AiPD: Autoinhibited Protein Database

Q86SF2

Gene name	GALNT7
Protein name	N-acetylgalactosaminyltransferase 7
Names	Polypeptide GalNAc transferase 7, GalNAc-T7, pp-GaNTase 7, Protein-UDP acetylgalactosaminyltransferase 7, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 7
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51809
EC number	2.4.1.41: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-196 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-196 (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 Q86SF2

Entry ID	Method	Resolution	Chain	Position	Source
6IWQ	X-ray	295 A	A/B/C/D/E/F	61-657	PDB
6IWR	X-ray	260 A	A/B/C/D/E/F	61-657	PDB
AF-Q86SF2-F1	Predicted				AlphaFoldDB

406 variants for Q86SF2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs772895570 CA3140212	5	I>T		No	ClinGen ExAC gnomAD
TCGA novel	6	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140214 rs771060394	6	G>R		No	ClinGen ExAC gnomAD
CA3140217 rs764295254	10	R>H		No	ClinGen ExAC gnomAD
TCGA novel	10	R>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140218 rs776877351	12	L>*		No	ClinGen ExAC gnomAD
rs1162639623 CA358809037	12	L>F		No	ClinGen gnomAD
rs761948601 CA3140219	14	V>L		No	ClinGen ExAC gnomAD
rs373166043 CA3140220	17	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA358809077 rs1418919618	19	L>V		No	ClinGen TOPMed
rs1181720435 CA358809084	20	G>E		No	ClinGen TOPMed
rs868229824 CA111019939	20	G>K		No	ClinGen Ensembl
CA358809097 rs1485352062	22	V>A		No	ClinGen TOPMed gnomAD
CA358809103 rs1326541773	23	V>G		No	ClinGen TOPMed gnomAD
CA3140224 rs766916179	24	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3140223 rs766916179	24	L>I		No	ClinGen ExAC TOPMed gnomAD
CA358809111 rs1579868476	25	W>*		No	ClinGen Ensembl
rs998157570 CA111019940	26	S>F		No	ClinGen Ensembl
rs1282968681 CA358809125	27	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3140225 rs754443674	28	L>P		No	ClinGen ExAC gnomAD
rs1267834713 CA358809135	29	T>N		No	ClinGen gnomAD
CA111019941 rs1026594205	30	P>L		No	ClinGen Ensembl
CA358809140 rs1327510398	30	P>S		No	ClinGen gnomAD
CA358809147 rs1285181568	31	R>Q		No	ClinGen gnomAD
CA3140226 rs780571996	32	P>L		No	ClinGen ExAC gnomAD
rs1255324388 CA358809161	34	D>N		No	ClinGen gnomAD
CA3140228 rs146537464	35	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358809175 rs1287374852	36	S>G		No	ClinGen TOPMed
rs537694189 CA3140229	36	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358809184 rs935972665	37	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs935972665 CA111019942	37	P>Q		No	ClinGen TOPMed gnomAD
rs935972665 CA358809185	37	P>R		No	ClinGen TOPMed gnomAD
rs1451314872 CA358809183	37	P>S		No	ClinGen gnomAD
rs1474659814 CA358809188	38	L>Q		No	ClinGen gnomAD
rs770970243 CA3140231	39	S>T		No	ClinGen ExAC gnomAD
rs774383117 CA3140232	40	R>K		No	ClinGen ExAC gnomAD
rs140012242 CA3140234	41	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1324453863 CA358809214	42	R>K		No	ClinGen TOPMed
CA3140251 rs772196744	45	R>I		No	ClinGen ExAC gnomAD
rs1454356568 CA358742386	46	D>E		No	ClinGen gnomAD
CA358742377 rs1396488354	46	D>N		No	ClinGen gnomAD
rs187257127 CA3140252	48	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3140253 rs748222274	49	D>G		No	ClinGen ExAC gnomAD
CA3140254 rs112248110	50	P>H		No	ClinGen ExAC gnomAD
CA110704708 rs112248110	50	P>L		No	ClinGen ExAC gnomAD
CA358742427 rs112248110	50	P>R		No	ClinGen ExAC gnomAD
CA110704714 rs755327844	51	M>L		No	ClinGen Ensembl
CA110704718 rs757776135	51	M>T		No	ClinGen TOPMed
CA3140255 rs773263410	52	P>A		No	ClinGen ExAC gnomAD
rs773263410 CA3140256	52	P>T		No	ClinGen ExAC gnomAD
rs771228086 CA3140257	53	N>D		No	ClinGen ExAC gnomAD
