10010477	306	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs146301000 CA10010476	307	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs762575148 CA10010474	307	I>M		No	ClinGen ExAC gnomAD
rs1458455259 CA410137281	309	P>L		No	ClinGen gnomAD
rs1367991380 CA410137274	310	T>A		No	ClinGen TOPMed gnomAD
rs1185643780 CA410137225	312	R>*		No	ClinGen TOPMed gnomAD
rs751927127 CA10010473	312	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA410137197 rs1388480712	313	G>D		No	ClinGen gnomAD
CA410137200 rs1253636352	313	G>S		No	ClinGen gnomAD
rs1182618992 CA410137118	316	E>G		No	ClinGen gnomAD
CA10010471 rs761560613	317	A>T		No	ClinGen ExAC gnomAD
rs1330053141 CA410137033	320	N>D		No	ClinGen TOPMed
CA320120744 rs898637106	320	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1322225569 CA410135500	327	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410135482 rs1383970683	328	P>L		No	ClinGen TOPMed gnomAD
CA410135464 rs775130920	330	I>K		No	ClinGen ExAC gnomAD
CA10010446 rs775130920	330	I>R		No	ClinGen ExAC gnomAD
CA10010444 rs759408217	332	E>K		No	ClinGen ExAC gnomAD
rs199989677 CA10010443	333	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs752565840 CA320119497	335	H>R		No	ClinGen Ensembl
rs369488404 CA10010441	339	T>A		No	ClinGen ESP ExAC gnomAD
CA410135234 rs1196718351	341	S>F		No	ClinGen gnomAD
rs1307753258 CA410135208	342	G>A		No	ClinGen gnomAD
CA10010439 rs146461848	344	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10010438 rs368570176	344	S>R		No	ClinGen ESP ExAC gnomAD
rs146461848 CA10010440	344	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	345	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463281327 CA410135123	347	Y>*		No	ClinGen gnomAD
rs1207639195 CA410135125	347	Y>C		No	ClinGen gnomAD
rs887928187 CA320119447	348	G>E		No	ClinGen TOPMed gnomAD
CA410135093 rs1201389346	349	E>A		No	ClinGen gnomAD
rs149158600 CA10010419	350	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10010418 rs149158600	350	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768933410 CA10010417	351	Q>P		No	ClinGen ExAC gnomAD
CA410134942 rs1447614813	354	S>G		No	ClinGen gnomAD
rs772689954 CA10010414	355	D>E		No	ClinGen ExAC gnomAD
rs748872375 CA10010413	356	E>Q		No	ClinGen ExAC gnomAD
rs755049929 CA10010412	359	E>K		No	ClinGen ExAC gnomAD
CA320119339 rs866185028	363	S>F		No	ClinGen Ensembl
rs1419480277 CA410134777	364	W>R		No	ClinGen TOPMed
rs1415355246 CA410134751	365	L>P		No	ClinGen gnomAD
CA410134713 rs1419851437	368	M>L		No	ClinGen gnomAD
rs1163441009 CA410134685	369	G>A		No	ClinGen gnomAD
CA320119334 rs753980885	370	V>A		No	ClinGen Ensembl
rs373892714 CA320119327	371	Q>E		No	ClinGen ESP TOPMed
rs924485427 CA320119323	374	I>F		No	ClinGen TOPMed gnomAD
CA410134585 rs1188547714	375	K>N		No	ClinGen gnomAD
rs997405229 CA320119314	375	K>R		No	ClinGen Ensembl
TCGA novel	376	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	379	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410134524 rs1408916609	379	I>R		No	ClinGen TOPMed
CA10010409 rs373262818	379	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA410134521 COSM174740 rs1251689801	380	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs549882500 CA10010408	382	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10010407 rs754779511	383	K>R		No	ClinGen ExAC gnomAD
CA320119292 rs754779511	383	K>T		No	ClinGen ExAC gnomAD
COSM1250592 rs758139862 CA10010384	385	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA320118978 rs758139862	385	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10010383 rs750390868	385	R>H		No	ClinGen ExAC TOPMed gnomAD
rs765189899 CA10010382	386	K>R		No	ClinGen ExAC gnomAD
CA10010379 rs201828095	389	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1435346296 CA410134342	390	E>D		No	ClinGen gnomAD
rs142081989 CA10010378	390	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388289814 CA410134352	390	E>K		No	ClinGen gnomAD
CA410134329 rs760980116	391	V>E		No	ClinGen ExAC gnomAD
CA10010377 rs760980116	391	V>G		No	ClinGen ExAC gnomAD
CA10010375 rs775808423	398	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs766241167 CA320118969	400	V>A		No	ClinGen Ensembl
rs772599656 COSM1632463 CA10010374	402	L>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1231497130 CA410133993	404	K>Q		No	ClinGen TOPMed
