AiPD: Autoinhibited Protein Database

Q9NYF3

Gene name	FAM53C
Protein name	Protein FAM53C
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51307
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

86-336 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

86-336 (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 Q9NYF3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NYF3-F1	Predicted				AlphaFoldDB

330 variants for Q9NYF3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA361080997 rs1561741750	3	T>N		No	ClinGen Ensembl
rs762018737 CA3428319	4	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1580853837 CA361081031	5	I>M		No	ClinGen Ensembl
CA3428320 rs199889698	6	T>A		No	ClinGen ExAC TOPMed gnomAD
rs773296004 CA3428321	6	T>I		No	ClinGen ExAC gnomAD
rs773296004 CA361081041	6	T>N		No	ClinGen ExAC gnomAD
rs766265070 CA3428323	8	Q>E		No	ClinGen ExAC gnomAD
rs1441469508 CA361081098	8	Q>H		No	ClinGen gnomAD
rs753544259 CA3428324	9	L>V		No	ClinGen ExAC
CA361081132 rs1208586402	10	Q>R		No	ClinGen TOPMed
CA3428326 rs764819075	13	T>A		No	ClinGen ExAC TOPMed gnomAD
rs764819075 CA3428327	13	T>S		No	ClinGen ExAC TOPMed gnomAD
CA361081213 rs1580853885	15	D>G		No	ClinGen Ensembl
rs1475421187 CA361081226	16	E>K		No	ClinGen TOPMed gnomAD
rs1475421187 CA361081229	16	E>Q		No	ClinGen TOPMed gnomAD
CA3428328 VAR_053089 rs35360938	21	R>C		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs368443404 CA3428330	21	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3428329 rs368443404	21	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3428331 rs371912705	25	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361081371 rs1174019958	25	S>R		No	ClinGen gnomAD
CA3428332 rs780519457	26	L>M		No	ClinGen ExAC gnomAD
CA3428355 rs779323140	27	P>S		No	ClinGen ExAC gnomAD
CA128150967 rs995466948	30	D>H		No	ClinGen gnomAD
CA3428356 rs748449648	31	H>D		No	ClinGen ExAC gnomAD
CA361081910 rs1469374764	32	A>G		No	ClinGen TOPMed gnomAD
rs572009368 CA3428358	33	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1456255330 CA361081916	33	D>H		No	ClinGen TOPMed
rs747106495 CA3428359	34	I>F		No	ClinGen ExAC TOPMed gnomAD
CA361081928 rs1183693754	34	I>M		No	ClinGen gnomAD
rs747106495 CA361081924	34	I>V		No	ClinGen ExAC TOPMed gnomAD
rs771002511 CA3428360	36	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771002511 CA361081938	36	N>T		No	ClinGen ExAC TOPMed gnomAD
CA361081962 rs1580854440	38	G>E		No	ClinGen Ensembl
rs377620767 CA3428361	39	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361082005 rs1379524666	41	F>L		No	ClinGen TOPMed
CA361082001 rs1211913567	41	F>S		No	ClinGen TOPMed gnomAD
rs1332653482 CA361082025	42	Q>H		No	ClinGen TOPMed
CA3428362 rs745757866	45	S>P		No	ClinGen ExAC gnomAD
rs761514496 CA3428387	47	G>V		No	ClinGen ExAC gnomAD
CA3428388 rs374631628	48	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs936780210 CA128153003	54	P>S		No	ClinGen TOPMed gnomAD
CA361082884 rs1331248280	55	H>P		No	ClinGen TOPMed
rs1178596769 CA361082902	56	C>W		No	ClinGen TOPMed gnomAD
rs182534639 CA3428390	57	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3428389 rs182534639	57	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3428391 rs765865783	58	C>R		No	ClinGen ExAC TOPMed gnomAD
CA3428392 rs753214374	59	A>V		No	ClinGen ExAC gnomAD
rs763414033 CA3428393	60	E>D		No	ClinGen ExAC TOPMed gnomAD
CA361083014 rs1580857622	63	D>A		No	ClinGen Ensembl
rs764495290 CA3428394	64	S>N		No	ClinGen ExAC gnomAD
CA3428395 rs577236101	65	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs35825467 CA3428397	66	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA361083076 rs1455194060	66	N>S		No	ClinGen TOPMed