rs774753627 CA3140258	54	R>*		No	ClinGen ExAC gnomAD
rs760030455 CA3140259	54	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA358742486 rs1293455922	56	G>D		No	ClinGen gnomAD
rs779457968 CA3140261	56	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3140262 rs760056094	57	N>K		No	ClinGen ExAC gnomAD
rs938637264 CA110704745	58	G>R		No	ClinGen TOPMed gnomAD
rs1251786674 CA358742517	59	L>P		No	ClinGen gnomAD
CA358742535 rs1355442348	61	P>L		No	ClinGen gnomAD
rs746373802 CA358742531	61	P>S		No	ClinGen TOPMed
CA110704752 rs746373802	61	P>T		No	ClinGen TOPMed
rs1227374302 CA358742554	63	E>G		No	ClinGen TOPMed
CA358742548 rs1211539230	63	E>K		No	ClinGen gnomAD
rs1306106164 CA358742568	64	D>G		No	ClinGen TOPMed
CA358742594 rs1254495703	66	F>C		No	ClinGen gnomAD
CA358742595 rs753477835 CA3140264	66	F>L		No	ClinGen ExAC gnomAD
rs1187524996 CA358742613	68	P>S		No	ClinGen gnomAD
rs1259136781 CA358742627 CA358742623	69	V>L		No	ClinGen gnomAD
rs756988200 CA3140265	71	P>S		No	ClinGen ExAC gnomAD
rs1368348621 CA358742675	73	P>L		No	ClinGen gnomAD
CA110704763 rs988839523	74	H>R		No	ClinGen gnomAD
rs778840297 CA3140266	75	V>A		No	ClinGen ExAC gnomAD
rs778840297 CA358742694	75	V>D		No	ClinGen ExAC gnomAD
TCGA novel	76	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750313612 CA3140267	78	V>A		No	ClinGen ExAC gnomAD
TCGA novel	80	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358742774 rs1456972310	81	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA358742777 rs1456972310	81	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	82	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140268 rs768197928	82	L>V		No	ClinGen ExAC gnomAD
CA110704777 rs200825612	83	E>A		No	ClinGen gnomAD
rs1364221169 CA358742811	83	E>K		No	ClinGen gnomAD
TCGA novel	87	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	93	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358742985 rs779805282	93	N>K		No	ClinGen ExAC gnomAD
rs1311291484 CA358742966	93	N>Y		No	ClinGen TOPMed
CA358743015 rs1231240044	95	Q>P		No	ClinGen gnomAD
TCGA novel	97	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358743064 rs377262941	98	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA110704794 rs377262941	98	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140272 rs377262941	98	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140273 rs749499370	99	A>V		No	ClinGen ExAC gnomAD
CA3140275 rs774668001	102	D>H		No	ClinGen ExAC gnomAD
rs774668001 CA358743124	102	D>Y		No	ClinGen ExAC gnomAD
CA3140276 rs759944505	103	S>C		No	ClinGen ExAC gnomAD
CA3140278 rs775822008	104	Q>*		No	ClinGen ExAC gnomAD
CA358743162 rs1474481811	104	Q>R		No	ClinGen gnomAD
CA3140280 rs763458221	107	I>N		No	ClinGen ExAC TOPMed gnomAD
CA3140281 rs763458221	107	I>T		No	ClinGen ExAC TOPMed gnomAD
rs761252993 CA3140279	107	I>V		No	ClinGen ExAC gnomAD
CA3140282 rs761556477	108	M>T		No	ClinGen ExAC gnomAD
CA358743253 rs1157260622	109	Q>H		No	ClinGen gnomAD
rs765028660 CA3140283	110	R>T		No	ClinGen ExAC gnomAD
rs758084031 CA3140285	111	Q>H		No	ClinGen ExAC gnomAD
rs751393059 CA3140287	112	Y>N		No	ClinGen ExAC
rs754998626 CA3140288	116	K>R		No	ClinGen ExAC gnomAD
rs148957464 CA3140289	119	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1254874994 CA358743360	119	T>I		No	ClinGen TOPMed
CA358743377 rs1295018689	120	F>L		No	ClinGen gnomAD
CA358743368 rs1350310641	120	F>V		No	ClinGen gnomAD
rs769445774 CA110704801	122	Y>C		No	ClinGen gnomAD
CA358743408 rs1222941913	123	H>R		No	ClinGen gnomAD
CA358743439 rs1189228800	126	V>M		No	ClinGen TOPMed
