AiPD: Autoinhibited Protein Database

O00458

Gene name	IFRD1
Protein name	Interferon-related developmental regulator 1
Names	Nerve growth factor-inducible protein PC4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3475
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-55 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-55 (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 O00458

Entry ID	Method	Resolution	Chain	Position	Source
AF-O00458-F1	Predicted				AlphaFoldDB

347 variants for O00458

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs150651401 RCV000789967 CA4443608	172	I>V	Charcot-Marie-Tooth disease [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773505025 CA4443447	2	P>A		No	ClinGen ExAC gnomAD
rs144427603 CA4443448	2	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144427603 CA369086811	2	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1484684233 CA369086818	3	K>N		No	ClinGen TOPMed
rs1185179802 CA369086814	3	K>Q		No	ClinGen TOPMed
CA369086827 rs1218357299	4	N>K		No	ClinGen gnomAD
rs151204901 CA369086831	5	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4443450 rs151204901	5	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201162466 CA369086843	7	R>G		No	ClinGen gnomAD
CA165003676 rs564629125	7	R>L		No	ClinGen 1000Genomes
rs752143232 CA4443451	8	N>S		No	ClinGen ExAC gnomAD
rs1185751655 CA369086865	10	P>L		No	ClinGen gnomAD
rs1358058408 CA369086870	11	H>L		No	ClinGen TOPMed
rs1041874615 CA165003679	11	H>N		No	ClinGen Ensembl
CA369086875 rs1426447774	12	R>G		No	ClinGen gnomAD
rs1288989910 CA369086876	12	R>H		No	ClinGen TOPMed
rs1288989910 CA369086878	12	R>L		No	ClinGen TOPMed
rs1478053739 CA369086881	13	G>C		No	ClinGen gnomAD
rs150336380 CA4443454	14	S>G		No	ClinGen ExAC TOPMed gnomAD
rs756906927 CA4443455	14	S>R		No	ClinGen ExAC TOPMed gnomAD
CA369086892 rs1172743586	15	S>G		No	ClinGen gnomAD
CA4443456 rs767342314	18	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4443457 rs767342314	18	G>S		No	ClinGen ExAC TOPMed gnomAD
rs137896794 CA4443459	19	G>S		No	ClinGen ESP ExAC gnomAD
CA4443460 rs749340644	23	A>P		No	ClinGen ExAC gnomAD
CA4443461 rs373600693	25	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA165003680 rs913394439	26	A>T		No	ClinGen TOPMed gnomAD
CA165003681 rs946320691	28	A>S		No	ClinGen TOPMed gnomAD
CA4443462 rs779183830	28	A>V		No	ClinGen ExAC gnomAD
CA369086980 rs1345844951	30	T>I		No	ClinGen TOPMed gnomAD
CA4443465 rs773558311	31	A>T		No	ClinGen ExAC gnomAD
rs1294931545 CA369086983	31	A>V		No	ClinGen TOPMed gnomAD
rs947683122 CA165003682	32	G>C		No	ClinGen TOPMed gnomAD
rs748306600 CA165004302	32	G>D		No	ClinGen Ensembl
CA369087007 rs1323404436	33	G>D		No	ClinGen TOPMed gnomAD
TCGA novel	33	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1245332506 CA369087027	36	R>*		No	ClinGen gnomAD
rs145138662 CA165004304	37	N>D		No	ClinGen ESP gnomAD
VAR_064723	39	Q>K	found in a renal cell carcinoma sample; somatic mutation [UniProt]	No	UniProt
rs1563265823 CA369087056	40	P>R		No	ClinGen Ensembl
CA165004306 rs927418711	41	F>S		No	ClinGen TOPMed
CA369087060 rs1449402013	41	F>V		No	ClinGen TOPMed
CA369087066 rs1223188763	42	S>G		No	ClinGen TOPMed
CA369087070 rs1258261731	42	S>N		No	ClinGen gnomAD
rs756391593 CA165004307	43	D>G		No	ClinGen Ensembl
rs772709669 CA4443491	46	A>T		No	ClinGen ExAC gnomAD
rs1174950724 CA369087098	46	A>V		No	ClinGen gnomAD
rs535656420 CA165004308	47	S>A		No	ClinGen Ensembl
