AiPD: Autoinhibited Protein Database

O00241

Gene name	SIRPB1
Protein name	Signal-regulatory protein beta-1
Names
Species	Homo sapiens (Human)
KEGG Pathway
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-73 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-73 (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 O00241

Entry ID	Method	Resolution	Chain	Position	Source
2D9C	NMR	-	A	32-154	PDB
2JJU	X-ray	119 A	A/B	30-148	PDB
AF-O00241-F1	Predicted				AlphaFoldDB

425 variants for O00241

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA310786208 rs964283861	2	P>H		No	ClinGen Ensembl
rs1460926203 CA407998390	2	P>S		No	ClinGen gnomAD
CA407998384 rs1254306601	3	V>A		No	ClinGen TOPMed
rs770208809 CA407998387	3	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9729275 rs770208809	3	V>M		No	ClinGen ExAC TOPMed gnomAD
CA407998378 rs1416019007	4	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs745345493 CA9729273	4	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	5	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407998366 rs1475554165	6	S>F		No	ClinGen gnomAD
CA9729270 rs370764725	7	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA9729271 rs145936087	7	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407998360 rs370764725	7	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs933141356 CA310786195	7	W>R		No	ClinGen TOPMed
rs777468324 CA9729269	9	H>L		No	ClinGen ExAC gnomAD
rs1252853179 CA407998353	9	H>N		No	ClinGen gnomAD
CA407998351 rs1252853179	9	H>Y		No	ClinGen gnomAD
CA407998344 rs1333680174	10	L>F		No	ClinGen gnomAD
CA407998342 rs1202235871	10	L>P		No	ClinGen TOPMed
CA407998336 rs1234769927	11	P>R		No	ClinGen gnomAD
rs758172589 CA9729268	11	P>S		No	ClinGen ExAC gnomAD
rs954372092 CA310786183	12	S>R		No	ClinGen Ensembl
rs1340483504 CA407998298	17	M>I		No	ClinGen gnomAD
CA9729267 rs752498686	18	T>M		No	ClinGen ExAC gnomAD
rs976821695 CA310786176	18	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA407998277 rs1600178584	21	L>R		No	ClinGen Ensembl
rs892263939 CA310786165	22	G>E		No	ClinGen Ensembl
CA9729264 rs753864698	22	G>R		No	ClinGen ExAC TOPMed gnomAD
rs753864698 CA407998276	22	G>W		No	ClinGen ExAC TOPMed gnomAD
VAR_056077 CA9729263 VAR_028789 rs1535882	23	R>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs865983979 CA310786159	23	R>I		No	ClinGen TOPMed gnomAD
rs865983979 CA407998271	23	R>K		No	ClinGen TOPMed gnomAD
rs865983979 CA310786160	23	R>T		No	ClinGen TOPMed gnomAD
rs958498208 CA310786158	24	L>P		No	ClinGen TOPMed gnomAD
CA9729262 rs762023574	25	T>I		No	ClinGen ExAC gnomAD
TCGA novel	25	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407995306 rs1486185717	26	G>E		No	ClinGen gnomAD
CA407998258 rs1406614124	26	G>R		No	ClinGen TOPMed
CA407995290 rs1568691896	28	A>T		No	ClinGen Ensembl
CA9728990 rs768487509	30	E>G		No	ClinGen ExAC gnomAD
CA407995271 rs1600123118	30	E>K		No	ClinGen Ensembl
CA9728986 rs73893765 CA9728987	31	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9728988 rs780072346	31	D>G		No	ClinGen ExAC
rs749112810 CA407995257	31	D>N		No	ClinGen ExAC gnomAD
rs749112810 CA9728989	31	D>Y		No	ClinGen ExAC gnomAD
CA9728981 rs758444009	32	E>D		No	ClinGen ExAC
CA9728983 rs369732461	32	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA9728982 rs369732461	32	E>Q		No	ClinGen ESP TOPMed gnomAD
CA9728980 rs141367120	33	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755277076 CA9728978	34	Q>R		No	ClinGen ExAC gnomAD
rs754204402 CA9728977	35	V>G		No	ClinGen ExAC gnomAD
CA9728974 rs148239911	38	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9728972 rs202017659	39	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA310813699 rs998917079	42	V>A		No	ClinGen TOPMed gnomAD