rs1383369247 CA361083105	67	F>L		No	ClinGen TOPMed gnomAD
rs1376542527 CA361083089	67	F>L		No	ClinGen gnomAD
CA3428398 rs750491114	68	S>T		No	ClinGen ExAC TOPMed gnomAD
CA128153046 rs140113568	70	H>N		No	ClinGen ESP TOPMed gnomAD
CA128153048 rs370833275	70	H>P		No	ClinGen ESP gnomAD
CA361083195 rs1282396290	72	S>*		No	ClinGen TOPMed gnomAD
rs1482423812 CA361083254	77	H>Y		No	ClinGen gnomAD
TCGA novel	79	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768502456 CA3428402	80	P>S		No	ClinGen ExAC gnomAD
CA361083348 rs1449388491	81	P>L		No	ClinGen gnomAD
CA3428403 rs143912652	82	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35125843 CA128153082	82	S>I		No	ClinGen Ensembl
rs146380618 CA3428405	83	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3428404 rs747796639	83	R>W		No	ClinGen ExAC gnomAD
rs765143357 CA128153100	85	N>H		No	ClinGen gnomAD
rs1458531601 CA361083408	85	N>K		No	ClinGen gnomAD
CA3428408 rs760261886	86	S>C		No	ClinGen ExAC TOPMed gnomAD
rs760261886 CA3428407	86	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs776153922 CA361083439	87	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776153922 CA3428409	87	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	88	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276496966 CA361083508	90	Q>*		No	ClinGen gnomAD
TCGA novel	91	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333015968 CA361083531	91	P>T		No	ClinGen TOPMed
CA361083549 rs1286126620	92	F>V		No	ClinGen TOPMed
rs901491643 CA128153118	94	Q>R		No	ClinGen TOPMed
CA3428412 rs542108493	95	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1340779405 CA361083600	95	V>I		No	ClinGen TOPMed
CA361083709 rs1210890570	98	P>A		No	ClinGen gnomAD
TCGA novel	99	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1390720110 CA361083762	100	P>H		No	ClinGen TOPMed
rs901436939 CA128153137	100	P>S		No	ClinGen Ensembl
CA3428415 rs750547179	102	D>H		No	ClinGen ExAC gnomAD
rs1248917461 CA361083834	103	P>S		No	ClinGen gnomAD
rs1190951616 CA361083865	104	E>D		No	ClinGen gnomAD
CA361083891 rs1423595095	105	K>R		No	ClinGen gnomAD
CA3428417 rs780097921	107	P>R		No	ClinGen ExAC gnomAD
rs148624528 CA3428418	108	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128153178 rs868127502	109	P>S		No	ClinGen TOPMed gnomAD
CA3428419 rs754879527	110	P>L		No	ClinGen ExAC gnomAD
rs748000190 CA3428421	112	P>S		No	ClinGen ExAC gnomAD
TCGA novel	115	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580857993 CA361084100	117	H>P		No	ClinGen Ensembl
rs1487283188 CA361084096	117	H>Y		No	ClinGen gnomAD
CA3428422 rs758087734	119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1025812024 CA128153207	119	R>H		No	ClinGen TOPMed gnomAD
rs746584721 CA3428424	120	S>L		No	ClinGen ExAC gnomAD
rs1226612560 CA361084236	123	V>A		No	ClinGen gnomAD
CA361084292 rs1580858075	126	D>A		No	ClinGen Ensembl
rs200104466 CA3428428	129	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3428429 rs151178605 COSM332446	129	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs151178605 CA3428430	129	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs552318815 CA3428431	130	W>S		No	ClinGen 1000Genomes ExAC gnomAD
rs773544375 CA3428432	132	P>L		No	ClinGen ExAC gnomAD
rs766486600 CA3428434	133	V>A		No	ClinGen ExAC gnomAD
rs766486600 CA361084404	133	V>G		No	ClinGen ExAC gnomAD
CA3428437 rs753894542	135	R>L		No	ClinGen ExAC gnomAD
rs753894542 CA3428436	135	R>Q		No	ClinGen ExAC gnomAD
rs1561744235 CA361084435	135	R>W		No	ClinGen Ensembl
rs765249178 CA3428438	136	P>A		No	ClinGen ExAC gnomAD
rs1580858156 CA361084454	136	P>R		No	ClinGen Ensembl
