Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5277
Gene name	Phosphatidylinositol glycan anchor biosynthesis class A
Gene symbol	PIGA
Synonyms (NCBI Gene)	GPI3MCAHS2NEDEPHPIG-APNH1
Chromosome	X
Chromosome location	Xp22.2
Summary	This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs199422232	G>T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs199422233	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, non coding transcript variant, coding sequence variant, stop gained
rs201119959	T>A,C	Uncertain-significance, pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant, missense variant
rs387906726	G>A,T	Likely-benign, pathogenic	Non coding transcript variant, synonymous variant, stop gained, coding sequence variant
rs587776723	A>-	Pathogenic	Splice donor variant
rs587776724	->T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776725	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587776726	->AC	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776727	G>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587776728	GA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs587777396	G>A	Likely-pathogenic, pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587777397	->A	Pathogenic	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs587777398	C>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs587777399	AAG>-	Pathogenic	Non coding transcript variant, inframe deletion, coding sequence variant
rs587777400	G>A	Pathogenic	Missense variant, non coding transcript variant, upstream transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs786200912	->TTTCAATGATAGAATCTGGAGTCATCCATCTCAA	Pathogenic	Stop gained, inframe indel, non coding transcript variant, coding sequence variant
rs797044924	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, missense variant, upstream transcript variant, coding sequence variant
rs879255543	->C	Pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, upstream transcript variant, frameshift variant, coding sequence variant
rs1057523554	T>C	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant, non coding transcript variant
rs1060499625	G>C	Likely-pathogenic	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant, intron variant
rs1060499666	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1555945480	G>A	Likely-pathogenic	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1555945553	C>T	Likely-pathogenic	Intron variant, non coding transcript variant, genic upstream transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs1602206514	->TCCAGGCA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602208229	A>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1602212285	G>A	Likely-pathogenic	Coding sequence variant, upstream transcript variant, intron variant, genic upstream transcript variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT028798	hsa-miR-26b-5p	Microarray	19088304
MIRT043655	hsa-miR-326	CLASH	23622248
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT535269	hsa-miR-4295	PAR-CLIP	20371350
MIRT535268	hsa-miR-3666	PAR-CLIP	20371350
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT535265	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT535264	hsa-miR-302e	PAR-CLIP	20371350
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT535260	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT535259	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT535257	hsa-miR-520e	PAR-CLIP	20371350
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT535253	hsa-miR-520b	PAR-CLIP	20371350
MIRT535252	hsa-miR-5692a	PAR-CLIP	20371350
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT535245	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT535242	hsa-miR-4696	PAR-CLIP	20371350
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566426	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT566425	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT566424	hsa-miR-3689e	PAR-CLIP	20371350
MIRT566423	hsa-miR-3689f	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT535269	hsa-miR-4295	PAR-CLIP	22012620
