AiPD: Autoinhibited Protein Database

Q99784

Gene name	OLFM1 (NOE1, NOEL1)
Protein name	Noelin
Names	Neuronal olfactomedin-related ER localized protein, Olfactomedin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10439
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

8-177 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

8-177 (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

3 structures for Q99784

Entry ID	Method	Resolution	Chain	Position	Source
4XAT	X-ray	211 A	A	218-485	PDB
6QHJ	X-ray	125 A	A	226-478	PDB
AF-Q99784-F1	Predicted				AlphaFoldDB

251 variants for Q99784

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1323493237 CA375467942	17	M>L		No	ClinGen TOPMed
CA375467994 rs1351241953	23	S>C		No	ClinGen gnomAD
CA5322071 rs573189289	26	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	28	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs911663345 CA201130392	30	V>L		No	ClinGen TOPMed gnomAD
rs1349972587 CA375468036	31	G>S		No	ClinGen gnomAD
CA201130400 rs940406916	33	N>S		No	ClinGen TOPMed
CA375468059 rs1564268584	34	T>S		No	ClinGen Ensembl
TCGA novel	36	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375468077 rs1301193446	37	L>F		No	ClinGen TOPMed
CA375468086 rs1448277877	38	S>L		No	ClinGen TOPMed gnomAD
rs1389428240 CA375468092	39	A>V		No	ClinGen TOPMed
CA375468114 rs1588205461	43	G>E		No	ClinGen Ensembl
CA375468111 rs1588205459	43	G>R		No	ClinGen Ensembl
rs912652136 CA201130408	44	T>A		No	ClinGen Ensembl
CA375468119 rs1437974589	44	T>K		No	ClinGen TOPMed gnomAD
CA375468121 rs1437974589	44	T>M		No	ClinGen TOPMed gnomAD
CA375468126 rs1330109388	45	L>Q		No	ClinGen gnomAD
CA5322072 rs779294637	46	D>V		No	ClinGen ExAC TOPMed gnomAD
CA375468134 rs1244674070	47	R>S		No	ClinGen TOPMed gnomAD
rs1230662560 CA375468155	50	G>C		No	ClinGen TOPMed gnomAD
CA375468156 rs1230662560	50	G>R		No	ClinGen TOPMed gnomAD
CA375468158 rs1192172293	50	G>V		No	ClinGen gnomAD
CA375468186 rs1328254514	53	P>R		No	ClinGen gnomAD
CA5322091 rs374162661	53	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	54	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298224298 CA375468191	54	T>N		No	ClinGen gnomAD
rs755462351 CA5322092	56	P>A		No	ClinGen ExAC TOPMed gnomAD
rs755462351 CA375468203	56	P>S		No	ClinGen ExAC TOPMed gnomAD
CA375468208 rs1223180401	57	E>Q		No	ClinGen TOPMed
TCGA novel	59	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588206906 CA375468230	59	S>R		No	ClinGen Ensembl
CA375468227 rs1432700771	59	S>T		No	ClinGen gnomAD
CA375468251 rs1588206908	62	V>G		No	ClinGen Ensembl
rs1289862284 CA375468268	64	S>R		No	ClinGen TOPMed
rs748511296 CA5322094	69	S>G		No	ClinGen ExAC gnomAD
CA5322096 rs777954904	70	E>D		No	ClinGen ExAC
CA375468305 rs1282340447	70	E>K		No	ClinGen gnomAD
rs970953360 CA201132547	74	I>V		No	ClinGen TOPMed
rs1213733721 CA375468375	77	V>M		No	ClinGen gnomAD
CA375468410 rs1276630517	79	A>T		No	ClinGen TOPMed
rs768610010 CA5322101	87	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5322100 rs745986095	87	R>W		No	ClinGen ExAC TOPMed gnomAD
rs774223057 CA5322102	90	R>C		No	ClinGen ExAC gnomAD
rs868665665 CA201132571	90	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA375468658 rs1475600261	95	R>K		No	ClinGen gnomAD
CA5322103 rs761657727	95	R>S		No	ClinGen ExAC gnomAD
rs541355970 CA5322104	99	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs1588211038 CA375470915	101	V>G		No	ClinGen Ensembl
TCGA novel	102	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322158 rs529551554	106	Q>L		No	ClinGen 1000Genomes ExAC
CA375471036 rs1368600876	108	I>L		No	ClinGen TOPMed gnomAD
CA375471034 rs1368600876	108	I>V		No	ClinGen TOPMed gnomAD
rs751893069 CA5322161	110	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs751893069 CA5322160	110	V>I		No	ClinGen ExAC gnomAD
rs750555263 CA5322163	114	R>Q		No	ClinGen ExAC gnomAD
COSM3382462 rs781465043 CA5322162	114	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5322165 rs779958700	116	Q>L		No	ClinGen ExAC gnomAD