rs758225433 CA3428440	137	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758225433 CA3428441	137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1225856334 CA361084495	138	P>S		No	ClinGen TOPMed
CA3428444 rs780894661	139	S>P		No	ClinGen ExAC gnomAD
CA128153317 rs866936994	140	K>Q		No	ClinGen Ensembl
rs1440363579 CA361084559	143	T>P		No	ClinGen gnomAD
CA3428445 rs745391108	145	I>V		No	ClinGen ExAC gnomAD
rs970673688 CA128153325	148	R>Q		No	ClinGen Ensembl
CA3428446 rs563199515	148	R>W		No	ClinGen ExAC TOPMed gnomAD
rs978379947 CA128153327	149	G>S		No	ClinGen Ensembl
CA3428447 rs774938383	150	S>I		No	ClinGen ExAC gnomAD
CA361084697 rs1344987830	151	G>V		No	ClinGen gnomAD
rs748593914 CA3428448	153	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3428449 rs772559339	153	G>V		No	ClinGen ExAC TOPMed
CA3428450 rs528140489	156	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140173423 CA3428452	157	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3428453 rs776795786	158	V>G		No	ClinGen ExAC gnomAD
CA361084819 rs1431972880	159	P>S		No	ClinGen TOPMed
CA3428459 rs386352301	164	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	164	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000122490 CA232188 rs386352301	164	P>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA3428460 rs751374748	165	K>N		No	ClinGen ExAC TOPMed gnomAD
rs568037662 CA3428461	166	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128153411 rs911297544	166	R>W		No	ClinGen TOPMed
rs1272699882 CA361085036	168	S>C		No	ClinGen TOPMed
CA361085090 rs1447352928	171	R>G		No	ClinGen gnomAD
rs1202785455 CA361085101	171	R>K		No	ClinGen TOPMed
CA361085140 rs371559600	173	L>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3428463 rs371559600	173	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361085174 rs201548087	174	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361085227 rs1271050525	176	P>L		No	ClinGen TOPMed
CA3428465 rs779426709	178	A>V		No	ClinGen ExAC gnomAD
CA3428466 rs748729955	181	Q>P		No	ClinGen ExAC gnomAD
rs778207124 CA3428468	182	C>Y		No	ClinGen ExAC gnomAD
rs747407750 CA3428469	183	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361085403 rs1276159670	184	P>L		No	ClinGen TOPMed
rs374937112 CA3428471	185	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361085460 rs1249408791	186	H>Q		No	ClinGen gnomAD
rs1305734075 CA361085508	188	P>R		No	ClinGen TOPMed
rs769978660 CA3428473	189	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3428472 rs759738000	189	Y>H		No	ClinGen ExAC gnomAD
rs1388276180 CA361085563	190	S>R		No	ClinGen gnomAD
rs202212048 CA128153455	191	P>S		No	ClinGen Ensembl
TCGA novel	192	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371631543 CA361085618	193	F>S		No	ClinGen TOPMed
rs569211245 CA3428474	195	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1561744542 CA361085688	195	S>R		No	ClinGen Ensembl
CA3428475 rs762996492	199	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361085736 rs762996492	199	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1413313085 CA361085762	200	Q>E		No	ClinGen TOPMed
rs763960131 CA3428476	203	S>F		No	ClinGen ExAC gnomAD
rs539762304 CA3428477	204	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1331812168 CA361085855	205	P>R		No	ClinGen TOPMed gnomAD
CA361085845 rs1390844164	205	P>T		No	ClinGen TOPMed gnomAD
rs1435921216 CA361085863	206	C>R		No	ClinGen gnomAD
rs930249552 CA128153461	207	A>T		No	ClinGen TOPMed gnomAD
CA128153464 rs1047753898	207	A>V		No	ClinGen gnomAD
CA3428481 rs755692297	208	A>D		No	ClinGen ExAC gnomAD
CA3428480 rs750168384	208	A>T		No	ClinGen ExAC gnomAD