MIRT535268	hsa-miR-3666	PAR-CLIP	22012620
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT535265	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT535264	hsa-miR-302e	PAR-CLIP	22012620
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT535260	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT535259	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT535257	hsa-miR-520e	PAR-CLIP	22012620
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT535253	hsa-miR-520b	PAR-CLIP	22012620
MIRT535252	hsa-miR-5692a	PAR-CLIP	22012620
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT535245	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	22012620
MIRT535242	hsa-miR-4696	PAR-CLIP	22012620
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	20371350
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	20371350
MIRT535269	hsa-miR-4295	PAR-CLIP	20371350
MIRT535268	hsa-miR-3666	PAR-CLIP	20371350
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	20371350
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	20371350
MIRT535265	hsa-miR-454-3p	PAR-CLIP	20371350
MIRT535264	hsa-miR-302e	PAR-CLIP	20371350
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	20371350
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	20371350
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	20371350
MIRT535260	hsa-miR-372-3p	PAR-CLIP	20371350
MIRT535259	hsa-miR-373-3p	PAR-CLIP	20371350
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	20371350
MIRT535257	hsa-miR-520e	PAR-CLIP	20371350
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	20371350
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	20371350
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	20371350
MIRT535253	hsa-miR-520b	PAR-CLIP	20371350
MIRT535252	hsa-miR-5692a	PAR-CLIP	20371350
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	20371350
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	20371350
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	20371350
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	20371350
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	20371350
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	20371350
MIRT535245	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	20371350
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	20371350
MIRT535242	hsa-miR-4696	PAR-CLIP	20371350
MIRT566430	hsa-miR-548e-5p	PAR-CLIP	20371350
MIRT566429	hsa-miR-548p	PAR-CLIP	20371350
MIRT566428	hsa-miR-16-1-3p	PAR-CLIP	20371350
MIRT566427	hsa-miR-4746-5p	PAR-CLIP	20371350
MIRT260770	hsa-miR-144-5p	PAR-CLIP	20371350
MIRT566426	hsa-miR-3689a-5p	PAR-CLIP	20371350
MIRT566425	hsa-miR-3689b-5p	PAR-CLIP	20371350
MIRT566424	hsa-miR-3689e	PAR-CLIP	20371350
MIRT566423	hsa-miR-3689f	PAR-CLIP	20371350
MIRT566422	hsa-miR-2355-5p	PAR-CLIP	20371350
MIRT535271	hsa-miR-301a-3p	PAR-CLIP	22012620
MIRT535270	hsa-miR-130b-3p	PAR-CLIP	22012620
MIRT535269	hsa-miR-4295	PAR-CLIP	22012620
MIRT535268	hsa-miR-3666	PAR-CLIP	22012620
MIRT535267	hsa-miR-301b-3p	PAR-CLIP	22012620
MIRT535266	hsa-miR-130a-3p	PAR-CLIP	22012620
MIRT535265	hsa-miR-454-3p	PAR-CLIP	22012620
MIRT535264	hsa-miR-302e	PAR-CLIP	22012620
MIRT535263	hsa-miR-302d-3p	PAR-CLIP	22012620
MIRT535262	hsa-miR-302c-3p	PAR-CLIP	22012620
MIRT535261	hsa-miR-302b-3p	PAR-CLIP	22012620
MIRT535260	hsa-miR-372-3p	PAR-CLIP	22012620
MIRT535259	hsa-miR-373-3p	PAR-CLIP	22012620
MIRT535258	hsa-miR-520a-3p	PAR-CLIP	22012620
MIRT535257	hsa-miR-520e	PAR-CLIP	22012620
MIRT535256	hsa-miR-302a-3p	PAR-CLIP	22012620
MIRT535255	hsa-miR-520d-3p	PAR-CLIP	22012620
MIRT535254	hsa-miR-520c-3p	PAR-CLIP	22012620
MIRT535253	hsa-miR-520b	PAR-CLIP	22012620
MIRT535252	hsa-miR-5692a	PAR-CLIP	22012620
MIRT535251	hsa-miR-3606-3p	PAR-CLIP	22012620
MIRT535250	hsa-miR-513a-3p	PAR-CLIP	22012620
MIRT535249	hsa-miR-513c-3p	PAR-CLIP	22012620
MIRT535248	hsa-miR-519a-3p	PAR-CLIP	22012620
MIRT535247	hsa-miR-519b-3p	PAR-CLIP	22012620
MIRT535246	hsa-miR-519c-3p	PAR-CLIP	22012620
MIRT535245	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT535244	hsa-miR-5009-3p	PAR-CLIP	22012620
MIRT535243	hsa-miR-6845-3p	PAR-CLIP	22012620
