AGPS (alkylglycerone phosphate synthase)

Gene

• Entrez ID: 8540
• Gene name: Alkylglycerone phosphate synthase
• Gene symbol: AGPS
• Synonyms (NCBI Gene): ADAP-S, ADAS, ADHAPS, ADPS, ALDHPSY, RCDP3
• Chromosome: 2
• Chromosome location: 2q31.2
• Summary: This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs59535792	ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 3 prime UTR variant
rs121434411	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434412	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs121434413	T>C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs200039061	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs387907214	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs755884284	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027666	hsa-miR-98-5p	Microarray	19088304
MIRT509995	hsa-miR-8485	HITS-CLIP	21572407
MIRT509996	hsa-miR-4643	HITS-CLIP	21572407
MIRT509992	hsa-miR-5689	HITS-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519035	hsa-miR-494-3p	HITS-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT689051	hsa-miR-1825	HITS-CLIP	23313552
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT519040	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT519039	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT519038	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT519037	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT519036	hsa-miR-603	HITS-CLIP	23824327
MIRT509996	hsa-miR-4643	HITS-CLIP	23824327
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509992	hsa-miR-5689	HITS-CLIP	23824327
MIRT519034	hsa-miR-3941	HITS-CLIP	23824327
MIRT519033	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT660819	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660818	hsa-miR-4261	HITS-CLIP	23824327
MIRT660817	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660816	hsa-miR-3978	HITS-CLIP	23824327
MIRT660815	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT519038	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT519037	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT519036	hsa-miR-603	HITS-CLIP	23824327
MIRT509996	hsa-miR-4643	HITS-CLIP	23824327
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509992	hsa-miR-5689	HITS-CLIP	23824327
MIRT519034	hsa-miR-3941	HITS-CLIP	23824327
MIRT519033	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT509996	hsa-miR-4643	PAR-CLIP	23446348
MIRT509992	hsa-miR-5689	PAR-CLIP	23446348
MIRT519040	hsa-miR-145-5p	PAR-CLIP	23446348
MIRT519039	hsa-miR-5195-3p	PAR-CLIP	23446348
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT519038	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT519037	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT519036	hsa-miR-603	PAR-CLIP	23446348
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT519035	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT519034	hsa-miR-3941	PAR-CLIP	23446348
MIRT519033	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT509996	hsa-miR-4643	PAR-CLIP	23446348
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509992	hsa-miR-5689	PAR-CLIP	23446348
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT447641	hsa-miR-3125	PAR-CLIP	22100165
MIRT447640	hsa-miR-3916	PAR-CLIP	22100165