CA4443492 rs372855145	48	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	49	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369087128 rs1424898298 COSM3394473	51	M>V	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	52	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1003403723 CA165004309	53	H>N		No	ClinGen Ensembl
CA4443493 rs766264707	57	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1230357565 CA369087181	58	S>C		No	ClinGen TOPMed
CA4443495 rs139029166	59	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4443496 rs765099187	60	P>S		No	ClinGen ExAC gnomAD
rs375707852 CA4443497	64	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	70	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369087307 rs1489546749	74	E>D		No	ClinGen gnomAD
CA4443526 rs777082788	76	T>A		No	ClinGen ExAC gnomAD
CA369087326 rs1259508932	77	Q>H		No	ClinGen gnomAD
CA369087345 rs1333091980	80	L>V		No	ClinGen TOPMed
rs746529943 CA4443527	81	E>A		No	ClinGen ExAC gnomAD
rs911384151 CA165004311	83	K>R		No	ClinGen Ensembl
rs1426099331 CA369087422	91	T>N		No	ClinGen gnomAD
rs942809582 CA165004312	92	L>V		No	ClinGen Ensembl
CA4443530 rs759302905	93	D>G		No	ClinGen ExAC TOPMed gnomAD
rs753880466 CA165004313	94	K>E		No	ClinGen Ensembl
rs756796129 CA4443546	95	S>R		No	ClinGen ExAC TOPMed gnomAD
CA4443548 rs550593403	96	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4443549 rs550593403	96	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs749131911 CA4443551	103	L>R		No	ClinGen ExAC gnomAD
rs1563266293 CA369087512	104	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4443552 rs768440582	105	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1158231229 CA369087527	106	I>F		No	ClinGen gnomAD
TCGA novel	108	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246446772 CA369087569	112	S>L		No	ClinGen TOPMed
CA4443553 rs562479630	114	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs907783955 CA165004397	115	L>Q		No	ClinGen TOPMed
CA4443555 rs767576072	116	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	117	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369087624 rs1446578124	120	L>P		No	ClinGen Ensembl
rs760744367 CA4443557	121	E>K		No	ClinGen ExAC gnomAD
CA369087648 rs1403572942	124	M>V		No	ClinGen TOPMed
rs754099331 CA4443559	125	T>I		No	ClinGen ExAC
CA369087669 rs1334545331	127	T>A		No	ClinGen TOPMed gnomAD
rs200230784 CA4443560	127	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369087682 rs1260190798	129	S>G		No	ClinGen gnomAD
CA165004398 rs937049450	130	I>T		No	ClinGen TOPMed gnomAD
rs548522773 CA4443561	131	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4443562 rs376871952	132	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4443563 rs759032177 COSM1673462	132	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369087705 rs759032177	132	R>L		No	ClinGen ExAC TOPMed gnomAD
CA369087702 rs376871952	132	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780843547 CA4443564	133	C>F		No	ClinGen ExAC gnomAD
CA369087707 rs1183454110	133	C>R		No	ClinGen TOPMed gnomAD
rs1450635076 CA369087719	135	K>E		No	ClinGen TOPMed gnomAD
rs899954614 CA165004400	135	K>N		No	ClinGen TOPMed
CA4443566 rs141889729	135	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1410101368 CA369087732	137	G>R		No	ClinGen gnomAD
CA4443593 rs777795975	138	K>E		No	ClinGen ExAC gnomAD
rs746956896 CA4443594	138	K>R		No	ClinGen ExAC gnomAD
CA164857811 rs892933064	139	S>R		No	ClinGen TOPMed
CA368954160 rs1395078943	139	S>R		No	ClinGen gnomAD
rs776628433 CA4443596	143	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1024269408 CA164857840	143	R>H		No	ClinGen gnomAD
CA4443597 rs759833191	145	A>V		No	ClinGen ExAC gnomAD
