AiPD: Autoinhibited Protein Database

Q8NET5

Gene name	NFAM1 (CNAIP)
Protein name	NFAT activation molecule 1
Names	Calcineurin/NFAT-activating ITAM-containing protein, NFAT-activating protein with ITAM motif 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:150372
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

174-248 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

174-248 (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 Q8NET5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NET5-F1	Predicted				AlphaFoldDB

249 variants for Q8NET5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel rs1485331501 CA411778397	2	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
rs775662310 CA324674220	3	N>K		No	ClinGen TOPMed gnomAD
rs1601767573 CA411778392	3	N>T		No	ClinGen Ensembl
CA411778388 rs1200273487	4	Q>K		No	ClinGen gnomAD
rs1482825419 CA411778378	5	P>S		No	ClinGen gnomAD
CA10267778 rs766738788	7	R>K		No	ClinGen ExAC TOPMed gnomAD
rs765400565 CA10267775	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs577458452 CA10267776	9	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA411778350 rs1232370329	10	A>T		No	ClinGen gnomAD
rs1343569578 CA411778345	10	A>V		No	ClinGen gnomAD
CA411778334 rs1405052114	12	P>L		No	ClinGen gnomAD
CA411778337 rs1416901181	12	P>S		No	ClinGen TOPMed
rs776900366 CA10267773	13	G>C		No	ClinGen ExAC gnomAD
TCGA novel	13	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372030282 CA10267771	16	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs367992231 CA10267770	16	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA411778308 rs1432115693	17	P>L		No	ClinGen TOPMed gnomAD
CA10267769 rs771852404	17	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1038724374 CA324674142	18	P>A		No	ClinGen TOPMed gnomAD
rs1472286173 CA411778303	18	P>L		No	ClinGen gnomAD
rs1038724374 CA411778306	18	P>S		No	ClinGen TOPMed gnomAD
rs1344402014 CA411778294	20	L>F		No	ClinGen gnomAD
rs920329180 CA324674137	22	A>T		No	ClinGen TOPMed gnomAD
rs1438618405 CA411778274	23	A>V		No	ClinGen gnomAD
CA324674135 rs973169452	24	P>H		No	ClinGen TOPMed
rs1233920246 CA411778271	24	P>S		No	ClinGen TOPMed
rs944328224 CA324674133	26	L>P		No	ClinGen TOPMed
rs773701165 CA10267767	27	L>F		No	ClinGen ExAC gnomAD
CA411778254 rs773701165	27	L>V		No	ClinGen ExAC gnomAD
rs200074878 CA10267766	28	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138744630 CA10267764	30	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10267763 COSM169702 rs138744630	30	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA411778227 rs1191900050	32	L>Q		No	ClinGen TOPMed
CA411778229 rs747327402	32	L>V		No	ClinGen ExAC TOPMed gnomAD
rs750984804 CA10267759	35	G>R		No	ClinGen ExAC TOPMed gnomAD
rs750984804 CA411778212	35	G>W		No	ClinGen ExAC TOPMed gnomAD
CA10267757 rs536410077	38	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753923440 CA411778195	38	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753923440 CA10267756	38	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764247350 CA324674029	41	G>*		No	ClinGen ExAC gnomAD
rs764247350 CA10267755	41	G>R		No	ClinGen ExAC gnomAD
CA411780315 rs1301377927	43	Q>*		No	ClinGen gnomAD
rs777864713 CA10267734	45	V>M		No	ClinGen ExAC gnomAD
CA10267733 rs756299199	46	T>N		No	ClinGen ExAC gnomAD
CA411780286 rs1569232206	47	H>Q		No	ClinGen Ensembl
rs1409125546 CA411780280	48	T>I		No	ClinGen TOPMed gnomAD
rs1409125546 CA411780281	48	T>S		No	ClinGen TOPMed gnomAD
CA10267729 rs751317098	49	G>D		No	ClinGen ExAC TOPMed gnomAD
CA10267730 rs759442798	49	G>S		No	ClinGen ExAC TOPMed gnomAD
CA411780255 rs1196686660	53	M>L		No	ClinGen gnomAD
CA10267727 rs763015326	53	M>T		No	ClinGen ExAC gnomAD
CA10267723 rs776407547	57	A>V		No	ClinGen ExAC gnomAD
rs768193661 CA10267722	58	N>K		No	ClinGen ExAC gnomAD
rs1215602546 CA411780224	58	N>T		No	ClinGen gnomAD
rs1258327537 CA411780216	59	T>I		No	ClinGen Ensembl
rs1281405426 CA411780211	60	A>D		No	ClinGen gnomAD
CA10267720 rs779170958	61	I>T		No	ClinGen ExAC gnomAD