rs750935859 CA9728969	42	V>I		No	ClinGen ExAC TOPMed gnomAD
CA407995138 rs750935859	42	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	43	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761288540 CA9728967	46	A>S		No	ClinGen ExAC TOPMed gnomAD
CA407995079 rs1190475066	47	G>V		No	ClinGen gnomAD
rs1211568337 CA407995067	48	E>D		No	ClinGen TOPMed
rs774000840 CA9728966	48	E>K		No	ClinGen ExAC gnomAD
CA9728965 rs200657161	49	S>W		No	ClinGen 1000Genomes ExAC
rs1243541997 CA407995051	50	A>D		No	ClinGen gnomAD
TCGA novel	50	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407995048 rs1243541997	50	A>V		No	ClinGen gnomAD
CA310813684 rs903177742	51	T>N		No	ClinGen TOPMed
rs143134459 CA9728963	53	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_028790 rs2746603 CA9728962	53	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1227577435 CA407995011	54	C>F		No	ClinGen gnomAD
CA407995017 rs1568691450	54	C>R		No	ClinGen Ensembl
rs1568691420 CA407995006	55	A>T		No	ClinGen Ensembl
rs1568691408 CA407994997	56	M>V		No	ClinGen Ensembl
CA407994975 rs1320613672	57	T>M		No	ClinGen TOPMed gnomAD
CA407994976 rs1320613672	57	T>R		No	ClinGen TOPMed gnomAD
CA9728958 rs149154234	59	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs754747754	61	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9728957 rs779121951	61	P>T		No	ClinGen ExAC gnomAD
CA9728954 rs749605641	62	V>A		No	ClinGen ExAC gnomAD
CA9728955 rs41275424	62	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407994884 rs1345451843	66	M>I		No	ClinGen TOPMed
rs767925870 CA9728951	66	M>K		No	ClinGen ExAC TOPMed gnomAD
CA9728952 rs756538111	66	M>L		No	ClinGen ExAC gnomAD
rs767925870 CA9728950	66	M>T		No	ClinGen ExAC TOPMed gnomAD
CA310813577 rs572610984	67	W>*		No	ClinGen 1000Genomes
rs751066030 CA407994854	69	R>K		No	ClinGen ExAC TOPMed gnomAD
rs751066030 CA9728948	69	R>T		No	ClinGen ExAC TOPMed gnomAD
CA310813570 rs188677591	70	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA407994846 rs188677591	70	G>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA407994842 rs545413218	71	A>G		No	ClinGen 1000Genomes TOPMed
CA310813563 rs545413218	71	A>V		No	ClinGen 1000Genomes TOPMed
CA9728946 COSM443471 rs762669905	72	G>A	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA407994837 rs762669905	72	G>E		No	ClinGen ExAC TOPMed gnomAD
CA9728944 rs556486434	73	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA9728945 rs577976401	73	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776573667 CA407994825	75	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770777016 CA9728941	75	R>Q		No	ClinGen ExAC gnomAD
rs776573667 CA9728942	75	R>W		No	ClinGen ExAC TOPMed gnomAD
rs145222149 CA9728939	78	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	79	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	80	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749507849 CA9728937	81	Q>*		No	ClinGen ExAC gnomAD
rs770087762 CA9728935	82	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA407994733 rs752160879	88	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9728931 rs752160879	88	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs62641724 CA9728932	88	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568690989 CA407994728	89	V>A		No	ClinGen Ensembl
rs1159818687 CA407994716	91	T>S		No	ClinGen TOPMed
CA9728929 rs145689140	94	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9728928 rs752382484	95	L>F		No	ClinGen ExAC TOPMed gnomAD
CA9728927 rs764992069	95	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9728926 rs149843859	97	K>E		No	ClinGen ESP ExAC gnomAD
rs1356228983 CA407994683	97	K>T		No	ClinGen TOPMed gnomAD