rs937979347 CA320118967	408	T>I		No	ClinGen Ensembl
CA10010372 rs774773262	410	T>A		No	ClinGen ExAC TOPMed gnomAD
rs747680781 CA10010370	411	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771456201 CA10010371	411	L>V		No	ClinGen ExAC gnomAD
rs1301868428 CA410133816	411	L>W		No	ClinGen gnomAD
TCGA novel	413	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410133752 rs1368098360	414	F>S		No	ClinGen gnomAD
rs776211862 CA10010369	415	L>F		No	ClinGen ExAC gnomAD
CA320118930 rs929436066	417	N>K		No	ClinGen gnomAD
CA410133660 rs1387446454	418	S>A		No	ClinGen gnomAD
rs768099763 CA10010367	420	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10010366 rs746684601	422	V>A		No	ClinGen ExAC gnomAD
CA320118914 rs145111026	422	V>L		No	ClinGen ESP
rs199603022 CA320118901	423	A>S		No	ClinGen Ensembl
CA10010365 rs779641743	424	T>I		No	ClinGen ExAC gnomAD
rs1433402284 CA410133500	424	T>P		No	ClinGen gnomAD
CA10010364 rs758229811	425	S>*		No	ClinGen ExAC gnomAD
CA10010363 rs149183836	429	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA410133409 rs149183836	429	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	430	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410133408 rs1183869069	430	G>R		No	ClinGen gnomAD
rs778769757 CA10010362	431	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1256400575 CA410133384	432	P>S		No	ClinGen TOPMed gnomAD
CA410133320 rs1228451884	436	L>F		No	ClinGen gnomAD
rs1276769096 CA410133325	436	L>S		No	ClinGen gnomAD
CA410133296 rs1221130630	438	P>A		No	ClinGen TOPMed
CA410133277 rs1397446763	439	V>D		No	ClinGen gnomAD
rs753648048 CA10010359	442	R>*		No	ClinGen ExAC gnomAD
rs764280645 CA10010358	442	R>Q		No	ClinGen ExAC gnomAD
CA10010357 rs756225695	443	G>V		No	ClinGen ExAC gnomAD
rs753011971 CA10010356	445	T>A		No	ClinGen ExAC gnomAD
CA410133124 rs1371431808	446	M>I		No	ClinGen gnomAD
rs1009084664 CA320118864	446	M>V		No	ClinGen TOPMed gnomAD
rs138335198 CA10010355	447	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410133044 rs1271524582	448	M>I		No	ClinGen TOPMed
rs1437544261 CA410133008	450	K>R		No	ClinGen TOPMed
CA410132013 rs1475938224	451	A>T		No	ClinGen TOPMed
CA10010329 rs766790421	452	R>Q		No	ClinGen ExAC TOPMed
rs751675539 COSM170022 CA10010330	452	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1331621368 CA410131876	458	T>R		No	ClinGen TOPMed gnomAD
rs773747139 CA10010325	462	S>T		No	ClinGen ExAC gnomAD
rs190773441 CA320117665	463	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs190773441 CA10010324	463	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313728702 CA638053419	464	Y>*		No	ClinGen TOPMed
rs959843545 CA320117652	464	Y>H		No	ClinGen gnomAD
rs1569074441 CA410131753	465	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA320117648 rs1035552737	466	D>E		No	ClinGen gnomAD
CA410131703 rs1357430160	467	Q>L		No	ClinGen TOPMed
rs1324084079 CA410131676	468	F>C		No	ClinGen gnomAD
CA10010323 rs760236557	468	F>L		No	ClinGen ExAC gnomAD
CA410131653 rs1286346460	470	L>S		No	ClinGen TOPMed
rs771502356 CA10010321	471	E>A		No	ClinGen ExAC TOPMed gnomAD
CA10010322 RCV000891005 rs140592434	471	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1469501352 CA410131626	472	I>V		No	ClinGen gnomAD
rs905816355 CA320117616	473	T>I		No	ClinGen gnomAD
CA10010319 rs773823866	475	P>H		No	ClinGen ExAC gnomAD
rs749015296 CA410131537	476	I>N		No	ClinGen ExAC gnomAD
rs749015296 CA10010317	476	I>T		No	ClinGen ExAC gnomAD
CA10010318 rs770802007	476	I>V		No	ClinGen ExAC TOPMed gnomAD
CA410131530 rs1301407650	477	M>V		No	ClinGen gnomAD
CA10010316 rs372126686	478	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10010315 rs560084014	480	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA320117590 rs1031998264	482	H>R		No	ClinGen TOPMed
rs544638959 CA10010313	482	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA410131419 rs1601310705	483	S>P		No	ClinGen Ensembl
CA410131383 rs1234641969	485	T>I		No	ClinGen gnomAD
rs200678291 CA320117564	486	M>I		No	ClinGen 1000Genomes
rs780104963 CA10010310	486	M>V		No	ClinGen ExAC gnomAD
rs758843533 CA10010309	487	L>P		No	ClinGen ExAC gnomAD
rs1399878741 CA410131319	489	K>Q		No	ClinGen gnomAD
CA10010307 rs146664036 RCV000913292	489	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	491	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768830292 CA320117534	493	S>N		No	ClinGen Ensembl