MIRT447639	hsa-miR-6859-5p	PAR-CLIP	22100165
MIRT447638	hsa-miR-4635	PAR-CLIP	22100165
MIRT447637	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT447636	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT447635	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT509995	hsa-miR-8485	HITS-CLIP	21572407
MIRT509996	hsa-miR-4643	HITS-CLIP	21572407
MIRT509992	hsa-miR-5689	HITS-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT519035	hsa-miR-494-3p	HITS-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23313552
MIRT689051	hsa-miR-1825	HITS-CLIP	23313552
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23313552
MIRT519040	hsa-miR-145-5p	HITS-CLIP	23313552
MIRT519039	hsa-miR-5195-3p	HITS-CLIP	23313552
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23313552
MIRT519038	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT519037	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT519036	hsa-miR-603	HITS-CLIP	23824327
MIRT509996	hsa-miR-4643	HITS-CLIP	23824327
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509992	hsa-miR-5689	HITS-CLIP	23824327
MIRT519034	hsa-miR-3941	HITS-CLIP	23824327
MIRT519033	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT660819	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT660818	hsa-miR-4261	HITS-CLIP	23824327
MIRT660817	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT660816	hsa-miR-3978	HITS-CLIP	23824327
MIRT660815	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT519038	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT519037	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT519036	hsa-miR-603	HITS-CLIP	23824327
MIRT509996	hsa-miR-4643	HITS-CLIP	23824327
MIRT509993	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT509992	hsa-miR-5689	HITS-CLIP	23824327
MIRT519034	hsa-miR-3941	HITS-CLIP	23824327
MIRT519033	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT509991	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT519032	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	21572407
MIRT509996	hsa-miR-4643	PAR-CLIP	21572407
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT509992	hsa-miR-5689	PAR-CLIP	21572407
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT509996	hsa-miR-4643	PAR-CLIP	23446348
MIRT509992	hsa-miR-5689	PAR-CLIP	23446348
MIRT519040	hsa-miR-145-5p	PAR-CLIP	23446348
MIRT519039	hsa-miR-5195-3p	PAR-CLIP	23446348
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT519038	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT519037	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT519036	hsa-miR-603	PAR-CLIP	23446348
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT519035	hsa-miR-494-3p	PAR-CLIP	23446348
MIRT519034	hsa-miR-3941	PAR-CLIP	23446348
MIRT519033	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT519032	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT509995	hsa-miR-8485	PAR-CLIP	23446348
MIRT509996	hsa-miR-4643	PAR-CLIP	23446348
MIRT509994	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT509993	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT509992	hsa-miR-5689	PAR-CLIP	23446348
MIRT509991	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT447641	hsa-miR-3125	PAR-CLIP	22100165
MIRT447640	hsa-miR-3916	PAR-CLIP	22100165