CA9728925 rs753604140	98	R>G		No	ClinGen ExAC gnomAD
CA9728923 rs200982131	99	N>D		No	ClinGen ExAC TOPMed gnomAD
CA9728922 rs199879640	99	N>K		No	ClinGen ExAC TOPMed gnomAD
rs773200973 CA9728921	100	N>K		No	ClinGen ExAC gnomAD
rs111353945 CA9728920	101	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA407994656 rs1273019015	101	L>Q		No	ClinGen Ensembl
CA9728918 rs151078815	103	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139990571 CA9728919	103	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs183947378 CA310813434	104	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs41275422 CA9728916	106	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs41275422 CA407994629	106	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263301566 CA407994628	106	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs41275422 CA9728915 COSM323339	106	S>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1386871512 CA407994621	107	I>L		No	ClinGen gnomAD
rs41290373 CA9728914	108	S>G		No	ClinGen ExAC TOPMed gnomAD
rs973767331 CA310813410	109	N>K		No	ClinGen TOPMed
rs1485669167 CA407994605	109	N>S		No	ClinGen gnomAD
CA9728912 rs747509420	111	T>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	113	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201259964 CA407994569	115	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs201259964 CA9728910 COSM1565897	115	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs778666465 CA9728908	116	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754608272 CA9728907	116	G>V		No	ClinGen ExAC gnomAD
CA407994544 rs1163980125	119	Y>C		No	ClinGen TOPMed
CA9728905 rs766084038	120	C>R		No	ClinGen ExAC gnomAD
rs760576567 CA9728903	122	K>T		No	ClinGen ExAC gnomAD
rs145977289 CA9728901 COSM443469	124	R>Q	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs139862493 CA9728902	124	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs867896668 CA310813381	126	G>E		No	ClinGen Ensembl
CA407994498 rs1409287633	126	G>W		No	ClinGen TOPMed
rs1286484553 CA407994492	127	S>N		No	ClinGen TOPMed
CA407994489 rs1278965417	127	S>R		No	ClinGen gnomAD
rs201140189 CA9728897	129	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9728895 rs572529769	130	D>H		No	ClinGen ExAC TOPMed gnomAD
CA310813379 rs572529769	130	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200329163 CA9728892	131	V>A		No	ClinGen ExAC gnomAD
CA9728893 rs78299606	131	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9728894 rs78299606	131	V>M		No	ClinGen ExAC TOPMed gnomAD
CA407994458 rs1470050027	132	E>D		No	ClinGen gnomAD
CA407994456 rs1422282872	133	F>I		No	ClinGen gnomAD
rs1167967711 CA407994434	136	G>R		No	ClinGen gnomAD
rs747611360 CA9728891	137	A>G		No	ClinGen ExAC TOPMed gnomAD
CA407994428 rs1600121057	137	A>T		No	ClinGen Ensembl
CA407994420 rs1374087206	138	G>D		No	ClinGen gnomAD
rs754555955 CA9728889	140	E>G		No	ClinGen ExAC TOPMed gnomAD
rs200840558	144	R>=	Variant assessed as Somatic; 4.861e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA9728886 COSM1024683 rs368470461	144	R>C	Variant assessed as Somatic; 0.0004861 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs368470461 CA9728887	144	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9728884 rs201638914	144	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201638914 CA9728885	144	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190059603 CA9728882	145	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407994280 rs1196910449	147	P>H		No	ClinGen TOPMed gnomAD
rs1196910449 CA407994276	147	P>L		No	ClinGen TOPMed gnomAD
rs780877297 CA9728849	149	A>D		No	ClinGen ExAC TOPMed gnomAD