CA10267721 rs374966731	61	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10267719 rs771390026	62	S>F		No	ClinGen ExAC TOPMed gnomAD
CA411780201 rs1252582860	62	S>T		No	ClinGen TOPMed
CA10267718 rs749837728	64	S>G		No	ClinGen ExAC gnomAD
CA10267717 rs777809752	67	I>L		No	ClinGen ExAC gnomAD
CA411780162 rs1601751199	68	T>P		No	ClinGen Ensembl
rs755177325 CA10267713	72	T>I		No	ClinGen ExAC gnomAD
CA324700741 rs368146091	74	Q>H		No	ClinGen ESP TOPMed
rs758253259 CA10267711	74	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1269056996 CA411780103	76	K>N		No	ClinGen gnomAD
CA411780099 rs1176212374	77	V>F		No	ClinGen gnomAD
rs1400765930 CA411780084	79	T>I		No	ClinGen TOPMed
CA411780070 rs1299106437	81	S>I		No	ClinGen gnomAD
CA10267710 rs758386170	84	H>L		No	ClinGen ExAC gnomAD
CA411780048 rs758386170	84	H>P		No	ClinGen ExAC gnomAD
CA411780047 rs758386170	84	H>R		No	ClinGen ExAC gnomAD
CA411780026 rs1442259953	87	L>I		No	ClinGen gnomAD
rs764832713 CA10267708	90	Q>H		No	ClinGen ExAC gnomAD
CA10267707 rs375245541	92	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA411779982 rs1306103954	93	P>H		No	ClinGen TOPMed
rs1222209907 CA411779942	99	C>F		No	ClinGen gnomAD
CA411779938 rs1375831869	99	C>W		No	ClinGen gnomAD
rs1299617958 CA411779937	100	H>N		No	ClinGen TOPMed gnomAD
rs1299617958 CA411779935	100	H>Y		No	ClinGen TOPMed gnomAD
CA411779924 rs1360832193	101	P>L		No	ClinGen TOPMed gnomAD
rs1442633686 CA411779920	102	G>A		No	ClinGen gnomAD
rs1352994968 CA411779910	104	G>C		No	ClinGen TOPMed
TCGA novel	107	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470948427 CA411779879	108	Q>L		No	ClinGen gnomAD
CA411779859 rs1601751076	111	T>P		No	ClinGen Ensembl
rs544754182 CA10267702	114	C>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10267701 rs749783887	115	Q>*		No	ClinGen ExAC gnomAD
rs773775914 CA10267700	116	V>I		No	ClinGen ExAC gnomAD
CA10267698 rs748202445	118	L>P		No	ClinGen ExAC gnomAD
CA10267697 rs150375095	121	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1213051625 CA411779781	122	G>R		No	ClinGen Ensembl
rs577425190 CA10267695	123	A>T	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA10267694 rs779980214	123	A>V		No	ClinGen ExAC gnomAD
CA10267692 rs750244143	124	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765204574 CA10267691	126	T>I		No	ClinGen ExAC gnomAD
CA10267690 rs146782976	128	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA411779714 rs1312653482	129	Y>F		No	ClinGen gnomAD
rs760355726 CA10267687	130	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA10267689 rs753352452	130	Y>H		No	ClinGen ExAC gnomAD
CA10267688 rs763555993	130	Y>S		No	ClinGen ExAC gnomAD
rs766727716 CA10267685	132	S>C		No	ClinGen ExAC TOPMed gnomAD
CA10267683 rs763237020	134	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1601750976 CA411779626	137	H>P		No	ClinGen Ensembl
VAR_049964 RCV000880948 CA10267682 rs34296033	137	H>Y		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10267681 rs770295267	138	S>F		No	ClinGen ExAC gnomAD
CA10267680 rs750740918	139	T>M		No	ClinGen ExAC TOPMed gnomAD
CA411779595 rs1327477617	141	R>G		No	ClinGen TOPMed
CA10267679 rs151067441	142	G>R		No	ClinGen ESP ExAC gnomAD
CA10267678 rs768673933	143	S>G		No	ClinGen ExAC gnomAD
CA10267677 rs772432858 CA10267676	143	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	144	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1292760879 CA411779556	144	G>D		No	ClinGen TOPMed
rs745605357 CA10267674	144	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10267673 rs778608277	145	T>I		No	ClinGen ExAC gnomAD
rs757190824 CA10267672	146	F>L		No	ClinGen ExAC TOPMed gnomAD
CA411779535 rs1247871261	147	I>L		No	ClinGen gnomAD
CA411779513 rs1235398571	149	V>I		No	ClinGen TOPMed
CA10267671 rs753772374	150	R>K		No	ClinGen ExAC gnomAD
rs765629601	151	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA411779135 rs765629601	151	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1349382592 CA411779130	152	A>E		No	ClinGen gnomAD