rs989636146 CA201138897	118	D>E		No	ClinGen TOPMed
rs1205344491 CA375471262	122	V>L		No	ClinGen gnomAD
rs1205344491 CA375471259	122	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs866110183 CA201138911	125	M>T		No	ClinGen Ensembl
rs143507204 CA201138920	126	E>G		No	ClinGen ESP
CA5322169 rs372893899	129	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs770687172 CA5322170	130	K>T		No	ClinGen ExAC gnomAD
CA5322171 rs776493913	133	E>K		No	ClinGen ExAC gnomAD
rs952446733 CA201138977	135	K>R		No	ClinGen Ensembl
rs982525998 CA201138984	136	F>L		No	ClinGen gnomAD
rs1253861300 CA375471485	136	F>S		No	ClinGen gnomAD
CA375471577 rs1473869548	141	E>D		No	ClinGen TOPMed
TCGA novel	147	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774844660 CA5322174	149	R>K		No	ClinGen ExAC gnomAD
CA5322175 rs762491914	150	Q>R		No	ClinGen ExAC gnomAD
rs1355718130 CA375471759	152	K>T		No	ClinGen gnomAD
rs367620749 CA201146784	153	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs367620749 CA5322210 COSM1739519	153	A>V	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1470013203 CA375471950	156	A>T		No	ClinGen TOPMed
CA5322212 rs752852516	156	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	161	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	162	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375472020 rs767452180	165	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1224156595 CA375472018	165	I>T		No	ClinGen gnomAD
TCGA novel	165	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201146810 rs938932568	166	P>S		No	ClinGen TOPMed gnomAD
rs371301894 CA5322216	167	V>M		No	ClinGen ESP ExAC gnomAD
rs748875457 CA5322218	170	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	174	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1282177088 CA375472075	174	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1210492878 CA375472079	174	D>V		No	ClinGen Ensembl
CA375472083 rs1222012665	175	A>T		No	ClinGen TOPMed
rs1328390433 CA375472101	177	L>W		No	ClinGen TOPMed
CA5322219 rs768328899	178	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375472113 rs1234869439	179	L>W		No	ClinGen TOPMed
TCGA novel	186	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1022143315 CA201146856	188	L>V		No	ClinGen TOPMed gnomAD
rs184447617 CA5322221	193	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA201146897 rs900573516	194	E>G		No	ClinGen TOPMed
rs1588212664 CA375472270	194	E>K		No	ClinGen Ensembl
TCGA novel	197	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322224 rs773836280	198	E>K		No	ClinGen ExAC gnomAD
rs760934116 CA5322225	199	I>T		No	ClinGen ExAC TOPMed gnomAD
rs574025248 CA201146920	201	A>T		No	ClinGen 1000Genomes
rs953495606 CA201146937	205	D>N		No	ClinGen Ensembl
TCGA novel	209	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201146960 rs997110139	213	N>S		No	ClinGen TOPMed gnomAD
CA5322228 rs759790413	215	E>Q		No	ClinGen ExAC gnomAD
rs375480440 CA201146975	217	R>S		No	ClinGen ESP
CA5322230 rs765575294	219	R>H		No	ClinGen ExAC gnomAD
rs765575294 CA5322229	219	R>P		No	ClinGen ExAC gnomAD
rs1233253582 CA375472666	220	A>S		No	ClinGen gnomAD
CA5322231 rs758573673	220	A>V		No	ClinGen ExAC gnomAD
CA375474630 rs1290827767	228	G>R		No	ClinGen gnomAD
CA375474636 rs1233582591	229	K>Q		No	ClinGen gnomAD
rs1274655533 COSM3699520 CA375474654	231	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA201154127 rs982731091	232	G>D		No	ClinGen gnomAD
CA5322267 rs775726047	235	D>V		No	ClinGen ExAC gnomAD
COSM106595 CA201154136 rs146984036	236	P>L	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA201154144 COSM3395658 rs986989296	237	V>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs753829240 CA5322273	244	S>L		No	ClinGen ExAC gnomAD
rs758017104 CA5322277	247	G>R		No	ClinGen ExAC gnomAD
CA375474769 rs1310976651	249	W>*		No	ClinGen gnomAD
rs1414830060 CA375474796	253	P>A		No	ClinGen gnomAD
TCGA novel	253	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	253	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322280 rs756888103	255	A>S		No	ClinGen ExAC gnomAD