COSM1265638 CA9728848 rs770651838	150	P>S	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA407994247 rs1008776803	151	V>L		No	ClinGen TOPMed gnomAD
rs1008776803 CA9728845 COSM477841	151	V>M	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1568685204 CA407994232	152	V>A		No	ClinGen Ensembl
CA407994235 rs1281956086	152	V>I		No	ClinGen gnomAD
rs150061145 CA9728844	153	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139432093 CA9728840	154	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA407994218 rs1273906051	154	G>S		No	ClinGen gnomAD
rs139432093 CA9728841	154	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373681327 CA407994196	156	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9728837 rs373681327 COSM477840	156	A>V	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA310811000 rs386811628	157	V>A		No	ClinGen Ensembl
rs150138053 CA9728835	157	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1407714090 CA407994190	157	V>L		No	ClinGen gnomAD
CA407994180 rs763488435	158	R>W		No	ClinGen ExAC TOPMed gnomAD
CA407994160 rs1209779251	160	T>A		No	ClinGen TOPMed
CA407994153 rs1251619980	160	T>I		No	ClinGen TOPMed
TCGA novel	161	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9728832 rs559780117	162	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs559780117 CA9728831	162	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA9728829 rs776196105	164	T>I		No	ClinGen ExAC gnomAD
rs113675259 CA310810960	165	V>A		No	ClinGen Ensembl
rs541639858 CA9728828	166	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9728827 rs577389972	168	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs577389972 CA407994073	168	T>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel CA407994061 rs369780504	169	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA ESP ExAC TOPMed gnomAD
CA9728826 rs369780504	169	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9728823 rs543944594	170	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9728824 rs186440949	170	E>K	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1277397731 CA407994025	173	G>S		No	ClinGen gnomAD
CA9728820 rs61733947	176	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9728817 rs200471530	177	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9728818 rs200471530	177	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360550985 CA407993965	179	I>V		No	ClinGen gnomAD
CA9728815 rs141668681	180	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407993925 rs1358949471	182	K>N		No	ClinGen gnomAD
CA407993921 rs1377404272	183	W>R		No	ClinGen gnomAD
rs765734860 CA9728814	185	K>R		No	ClinGen ExAC gnomAD
rs147864161 CA9728813	188	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776138135 CA9728812	192	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1477440198 CA407993804	193	F>L		No	ClinGen TOPMed gnomAD
CA9728811 rs765921441	194	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1376252227 CA407993781	195	T>N		No	ClinGen TOPMed
CA9728810 rs371319948	196	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568684823 CA407993769	196	N>S		No	ClinGen Ensembl
CA9728808 rs140374707 COSM1225789	197	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1600104620 CA407993747	198	D>A		No	ClinGen Ensembl
CA9728807 rs747900541	198	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA407993737 rs1244465375	199	P>S		No	ClinGen TOPMed
CA407993727 rs145431656	200	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs145431656 CA9728805	200	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA407993717 rs1263196695	201	G>*		No	ClinGen gnomAD
rs1421868708 CA407993716	201	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA407993696 rs1381342860	202	D>E		No	ClinGen TOPMed gnomAD