CA410131239 rs1184609932	495	S>F		No	ClinGen TOPMed
CA410131235 rs1376223846	496	F>L		No	ClinGen TOPMed
CA10010306 rs762311856	496	F>S		No	ClinGen ExAC gnomAD
rs1013780286 CA320117520	497	S>F		No	ClinGen TOPMed
rs574138861 CA10010304	501	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1192049796 CA410131176	501	Y>H		No	ClinGen gnomAD
TCGA novel	501	Y>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10010303 rs758939875	502	P>L		No	ClinGen ExAC gnomAD
CA410131162 rs1569074340	502	P>S		No	ClinGen Ensembl
CA410131124 rs1374184533	505	P>A		No	ClinGen TOPMed
rs1343027989 CA410131107	506	T>A		No	ClinGen TOPMed gnomAD
CA320117479 rs1002453914	508	V>E		No	ClinGen TOPMed gnomAD
CA10010299 rs773150070	508	V>I		No	ClinGen ExAC gnomAD
rs375735257 CA10010297	509	F>L		No	ClinGen ESP ExAC gnomAD
TCGA novel	509	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1052326482 CA320117468	511	I>T		No	ClinGen Ensembl
rs1396450720 CA410131006	511	I>V		No	ClinGen gnomAD
CA410130915 rs932168555	514	Q>H		No	ClinGen TOPMed gnomAD
CA10010294 rs768818442	514	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA410130901 rs1474227968	515	M>T		No	ClinGen gnomAD
rs747034538 CA10010293	515	M>V		No	ClinGen ExAC gnomAD
rs145014824 CA10010292	516	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145014824 CA410130886	516	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410130856 rs1485570500	517	K>E		No	ClinGen gnomAD
rs1376545072 CA410130758	520	D>G		No	ClinGen TOPMed gnomAD
rs201487323 CA10010288	521	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs201487323 CA10010289	521	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs750576423 CA10010290	521	M>V		No	ClinGen ExAC gnomAD
rs957480991 CA320116715	523	V>D		No	ClinGen gnomAD
CA10010264 rs756584370	525	H>R		No	ClinGen ExAC TOPMed gnomAD
rs141237312 CA10010263 RCV000951159	529	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749722029 CA10010261	530	N>D		No	ClinGen ExAC TOPMed gnomAD
CA10010262 rs749722029	530	N>H		No	ClinGen ExAC TOPMed gnomAD
CA410129680 rs1369228533	531	C>S		No	ClinGen TOPMed
CA410129627 rs1344968218	532	G>A		No	ClinGen gnomAD
rs1161809165 CA410129578	534	H>P		No	ClinGen gnomAD
rs529567515 CA10010258	535	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA410129560 rs529567515	535	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA10010259 rs764959235	535	P>S		No	ClinGen ExAC TOPMed gnomAD
CA10010260 rs764959235	535	P>T		No	ClinGen ExAC TOPMed gnomAD
CA410129526 rs1271898015	536	N>S		No	ClinGen TOPMed
rs776282583 CA10010257	537	T>A		No	ClinGen ExAC gnomAD
CA10010256 rs763879389	537	T>I		No	ClinGen ExAC gnomAD
rs763879389 CA410129501	537	T>S		No	ClinGen ExAC gnomAD
CA410129443 rs1003541624	539	E>D		No	ClinGen gnomAD
RCV000882693 rs147521584 CA10010255	539	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA320116684 rs751648673	541	L>F		No	ClinGen gnomAD
rs775449454 CA10010254	542	S>I		No	ClinGen ExAC gnomAD
rs1601308818 CA410129373	542	S>R		No	ClinGen Ensembl
rs772168759 CA10010253	544	I>V		No	ClinGen ExAC gnomAD
CA10010251 rs774616573	545	P>L		No	ClinGen ExAC gnomAD
TCGA novel	545	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10010252 rs745916219	545	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1186162455 CA410129239	546	L>S		No	ClinGen TOPMed
CA10010249 rs749446485	550	S>L		No	ClinGen ExAC TOPMed gnomAD
rs778013273 CA10010248	552	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10010246 rs748637250	553	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs113553347 CA10010247	553	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1012950140 CA320116635	556	V>L		No	ClinGen TOPMed gnomAD
rs1012950140 CA410128944	556	V>M		No	ClinGen TOPMed gnomAD
CA410128913 rs749937330	557	L>P		No	ClinGen ExAC TOPMed gnomAD
CA10010243 rs749937330	557	L>R		No	ClinGen ExAC TOPMed gnomAD
rs756970023 CA10010241	559	D>A		No	ClinGen ExAC gnomAD
rs1401345729 CA410128886	559	D>N		No	ClinGen TOPMed
CA320116597 rs940080293	560	Y>C		No	ClinGen Ensembl
CA410128824 rs1452698968	561	I>T		No	ClinGen TOPMed gnomAD
CA410128756 rs1189478135	565	R>K		No	ClinGen gnomAD
CA10010240 rs753472885	566	S>Y		No	ClinGen ExAC gnomAD
rs1171137998 CA410128732	567	S>R		No	ClinGen gnomAD