MIRT447639	hsa-miR-6859-5p	PAR-CLIP	22100165
MIRT447638	hsa-miR-4635	PAR-CLIP	22100165
MIRT447637	hsa-miR-7158-3p	PAR-CLIP	22100165
MIRT447636	hsa-miR-203b-3p	PAR-CLIP	22100165
MIRT447635	hsa-miR-4709-3p	PAR-CLIP	22100165
MIRT772961	hsa-miR-1264	CLIP-seq
MIRT772962	hsa-miR-1270	CLIP-seq
MIRT772963	hsa-miR-1305	CLIP-seq
MIRT772964	hsa-miR-139-5p	CLIP-seq
MIRT772965	hsa-miR-1910	CLIP-seq
MIRT772966	hsa-miR-198	CLIP-seq
MIRT772967	hsa-miR-200b	CLIP-seq
MIRT772968	hsa-miR-200c	CLIP-seq
MIRT772969	hsa-miR-3159	CLIP-seq
MIRT772970	hsa-miR-3662	CLIP-seq
MIRT772971	hsa-miR-3669	CLIP-seq
MIRT772972	hsa-miR-3671	CLIP-seq
MIRT772973	hsa-miR-3910	CLIP-seq
MIRT772974	hsa-miR-3975	CLIP-seq
MIRT772975	hsa-miR-410	CLIP-seq
MIRT772976	hsa-miR-4289	CLIP-seq
MIRT772977	hsa-miR-429	CLIP-seq
MIRT772978	hsa-miR-4484	CLIP-seq
MIRT772979	hsa-miR-4531	CLIP-seq
MIRT772980	hsa-miR-4663	CLIP-seq
MIRT772981	hsa-miR-4698	CLIP-seq
MIRT772982	hsa-miR-4735-5p	CLIP-seq
MIRT772983	hsa-miR-4773	CLIP-seq
MIRT772984	hsa-miR-494	CLIP-seq
MIRT772985	hsa-miR-499-3p	CLIP-seq
MIRT772986	hsa-miR-499a-3p	CLIP-seq
MIRT772987	hsa-miR-548an	CLIP-seq
MIRT772988	hsa-miR-579	CLIP-seq
MIRT772989	hsa-miR-583	CLIP-seq
MIRT772990	hsa-miR-586	CLIP-seq
MIRT772991	hsa-miR-599	CLIP-seq
MIRT772992	hsa-miR-607	CLIP-seq
MIRT772993	hsa-miR-620	CLIP-seq
MIRT772994	hsa-miR-656	CLIP-seq
MIRT772995	hsa-miR-664	CLIP-seq
MIRT1545189	hsa-miR-548c-3p	CLIP-seq
MIRT1928176	hsa-miR-141	CLIP-seq
MIRT1928177	hsa-miR-142-5p	CLIP-seq
MIRT1928178	hsa-miR-186	CLIP-seq
MIRT1928179	hsa-miR-200a	CLIP-seq
MIRT1928180	hsa-miR-320a	CLIP-seq
MIRT1928181	hsa-miR-320b	CLIP-seq
MIRT1928182	hsa-miR-320c	CLIP-seq
MIRT1928183	hsa-miR-320d	CLIP-seq
MIRT1928184	hsa-miR-340	CLIP-seq
MIRT1928185	hsa-miR-377	CLIP-seq
MIRT1928186	hsa-miR-4272	CLIP-seq
MIRT1928187	hsa-miR-4282	CLIP-seq
MIRT1928188	hsa-miR-4301	CLIP-seq
MIRT1928189	hsa-miR-4325	CLIP-seq
MIRT1928190	hsa-miR-4429	CLIP-seq
MIRT1928191	hsa-miR-4738-3p	CLIP-seq
MIRT1928192	hsa-miR-491-3p	CLIP-seq
MIRT1928193	hsa-miR-548aa	CLIP-seq
MIRT772990	hsa-miR-586	CLIP-seq
MIRT772991	hsa-miR-599	CLIP-seq
MIRT1928194	hsa-miR-646	CLIP-seq
MIRT2168889	hsa-miR-1226	CLIP-seq
MIRT772961	hsa-miR-1264	CLIP-seq
MIRT2168890	hsa-miR-1289	CLIP-seq
MIRT772964	hsa-miR-139-5p	CLIP-seq
MIRT1928177	hsa-miR-142-5p	CLIP-seq
MIRT772965	hsa-miR-1910	CLIP-seq
MIRT2168891	hsa-miR-205	CLIP-seq
MIRT2168892	hsa-miR-2110	CLIP-seq
MIRT2168893	hsa-miR-27a	CLIP-seq
MIRT2168894	hsa-miR-27b	CLIP-seq
MIRT2168895	hsa-miR-29a	CLIP-seq
MIRT2168896	hsa-miR-29b	CLIP-seq
MIRT2168897	hsa-miR-29c	CLIP-seq
MIRT2168898	hsa-miR-3150a-3p	CLIP-seq
MIRT2168899	hsa-miR-3150b-3p	CLIP-seq
MIRT2168900	hsa-miR-3156-3p	CLIP-seq
MIRT2168901	hsa-miR-3163	CLIP-seq
MIRT2168902	hsa-miR-3175	CLIP-seq
MIRT2168903	hsa-miR-3200-5p	CLIP-seq
MIRT2168904	hsa-miR-323-3p	CLIP-seq
MIRT2168905	hsa-miR-338-5p	CLIP-seq
MIRT1928184	hsa-miR-340	CLIP-seq
MIRT2168906	hsa-miR-3668	CLIP-seq
MIRT772972	hsa-miR-3671	CLIP-seq
MIRT2168907	hsa-miR-425	CLIP-seq
MIRT2168908	hsa-miR-4264	CLIP-seq
MIRT1928186	hsa-miR-4272	CLIP-seq
MIRT1928188	hsa-miR-4301	CLIP-seq
MIRT2168909	hsa-miR-4517	CLIP-seq
MIRT2168910	hsa-miR-455-3p	CLIP-seq
MIRT2168911	hsa-miR-4668-3p	CLIP-seq
MIRT2168912	hsa-miR-4680-5p	CLIP-seq