MIRT535242	hsa-miR-4696	PAR-CLIP	22012620
MIRT1233078	hsa-let-7a	CLIP-seq
MIRT1233079	hsa-let-7b	CLIP-seq
MIRT1233080	hsa-let-7c	CLIP-seq
MIRT1233081	hsa-let-7d	CLIP-seq
MIRT1233082	hsa-let-7e	CLIP-seq
MIRT1233083	hsa-let-7f	CLIP-seq
MIRT1233084	hsa-let-7g	CLIP-seq
MIRT1233085	hsa-let-7i	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233093	hsa-miR-3613-3p	CLIP-seq
MIRT1233094	hsa-miR-3663-5p	CLIP-seq
MIRT1233095	hsa-miR-376a	CLIP-seq
MIRT1233096	hsa-miR-376b	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233098	hsa-miR-3976	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233100	hsa-miR-4307	CLIP-seq
MIRT1233101	hsa-miR-4328	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT1233104	hsa-miR-4458	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233106	hsa-miR-4500	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233109	hsa-miR-4520a-3p	CLIP-seq
MIRT1233110	hsa-miR-4520b-3p	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233112	hsa-miR-4529-3p	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT1233114	hsa-miR-4719	CLIP-seq
MIRT1233115	hsa-miR-4724-3p	CLIP-seq
MIRT1233116	hsa-miR-495	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233120	hsa-miR-513b	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233126	hsa-miR-98	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT1233130	hsa-miR-148a	CLIP-seq
MIRT1233131	hsa-miR-148b	CLIP-seq
MIRT1233132	hsa-miR-152	CLIP-seq
MIRT1233133	hsa-miR-153	CLIP-seq
MIRT1233134	hsa-miR-1825	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233135	hsa-miR-199a-3p	CLIP-seq
MIRT1233136	hsa-miR-199b-3p	CLIP-seq
MIRT1233137	hsa-miR-19a	CLIP-seq
MIRT1233138	hsa-miR-19b	CLIP-seq
MIRT1233139	hsa-miR-2117	CLIP-seq
MIRT1233140	hsa-miR-2964a-3p	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233143	hsa-miR-302a	CLIP-seq
MIRT1233144	hsa-miR-302b	CLIP-seq
MIRT1233145	hsa-miR-302c	CLIP-seq
MIRT1233146	hsa-miR-302d	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233147	hsa-miR-3129-5p	CLIP-seq
MIRT1233148	hsa-miR-3164	CLIP-seq
MIRT1233149	hsa-miR-3167	CLIP-seq
MIRT1233150	hsa-miR-3179	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT1233152	hsa-miR-3660	CLIP-seq
MIRT1233094	hsa-miR-3663-5p	CLIP-seq
MIRT1233153	hsa-miR-3664-3p	CLIP-seq
MIRT1233154	hsa-miR-372	CLIP-seq
MIRT1233155	hsa-miR-373	CLIP-seq
MIRT1233156	hsa-miR-3908	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233157	hsa-miR-4273	CLIP-seq
MIRT1233158	hsa-miR-448	CLIP-seq
MIRT1233159	hsa-miR-4481	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233160	hsa-miR-4526	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT1233164	hsa-miR-4745-5p	CLIP-seq
MIRT1233165	hsa-miR-4758-5p	CLIP-seq
MIRT1233166	hsa-miR-4766-5p	CLIP-seq
MIRT1233167	hsa-miR-510	CLIP-seq
MIRT1233168	hsa-miR-519a	CLIP-seq
MIRT1233169	hsa-miR-587	CLIP-seq
MIRT1233170	hsa-miR-616	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233171	hsa-miR-873	CLIP-seq
MIRT1233172	hsa-miR-876-5p	CLIP-seq
MIRT1233173	hsa-miR-936	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233148	hsa-miR-3164	CLIP-seq
MIRT1233150	hsa-miR-3179	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT1233114	hsa-miR-4719	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233120	hsa-miR-513b	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT2295711	hsa-miR-1229	CLIP-seq
MIRT2295712	hsa-miR-128	CLIP-seq
MIRT1233128	hsa-miR-130a	CLIP-seq
MIRT1233129	hsa-miR-130b	CLIP-seq
MIRT2295713	hsa-miR-141	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT2295718	hsa-miR-1908	CLIP-seq
MIRT2295719	hsa-miR-1909	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT2295720	hsa-miR-200a	CLIP-seq
MIRT2295721	hsa-miR-2278	CLIP-seq
MIRT1233141	hsa-miR-301a	CLIP-seq
MIRT1233142	hsa-miR-301b	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2295722	hsa-miR-3132	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT1233156	hsa-miR-3908	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT2295724	hsa-miR-4451	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233161	hsa-miR-454	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2295725	hsa-miR-4672	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2295726	hsa-miR-4690-5p	CLIP-seq