TCGA novel	210	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3428483 rs753315065	210	P>S		No	ClinGen ExAC gnomAD
rs867859023 CA128153490	212	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs754474636 CA3428484	213	G>C		No	ClinGen ExAC gnomAD
CA3428485 rs778260054	215	W>G		No	ClinGen ExAC gnomAD
CA361086034 rs1580858669	216	E>G		No	ClinGen Ensembl
rs1434891222 CA361086023	216	E>K		No	ClinGen gnomAD
rs747455419 CA3428486	217	S>G		No	ClinGen ExAC TOPMed gnomAD
rs771338958 CA361086061 CA3428487	217	S>R		No	ClinGen ExAC gnomAD
CA361086077 rs1476922080	218	D>G		No	ClinGen gnomAD
TCGA novel	218	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	220	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252345775 CA361086119	221	S>F		No	ClinGen TOPMed
rs1037441232 CA128153498	223	S>L		No	ClinGen Ensembl
CA3428488 rs377082233	225	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1174475475 CA361086169	228	Q>E		No	ClinGen gnomAD
rs746138113 CA3428489	228	Q>L		No	ClinGen ExAC gnomAD
CA3428490 rs769884886	229	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128153535 COSM4155467 rs894917474	229	R>H	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
CA128153537 rs765998407	230	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs775731694 CA3428491	230	R>H		No	ClinGen ExAC gnomAD
CA361086201 rs1561744725	233	L>P		No	ClinGen Ensembl
CA128153548 rs369390559	235	P>T		No	ClinGen Ensembl
rs1580858779 CA361086217	236	S>T		No	ClinGen Ensembl
rs369636070 CA3428494	237	L>P		No	ClinGen ESP ExAC gnomAD
CA361086231 rs1580858803	238	G>D		No	ClinGen Ensembl
CA3428496 rs187712586	239	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128153557 rs1014642998	241	A>E		No	ClinGen Ensembl
rs1561744773 CA361086264	242	S>N		No	ClinGen Ensembl
rs753021125 CA3428498	243	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1061302 CA3428499 rs34113804	243	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA128153560 rs34113804	243	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3428500 rs753466980	244	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1266607596 CA361086327	247	S>T		No	ClinGen TOPMed gnomAD
rs754457036 CA3428501	248	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764710980 CA3428502	248	A>V		No	ClinGen ExAC gnomAD
rs200509974 CA3428504	249	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs71596570 CA3428503	249	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361086380 rs1158454508	250	S>N		No	ClinGen gnomAD
CA3428505 rs781586111	252	P>S		No	ClinGen ExAC gnomAD
CA3428508 rs756459546	253	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3428507 rs756459546	253	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	253	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403462074 CA361086432	254	S>P		No	ClinGen gnomAD
rs138917148 CA128153626	259	P>L		No	ClinGen ESP gnomAD
rs535078590 CA3428510	261	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361086551 rs1322940586	262	P>T		No	ClinGen gnomAD
rs774542593 CA3428511	266	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774542593 CA361086612	266	R>G		No	ClinGen ExAC TOPMed gnomAD
rs748145088 CA3428512	266	R>H		No	ClinGen ExAC gnomAD
CA3428513 rs772161962	267	N>D		No	ClinGen ExAC gnomAD
CA361086631 rs773165338	267	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3428514 rs773165338	267	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361086640 rs1239137502	268	L>V		No	ClinGen TOPMed
CA361086657 rs1252338992	269	P>S		No	ClinGen gnomAD
rs1252338992 CA361086654	269	P>T		No	ClinGen gnomAD
CA3428515 rs760393838	270	R>*		No	ClinGen ExAC TOPMed gnomAD