rs781392939 CA9728803	202	D>H		No	ClinGen ExAC gnomAD
CA407993686 rs1298286595	203	S>C		No	ClinGen gnomAD
rs1256940906 CA407993683	203	S>N		No	ClinGen TOPMed
rs777875547 CA407993595	209	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs549516216 CA9728798	210	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9728797 rs753089123	212	A>V		No	ClinGen ExAC gnomAD
rs1464071730 CA407993542	213	R>K		No	ClinGen gnomAD
CA407993544 rs1464071730	213	R>M		No	ClinGen gnomAD
CA9728795 rs755452898	214	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA407993497 rs765907722	217	T>I		No	ClinGen ExAC gnomAD
CA9728793 rs765907722	217	T>N		No	ClinGen ExAC gnomAD
rs1446248556 CA407993501	217	T>S		No	ClinGen TOPMed gnomAD
CA9728792 rs760160511	218	R>C		No	ClinGen ExAC TOPMed gnomAD
rs61731659 CA9728791	218	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA310810686 rs61731659	218	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758791555 CA310810685	220	D>N		No	ClinGen Ensembl
CA9728789 COSM178200 rs761652721	221	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs146852997 CA407993434	222	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA407993403 rs1403228916	224	Q>*		No	ClinGen TOPMed
CA407993381 rs1291885057	225	V>A		No	ClinGen TOPMed
CA407993390 rs1395645734	225	V>L		No	ClinGen TOPMed
CA9728787 rs768614865	228	E>K		No	ClinGen ExAC TOPMed gnomAD
VAR_028791 rs2253427 CA9728785	229	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA407993315 rs1211670702	229	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs386811627 CA310810674	229	I>V		No	ClinGen Ensembl
CA9728786 rs144028465	229	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770989983 CA9728784	231	H>Y		No	ClinGen ExAC gnomAD
CA407993260 rs1265072088	232	I>N		No	ClinGen TOPMed
CA9728782 rs150708972	232	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386811626 CA310810650	232	I>V		No	ClinGen Ensembl
rs758569172 CA9728781	233	T>I		No	ClinGen ExAC gnomAD
rs779215387 CA9728779	234	L>F		No	ClinGen ExAC gnomAD
TCGA novel	235	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369061568 CA9728777	236	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1434803468 CA407993177	238	P>T		No	ClinGen TOPMed
rs142083473 COSM263665 CA9728776	240	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs766810178 COSM3404942 COSM3404943 CA9728775	240	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA310810622 rs895241919	241	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs749922767 CA9728774	241	G>R		No	ClinGen ExAC gnomAD
rs749922767 CA9728773	241	G>W		No	ClinGen ExAC gnomAD
rs1056581243 CA407993112	243	A>S		No	ClinGen TOPMed gnomAD
CA310810605 rs1056581243	243	A>T		No	ClinGen TOPMed gnomAD
rs565483001 CA9728770	243	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1319005615 CA407993090	244	N>K		No	ClinGen gnomAD
CA407993049 rs1386244058	247	E>K		No	ClinGen gnomAD
TCGA novel	248	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753360288 CA310810575	249	I>L		No	ClinGen gnomAD
rs753360288 CA407993015	249	I>V		No	ClinGen gnomAD
CA9728769 rs148690008	250	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9728767 rs144175019	250	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA407992984 rs1048439475	251	V>I		No	ClinGen TOPMed
rs1048439475 CA9728765	251	V>L		No	ClinGen TOPMed
TCGA novel	252	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407992919 rs1269453880	252	P>L		No	ClinGen TOPMed gnomAD
rs1225230444 CA407992911	253	P>A		No	ClinGen gnomAD
CA407992906 rs1327979803	253	P>L		No	ClinGen TOPMed gnomAD
rs1225230444 CA407992913	253	P>T		No	ClinGen gnomAD
rs774490104 CA9728739	255	L>W		No	ClinGen ExAC TOPMed gnomAD