MIRT2168913	hsa-miR-4717-3p	CLIP-seq
MIRT2168914	hsa-miR-4761-5p	CLIP-seq
MIRT2168915	hsa-miR-4762-3p	CLIP-seq
MIRT772983	hsa-miR-4773	CLIP-seq
MIRT2168916	hsa-miR-4784	CLIP-seq
MIRT2168917	hsa-miR-513a-5p	CLIP-seq
MIRT1928193	hsa-miR-548aa	CLIP-seq
MIRT2168918	hsa-miR-582-5p	CLIP-seq
MIRT772992	hsa-miR-607	CLIP-seq
MIRT2168919	hsa-miR-634	CLIP-seq
MIRT2168920	hsa-miR-642b	CLIP-seq
MIRT2168921	hsa-miR-939	CLIP-seq
MIRT2384011	hsa-miR-2355-5p	CLIP-seq
MIRT2168905	hsa-miR-338-5p	CLIP-seq
MIRT2384012	hsa-miR-4267	CLIP-seq
MIRT2168920	hsa-miR-642b	CLIP-seq
MIRT2426093	hsa-miR-25	CLIP-seq
MIRT2426094	hsa-miR-32	CLIP-seq
MIRT2426095	hsa-miR-331-5p	CLIP-seq
MIRT2426096	hsa-miR-33a	CLIP-seq
MIRT2426097	hsa-miR-33b	CLIP-seq
MIRT2426098	hsa-miR-363	CLIP-seq
MIRT2426099	hsa-miR-3653	CLIP-seq
MIRT2426100	hsa-miR-3658	CLIP-seq
MIRT2426101	hsa-miR-367	CLIP-seq
MIRT2426102	hsa-miR-4678	CLIP-seq
MIRT2426103	hsa-miR-92a	CLIP-seq
MIRT2426104	hsa-miR-92b	CLIP-seq
MIRT2435275	hsa-miR-3162-5p	CLIP-seq
MIRT772970	hsa-miR-3662	CLIP-seq
MIRT2435275	hsa-miR-3162-5p	CLIP-seq
MIRT772970	hsa-miR-3662	CLIP-seq
MIRT1928185	hsa-miR-377	CLIP-seq
MIRT2443374	hsa-miR-513a-3p	CLIP-seq
MIRT2168918	hsa-miR-582-5p	CLIP-seq
MIRT2471439	hsa-miR-1237	CLIP-seq
MIRT2471440	hsa-miR-1248	CLIP-seq
MIRT772961	hsa-miR-1264	CLIP-seq
MIRT772962	hsa-miR-1270	CLIP-seq
MIRT2471441	hsa-miR-132	CLIP-seq
MIRT2471442	hsa-miR-1324	CLIP-seq
MIRT2471443	hsa-miR-203	CLIP-seq
MIRT2471444	hsa-miR-2113	CLIP-seq
MIRT2471445	hsa-miR-212	CLIP-seq
MIRT2471446	hsa-miR-218	CLIP-seq
MIRT2471447	hsa-miR-2277-3p	CLIP-seq
MIRT2471448	hsa-miR-300	CLIP-seq
MIRT2471449	hsa-miR-3074-3p	CLIP-seq
MIRT2471450	hsa-miR-3117-3p	CLIP-seq
MIRT2471451	hsa-miR-3117-5p	CLIP-seq
MIRT2471452	hsa-miR-3137	CLIP-seq
MIRT2471453	hsa-miR-3169	CLIP-seq
MIRT2471454	hsa-miR-3171	CLIP-seq
MIRT2471455	hsa-miR-3182	CLIP-seq
MIRT2168903	hsa-miR-3200-5p	CLIP-seq
MIRT2168904	hsa-miR-323-3p	CLIP-seq
MIRT2471456	hsa-miR-34c-3p	CLIP-seq
MIRT2471457	hsa-miR-361-5p	CLIP-seq
MIRT2426099	hsa-miR-3653	CLIP-seq
MIRT2426100	hsa-miR-3658	CLIP-seq
MIRT772970	hsa-miR-3662	CLIP-seq
MIRT2471458	hsa-miR-3667-3p	CLIP-seq
MIRT772972	hsa-miR-3671	CLIP-seq
MIRT2471459	hsa-miR-381	CLIP-seq
MIRT2471460	hsa-miR-382	CLIP-seq
MIRT772973	hsa-miR-3910	CLIP-seq
MIRT2471461	hsa-miR-3920	CLIP-seq
MIRT1928187	hsa-miR-4282	CLIP-seq
MIRT2471462	hsa-miR-4291	CLIP-seq
MIRT2471463	hsa-miR-4305	CLIP-seq
MIRT772978	hsa-miR-4484	CLIP-seq
MIRT2471464	hsa-miR-4495	CLIP-seq
MIRT2471465	hsa-miR-4501	CLIP-seq
MIRT2471466	hsa-miR-4504	CLIP-seq
MIRT772979	hsa-miR-4531	CLIP-seq
MIRT2471467	hsa-miR-4659a-3p	CLIP-seq
MIRT2471468	hsa-miR-4659b-3p	CLIP-seq
MIRT2471469	hsa-miR-4666-3p	CLIP-seq
MIRT2471470	hsa-miR-4704-5p	CLIP-seq
MIRT2471471	hsa-miR-4712-3p	CLIP-seq
MIRT2471472	hsa-miR-4718	CLIP-seq
MIRT772982	hsa-miR-4735-5p	CLIP-seq
MIRT2471473	hsa-miR-4759	CLIP-seq
MIRT2471474	hsa-miR-483-3p	CLIP-seq
MIRT1928192	hsa-miR-491-3p	CLIP-seq
MIRT772984	hsa-miR-494	CLIP-seq
MIRT2471475	hsa-miR-500a	CLIP-seq
MIRT2471476	hsa-miR-501-5p	CLIP-seq
MIRT2471477	hsa-miR-542-3p	CLIP-seq
MIRT2471478	hsa-miR-544	CLIP-seq
MIRT2471479	hsa-miR-545	CLIP-seq
MIRT772987	hsa-miR-548an	CLIP-seq
MIRT2471480	hsa-miR-549	CLIP-seq
MIRT2471481	hsa-miR-552	CLIP-seq