MIRT1233163	hsa-miR-4698	CLIP-seq
MIRT2295727	hsa-miR-4717-5p	CLIP-seq
MIRT2295728	hsa-miR-4732-5p	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2295729	hsa-miR-543	CLIP-seq
MIRT2295730	hsa-miR-562	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233170	hsa-miR-616	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2295731	hsa-miR-663	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT1233133	hsa-miR-153	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233140	hsa-miR-2964a-3p	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT1233153	hsa-miR-3664-3p	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT1233158	hsa-miR-448	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT1233167	hsa-miR-510	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT1233171	hsa-miR-873	CLIP-seq
MIRT2456468	hsa-miR-3065-5p	CLIP-seq
MIRT2456469	hsa-miR-515-5p	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT2593625	hsa-miR-1910	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2593626	hsa-miR-3130-3p	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT2593627	hsa-miR-3682-5p	CLIP-seq
MIRT2593628	hsa-miR-3689b	CLIP-seq
MIRT2593629	hsa-miR-3910	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT2593630	hsa-miR-421	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT2593631	hsa-miR-4491	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT2593632	hsa-miR-455-3p	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT2593633	hsa-miR-4657	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2593634	hsa-miR-4699-3p	CLIP-seq
MIRT2593635	hsa-miR-4709-5p	CLIP-seq
MIRT2593636	hsa-miR-4729	CLIP-seq
MIRT2593637	hsa-miR-4768-5p	CLIP-seq
MIRT2593638	hsa-miR-4793-3p	CLIP-seq
MIRT2593639	hsa-miR-494	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2593640	hsa-miR-548ag	CLIP-seq
MIRT2593641	hsa-miR-548ai	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT2593642	hsa-miR-570	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2593643	hsa-miR-767-3p	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT2593644	hsa-miR-935	CLIP-seq
MIRT1233086	hsa-miR-1207-3p	CLIP-seq
MIRT2068605	hsa-miR-1208	CLIP-seq
MIRT1233127	hsa-miR-1228	CLIP-seq
MIRT1233087	hsa-miR-15a	CLIP-seq
MIRT1233088	hsa-miR-15b	CLIP-seq
MIRT1233089	hsa-miR-16	CLIP-seq
MIRT2295714	hsa-miR-181a	CLIP-seq
MIRT2295715	hsa-miR-181b	CLIP-seq
MIRT2295716	hsa-miR-181c	CLIP-seq
MIRT2295717	hsa-miR-181d	CLIP-seq
MIRT1233090	hsa-miR-183	CLIP-seq
MIRT1233091	hsa-miR-195	CLIP-seq
MIRT1233092	hsa-miR-3122	CLIP-seq
MIRT2593626	hsa-miR-3130-3p	CLIP-seq
MIRT1233151	hsa-miR-323-3p	CLIP-seq
MIRT2068606	hsa-miR-3647-3p	CLIP-seq
MIRT2593627	hsa-miR-3682-5p	CLIP-seq
MIRT2593628	hsa-miR-3689b	CLIP-seq
MIRT2593629	hsa-miR-3910	CLIP-seq
MIRT1233097	hsa-miR-3913-5p	CLIP-seq
MIRT2593630	hsa-miR-421	CLIP-seq
MIRT1233099	hsa-miR-424	CLIP-seq
MIRT2295723	hsa-miR-4262	CLIP-seq
MIRT1233102	hsa-miR-4427	CLIP-seq
MIRT1233103	hsa-miR-4432	CLIP-seq
MIRT2593631	hsa-miR-4491	CLIP-seq
MIRT1233105	hsa-miR-4499	CLIP-seq
MIRT1233107	hsa-miR-4501	CLIP-seq
MIRT1233108	hsa-miR-450b-3p	CLIP-seq
MIRT2068607	hsa-miR-452	CLIP-seq
MIRT1233111	hsa-miR-4524	CLIP-seq
MIRT1233162	hsa-miR-4645-3p	CLIP-seq
MIRT2593633	hsa-miR-4657	CLIP-seq
MIRT1233113	hsa-miR-4668-3p	CLIP-seq
MIRT2068608	hsa-miR-4676-3p	CLIP-seq
MIRT2593634	hsa-miR-4699-3p	CLIP-seq
MIRT2593635	hsa-miR-4709-5p	CLIP-seq
MIRT2593636	hsa-miR-4729	CLIP-seq
MIRT2593637	hsa-miR-4768-5p	CLIP-seq
MIRT2593638	hsa-miR-4793-3p	CLIP-seq
MIRT2593639	hsa-miR-494	CLIP-seq
MIRT1233117	hsa-miR-497	CLIP-seq
MIRT1233118	hsa-miR-499-5p	CLIP-seq
MIRT1233119	hsa-miR-503	CLIP-seq
MIRT2593640	hsa-miR-548ag	CLIP-seq
MIRT2593641	hsa-miR-548ai	CLIP-seq
MIRT1233121	hsa-miR-548c-3p	CLIP-seq
MIRT2593642	hsa-miR-570	CLIP-seq
MIRT1233122	hsa-miR-586	CLIP-seq
MIRT1233123	hsa-miR-605	CLIP-seq
MIRT1233124	hsa-miR-646	CLIP-seq
MIRT2593643	hsa-miR-767-3p	CLIP-seq
MIRT1233125	hsa-miR-769-3p	CLIP-seq
MIRT2593644	hsa-miR-935	CLIP-seq