rs201525232 COSM1683070 CA3140290	128	R>C	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201773910 CA3140291	128	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs143737171 CA3140292	130	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA358743500 rs1219557689	133	G>S		No	ClinGen TOPMed
rs113680491 CA110704802	135	F>S		No	ClinGen gnomAD
CA358743555 rs1482946778	137	P>A		No	ClinGen gnomAD
CA358743566 rs1334641605	138	K>E		No	ClinGen TOPMed
rs775940079 CA3140295	139	E>Q		No	ClinGen ExAC gnomAD
rs1291610666 CA358743591	140	P>T		No	ClinGen TOPMed
rs1310196177 CA358743606	141	E>V		No	ClinGen Ensembl
rs994514137 CA110704804	142	P>L		No	ClinGen gnomAD
CA3140296 rs747459843	143	P>S		No	ClinGen ExAC TOPMed gnomAD
rs769276386 CA3140297	145	V>M		No	ClinGen ExAC gnomAD
rs776254303 CA3140298	146	V>L		No	ClinGen ExAC gnomAD
CA358743733 rs1375946172	155	P>T		No	ClinGen gnomAD
rs1561172276 CA358743744	157	V>I		No	ClinGen Ensembl
TCGA novel	158	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772929696 CA3140301	162	F>L		No	ClinGen ExAC gnomAD
CA358743845 rs1328353059	167	Q>E		No	ClinGen TOPMed
CA358743881 rs1302199865	169	S>G		No	ClinGen gnomAD
rs762677223 CA3140303	170	I>L		No	ClinGen ExAC gnomAD
CA358743931 rs1389594898	171	K>N		No	ClinGen TOPMed
TCGA novel	172	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140304 rs766073687	172	E>D		No	ClinGen ExAC gnomAD
CA3140305 rs564859392	175	F>C		No	ClinGen 1000Genomes ExAC gnomAD
rs754839218 CA3140306	176	N>H		No	ClinGen ExAC TOPMed gnomAD
CA358744071 rs1203016616	180	S>N		No	ClinGen TOPMed gnomAD
rs1460691828 CA358744116	182	M>I		No	ClinGen TOPMed
CA358744112 rs1481144301	182	M>R		No	ClinGen gnomAD
CA358744110 rs1481144301	182	M>T		No	ClinGen gnomAD
CA358744104 rs1235025779	182	M>V		No	ClinGen gnomAD
rs767490531 CA3140307	183	I>V		No	ClinGen ExAC gnomAD
CA358744190 rs1251319167	187	R>C		No	ClinGen TOPMed gnomAD
COSM1671438 CA3140308 rs752654045	187	R>H	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA358744199 rs752654045	187	R>L		No	ClinGen ExAC TOPMed gnomAD
CA110704834 rs151095044	188	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs79967711 COSM1618598 CA3140310	189	V>I	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3140311 rs746022763	190	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM383405 CA110704844 rs531441421	193	R>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1442639607 CA358744293 COSM1053242	193	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3140313 rs758706962	194	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3140314 rs780281765	194	Q>R		No	ClinGen ExAC gnomAD
CA358744331 rs1303578524	195	E>D		No	ClinGen TOPMed gnomAD
rs1442472518 CA358744318	195	E>K		No	ClinGen gnomAD
rs1264213482 CA358752219	198	K>R		No	ClinGen TOPMed
CA358752263 rs1234231985	201	H>Y		No	ClinGen gnomAD
rs1579995975 CA358752305	203	D>V		No	ClinGen Ensembl
CA110733315 rs931786467	205	N>H		No	ClinGen Ensembl
rs1051627824 CA110733333	207	L>F		No	ClinGen Ensembl
rs1051627824 CA110733325	207	L>V		No	ClinGen Ensembl
CA110733344 rs1003742158	208	T>I		No	ClinGen TOPMed
CA3140345 COSM1053243 rs374322805	209	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3140348 rs146899388	211	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs763045588 CA3140349 COSM3380872	217	N>D	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA358752497 rs1231639877	219	G>A		No	ClinGen TOPMed gnomAD
rs1231639877 CA358752496	219	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	221	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201407758 CA3140351	222	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1388598856 CA358752531	222	T>I		No	ClinGen TOPMed
rs201407758 CA3140352	222	T>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1458448343 CA358752555	224	M>I		No	ClinGen gnomAD