CA10267646 rs142903439	152	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10267645 rs142903439	152	A>T	Variant assessed as Somatic; 5.343e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs943152622 CA324698736	153	G>E		No	ClinGen Ensembl
CA411779113 rs1601749477	154	Y>S		No	ClinGen Ensembl
rs377238214 CA10267643	155	R>*		No	ClinGen ESP ExAC gnomAD
rs1314806415 CA411779103	155	R>Q		No	ClinGen gnomAD
rs775683836 CA10267642	156	E>D		No	ClinGen ExAC gnomAD
rs1451050172 CA411779099	156	E>K		No	ClinGen gnomAD
rs1400157098 CA411779082	157	P>L		No	ClinGen gnomAD
CA10267641 rs544417162	157	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs374828953 CA10267640	158	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA411779077 rs1160497941	158	P>S		No	ClinGen TOPMed gnomAD
rs771190465 CA10267638	159	Q>R		No	ClinGen ExAC gnomAD
CA10267637 rs748980332	160	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1244860616 CA411779044	161	P>S		No	ClinGen gnomAD
rs1188246052 CA411779035	162	Q>*		No	ClinGen gnomAD
CA411779009 rs1445906149	164	L>H		No	ClinGen TOPMed gnomAD
rs1445906149 CA411779008	164	L>P		No	ClinGen TOPMed gnomAD
CA411779001 rs1206461333	165	L>P		No	ClinGen gnomAD
CA10267633 rs748131732	171	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780666940 CA10267632	171	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1320371914 CA411778919	173	L>P		No	ClinGen TOPMed gnomAD
rs1365210169 CA411778910	174	S>N		No	ClinGen gnomAD
CA411778862 rs1364135988	178	V>A		No	ClinGen TOPMed
rs746532577 CA10267629	178	V>I		No	ClinGen ExAC
rs758088681 CA10267627	180	G>D		No	ClinGen ExAC TOPMed gnomAD
rs758088681 CA10267628	180	G>V		No	ClinGen ExAC TOPMed gnomAD
CA411778841 rs1299700252	181	T>A		No	ClinGen TOPMed
rs367726590 CA10267626	181	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1267691246 CA411778784	186	W>C		No	ClinGen gnomAD
VAR_049965 rs17003048 RCV000958244 CA10267622	187	N>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA411778763 rs1203862149	188	K>E		No	ClinGen TOPMed
CA411777659 rs141047747	189	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3061830 CA324688383 rs927127417	190	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10267594 rs760703576	190	R>W		No	ClinGen ExAC TOPMed gnomAD
CA411777638 rs1434492980	191	M>I		No	ClinGen gnomAD
rs372496778 CA411777634	192	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA411777632 rs369551888	192	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369551888 CA10267592	192	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs372496778 CA10267593	192	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	195	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778644182 CA10267590	195	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10267587 rs781714390	197	D>E		No	ClinGen ExAC gnomAD
rs770722784 CA10267589	197	D>N		No	ClinGen ExAC gnomAD
CA10267588 rs748476165	197	D>V		No	ClinGen ExAC gnomAD
CA411777570 rs1192420329	198	P>S		No	ClinGen gnomAD
rs147344564 CA10267586	199	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752165069 CA10267585	200	R>G		No	ClinGen ExAC gnomAD
CA10267584 rs779993397	200	R>K		No	ClinGen ExAC gnomAD
rs750514720 CA10267582	201	K>R		No	ClinGen ExAC
rs762051697 CA324688285	203	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10267580 rs762051697	203	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA411777513 rs762051697	203	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1381971333 CA411777515	203	P>S		No	ClinGen gnomAD
rs201454033 CA10267579	204	D>H		No	ClinGen 1000Genomes ExAC gnomAD
CA411777491 rs1352916759	205	P>Q		No	ClinGen TOPMed
rs1157843505 CA411777485	206	R>G		No	ClinGen gnomAD
rs1398601818 CA411777479	206	R>K		No	ClinGen gnomAD
CA10267578 rs763995893	208	A>S		No	ClinGen ExAC TOPMed gnomAD
CA411777452 rs1179684840	209	S>R		No	ClinGen gnomAD
CA411777445 rs1444461293	209	S>T		No	ClinGen gnomAD
CA411777435 rs1020090168	210	S>G		No	ClinGen TOPMed gnomAD
rs1020090168 CA324688268	210	S>R		No	ClinGen TOPMed gnomAD
rs771911335 CA411777387	213	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1483609590 CA411777397	213	Q>K		No	ClinGen gnomAD