Show/Hide all (23)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA	16162815
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IEA
GO:0000506	Component	Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IPI	16162815
GO:0005515	Function	Protein binding	IPI	8900170, 9463366, 10944123, 16162815, 33961781
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16162815
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008194	Function	UDP-glycosyltransferase activity	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IBA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	IEA
GO:0017176	Function	Phosphatidylinositol N-acetylglucosaminyltransferase activity	TAS	16162815
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

MIM	HGNC	e!Ensembl
311770	8957	ENSG00000165195

P37287

Protein name

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (GlcNAc-PI synthesis protein) (Phosphatidylinositol-glycan biosynthesis class A protein) (PIG-A)

Protein function

Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08288	PIGA	72 → 161	PIGA (GPI anchor biosynthesis)	Family
PF00534	Glycos_transf_1	214 → 371	Glycosyl transferases group 1	Family

Sequence

MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCL
IERGHKVIIVTHAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRE
RVTIIHSHSSFSAMAHDALFHAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNH
IICVSYTSKENTVLRAALNPEIVSVIPNAVDPTDFTPDPFRRHDSITIVVVSRLVYRKGI
DLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQLHDRVRLLGALEHKDVRNVLV
QGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEPSVKSLCEGLE
KAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEI
SETR

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

360

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Likely pathogenic	rs2519326142	RCV003484990
Multiple congenital anomalies-hypotonia-seizures syndrome 2	Likely pathogenic; Pathogenic	rs1922179572, rs1921924356, rs2147714706, rs587777396, rs587777397, rs587777398, rs201119959, rs587777399, rs587777400, rs2147723760, rs2519331818, rs2519331917, rs2519324834, rs1060499625, rs387906726 View all (7 more)	RCV001330748 RCV001775167 RCV001374411 RCV000119283 RCV000119284 RCV000119285 RCV000119286 RCV002281561 RCV000119288 RCV004823022 RCV002281627 RCV003644540 RCV003644686 RCV000445622 RCV000022881 RCV000761517 RCV000812987 RCV000990471 RCV001004672 RCV001067235 RCV001055034 RCV001249628
Neurodevelopmental disorder with epilepsy and hemochromatosis	Pathogenic; Likely pathogenic	rs587777399, rs2147723740, rs587777398	RCV002221150 RCV002221186 RCV002221259
Nonpapillary renal cell carcinoma	Pathogenic; Likely pathogenic	rs2147717286, rs2519326142	RCV005887414 RCV005927747
Paroxysmal nocturnal hemoglobinuria	Pathogenic; Likely pathogenic	rs587776723, rs199422232, rs587776724, rs587776725, rs199422233, rs587776726, rs587776727, rs587776728, rs2147717286, rs786200912	RCV001799594 RCV001799595 RCV001799596 RCV001799597 RCV001799598 RCV001799599 RCV001799600 RCV001799601 RCV001799602 RCV001799603
Paroxysmal nocturnal hemoglobinuria 1	Likely pathogenic; Pathogenic	rs1921924356, rs587777396, rs2147724073, rs2519321757, rs2147717286, rs2519331896, rs2519331925, rs2519331657, rs2519324628, rs1569180100, rs1921817445	RCV001335962 RCV004820831 RCV002249131 RCV003153135 RCV003228230 RCV003228865 RCV003228870 RCV003228871 RCV003228872 RCV002249463 RCV001249628
PIGA-related disorder	Likely pathogenic; Pathogenic	rs2147714706, rs2519331621	RCV005232298 RCV003983820
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2147717286, rs2519326142	RCV005887415 RCV005927748