rs1425176728 CA358752547	224	M>L		No	ClinGen TOPMed
CA3140353 rs781685538	226	T>R		No	ClinGen ExAC gnomAD
rs1561192431 CA358752598	228	H>Y		No	ClinGen Ensembl
rs200993090 CA110733413	229	S>N		No	ClinGen 1000Genomes
CA358752647 rs1201136068	231	I>T		No	ClinGen gnomAD
rs1433540742 CA358752654	232	K>E		No	ClinGen TOPMed gnomAD
rs1311616681 CA358752693	235	P>A		No	ClinGen TOPMed gnomAD
CA358752747 rs1377760412	239	L>S		No	ClinGen gnomAD
rs35266019 CA110733420	240	A>P		No	ClinGen Ensembl
rs753149403 CA3140354	240	A>V		No	ClinGen ExAC gnomAD
CA358752795 rs1328536610	243	V>L		No	ClinGen gnomAD
COSM1053244 rs778293721 CA3140356	247	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749791029 CA3140357	250	N>H		No	ClinGen ExAC gnomAD
TCGA novel	251	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745424531 CA3140379	252	E>G		No	ClinGen ExAC gnomAD
CA3140381 rs34460464	253	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA358753378 rs1371801720	253	H>Y		No	ClinGen gnomAD
CA3140382 rs746665939	254	L>F		No	ClinGen ExAC TOPMed gnomAD
CA358753406 rs1328132918	255	K>I		No	ClinGen gnomAD
rs768436145 CA3140383	255	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	257	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140384 rs535171429	258	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358753490 rs1381672150	262	I>M		No	ClinGen gnomAD
CA358753488 rs1391647600	262	I>S		No	ClinGen TOPMed
rs1018054950 CA110736466	263	K>Q		No	ClinGen TOPMed
CA358753534 rs1443516792	266	N>S		No	ClinGen TOPMed
CA3140385 rs143417751	267	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA358753561 rs1561193722	269	V>A		No	ClinGen Ensembl
rs769657556 CA3140386	269	V>L		No	ClinGen ExAC gnomAD
rs150099323 CA3140388	271	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340415814 CA358753589	272	F>L		No	ClinGen TOPMed
rs1211486263 CA358753601 COSM208172	273	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3140390 COSM1053245 rs775788103	273	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA358753634 rs1203966448 COSM1053246	276	R>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3140392 rs555953992	276	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA358753637 rs555953992	276	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA358753644 rs1430866768	277	R>G		No	ClinGen gnomAD
CA3140393 rs764508090	278	E>G		No	ClinGen ExAC
COSM447608 rs190188302 CA3140396	284	R>*	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA3140395 rs190188302	284	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358753695 rs1250176489 COSM1428607	284	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1397854212 CA358753698	285	S>R		No	ClinGen TOPMed
rs182780986 CA3140398	286	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3140397 rs750953961	286	I>V		No	ClinGen ExAC gnomAD
rs372441092 CA3140399	293	L>F		No	ClinGen ESP ExAC gnomAD
rs372441092 CA358753754	293	L>V		No	ClinGen ESP ExAC gnomAD
CA358753796 rs1173033190	297	L>F		No	ClinGen gnomAD
rs1377417346 CA358753799	298	I>L		No	ClinGen gnomAD
rs763505610 CA358753810	299	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA3140419 rs765866402	300	L>F		No	ClinGen ExAC gnomAD
rs765866402 CA358753813	300	L>V		No	ClinGen ExAC gnomAD
rs751068028 CA3140420	301	D>E		No	ClinGen ExAC gnomAD
CA3140421 rs754635566	302	A>S		No	ClinGen ExAC gnomAD
rs780658041 CA3140422	303	H>R		No	ClinGen ExAC TOPMed gnomAD
CA358753831 rs1206892633	303	H>Y		No	ClinGen TOPMed
rs752424674 CA3140423	305	E>D		No	ClinGen ExAC TOPMed gnomAD
CA358753858 rs1561193964	307	A>P		No	ClinGen Ensembl
CA358753888 rs1346270543	310	W>L		No	ClinGen gnomAD