rs1356090577 CA368954215	147	A>E		No	ClinGen TOPMed
CA368954235 rs1333037418	149	A>P		No	ClinGen gnomAD
rs763432278 CA4443600	149	A>V		No	ClinGen ExAC gnomAD
rs969993949 CA164857886	150	S>C		No	ClinGen Ensembl
CA368954262 rs1345744909	151	V>I		No	ClinGen gnomAD
rs1434905030 CA368954274 COSM1547732	152	L>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368954305 rs1232020642	154	I>V		No	ClinGen gnomAD
CA4443603 CA164857915 rs752085385	155	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA368954373 rs1314949994	159	G>V		No	ClinGen TOPMed
TCGA novel	162	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs980231435 CA164857927	162	S>N		No	ClinGen TOPMed
rs994394768 CA164857940	165	I>M		No	ClinGen TOPMed gnomAD
rs765909671 CA4443604	166	L>V		No	ClinGen ExAC gnomAD
CA4443606 rs754570815	168	T>S		No	ClinGen ExAC gnomAD
rs1451976158 CA368954535	170	G>E		No	ClinGen gnomAD
rs1251846806 CA368954530	170	G>R		No	ClinGen gnomAD
CA4443607 rs778562557	171	P>S		No	ClinGen ExAC TOPMed gnomAD
CA368954567 rs1453574999	173	L>I		No	ClinGen TOPMed gnomAD
rs758156347 CA4443609	175	K>N		No	ClinGen ExAC gnomAD
rs1393243750 CA368954609	176	I>N		No	ClinGen gnomAD
CA368954620 rs1368912974	177	I>N		No	ClinGen gnomAD
rs746947700 CA4443611	177	I>V		No	ClinGen ExAC gnomAD
CA4443612 rs757207686	178	C>S		No	ClinGen ExAC gnomAD
rs140670758 CA164857989	178	C>Y		No	ClinGen ESP
CA4443613 rs143002375	179	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4443614 rs745957278	181	S>T		No	ClinGen ExAC TOPMed
CA4443615 rs770091139	183	S>N		No	ClinGen ExAC TOPMed gnomAD
CA164858002 rs772589743	184	M>L		No	ClinGen Ensembl
CA368954729 rs1258740320	185	Q>K		No	ClinGen gnomAD
rs1261008599 CA368954749	186	A>T		No	ClinGen TOPMed
rs1430525485 CA368954850	190	C>F		No	ClinGen gnomAD
rs1171323325 CA368954855	191	A>S		No	ClinGen gnomAD
rs1372596542 CA368954858	191	A>V		No	ClinGen gnomAD
CA4443651 rs773681445	192	T>A		No	ClinGen ExAC TOPMed gnomAD
rs773681445 CA368954860	192	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1306161535 CA368954868	193	C>F		No	ClinGen gnomAD
CA368954873 rs1206082367	194	F>L		No	ClinGen TOPMed
TCGA novel	195	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368954897 rs1415243429	197	C>F		No	ClinGen gnomAD
rs1312059324 CA368954906	198	C>Y		No	ClinGen gnomAD
CA4443653 rs764711022	200	I>F		No	ClinGen ExAC gnomAD
rs775044131 CA4443654	200	I>M		No	ClinGen ExAC gnomAD
CA368954940 rs1485487805	200	I>T		No	ClinGen TOPMed
rs536863303 CA4443655	201	A>V		No	ClinGen ExAC TOPMed gnomAD
CA164860522 rs779493994	203	D>G		No	ClinGen Ensembl
CA368954981 rs1306456385	204	D>N		No	ClinGen gnomAD
CA368955014 rs1168612613	206	T>A		No	ClinGen TOPMed gnomAD
rs751318627 CA4443657	206	T>I		No	ClinGen ExAC gnomAD
CA368955117 rs778166237	210	S>*		No	ClinGen ExAC gnomAD
rs778166237 CA4443672	210	S>L		No	ClinGen ExAC gnomAD
rs1037364139 CA164860631	210	S>P		No	ClinGen Ensembl
CA249320 RCV000948787 rs79480470 RCV000203116	212	L>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1213100530 CA368955150	213	E>G		No	ClinGen TOPMed
CA368955142 rs1255740672	213	E>Q		No	ClinGen TOPMed
CA4443673 rs771428735	214	C>Y		No	ClinGen ExAC gnomAD
CA164860644 rs993250933	215	L>V		No	ClinGen Ensembl
TCGA novel	217	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453828784 CA368955229	218	I>M		No	ClinGen gnomAD
CA368955225 rs1483579642	218	I>T		No	ClinGen TOPMed
CA4443674 rs774923155	218	I>V		No	ClinGen ExAC gnomAD
CA4443676 COSM169382 rs768313404	222	S>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1260231834 CA368955297	223	Y>C		No	ClinGen TOPMed