rs766141980 CA3428516	272	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776202812 CA3428517	272	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759181934 CA3428518	275	P>L		No	ClinGen ExAC TOPMed gnomAD
rs112619058 CA128153683	275	P>S		No	ClinGen Ensembl
CA3428520 rs192405102	276	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3428521 rs192405102	276	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574773731 CA3428522	277	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs990451663 CA128153708	277	D>H		No	ClinGen TOPMed
CA361086795 rs1226973855	280	A>T		No	ClinGen TOPMed
rs1429528310 CA361086800	280	A>V		No	ClinGen gnomAD
CA3428523 rs750874638 COSM1242259	281	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1130931 rs756447468 CA128153744	281	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756447468 CA3428524	281	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3428526 rs541850859	283	T>N		No	ClinGen 1000Genomes ExAC
TCGA novel	285	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361086854 rs1380473050	287	R>Q		No	ClinGen gnomAD
CA128153764 rs756457496	287	R>W		No	ClinGen TOPMed
CA361086865 rs1333117431	288	R>C		No	ClinGen TOPMed gnomAD
CA3428529 rs754557833	288	R>H		No	ClinGen ExAC TOPMed gnomAD
rs748273757 CA3428530	289	H>Y		No	ClinGen ExAC gnomAD
CA3428533 rs746956114	293	P>A		No	ClinGen ExAC gnomAD
rs201755627 CA3428535	294	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369625077 CA3428534	294	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759231137 CA3428536	295	R>C		No	ClinGen ExAC TOPMed gnomAD
CA3428537 rs764891439	295	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361087012 rs1210075867	297	R>Q		No	ClinGen TOPMed
CA361087049 rs1428250493	299	S>L		No	ClinGen gnomAD
CA361087107 rs750961329	302	F>L		No	ClinGen ExAC TOPMed gnomAD
rs752371665 CA128153827	303	D>A		No	ClinGen Ensembl
rs761214370 CA3428542	303	D>E		No	ClinGen ExAC gnomAD
CA361088201 rs1321725592	314	L>I		No	ClinGen TOPMed gnomAD
CA361088237 rs1324561765	315	C>*		No	ClinGen TOPMed
CA3428562 rs775135919	315	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1162802978 CA361088220	315	C>R		No	ClinGen gnomAD
rs1268909163 CA361088275	318	E>K		No	ClinGen gnomAD
CA3428564 rs768093171	320	A>V		No	ClinGen ExAC gnomAD
rs201985106 CA128154682	321	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3428565 rs201985106	321	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1333669638 CA361088318	321	R>W		No	ClinGen gnomAD
rs1390562200 CA361088333	322	E>G		No	ClinGen gnomAD
CA3428566 rs761179929	324	S>N		No	ClinGen ExAC gnomAD
rs1333836774 CA361088372	325	S>T		No	ClinGen TOPMed
rs1473403207 CA361088389	326	I>T		No	ClinGen gnomAD
CA361088405 rs1159253639	327	S>C		No	ClinGen TOPMed gnomAD
rs1391948129 CA361088419	328	P>S		No	ClinGen TOPMed
CA3428568 rs754332851	330	W>*		No	ClinGen ExAC gnomAD
CA361088452 rs1398470601	330	W>C		No	ClinGen gnomAD
COSM2156395 rs759996540 CA3428569	332	M>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs113580958 CA361088509	333	A>G		No	ClinGen gnomAD
rs113580958 CA128154694	333	A>V		No	ClinGen gnomAD
rs1301113281 CA361088521	334	C>Y		No	ClinGen gnomAD
rs753038614 CA361088561	335	S>R		No	ClinGen ExAC gnomAD
rs758612656 CA3428573	337	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361088592 rs758612656	337	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3428574 rs369095212	339	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA361088614 rs369095212	339	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292595548 CA361088635	340	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA128154712 rs552038703	342	S>F		No	ClinGen TOPMed gnomAD