rs1329093648 CA358753931	314	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	315	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140424 rs755798606	317	P>R		No	ClinGen ExAC gnomAD
rs1238485157 CA358753974	318	I>T		No	ClinGen gnomAD
rs1561193982 CA358753967	318	I>V		No	ClinGen Ensembl
CA3140425 rs28521141	320	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760374528	328	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	335	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	343	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	343	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	356	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	358	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs988620410	381	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs758257810	382	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs751504363	383	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3140511 rs764128789	386	A>P		No	ClinGen ExAC gnomAD
rs1298647121 CA358755871	387	M>L		No	ClinGen gnomAD
TCGA novel	388	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378171878 CA358755881	388	A>S		No	ClinGen gnomAD
rs1340580616 CA358755917	393	A>G		No	ClinGen gnomAD
rs1284519816 CA358755957	396	R>Q		No	ClinGen TOPMed gnomAD
rs779137076 CA3140514	399	F>S		No	ClinGen ExAC gnomAD
rs1482468777 CA358756072	405	Y>C		No	ClinGen gnomAD
CA358756070 rs1280120308	405	Y>H		No	ClinGen gnomAD
rs1183840918 CA358756087	406	D>E		No	ClinGen gnomAD
CA358756096 rs1431759489	408	G>R		No	ClinGen TOPMed
rs1477544233 CA358756147	412	W>*		No	ClinGen TOPMed
CA110741778 rs1007079844	414	G>A		No	ClinGen Ensembl
TCGA novel	414	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1580005295 CA358756211	418	E>K		No	ClinGen Ensembl
CA3140532 rs143154840	423	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA3140533 rs758594665	432	F>C		No	ClinGen ExAC gnomAD
CA358741949 rs1580006953	433	V>F		No	ClinGen Ensembl
CA358741954 rs1357099857	434	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3140534 rs766814544	435	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1431252864 CA358741974	437	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3140535 rs559934063	437	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1359494355 CA358741990	440	H>Y		No	ClinGen gnomAD
rs1334775662 CA358742002	441	I>M		No	ClinGen TOPMed
CA3140536 rs755410918	441	I>T		No	ClinGen ExAC gnomAD
CA3140537 rs781738624	443	R>C		No	ClinGen ExAC gnomAD
rs748636968 CA3140538	443	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1446791320 CA358742032	446	G>D		No	ClinGen gnomAD
rs777199234 CA3140540	452	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3140542 rs770637602	454	I>F		No	ClinGen ExAC gnomAD
CA358742100 rs1389081466	456	V>A		No	ClinGen TOPMed
CA110703863 rs377071584	456	V>I		No	ClinGen ESP TOPMed gnomAD
CA110703864 rs920013656	460	P>L		No	ClinGen TOPMed gnomAD
CA110703865 rs948709638	463	K>N		No	ClinGen TOPMed
CA358743818 rs1487856972	464	N>H		No	ClinGen gnomAD
CA3140581 rs368306335	466	V>I		No	ClinGen ESP ExAC gnomAD
rs1475558706 CA358743872	467	R>G		No	ClinGen gnomAD
COSM1618600 rs1162276297 CA358743908	469	V>M	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1411064463 CA358743959	472	W>R		No	ClinGen gnomAD
CA110705675 rs976486724	474	D>N		No	ClinGen TOPMed gnomAD
CA358744044 rs1406539899	475	E>*		No	ClinGen TOPMed gnomAD
CA358744039 rs1406539899	475	E>K		No	ClinGen TOPMed gnomAD
CA110705677 rs977254176	476	Y>C		No	ClinGen Ensembl
rs748806774 CA3140583	479	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA358744160 rs1418388824	480	F>C		No	ClinGen gnomAD
CA358744156 rs1418388824	480	F>Y		No	ClinGen gnomAD
CA358744170 rs1309216094	481	Y>H		No	ClinGen gnomAD
rs1341518754 CA358744219	483	S>I		No	ClinGen gnomAD