CA4443677 rs773842261	223	Y>H		No	ClinGen ExAC gnomAD
rs1159556469 CA368955306	224	L>V		No	ClinGen gnomAD
CA368955357 rs1455328232	227	K>T		No	ClinGen gnomAD
CA4443679 rs761586205	228	D>G		No	ClinGen ExAC gnomAD
rs890309343 CA164860705	229	T>A		No	ClinGen Ensembl
rs1563268655 CA368955388	229	T>N		No	ClinGen Ensembl
TCGA novel	229	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4443680 rs767417437	230	T>A		No	ClinGen ExAC gnomAD
rs1030995103 CA164860718	231	V>A		No	ClinGen TOPMed
TCGA novel	231	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368955403 rs1195575640	232	I>T		No	ClinGen gnomAD
rs530418164 CA4443681	234	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA368955463 rs1354426179	241	H>P		No	ClinGen TOPMed
rs1354426179 CA368955464	241	H>R		No	ClinGen TOPMed
rs1416262591 CA368955480	243	S>N		No	ClinGen TOPMed
CA368955488 rs1346940033	244	S>C		No	ClinGen TOPMed
rs1287818660 CA368955484	244	S>P		No	ClinGen TOPMed
rs1287818660 CA368955483	244	S>T		No	ClinGen TOPMed
rs1346940033 CA368955486	244	S>Y		No	ClinGen TOPMed
CA368955490 rs1215823151	245	L>V		No	ClinGen gnomAD
TCGA novel	248	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368955516 rs1468131448	249	T>A		No	ClinGen gnomAD
rs779101396 CA4443686	253	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752846951 CA4443687	255	C>R		No	ClinGen ExAC gnomAD
rs575419129 CA164860808	257	I>V		No	ClinGen gnomAD
rs758710948 CA4443688	258	N>K		No	ClinGen ExAC gnomAD
CA368955578 rs1424637202	259	E>G		No	ClinGen TOPMed
TCGA novel	263	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368955651 rs1166868507	267	H>R		No	ClinGen TOPMed
rs1313873182 CA368955662	268	F>L		No	ClinGen gnomAD
CA164860962 rs772488118	269	H>L		No	ClinGen Ensembl
rs765225885 CA4443705	271	L>F		No	ClinGen ExAC gnomAD
rs991395397 CA164860984	272	P>L		No	ClinGen Ensembl
CA368955684 rs1242911114	272	P>S		No	ClinGen gnomAD
rs1272105845 CA368955689	273	S>G		No	ClinGen gnomAD
CA164861009 rs778277932	273	S>I		No	ClinGen gnomAD
CA368955691 rs778277932	273	S>N		No	ClinGen gnomAD
CA368955710 rs1380955120	276	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368955720 rs758553704	277	C>W		No	ClinGen ExAC gnomAD
CA368955716 rs1191107867	277	C>Y		No	ClinGen TOPMed
rs1339967186 CA368955726	278	D>G		No	ClinGen gnomAD
CA164861044 rs917816121	279	D>N		No	ClinGen TOPMed gnomAD
CA368955730 rs917816121	279	D>Y		No	ClinGen TOPMed gnomAD
rs1257997615 CA368955743	281	N>D		No	ClinGen gnomAD
CA368955746 rs1248736116	281	N>S		No	ClinGen TOPMed
rs764321257 COSM1547731 CA4443709	282	M>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1243467841 CA368955758	283	R>G		No	ClinGen gnomAD
rs941616258 CA164861053	284	I>T		No	ClinGen TOPMed
CA368955773 rs1475489952	285	A>S		No	ClinGen gnomAD
CA164861079 rs1037249764	287	G>S		No	ClinGen Ensembl
rs370898862 CA4443710	287	G>V		No	ClinGen ESP ExAC gnomAD
rs1387713212 CA368955793	288	E>D		No	ClinGen TOPMed gnomAD
rs757585938 CA4443711	291	A>S		No	ClinGen ExAC
rs781657076 CA4443712	292	L>F		No	ClinGen ExAC gnomAD
rs746358114 CA4443713	293	L>I		No	ClinGen ExAC TOPMed gnomAD
rs746358114 CA368955818	293	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4443714 rs756651871	297	A>T		No	ClinGen ExAC gnomAD
rs1394616214 CA368955850	297	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1218634159 CA368955863	299	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368955858 rs1320584376	299	G>R		No	ClinGen gnomAD
CA4443715 rs778228246	300	I>L		No	ClinGen ExAC gnomAD
CA368955881 rs1356602413	302	S>N		No	ClinGen TOPMed
rs769577724 CA4443746	304	F>I		No	ClinGen ExAC TOPMed gnomAD