rs768887680 CA9728738	256	E>D		No	ClinGen ExAC gnomAD
CA407992867 rs1213616254	257	V>I		No	ClinGen TOPMed
rs749573481 CA9728737	259	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1395164358 CA407992846	259	Q>P		No	ClinGen gnomAD
CA407992836 rs1458673655	260	Q>*		No	ClinGen TOPMed
TCGA novel	260	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166647380 CA407992820	261	P>R		No	ClinGen gnomAD
rs1373964944 CA407992805	262	M>I		No	ClinGen gnomAD
CA407992809 rs780249101	262	M>R		No	ClinGen ExAC TOPMed gnomAD
CA9728736 rs780249101	262	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1568683538 CA407992782	264	A>V		No	ClinGen Ensembl
CA407992761 rs1183413232	266	N>S		No	ClinGen gnomAD
rs982649266 CA310810033	268	A>V		No	ClinGen TOPMed gnomAD
rs770258540 CA9728734	269	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9728732 rs781727801	270	V>I		No	ClinGen ExAC TOPMed gnomAD
CA9728730 rs751141937	272	C>Y		No	ClinGen ExAC gnomAD
rs1600101614 CA407992664	274	V>E		No	ClinGen Ensembl
CA407992642 rs1316645524	276	N>S		No	ClinGen gnomAD
rs1452989200 CA407992635	277	F>I		No	ClinGen gnomAD
COSM3740016 CA407992613 rs764939384 COSM3740017 CA407992611	278	Y>*	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9728724 rs753662098	279	P>L		No	ClinGen ExAC TOPMed gnomAD
CA9728725 rs754862434	279	P>S		No	ClinGen ExAC TOPMed gnomAD
CA407992597 rs1336637312	280	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs761841404 CA9728722	280	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA310809880 rs779095619	282	L>P		No	ClinGen TOPMed gnomAD
CA9728719 rs764198429	283	Q>*		No	ClinGen ExAC gnomAD
CA407992567 rs1568683332	283	Q>H		No	ClinGen Ensembl
TCGA novel	284	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9728717 rs550434293	285	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA407992554 rs1334088009	285	T>P		No	ClinGen gnomAD
CA9728715 rs531923164	286	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531923164 CA9728716	286	W>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1252365987 CA407992518	288	E>A		No	ClinGen gnomAD
rs201191774 CA310809858	292	V>A		No	ClinGen 1000Genomes
TCGA novel	293	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	293	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9728711 rs202077981	294	R>Q		No	ClinGen ExAC gnomAD
CA9728712 rs143614046 COSM1326883	294	R>W	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA9728710 rs757996346	295	T>I		No	ClinGen ExAC gnomAD
CA407992461 rs757996346	295	T>K		No	ClinGen ExAC gnomAD
CA310809837 rs201825861	296	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA407992449 rs1277428794	297	T>I		No	ClinGen gnomAD
CA9728709 COSM178198 rs747745133	299	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs754663358 CA9728707	300	T>A		No	ClinGen ExAC gnomAD
CA407992419 rs1403713010	300	T>I		No	ClinGen TOPMed gnomAD
CA407992414 rs1367817884	301	L>F		No	ClinGen gnomAD
rs753698139 CA407992400	302	I>R		No	ClinGen ExAC gnomAD
rs753698139 CA9728706	302	I>T		No	ClinGen ExAC gnomAD
CA9728704 rs756012992	303	E>D		No	ClinGen ExAC gnomAD
CA9728705 rs372469385	303	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372469385 CA310809806	303	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs147405398 CA9728702	305	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775505406 CA9728700	306	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1425736099 CA407992344	307	G>D		No	ClinGen TOPMed
CA9728699 rs374159183	307	G>S		No	ClinGen ExAC gnomAD
CA310809745 rs1042821024	308	T>A		No	ClinGen TOPMed gnomAD
rs1221967038 CA407992335	308	T>I		No	ClinGen gnomAD
CA407992321 rs1171289571	309	Y>F		No	ClinGen TOPMed