CA3140584 rs756772576	484	R>C		No	ClinGen ExAC gnomAD
CA3140585 rs150013223	484	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140586 rs745548668	485	P>L		No	ClinGen ExAC gnomAD
rs775194329 CA3140588	487	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1214316487 CA358744307	488	Q>*		No	ClinGen gnomAD
rs768538862 CA3140591	489	A>S		No	ClinGen ExAC gnomAD
rs768538862 CA3140590	489	A>T		No	ClinGen ExAC gnomAD
CA358744338 rs1486034757	489	A>V		No	ClinGen gnomAD
CA358744369 rs1424029560	491	P>S		No	ClinGen TOPMed
CA358744366 rs1424029560	491	P>T		No	ClinGen TOPMed
TCGA novel	492	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170343635 CA358744376	492	Y>H		No	ClinGen TOPMed
TCGA novel	494	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766600733 CA3140593	495	I>V		No	ClinGen ExAC gnomAD
rs774669298 CA3140594	496	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA110705691 rs888781922	496	S>T		No	ClinGen Ensembl
rs549809922 CA3140596	497	E>A		No	ClinGen 1000Genomes ExAC
TCGA novel	501	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761230821 COSM1053250 CA3140598	502	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA358744525 rs761230821	502	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764451249 CA3140599	502	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA358744550 rs1160960198	504	D>N		No	ClinGen TOPMed gnomAD
CA358744561 rs1475114692	504	D>V		No	ClinGen gnomAD
rs1160960198 CA358744554	504	D>Y		No	ClinGen TOPMed gnomAD
rs1332476201 CA358744580	505	H>Q		No	ClinGen gnomAD
rs1361061149 CA358744602	507	C>S		No	ClinGen gnomAD
rs991030080 CA110705698	507	C>Y		No	ClinGen TOPMed
rs754374315 CA3140600	508	K>E		No	ClinGen ExAC gnomAD
CA3140601 rs201305369	508	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358744721 rs1347259550	514	M>V		No	ClinGen TOPMed
CA110705705 rs142517079	520	D>G		No	ClinGen ESP
CA3140606 rs779890900	522	T>I		No	ClinGen ExAC TOPMed gnomAD
CA358744849 rs1276221364	524	H>R		No	ClinGen gnomAD
rs768506630 CA3140608	525	Y>C		No	ClinGen ExAC gnomAD
rs774616056 CA3140614	529	P>L		No	ClinGen ExAC gnomAD
rs774616056 CA3140613	529	P>R		No	ClinGen ExAC gnomAD
rs144873913 CA3140612	529	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200173813 CA3140615	530	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3140616 rs200173813	530	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	531	N>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel rs760881213 CA3140617	534	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
TCGA novel	534	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754683458 CA3140627	539	G>S		No	ClinGen ExAC gnomAD
rs1218721398 CA358746056	540	F>Y		No	ClinGen TOPMed
CA3140629 COSM171720 rs748069163	541	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3140630 rs181792131	543	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA358746183 rs1561203039	546	I>T		No	ClinGen Ensembl
rs1561203036 CA358746174	546	I>V		No	ClinGen Ensembl
TCGA novel	548	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745885499 CA3140632	549	M>R		No	ClinGen ExAC gnomAD
TCGA novel	550	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772196230 CA3140633	557	V>A		No	ClinGen ExAC TOPMed gnomAD
CA358746438 rs1168610658	557	V>L		No	ClinGen gnomAD
CA358746490 rs1321445126	559	L>R		No	ClinGen gnomAD
CA358746501 rs1347165327	560	G>E		No	ClinGen gnomAD
CA110706368 rs886853943	562	C>F		No	ClinGen Ensembl
rs1277205290 CA358746518	562	C>R		No	ClinGen gnomAD
CA358746598 rs1398397719	564	R>S		No	ClinGen TOPMed
CA110706370 rs1005082462	565	M>L		No	ClinGen TOPMed
TCGA novel	565	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466233996 CA358746669	567	G>E		No	ClinGen TOPMed