rs979653918	306	Y>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233445060 CA368956758	307	E>V		No	ClinGen gnomAD
CA4443747 rs200913560	308	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4443749 rs199958109	310	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs761967828 CA4443751	311	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA164866452 rs1016229504	312	L>M		No	ClinGen TOPMed
CA4443752 rs373824184	313	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	314	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4443754 rs761073324	315	M>L		No	ClinGen ExAC gnomAD
rs1366826223 CA368956820	316	L>P		No	ClinGen TOPMed gnomAD
CA164866489 rs145564103	317	R>T		No	ClinGen ESP
CA164866496 rs1030765204	323	G>R		No	ClinGen TOPMed gnomAD
rs777350451 CA4443758	324	N>S		No	ClinGen ExAC gnomAD
rs751123555 CA4443759	325	K>R		No	ClinGen ExAC gnomAD
CA4443760 rs199704602	326	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA368956888 rs1298095274	327	R>Q		No	ClinGen TOPMed
CA4443761 rs780926014	327	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4443762 rs745545141	329	K>E		No	ClinGen ExAC gnomAD
rs769607345 CA368956908	330	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4443763 rs769607345	330	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1160858835 CA368956912	331	D>G		No	ClinGen TOPMed
rs1252481308 CA368956909	331	D>N		No	ClinGen TOPMed gnomAD
rs1252481308 CA368956911	331	D>Y		No	ClinGen TOPMed gnomAD
CA164866519 COSM1447347 rs910615810	336	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs779881591 CA4443764	336	R>W		No	ClinGen ExAC gnomAD
CA368956976 rs1260083080	340	R>S		No	ClinGen gnomAD
CA164866540 rs976051009	342	V>I		No	ClinGen TOPMed
rs1203216743 CA368957002	344	R>S		No	ClinGen gnomAD
CA164866546 rs958236876	345	A>T		No	ClinGen Ensembl
rs761456509 CA164866558	345	A>V		No	ClinGen Ensembl
rs768595118 CA4443766	346	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM1196406 CA164870346 rs926241278	349	R>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1247513841 CA368957644	349	R>W		No	ClinGen gnomAD
rs780614814 CA4443778	350	D>H		No	ClinGen ExAC gnomAD
CA368957669 rs1414894210 COSM452158	353	T>A	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4443779 rs188279852	353	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368957692 rs1357158996	356	I>N		No	ClinGen gnomAD
TCGA novel	357	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755788400 CA4443780	362	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4443781 rs779767168	362	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775504885 COSM1736434 CA164870364	364	Y>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	366	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368957768 rs1563273012	367	C>Y		No	ClinGen Ensembl
rs749103619 CA4443782	369	V>L		No	ClinGen ExAC gnomAD
rs1563273020 CA368957799	371	K>R		No	ClinGen Ensembl
TCGA novel	372	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434342612 CA368957813	373	T>A		No	ClinGen TOPMed
rs1434342612 CA368957812	373	T>S		No	ClinGen TOPMed
rs1219086671 CA368957822	374	Y>*		No	ClinGen gnomAD
rs778791826 CA4443784	374	Y>C		No	ClinGen ExAC gnomAD
rs778791826 CA368957820	374	Y>S		No	ClinGen ExAC gnomAD
rs1319052465 CA368957854	379	E>Q		No	ClinGen gnomAD
TCGA novel	380	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA164870403 rs150958975	380	V>L		No	ClinGen ESP
rs761649439 CA4443788	384	G>E		No	ClinGen ExAC gnomAD
rs1392610272 CA368957905	386	Q>H		No	ClinGen gnomAD
rs1253630819 CA368957908	387	Y>H		No	ClinGen gnomAD
CA4443805 rs747077385	393	E>A		No	ClinGen ExAC gnomAD