rs775568318 CA10267576	213	Q>R		No	ClinGen ExAC gnomAD
CA10267573 rs774021109	214	H>R		No	ClinGen ExAC gnomAD
CA10267574 rs759031410	214	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	215	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770667786 CA10267571	216	S>L		No	ClinGen ExAC gnomAD
TCGA novel	217	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550916047 CA10267569	218	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA10267570 rs550916047	218	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs747337093 CA10267567	219	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1264938746 CA411777095	222	A>D		No	ClinGen gnomAD
rs140355227 CA10267542	225	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10267541 rs371355764	225	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA411777077 rs371355764	225	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10267540 rs752498046	226	R>C		No	ClinGen ExAC gnomAD
rs767256709 CA10267539	226	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763457817 CA10267537	227	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766421990 CA10267536	228	T>P		No	ClinGen ExAC TOPMed gnomAD
rs201462280 CA411777059	229	E>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	229	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201462280 CA10267534	229	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10267533 rs760730749	232	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10267532 rs761408878	233	C>Y		No	ClinGen ExAC gnomAD
rs200270889 CA324681479	234	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200270889 CA10267531	234	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1569224668 CA411777019	235	E>G		No	ClinGen Ensembl
CA10267529 rs148031340	235	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA411776988 rs1199929516	239	G>D		No	ClinGen gnomAD
CA324681463 rs371632659	239	G>S		No	ClinGen Ensembl
CA411776981 rs1433539836	240	S>T		No	ClinGen gnomAD
rs1372217241 CA411776972	241	S>L		No	ClinGen TOPMed
rs771444740 CA411776970	242	P>A		No	ClinGen ExAC gnomAD
CA411776969 rs1601731686	242	P>H		No	ClinGen Ensembl
CA10267527 rs771444740	242	P>S		No	ClinGen ExAC gnomAD
rs1034549536 CA324681453	243	T>A		No	ClinGen TOPMed
CA10267524 rs756328699	244	A>S		No	ClinGen ExAC TOPMed gnomAD
CA324681441 rs756328699	244	A>T		No	ClinGen ExAC TOPMed gnomAD
CA411776956 rs1404346316	245	K>E		No	ClinGen TOPMed
rs748369396 CA10267523	245	K>N		No	ClinGen ExAC gnomAD
CA324681432 rs1021879523	246	Q>H		No	ClinGen TOPMed
rs1326118614 CA411776931	248	P>H		No	ClinGen TOPMed
CA411776934 rs141829113	248	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs141829113 CA10267522	248	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs181242861 CA10267519	249	L>F		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	249	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138771793 CA10267518	251	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202976334 CA411776919	251	Q>K		No	ClinGen TOPMed
CA411776431 rs1440555942	253	R>S		No	ClinGen Ensembl
rs187451861 CA10267496	254	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370189808 CA10267497	254	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763690917 CA10267494	256	R>G		No	ClinGen ExAC
rs760355432 CA10267493	257	F>C		No	ClinGen ExAC gnomAD
TCGA novel	257	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10267491 rs200499062	258	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
RCV000882790 rs151280792 CA10267488	261	G>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1341788338 CA411776288	262	E>A		No	ClinGen TOPMed gnomAD
CA10267485 rs145224229 COSM1034783	262	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA10267484 rs531308828	264	N>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	266	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10267482 rs771825914	267	Y>H		No	ClinGen ExAC gnomAD
CA411776146 rs1360856564	271	L>Q		No	ClinGen gnomAD
CA10267481 rs745676475	271	L>W		No	ClinGen ExAC gnomAD