MIRT772990	hsa-miR-586	CLIP-seq
MIRT772993	hsa-miR-620	CLIP-seq
MIRT2471482	hsa-miR-624	CLIP-seq
MIRT2471483	hsa-miR-651	CLIP-seq
MIRT2471484	hsa-miR-759	CLIP-seq
MIRT2471485	hsa-miR-767-3p	CLIP-seq
MIRT2471439	hsa-miR-1237	CLIP-seq
MIRT2471440	hsa-miR-1248	CLIP-seq
MIRT772961	hsa-miR-1264	CLIP-seq
MIRT772962	hsa-miR-1270	CLIP-seq
MIRT2674737	hsa-miR-1292	CLIP-seq
MIRT2471443	hsa-miR-203	CLIP-seq
MIRT2471444	hsa-miR-2113	CLIP-seq
MIRT2471446	hsa-miR-218	CLIP-seq
MIRT2471447	hsa-miR-2277-3p	CLIP-seq
MIRT2674738	hsa-miR-2278	CLIP-seq
MIRT2674739	hsa-miR-24	CLIP-seq
MIRT2471448	hsa-miR-300	CLIP-seq
MIRT2471450	hsa-miR-3117-3p	CLIP-seq
MIRT2674740	hsa-miR-3122	CLIP-seq
MIRT2471452	hsa-miR-3137	CLIP-seq
MIRT2674741	hsa-miR-3160-5p	CLIP-seq
MIRT2471453	hsa-miR-3169	CLIP-seq
MIRT2471454	hsa-miR-3171	CLIP-seq
MIRT2471455	hsa-miR-3182	CLIP-seq
MIRT2168903	hsa-miR-3200-5p	CLIP-seq
MIRT2168904	hsa-miR-323-3p	CLIP-seq
MIRT2471456	hsa-miR-34c-3p	CLIP-seq
MIRT2471457	hsa-miR-361-5p	CLIP-seq
MIRT772970	hsa-miR-3662	CLIP-seq
MIRT2471458	hsa-miR-3667-3p	CLIP-seq
MIRT772972	hsa-miR-3671	CLIP-seq
MIRT2471459	hsa-miR-381	CLIP-seq
MIRT772973	hsa-miR-3910	CLIP-seq
MIRT2674742	hsa-miR-3913-5p	CLIP-seq
MIRT2471461	hsa-miR-3920	CLIP-seq
MIRT2674743	hsa-miR-4263	CLIP-seq
MIRT1928187	hsa-miR-4282	CLIP-seq
MIRT2674744	hsa-miR-4284	CLIP-seq
MIRT2471462	hsa-miR-4291	CLIP-seq
MIRT2471463	hsa-miR-4305	CLIP-seq
MIRT2674745	hsa-miR-4471	CLIP-seq
MIRT2674746	hsa-miR-4493	CLIP-seq
MIRT2471464	hsa-miR-4495	CLIP-seq
MIRT772979	hsa-miR-4531	CLIP-seq
MIRT2471467	hsa-miR-4659a-3p	CLIP-seq
MIRT2471468	hsa-miR-4659b-3p	CLIP-seq
MIRT2471469	hsa-miR-4666-3p	CLIP-seq
MIRT2471470	hsa-miR-4704-5p	CLIP-seq
MIRT2471471	hsa-miR-4712-3p	CLIP-seq
MIRT2674747	hsa-miR-4717-5p	CLIP-seq
MIRT2471472	hsa-miR-4718	CLIP-seq
MIRT772982	hsa-miR-4735-5p	CLIP-seq
MIRT2471473	hsa-miR-4759	CLIP-seq
MIRT2674748	hsa-miR-4786-3p	CLIP-seq
MIRT2674749	hsa-miR-4799-5p	CLIP-seq
MIRT2471474	hsa-miR-483-3p	CLIP-seq
MIRT1928192	hsa-miR-491-3p	CLIP-seq
MIRT772984	hsa-miR-494	CLIP-seq
MIRT2471475	hsa-miR-500a	CLIP-seq
MIRT2471478	hsa-miR-544	CLIP-seq
MIRT2471479	hsa-miR-545	CLIP-seq
MIRT772987	hsa-miR-548an	CLIP-seq
MIRT2674750	hsa-miR-548n	CLIP-seq
MIRT2471480	hsa-miR-549	CLIP-seq
MIRT2471481	hsa-miR-552	CLIP-seq
MIRT2674751	hsa-miR-576-5p	CLIP-seq
MIRT772988	hsa-miR-579	CLIP-seq
MIRT772990	hsa-miR-586	CLIP-seq
MIRT2674752	hsa-miR-600	CLIP-seq
MIRT772993	hsa-miR-620	CLIP-seq
MIRT2471482	hsa-miR-624	CLIP-seq
MIRT2471483	hsa-miR-651	CLIP-seq
MIRT2471484	hsa-miR-759	CLIP-seq
MIRT2471485	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005777	Component	Peroxisome	IBA
GO:0005777	Component	Peroxisome	IDA	9553082, 10415121
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0008609	Function	Alkylglycerone-phosphate synthase activity	IBA
GO:0008609	Function	Alkylglycerone-phosphate synthase activity	IDA	8399344, 9553082, 10415121
GO:0008609	Function	Alkylglycerone-phosphate synthase activity	IEA
GO:0008610	Process	Lipid biosynthetic process	IBA
GO:0008610	Process	Lipid biosynthetic process	IDA	9553082
GO:0008610	Process	Lipid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0071949	Function	FAD binding	IEA
GO:0071949	Function	FAD binding	ISS