CA361088675 rs1222201500	343	C>Y		No	ClinGen gnomAD
TCGA novel	345	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361088735 rs1182943677	346	T>S		No	ClinGen TOPMed
CA361088748 rs1423772629	347	G>V		No	ClinGen TOPMed
rs751679004 CA3428575	348	G>D		No	ClinGen ExAC gnomAD
rs1290127834 CA361088759	348	G>R		No	ClinGen gnomAD
rs757244107 CA3428576	349	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	350	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183140661 CA361088806	351	Q>R		No	ClinGen gnomAD
rs143642448 CA128154717	354	S>N		No	ClinGen ESP TOPMed gnomAD
CA3428578 rs781194240	356	S>R		No	ClinGen ExAC TOPMed gnomAD
rs769634360 CA3428579	357	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3428580 rs769634360	357	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs748991974 CA3428581	360	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3428582 rs768377116	362	G>E		No	ClinGen ExAC gnomAD
rs1335429098 CA361089003	362	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	363	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3428585 rs771429354	364	V>L		No	ClinGen ExAC gnomAD
rs760119242 CA3428587	365	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1061303 rs777338677 CA3428586	365	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3428589 rs765733710	367	G>R		No	ClinGen ExAC gnomAD
CA3428588 rs765733710	367	G>S		No	ClinGen ExAC gnomAD
CA3428590 rs763173653	368	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA128154858 rs758574669	368	R>W		No	ClinGen TOPMed gnomAD
rs764404077 CA3428591	369	Q>R		No	ClinGen ExAC
rs751665146 CA361089129	370	A>E		No	ClinGen ExAC TOPMed gnomAD
CA3428593 rs751665146	370	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3428595 rs567126798	372	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA128154895 rs566794397	372	S>R		No	ClinGen Ensembl
rs750425539 CA3428596	373	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA3428598 rs779920229	374	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756024971 CA3428597	374	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3428600 rs754663336	375	T>I		No	ClinGen ExAC gnomAD
CA3428599 rs535516466	375	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs778645299 CA3428601	377	C>Y		No	ClinGen ExAC gnomAD
CA361089247 rs1313511992	378	Q>P		No	ClinGen gnomAD
CA128154916 rs148080249	379	R>Q		No	ClinGen ESP TOPMed gnomAD
CA361089266 rs747747219	379	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1337034106 CA361089308	381	F>S		No	ClinGen gnomAD
CA361089368 rs1460443223	385	D>Y		No	ClinGen gnomAD
rs1580861068 CA361089397	386	L>F		No	ClinGen Ensembl
CA361089511 rs1201263369	392	N>S		No	ClinGen gnomAD

No associated diseases with Q9NYF3

No regional properties for Q9NYF3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NYF3

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein import into nucleus	The directed movement of a protein from the cytoplasm to the nucleus.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BXQ8	Fam53c	Protein FAM53C	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MITLITEQLQ	KQTLDELKCT	RFSISLPLPD	HADISNCGNS	FQLVSEGASW	RGLPHCSCAE
70	80	90	100	110	120
FQDSLNFSYH	PSGLSLHLRP	PSRGNSPKEQ	PFSQVLRPEP	PDPEKLPVPP	APPSKRHCRS
130	140	150	160	170	180
LSVPVDLSRW	QPVWRPAPSK	LWTPIKHRGS	GGGGGPQVPH	QSPPKRVSSL	RFLQAPSASS
190	200	210	220	230	240
QCAPAHRPYS	PPFFSLALAQ	DSSRPCAASP	QSGSWESDAE	SLSPCPPQRR	FSLSPSLGPQ
250	260	270	280	290	300
ASRFLPSARS	SPASSPELPW	RPRGLRNLPR	SRSQPCDLDA	RKTGVKRRHE	EDPRRLRPSL
310	320	330	340	350	360
DFDKMNQKPY	SGGLCLQETA	REGSSISPPW	FMACSPPPLS	ASCSPTGGSS	QVLSESEEEE
370	380	390
EGAVRWGRQA	LSKRTLCQRD	FGDLDLNLIE	EN