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs34422225	RCV005896470
Cholangiocarcinoma	Benign	rs34422225	RCV005896483
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs34422225	RCV005896485
Colon adenocarcinoma	Benign	rs34422225	RCV005896469
Colorectal cancer	Benign	rs34422225	RCV005896478
Familial cancer of breast	Benign; Likely benign	rs34422225, rs754561270	RCV005896468 RCV005901859
Familial pancreatic carcinoma	Benign	rs34422225	RCV005896476
Hepatocellular carcinoma	Benign	rs34422225	RCV005896471
Intellectual disability	Likely benign; Uncertain significance	rs866734779, rs1922166519, rs1464500489	RCV001252346 RCV001252345 RCV001257697
Lymphoma	Benign	rs34422225	RCV005896479
Malignant lymphoma, large B-cell, diffuse	Benign	rs34422225	RCV005896477
Malignant tumor of esophagus	Benign	rs34422225	RCV005896472
Melanoma	Benign	rs34422225	RCV005896482
Neurodevelopmental abnormality	Uncertain significance	rs1064796260	RCV005241243
Ovarian cancer	Benign	rs34422225	RCV005896474
See cases	Uncertain significance	rs2147717729	RCV002253043
Thymoma	Benign	rs34422225	RCV005896481
Uterine carcinosarcoma	Benign	rs34422225	RCV005896480
Uterine corpus endometrial carcinoma	Benign	rs34422225	RCV005896484
Uveal melanoma	Benign	rs34422225	RCV005896475

Show/Hide Text Mining Associations (59)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	10086790
Abruzzo Erickson syndrome	Associate	29974678
Adenocarcinoma	Associate	30914682, 37006185
Anemia Aplastic	Associate	10086790, 10233366, 12424196, 22315493, 25800665, 26132940, 8541558, 8619404, 9163589
Barrett Esophagus	Associate	30914682
Body Dysmorphic Disorders	Associate	25885527
Bone Marrow Diseases	Associate	12130519
Bone Marrow Failure Disorders	Associate	11750098, 19118373, 19656154
Brain Diseases	Associate	29656098
CD59 Deficiency	Associate	10086790
Central Nervous System Diseases	Associate	25885527
Congenital Abnormalities	Associate	24259288
Congenital Disorders of Glycosylation	Associate	10086790, 16940417
Contracture	Associate	25885527
COVID 19	Associate	36143962
Death	Associate	24113066
Developmental Disabilities	Associate	26993267
Dyslipidemias	Associate	25885527
Epilepsy	Associate	32220244
Fibrosis	Associate	28208683
Glycosylphosphatidylinositol deficiency	Associate	22315493
Growth Disorders	Associate	24113066
Hearing Loss	Associate	25885527
Hearing Loss Mixed Conductive Sensorineural	Associate	25885527
Heart Arrest	Associate	25885527
Hematologic Diseases	Associate	9238050
Hemoglobinuria Paroxysmal	Associate	10086790, 10220445, 10233366, 10233427, 10520035, 10974022, 11301179, 11378665, 11703352, 11750098, 11756148, 11823033, 11929762, 12037021, 12130519 View all (67 more)
Hemolysis	Associate	16940417, 8695823
Hereditary renal agenesis	Associate	11750098
Immunologic Deficiency Syndromes	Inhibit	25885527
Immunologic Deficiency Syndromes	Associate	25885527, 29974678
Inflammation	Associate	15458433
Intellectual Disability	Associate	23561847
Intervertebral disc disease	Associate	25885527
Iron Overload	Associate	24259288
Leukemia	Associate	12130519, 16195329
Limbal Stem Cell Deficiency	Associate	9266937
Liver Failure	Associate	25885527
Maple Syrup Urine Disease	Associate	25885527
Mental Retardation X Linked 1	Associate	25885527
Mitochondrial complex I deficiency	Associate	25885527
Muscle Hypotonia	Associate	23561847, 25885527
Myelodysplastic Syndromes	Associate	19118373, 22315493, 9695961
Myopathy Mitochondrial Lethal Infantile	Associate	24259288
Neoplasms	Associate	25244093
Neoplasms Plasma Cell	Associate	20060400
Nervous System Diseases	Associate	24259288
Neurodegenerative Diseases	Associate	24259288
Oculocerebrocutaneous syndrome	Associate	24259288
Oculocerebrorenal Syndrome	Associate	9233558
Pancreatic Neoplasms	Associate	37006185
Progressive hearing loss stapes fixation	Associate	29656098
Renal Insufficiency	Associate	18596225
Seizures	Associate	23561847, 24113066, 24259288, 25885527, 31618474
Spasms Infantile	Associate	25885527, 32220244
Sveinsson Chorioretinal Atrophy	Associate	21442308
Thakker Donnai syndrome	Associate	25885527
Thrombocytopenia	Associate	9163589
Venous Thrombosis	Associate	12037021

PIGA (phosphatidylinositol glycan anchor biosynthesis class A)