rs1315731688 CA358746684	568	N>Y		No	ClinGen gnomAD
rs1328901657 CA358746913	570	L>V		No	ClinGen TOPMed
rs147955065 CA3140655	573	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140656 rs369228458	574	N>S		No	ClinGen ESP ExAC gnomAD
rs141871557 CA3140657	575	E>K		No	ClinGen ESP ExAC gnomAD
CA358747048 rs1485485956	577	N>S		No	ClinGen gnomAD
CA358747079 rs1189766393	579	L>F		No	ClinGen gnomAD
TCGA novel	583	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA358747193 rs1162114171	584	Q>P		No	ClinGen TOPMed
CA3140659 rs763567726	591	D>Y		No	ClinGen ExAC gnomAD
CA3140660 rs765779341	595	V>I		No	ClinGen ExAC gnomAD
CA3140661 rs773979622	598	T>I		No	ClinGen ExAC gnomAD
CA110706488 rs920777829	599	H>D		No	ClinGen Ensembl
rs759099342 CA3140662	599	H>P		No	ClinGen ExAC gnomAD
rs1400987211 CA358747590	600	C>F		No	ClinGen gnomAD
rs1400987211 CA358747585	600	C>Y		No	ClinGen gnomAD
rs771993208 CA110706490	604	E>Q		No	ClinGen TOPMed
TCGA novel	606	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140663 rs143003226	607	E>Q		No	ClinGen ESP ExAC
CA358747796 rs1445645897	608	W>*		No	ClinGen TOPMed
rs372951783 CA3140664	608	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316626834 CA358747829	609	Q>L		No	ClinGen gnomAD
CA358748540 rs1177700593	620	I>V		No	ClinGen gnomAD
CA3140684 rs369534797	621	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs763949485 CA3140685	623	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1157489777 CA358748593	625	C>Y		No	ClinGen TOPMed
CA358748631 rs1464760659	628	R>H		No	ClinGen TOPMed gnomAD
CA358748634 rs1464760659	628	R>L		No	ClinGen TOPMed gnomAD
rs994796637 CA110706996	629	S>L		No	ClinGen Ensembl
rs761640054 CA3140687	634	Q>R		No	ClinGen ExAC gnomAD
CA358748726 rs1184927482	637	I>V		No	ClinGen TOPMed
CA3140689 rs750328859	639	N>K		No	ClinGen ExAC gnomAD
rs765159421 CA3140688	639	N>Y		No	ClinGen ExAC gnomAD
rs1561204985 CA358748759	640	C>R		No	ClinGen Ensembl
rs934493425 CA110707001	642	S>A		No	ClinGen TOPMed gnomAD
CA358748795 rs1407099873	643	S>G		No	ClinGen gnomAD
rs1217032450 CA358748808	644	K>E		No	ClinGen gnomAD
CA3140690 COSM3696531 rs755005166	645	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	648	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	649	W>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1264754730 CA358748880	650	E>K		No	ClinGen gnomAD
rs1269296331 CA358748901	651	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	651	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3140693 rs756398949	651	M>T		No	ClinGen ExAC gnomAD
CA3140692 rs752887183	651	M>V		No	ClinGen ExAC gnomAD
rs1477328976 CA358748912	652	N>S		No	ClinGen gnomAD
TCGA novel	653	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373823508 CA3140696	655	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140695 rs373823508	655	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3140694 rs777988314	655	H>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q86SF2

3 regional properties for Q86SF2

Type	Name	Position	InterPro Accession
domain	Ricin B, lectin domain	534 - 652	IPR000772
domain	Glycosyltransferase 2-like	210 - 394	IPR001173
domain	N-acetylgalactosaminyltransferase	210 - 518	IPR045885

Functions

		Description
EC Number	2.4.1.41	Hexosyltransferases
Subcellular Localization	Golgi apparatus membrane ; Single-pass type II membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

3 GO annotations of molecular function

Name	Definition
carbohydrate binding	Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates.
metal ion binding	Binding to a metal ion.
polypeptide N-acetylgalactosaminyltransferase activity	Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis.