No associated diseases with Q8NET5

2 regional properties for Q8NET5

Type	Name	Position	InterPro Accession
domain	Transposase IS110-like, N-terminal	60 - 183	IPR002525
domain	Transposase IS116/IS110/IS902, C-terminal	267 - 344	IPR003346

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein	Partially recruited to lipid rafts upon BCR stimulation
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
azurophil granule membrane	The lipid bilayer surrounding an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid.
integral component of membrane	The component of a 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.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

9 GO annotations of biological process

Name	Definition
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
B cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a B cell.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
positive regulation of B cell receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a B cell.
positive regulation of cytokine production	Any process that activates or increases the frequency, rate or extent of production of a cytokine.
positive regulation of DNA-binding transcription factor activity	Any process that activates or increases the frequency, rate or extent of activity of a transcription factor, any factor involved in the initiation or regulation of transcription.
regulation of B cell differentiation	Any process that modulates the frequency, rate or extent of B cell differentiation.
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.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MENQPVRWRA	LPGLPRPPGL	PAAPWLLLGV	LLLPGTLRLA	GGQSVTHTGL	PIMASLANTA
70	80	90	100	110	120
ISFSCRITYP	YTPQFKVFTV	SYFHEDLQGQ	RSPKKPTNCH	PGLGTENQSH	TLDCQVTLVL
130	140	150	160	170	180
PGASATGTYY	CSVHWPHSTV	RGSGTFILVR	DAGYREPPQS	PQKLLLFGFT	GLLSVLSVVG
190	200	210	220	230	240
TALLLWNKKR	MRGPGKDPTR	KCPDPRSASS	PKQHPSESVY	TALQRRETEV	YACIENEDGS
250	260
SPTAKQSPLS	QERPHRFEDD	GELNLVYENL