rs1323939253 CA368957964	393	E>K		No	ClinGen gnomAD
CA368957986 TCGA novel rs1584504107 COSM177385	396	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Ensembl
rs771235895 CA368957987	396	R>L		No	ClinGen ExAC TOPMed gnomAD
rs771235895 CA4443806	396	R>Q	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA164870821 rs935981895	399	F>L		No	ClinGen Ensembl
CA4443807 rs776958769	400	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	401	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307825162 CA368958029	403	P>S		No	ClinGen TOPMed gnomAD
rs770267292 CA4443809	404	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1416982894 CA368958045	405	V>E		No	ClinGen TOPMed
CA368958077 rs1284973233	410	A>S		No	ClinGen gnomAD
CA4443810 rs775785195	410	A>V		No	ClinGen ExAC TOPMed gnomAD
rs906002003 CA164870843	411	T>A		No	ClinGen gnomAD
rs144614382 COSM1447348 CA4443812	411	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs760074772 CA4443814	412	L>I		No	ClinGen ExAC gnomAD
rs765923828 CA4443815	412	L>P		No	ClinGen ExAC gnomAD
CA4443816 rs200425886	414	T>M		No	ClinGen TOPMed gnomAD
CA4443819 rs754695378	415	M>T		No	ClinGen ExAC gnomAD
TCGA novel	416	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4443820 rs764950494	416	K>E		No	ClinGen ExAC TOPMed gnomAD
CA4443821 rs369365976	416	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA368958122 rs574598683	417	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs866141731 CA164870933	419	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4443823 rs778656390 COSM1447349	419	R>H	pancreas large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs757387748 CA4443825 COSM1084122	421	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA368958162 rs1436949755	422	R>G		No	ClinGen gnomAD
CA368958651 rs1417822310	424	L>S		No	ClinGen TOPMed
rs751437664 CA4443843	426	N>S		No	ClinGen ExAC TOPMed gnomAD
CA368958698 rs1453844324	427	S>C		No	ClinGen gnomAD
rs1309045147	427	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1377454438 CA368958708	428	A>E		No	ClinGen gnomAD
rs567366274 CA4443844	428	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA368958711 rs1377454438	428	A>V		No	ClinGen gnomAD
rs1373766758 CA368958737	430	F>L		No	ClinGen Ensembl
rs926371388 CA164873784	430	F>V		No	ClinGen TOPMed gnomAD
rs781354249 CA4443845	433	R>*		No	ClinGen ExAC TOPMed gnomAD
rs781354249 CA368958767	433	R>G		No	ClinGen ExAC TOPMed gnomAD
CA368958770 rs1250996142 COSM281862	433	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA368958777 rs1412955616	434	T>A		No	ClinGen gnomAD
TCGA novel	437	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4443847 rs756365038	439	K>R		No	ClinGen ExAC TOPMed gnomAD
CA368958866 rs1388479118	440	C>Y		No	ClinGen TOPMed gnomAD
CA368958876 rs1489566141	441	R>*		No	ClinGen TOPMed
rs182917954 CA4443849	441	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA368958884 rs1330356983	442	D>N		No	ClinGen gnomAD
TCGA novel	443	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	444	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368958932 rs1230781853	445	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368958953 rs1293116696	446	D>V		No	ClinGen gnomAD
TCGA novel	447	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368958972 rs1227333900	448	G>*		No	ClinGen gnomAD
rs748589729 CA4443852	449	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1357800612 CA368959025	451	F>L		No	ClinGen gnomAD
rs1210999808 CA368959033	452	F>Q		No	ClinGen TOPMed gnomAD
rs917570510 CA164873843	452	F>Y		No	ClinGen TOPMed