rs759765765 CA9728698	310	N>H		No	ClinGen ExAC gnomAD
CA407992311 rs1281614088	310	N>S		No	ClinGen gnomAD
CA9728697 rs777118023	311	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1372577703 CA407992293	311	W>C		No	ClinGen TOPMed
rs771466776 CA9728695	312	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1222202516 CA407992257	314	W>*		No	ClinGen gnomAD
rs1347891990 COSM76433 CA407992249	315	L>F	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	317	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747517350 CA9728694	318	N>D		No	ClinGen ExAC gnomAD
CA9728693 rs773917036	318	N>S		No	ClinGen ExAC gnomAD
TCGA novel	319	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9728692 rs527735821	319	T>P		No	ClinGen 1000Genomes ExAC gnomAD
CA9728691 rs527735821	319	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA9728690 rs778391352	320	C>Y		No	ClinGen ExAC gnomAD
CA9728689 rs754682510	321	A>D		No	ClinGen ExAC gnomAD
rs754682510 CA407992190	321	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs41297640 CA9728687	324	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9728688 rs748979806	324	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1720426 CA407992154 rs750300863	325	D>N	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1265637 rs750300863 CA9728685	325	D>Y	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs545374994 CA9728684	326	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752841400 CA9728682	327	V>A		No	ClinGen ExAC gnomAD
TCGA novel	328	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9728681 rs765277439	328	L>P		No	ClinGen ExAC TOPMed gnomAD
CA9728679 rs754183500	331	Q>*		No	ClinGen ExAC gnomAD
CA407992095 rs754183500	331	Q>E		No	ClinGen ExAC gnomAD
CA407992079 rs1305199016	333	E>Q		No	ClinGen TOPMed
CA9728676 rs773790540	336	G>E		No	ClinGen ExAC TOPMed gnomAD
rs772665895 CA9728675	337	Q>L		No	ClinGen ExAC gnomAD
rs1470956756 CA407992013	338	Q>P		No	ClinGen gnomAD
CA9728674 rs761180179	339	A>T		No	ClinGen ExAC gnomAD
rs773879618 CA9728673	340	V>L		No	ClinGen ExAC gnomAD
rs1409371584 CA407991955	343	S>I		No	ClinGen gnomAD
rs748924553 CA9728671	344	Y>C		No	ClinGen ExAC gnomAD
CA9728672 rs768117833	344	Y>H		No	ClinGen ExAC gnomAD
CA407991923 rs1181388484	346	L>P		No	ClinGen gnomAD
TCGA novel	347	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA310809609 rs141972559 COSM315200	350	A>E	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9728669 rs141972559	350	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780937986 CA9728667	353	K>T		No	ClinGen ExAC gnomAD
CA407991835 rs1229542050	354	E>D		No	ClinGen gnomAD
rs757192782 CA9728666	354	E>K		No	ClinGen ExAC gnomAD
CA407991817 rs779050256	356	G>C		No	ClinGen ExAC gnomAD
CA9728664 COSM1410466 rs779050256	356	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs951246069 CA310809574	358	D>G		No	ClinGen TOPMed
CA407991764 rs1195768931	361	H>D		No	ClinGen TOPMed
CA407991599 rs1490340801	362	E>G		No	ClinGen gnomAD
rs754058730 CA9728662	362	E>Q		No	ClinGen ExAC gnomAD
CA9728641 VAR_028792 rs2243603	363	A>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA9728640 rs148162147	364	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1188240197 CA407991583	365	L>Q		No	ClinGen TOPMed
CA407991570 rs1237233108	366	A>V		No	ClinGen gnomAD
CA407991554 rs1318812694	368	T>A		No	ClinGen gnomAD
rs267605843 CA310806695	370	P>S		No	ClinGen Ensembl
CA9728638 rs140560100	371	L>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762397944 CA9728634	373	V>I		No	ClinGen ExAC TOPMed gnomAD
COSM723597 rs762397944 CA9728635	373	V>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA407991122 rs1391199739	374	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1451260687 CA407991113	375	L>F		No	ClinGen gnomAD