2 associated diseases with Q9NYP3

[MIM: 251230]: Microcephaly-micromelia syndrome (MIMIS)

A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. {ECO:0000269|PubMed:28630177}. Note=The disease is caused by variants affecting the gene represented in this entry. This extremely rare syndrome is caused by an intronic mutation that leads to the retention of intron 6, probably resulting in non-sense mediated mRNA decay. This isoform has also been detected in healthy tissues, but at much lower levels than in MIMIS samples. {ECO:0000269|PubMed:28630177}.

[MIM: 617604]: Microcephaly, short stature, and limb abnormalities (MISSLA)

An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients. {ECO:0000269|PubMed:28191891}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. {ECO:0000269|PubMed:28630177}. Note=The disease is caused by variants affecting the gene represented in this entry. This extremely rare syndrome is caused by an intronic mutation that leads to the retention of intron 6, probably resulting in non-sense mediated mRNA decay. This isoform has also been detected in healthy tissues, but at much lower levels than in MIMIS samples. {ECO:0000269|PubMed:28630177}.
An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients. {ECO:0000269|PubMed:28191891}. Note=The disease is caused by variants affecting the gene represented in this entry.

No regional properties for Q9NYP3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NYP3

Functions

		Description
EC Number
Subcellular Localization	Nucleus	Localizes at DNA replication sites
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
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.
replication fork	The Y-shaped region of a replicating DNA molecule, resulting from the separation of the DNA strands and in which the synthesis of new strands takes place. Also includes associated protein complexes.
replisome	A multi-component enzymatic machine at the replication fork which mediates DNA replication. Includes DNA primase, one or more DNA polymerases, DNA helicases, and other proteins.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name	Definition
DNA damage checkpoint signaling	A signal transduction process that contributes to a DNA damage checkpoint.
DNA replication	The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA.
mitotic G2 DNA damage checkpoint signaling	A mitotic cell cycle checkpoint that detects and negatively regulates progression through the G2/M transition of the cell cycle in response to DNA damage.
nuclear DNA replication	The DNA-dependent DNA replication that occurs in the nucleus of eukaryotic organisms as part of the cell cycle.
replication fork protection	Any process that prevents the collapse of stalled replication forks.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6P1U0	donson	Protein downstream neighbor of son homolog	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MALSVPGYSP	GFRKPPEVVR	LRRKRARSRG	AAASPPRELT	EPAARRAALV	AGLPLRPFPA
70	80	90	100	110	120
AGGRGGGSGG	GPAAARRNPF	ARLDNRPRVA	AEPPDGPARE	QPEAPVPFLD	SNQENDLLWE
130	140	150	160	170	180
EKFPERTTVT	ELPQTSHVSF	SEPDIPSSKS	TELPVDWSIK	TRLLFTSSQP	FTWADHLKAQ
190	200	210	220	230	240
EEAQGLVQHC	RATEVTLPKS	IQDPKLSSEL	RCTFQQSLIY	WLHPALSWLP	LFPRIGADRK
250	260	270	280	290	300
MAGKTSPWSN	DATLQHVLMS	DWSVSFTSLY	NLLKTKLCPY	FYVCTYQFTV	LFRAAGLAGS
310	320	330	340	350	360
DLITALISPT	TRGLREAMRN	EGIEFSLPLI	KESGHKKETA	SGTSLGYGEE	QAISDEDEEE
370	380	390	400	410	420
SFSWLEEMGV	QDKIKKPDIL	SIKLRKEKHE	VQMDHRPESV	VLVKGINTFT	LLNFLINSKS
430	440	450	460	470	480
LVATSGPQAG	LPPTLLSPVA	FRGATMQMLK	ARSVNVKTQA	LSGYRDQFSL	EITGPIMPHS
490	500	510	520	530	540
LHSLTMLLKS	SQSGSFSAVL	YPHEPTAVFN	ICLQMDKVLD	MEVVHKELTN	CGLHPNTLEQ
550	560
LSQIPLLGKS	SLRNVVLRDY	IYNWRS