3 GO annotations of biological process

Name	Definition
carbohydrate metabolic process	The chemical reactions and pathways involving carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y.
O-glycan processing	The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure.
protein O-linked glycosylation	A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NY28	GALNT8	Probable polypeptide N-acetylgalactosaminyltransferase 8	Homo sapiens (Human)	PR
Q7Z7M9	GALNT5	Polypeptide N-acetylgalactosaminyltransferase 5	Homo sapiens (Human)	PR
Q86SR1	GALNT10	Polypeptide N-acetylgalactosaminyltransferase 10	Homo sapiens (Human)	PR
Q49A17	GALNTL6	Polypeptide N-acetylgalactosaminyltransferase-like 6	Homo sapiens (Human)	PR
Q8IUC8	GALNT13	Polypeptide N-acetylgalactosaminyltransferase 13	Homo sapiens (Human)	PR
Q96FL9	GALNT14	Polypeptide N-acetylgalactosaminyltransferase 14	Homo sapiens (Human)	PR
Q10471	GALNT2	Polypeptide N-acetylgalactosaminyltransferase 2	Homo sapiens (Human)	PR
Q8IXK2	GALNT12	Polypeptide N-acetylgalactosaminyltransferase 12	Homo sapiens (Human)	PR
Q14435	GALNT3	Polypeptide N-acetylgalactosaminyltransferase 3	Homo sapiens (Human)	PR
Q10472	GALNT1	Polypeptide N-acetylgalactosaminyltransferase 1	Homo sapiens (Human)	PR
Q80VA0	Galnt7	N-acetylgalactosaminyltransferase 7	Mus musculus (Mouse)	PR
Q9R0C5	Galnt7	N-acetylgalactosaminyltransferase 7	Rattus norvegicus (Rat)	PR
O61397	gly-7	Probable N-acetylgalactosaminyltransferase 7	Caenorhabditis elegans	PR

10	20	30	40	50	60
MRLKIGFILR	SLLVVGSFLG	LVVLWSSLTP	RPDDPSPLSR	MREDRDVNDP	MPNRGGNGLA
70	80	90	100	110	120
PGEDRFKPVV	PWPHVEGVEV	DLESIRRINK	AKNEQEHHAG	GDSQKDIMQR	QYLTFKPQTF
130	140	150	160	170	180
TYHDPVLRPG	ILGNFEPKEP	EPPGVVGGPG	EKAKPLVLGP	EFKQAIQASI	KEFGFNMVAS
190	200	210	220	230	240
DMISLDRSVN	DLRQEECKYW	HYDENLLTSS	VVIVFHNEGW	STLMRTVHSV	IKRTPRKYLA
250	260	270	280	290	300
EIVLIDDFSN	KEHLKEKLDE	YIKLWNGLVK	VFRNERREGL	IQARSIGAQK	AKLGQVLIYL
310	320	330	340	350	360
DAHCEVAVNW	YAPLVAPISK	DRTICTVPLI	DVINGNTYEI	IPQGGGDEDG	YARGAWDWSM
370	380	390	400	410	420
LWKRVPLTPQ	EKRLRKTKTE	PYRSPAMAGG	LFAIEREFFF	ELGLYDPGLQ	IWGGENFEIS
430	440	450	460	470	480
YKIWQCGGKL	LFVPCSRVGH	IYRLEGWQGN	PPPIYVGSSP	TLKNYVRVVE	VWWDEYKDYF
490	500	510	520	530	540
YASRPESQAL	PYGDISELKK	FREDHNCKSF	KWFMEEIAYD	ITSHYPLPPK	NVDWGEIRGF
550	560	570	580	590	600
ETAYCIDSMG	KTNGGFVELG	PCHRMGGNQL	FRINEANQLM	QYDQCLTKGA	DGSKVMITHC
610	620	630	640	650
NLNEFKEWQY	FKNLHRFTHI	PSGKCLDRSE	VLHQVFISNC	DSSKTTQKWE	MNNIHSV