rs267605842 CA310804206	376	L>R		No	ClinGen Ensembl
TCGA novel	377	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407991088 rs1159319736	378	G>A		No	ClinGen gnomAD
rs549401753 CA9728631	378	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9728630 rs549401753	378	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770704173 CA9728629	379	P>H		No	ClinGen ExAC gnomAD
TCGA novel	379	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	380	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407991067 rs1202244828	380	K>R		No	ClinGen gnomAD
CA310804162 rs376340612	381	L>M		No	ClinGen ESP TOPMed gnomAD
rs1363188901 CA407991056	381	L>R		No	ClinGen TOPMed
CA9728626 rs370255651	382	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA407991046 rs1487002110	383	L>M		No	ClinGen TOPMed gnomAD
rs1359141517 CA407991034	384	V>A		No	ClinGen gnomAD
CA407991038 rs1203069132	384	V>M		No	ClinGen gnomAD
rs780252335 CA9728623	385	V>I		No	ClinGen ExAC gnomAD
TCGA novel	385	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA407991025 rs1235395847	386	G>C		No	ClinGen gnomAD
rs1235395847 CA407991027	386	G>S		No	ClinGen gnomAD
rs531223992 CA310804156	387	V>A		No	ClinGen 1000Genomes
rs1242633451 CA407991001	390	I>T		No	ClinGen TOPMed
rs377447664 CA9728622	390	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA310804148 rs960309328	392	I>F		No	ClinGen gnomAD
CA407990990 rs960309328	392	I>L		No	ClinGen gnomAD
CA407990989 rs960309328	392	I>V		No	ClinGen gnomAD
CA310804135 rs267605841	394	W>*		No	ClinGen Ensembl
rs927597789 CA407990930	398	A>S		No	ClinGen gnomAD
rs927597789 COSM1410464 CA310804130	398	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs62623705 CA9728620	398	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA407990925 rs1186060137	399	A>R		No	ClinGen TOPMed
CA9728619 rs111403092	399	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

No associated diseases with O00241

8 regional properties for O00241

Type	Name	Position	InterPro Accession
domain	Immunoglobulin C1-set	162 - 237	IPR003597-1
domain	Immunoglobulin C1-set	263 - 340	IPR003597-2
domain	Immunoglobulin subtype	39 - 144	IPR003599-1
domain	Immunoglobulin subtype	257 - 349	IPR003599-2
domain	Immunoglobulin-like domain	13 - 120	IPR007110-1
domain	Immunoglobulin-like domain	147 - 246	IPR007110-2
domain	Immunoglobulin-like domain	253 - 347	IPR007110-3
domain	Immunoglobulin V-set domain	37 - 143	IPR013106

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
positive regulation of phagocytosis	Any process that activates or increases the frequency, rate or extent of phagocytosis.
positive regulation of T cell activation	Any process that activates or increases the frequency, rate or extent of T cell activation.
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.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9P1W8	SIRPG	Signal-regulatory protein gamma	Homo sapiens (Human)	PR
P78324	SIRPA	Tyrosine-protein phosphatase non-receptor type substrate 1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MPVPASWPHL	PSPFLLMTLL	LGRLTGVAGE	DELQVIQPEK	SVSVAAGESA	TLRCAMTSLI
70	80	90	100	110	120
PVGPIMWFRG	AGAGRELIYN	QKEGHFPRVT	TVSELTKRNN	LDFSISISNI	TPADAGTYYC
130	140	150	160	170	180
VKFRKGSPDD	VEFKSGAGTE	LSVRAKPSAP	VVSGPAVRAT	PEHTVSFTCE	SHGFSPRDIT
190	200	210	220	230	240
LKWFKNGNEL	SDFQTNVDPA	GDSVSYSIHS	TARVVLTRGD	VHSQVICEIA	HITLQGDPLR
250	260	270	280	290	300
GTANLSEAIR	VPPTLEVTQQ	PMRAENQANV	TCQVSNFYPR	GLQLTWLENG	NVSRTETAST
310	320	330	340	350	360
LIENKDGTYN	WMSWLLVNTC	AHRDDVVLTC	QVEHDGQQAV	SKSYALEISA	HQKEHGSDIT
370	380	390
HEAALAPTAP	LLVALLLGPK	LLLVVGVSAI	YICWKQKA