No associated diseases with O00458

2 regional properties for O00458

Type	Name	Position	InterPro Accession
domain	Interferon-related developmental regulator, C-terminal	392 - 445	IPR006921
domain	Interferon-related developmental regulator, N-terminal	50 - 347	IPR007701

Functions

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

2 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.
sarcoplasm	The cytoplasm of a muscle cell; includes the sarcoplasmic reticulum.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

6 GO annotations of biological process

Name	Definition
muscle cell differentiation	The process in which a relatively unspecialized cell acquires specialized features of a muscle cell.
myoblast fate determination	The cell fate determination process in which a cell becomes capable of differentiating autonomously into a myoblast regardless of its environment; upon determination, the cell fate cannot be reversed. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative regulation of axon extension	Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth.
negative regulation of collateral sprouting	Any process that stops, prevents, or reduces the frequency, rate or extent of collateral sprouting.
skeletal muscle tissue regeneration	The regrowth of skeletal muscle tissue to repair injured or damaged muscle fibers in the postnatal stage.
striated muscle tissue development	The process whose specific outcome is the progression of a striated muscle over time, from its formation to the mature structure. Striated muscle contain fibers that are divided by transverse bands into striations, and cardiac and skeletal muscle are types of striated muscle. Skeletal muscle myoblasts fuse to form myotubes and eventually multinucleated muscle fibers. The fusion of cardiac cells is very rare and can only form binucleate cells.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MPKNKKRNTP	HRGSSAGGGG	SGAAAATAAT	AGGQHRNVQP	FSDEDASIET	MSHCSGYSDP
70	80	90	100	110	120
SSFAEDGPEV	LDEEGTQEDL	EYKLKGLIDL	TLDKSAKTRQ	AALEGIKNAL	ASKMLYEFIL
130	140	150	160	170	180
ERRMTLTDSI	ERCLKKGKSD	EQRAAAALAS	VLCIQLGPGI	ESEEILKTLG	PILKKIICDG
190	200	210	220	230	240
SASMQARQTC	ATCFGVCCFI	ATDDITELYS	TLECLENIFT	KSYLKEKDTT	VICSTPNTVL
250	260	270	280	290	300
HISSLLAWTL	LLTICPINEV	KKKLEMHFHK	LPSLLSCDDV	NMRIAAGESL	ALLFELARGI
310	320	330	340	350	360
ESDFFYEDME	SLTQMLRALA	TDGNKHRAKV	DKRKQRSVFR	DVLRAVEERD	FPTETIKFGP
370	380	390	400	410	420
ERMYIDCWVK	KHTYDTFKEV	LGSGMQYHLQ	SNEFLRNVFE	LGPPVMLDAA	TLKTMKISRF
430	440	450
ERHLYNSAAF	KARTKARSKC	RDKRADVGEF	F