CA5322281 rs780866039	256	P>R		No	ClinGen ExAC gnomAD
rs746313621 CA5322282	258	G>D		No	ClinGen ExAC gnomAD
rs780417215 CA5322284	259	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	260	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749666045 CA5322285	261	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1569373 CA5322307 rs772311640	267	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	270	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747137531 CA5322309	272	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1325605984 COSM394052 CA375478050	272	R>H	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs368339499 CA5322311	274	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1294050748 CA375478068	275	R>C		No	ClinGen TOPMed gnomAD
CA5322312 rs762963863	275	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs763733144 CA5322313	280	M>I		No	ClinGen ExAC
rs1228215031 CA375478102	280	M>V		No	ClinGen gnomAD
CA201162634 rs950220679	281	V>A		No	ClinGen TOPMed
CA5322314 rs774322066	281	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1588226769 CA375478132	284	M>T		No	ClinGen Ensembl
CA5322315 rs761509508	284	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1211592693 CA375478146	286	T>A		No	ClinGen gnomAD
rs372599021 CA201162641	286	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1588226789 CA375478177	290	T>P		No	ClinGen Ensembl
rs1481586898 CA375478189	291	S>A		No	ClinGen gnomAD
CA201162650 rs1040981194	292	H>Y		No	ClinGen TOPMed
CA201162658 rs903444355	293	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1259537651 CA375478232	293	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs903444355 CA375478220	293	R>S		No	ClinGen TOPMed gnomAD
CA5322318 rs755649319	295	P>H		No	ClinGen ExAC gnomAD
CA375478255 rs1170478438	295	P>S		No	ClinGen gnomAD
CA375478264 rs1275507307	296	H>D		No	ClinGen TOPMed
rs1275507307 CA375478266	296	H>N		No	ClinGen TOPMed
rs151273959 CA5322319	296	H>P		No	ClinGen ESP ExAC gnomAD
CA201162667 rs934904631	296	H>Q		No	ClinGen TOPMed
rs754240005 CA5322320	298	W>*		No	ClinGen ExAC gnomAD
TCGA novel	298	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375478336 rs1287679509	300	G>A		No	ClinGen gnomAD
rs375198166 CA5322326	308	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA375478490 rs1335310406	310	I>N		No	ClinGen gnomAD
rs770860862 CA5322327	310	I>V		No	ClinGen ExAC gnomAD
TCGA novel	311	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322328 rs776780657	313	N>T		No	ClinGen ExAC gnomAD
CA201162704 rs901896039	319	I>F		No	ClinGen TOPMed
TCGA novel	322	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375478765 rs1588226875	324	D>A		No	ClinGen Ensembl
CA201162716 rs998645947	325	L>P		No	ClinGen Ensembl
TCGA novel	326	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200625169 CA5322331	328	E>D		No	ClinGen ExAC gnomAD
CA5322332 rs112869405	329	T>A		No	ClinGen ExAC gnomAD
TCGA novel	331	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588226892 CA375478891	333	T>P		No	ClinGen Ensembl
CA5322333 rs771847269	334	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1582795 CA5322334 rs773058353	334	R>H	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1189820496 CA375478954	338	Y>H		No	ClinGen TOPMed
rs759911203 CA5322338	340	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375478997 rs1252810075	344	M>L		No	ClinGen TOPMed
CA375479008 rs1588226913	345	Y>S		No	ClinGen Ensembl
rs1588226922 CA375479016	346	H>P		No	ClinGen Ensembl
TCGA novel	347	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758826325 CA5322341	348	A>S		No	ClinGen ExAC TOPMed
rs751669252 CA201162768	352	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs778127217 CA5322342	352	H>Y		No	ClinGen ExAC gnomAD
CA5322346 rs746009113 COSM1106632	356	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA375479118 rs1222086077	361	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs747944799 CA5322349	363	G>R		No	ClinGen ExAC gnomAD
TCGA novel	365	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA201162793 rs950757823	367	V>M	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA201162795 rs1019419410	369	A>S		No	ClinGen Ensembl
rs1313486839 CA375479184	371	N>D		No	ClinGen gnomAD
rs1039025372 CA201162806	374	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1564283221 CA375479222	376	N>S		No	ClinGen Ensembl
rs1200557132 CA375479228	377	I>V		No	ClinGen gnomAD
rs753259000 CA5322357	379	V>F		No	ClinGen ExAC gnomAD
rs753259000 CA5322358	379	V>I		No	ClinGen ExAC gnomAD
CA375479254 rs764404975	381	R>K		No	ClinGen ExAC gnomAD
CA375479255 rs1588227039	381	R>S		No	ClinGen Ensembl
rs764404975 CA5322359	381	R>T		No	ClinGen ExAC gnomAD
CA375479265 rs1588227044	383	D>A		No	ClinGen Ensembl
rs376631762 CA5322363	385	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs780297390 CA5322365	388	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA201162846 rs866976997	393	W>*		No	ClinGen Ensembl
rs1174360762 CA375479343	395	T>M	Variant assessed as Somatic; 4.632e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	397	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554344210 CA201162848	397	Y>D		No	ClinGen Ensembl
CA5322368 rs777381464	398	P>S		No	ClinGen ExAC gnomAD
rs932606104 CA201162860 COSM1106633	400	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs770455954 CA5322370	400	R>H		No	ClinGen ExAC TOPMed gnomAD
rs770455954 CA5322371	400	R>L		No	ClinGen ExAC TOPMed gnomAD
CA375479389 rs1233540026	403	G>R		No	ClinGen TOPMed gnomAD
CA201162885 rs200726859	405	A>T		No	ClinGen Ensembl
rs764638062 CA5322376	407	I>V		No	ClinGen ExAC gnomAD
rs762305455 CA5322378	410	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5322379 rs767622547 COSM273667	411	T>M	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs766525119 CA5322382 COSM1460960	414	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1322938084 CA375479475	416	N>S		No	ClinGen TOPMed
CA5322384 rs116667741	417	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA375479529 rs1588227160	424	V>G		No	ClinGen Ensembl
CA375479535 rs1398067200	425	H>L		No	ClinGen gnomAD
rs757129566 CA5322387	436	E>K		No	ClinGen ExAC gnomAD
CA375479669 rs1564283418	438	I>V		No	ClinGen Ensembl
CA201162941 rs895515163	439	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1244994022 CA375479765	443	Q>H		No	ClinGen TOPMed
TCGA novel	444	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375479795 rs1323024457	445	K>R		No	ClinGen TOPMed
CA375479927 rs1334681767	455	N>S		No	ClinGen gnomAD
rs1210756281 CA375479938	457	K>E		No	ClinGen gnomAD
CA375479951 rs1588227221	458	D>A		No	ClinGen Ensembl
CA375479957 rs1292653336	458	D>E		No	ClinGen TOPMed gnomAD
rs1192593825 CA375479967	459	R>Q		No	ClinGen gnomAD
rs374433425 CA201162955	459	R>W		No	ClinGen ESP gnomAD
rs867925859 CA201162959	460	A>V		No	ClinGen Ensembl
CA375480016 rs1478826008	462	Y>C		No	ClinGen gnomAD
rs1044616599 CA201162966	463	A>G		No	ClinGen gnomAD
TCGA novel	467	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322391 COSM1460962 rs774962345	467	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA375480148 rs1460741584	470	I>V		No	ClinGen gnomAD
CA5322392 rs748840969	473	N>D		No	ClinGen ExAC gnomAD
CA375480215 rs1588227260	475	T>P		No	ClinGen Ensembl
TCGA novel	479	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5322395 rs762241069	479	V>I		No	ClinGen ExAC TOPMed gnomAD
CA375480297 rs1401300491 COSM1165591	481	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs115852241 CA5322396	481	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115852241 CA375480301	481	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA375480324 rs1443994928	483	D>E		No	ClinGen TOPMed
COSM313451 CA5322398 rs145931591	483	D>N	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA375480336 rs753937352	484	E>D		No	ClinGen ExAC TOPMed gnomAD
rs766756086 CA5322399	484	E>K		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q99784

1 regional properties for Q99784

Type	Name	Position	InterPro Accession
domain	Olfactomedin-like domain	230 - 489	IPR003112

Functions

		Description
EC Number
Subcellular Localization	Secreted Synapse Endoplasmic reticulum Cell projection, axon Perikaryon
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
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.
axonal growth cone	The migrating motile tip of a growing nerve cell axon.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
extracellular space	That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.
neuronal cell body	The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites.
perikaryon	The portion of the cell soma (neuronal cell body) that excludes the nucleus.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

10 GO annotations of biological process

Name	Definition
atrioventricular valve formation	The developmental process pertaining to the initial formation of the atrioventricular valve from unspecified parts. This process begins with the specific processes that contribute to the appearance of the discrete structure and ends when the structural rudiment is recognizable.
cardiac epithelial to mesenchymal transition	A transition where a cardiac epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
negative regulation of gene expression	Any process that decreases 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).
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuronal signal transduction	The process in which an activated neuronal cell receptor conveys information down a signaling pathway, resulting in a change in the function or state of a cell. This process may be intracellular or intercellular.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of epithelial to mesenchymal transition	Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell.
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).
regulation of axon extension	Any process that modulates the rate, direction or extent of axon extension.
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.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q594P2	MYOC	Myocilin	Felis catus (Cat) (Felis silvestris catus)	PR
Q25C36	OLFML3	Olfactomedin-like protein 3	Gallus gallus (Chicken)	PR
Q9IAK4	OLFM1	Noelin	Gallus gallus (Chicken)	PR
Q99972	MYOC	Myocilin	Homo sapiens (Human)	PR
Q80TR1	Adgrl1	Adhesion G protein-coupled receptor L1	Mus musculus (Mouse)	PR
O88998	Olfm1	Noelin	Mus musculus (Mouse)	PR
Q62609	Olfm1	Noelin	Rattus norvegicus (Rat)	PR
A4IIT5	olfml2a	Olfactomedin-like protein 2A	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MSVPLLKIGV	VLSTMAMITN	WMSQTLPSLV	GLNTTKLSAA	GGGTLDRSTG	VLPTNPEESW
70	80	90	100	110	120
QVYSSAQDSE	GRCICTVVAP	QQTMCSRDAR	TKQLRQLLEK	VQNMSQSIEV	LDRRTQRDLQ
130	140	150	160	170	180
YVEKMENQMK	GLESKFKQVE	ESHKQHLARQ	FKAIKAKMDE	LRPLIPVLEE	YKADAKLVLQ
190	200	210	220	230	240
FKEEVQNLTS	VLNELQEEIG	AYDYDELQSR	VSNLEERLRA	CMQKLACGKL	TGISDPVTVK
250	260	270	280	290	300
TSGSRFGSWM	TDPLAPEGDN	RVWYMDGYHN	NRFVREYKSM	VDFMNTDNFT	SHRLPHPWSG
310	320	330	340	350	360
TGQVVYNGSI	YFNKFQSHII	IRFDLKTETI	LKTRSLDYAG	YNNMYHYAWG	GHSDIDLMVD
370	380	390	400	410	420
ESGLWAVYAT	NQNAGNIVVS	RLDPVSLQTL	QTWNTSYPKR	SAGEAFIICG	TLYVTNGYSG
430	440	450	460	470	480
GTKVHYAYQT	NASTYEYIDI	PFQNKYSHIS	MLDYNPKDRA	LYAWNNGHQI	LYNVTLFHVI

RSDEL