Other IDs

• MIM: 603051
• HGNC: 327
• e!Ensembl: ENSG00000018510

Protein

• UniProt ID: O00116
• Protein name: Alkyldihydroxyacetonephosphate synthase, peroxisomal (Alkyl-DHAP synthase) (EC 2.5.1.26) (Aging-associated gene 5 protein) (Alkylglycerone-phosphate synthase)
• Protein function: Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. alkyl-dihydroxyacetonephosphate (alkyl-DHAP), in the pathway of ether lipid
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01565	FAD_binding_4	206 → 348	FAD binding domain	Domain
  PF02913	FAD-oxidase_C	384 → 657	FAD linked oxidases, C-terminal domain	Domain

• Sequence:

  MAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKA
  RRAASAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPL
  SGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSDTPPSVVNEDFLHDLKETNISYSQEAD
  DRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTS
  VSYGLMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQLKESGYCTGH
  EPDSLEFSTVGGWVSTRASGMKKNIYGNIEDLVVHIKMVTPRGIIEKSCQGPRMSTGPDI
  HHFIMGSEGTLGVITEATIKIRPVPEYQKYGSVAFPNFEQGVACLREIAKQRCAPASIRL
  MDNKQFQFGHALKPQVSSIFTSFLDGLKKFYITKFKGFDPNQLSVATLLFEGDREKVLQH
  EKQVYDIAAKFGGLAAGEDNGQRGYLLTYVIAYIRDLALEYYVLGESFETSAPWDRVVDL
  CRNVKERITRECKEKGVQFAPFSTCRVTQTYDAGACIYFYFAFNYRGISDPLTVFEQTEA
  AAREEILANGGSLSHHHGVGKLRKQWLKESISDVGFGMLKSVKEYVDPNNIFGNRNLL

• Sequence length: 658

Pathways

KEGG:

Ether lipid metabolism
Metabolic pathways
Peroxisome

Reactome:

Plasmalogen biosynthesis
Peroxisomal protein import

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Rhizomelic chondrodysplasia punctata	Likely pathogenic	rs121434412, rs2468138958	RCV006263620 RCV003230992	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata type 3	Likely pathogenic; Pathogenic	rs2105675391, rs121434411, rs121434412, rs121434413, rs1685908703, rs2468138852, rs2468129774, rs2468548073, rs2468129580, rs2468548491, rs2468548402, rs2468525239, rs1686427549, rs1345538545, rs2468125860, rs2468557012, rs1295954187, rs2468547973, rs2468548358, rs387907214, rs1686426425	RCV001449736 RCV000007024 RCV000007025 RCV000007026 RCV003459981 RCV003459985 RCV003459986 RCV003459987 RCV003475589 RCV003466240 RCV003467841 RCV003459994 RCV003459996 RCV003467859 RCV003467863 RCV003460002 RCV003467868 RCV004575687 RCV004575691 RCV000029144 RCV003469364	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AGPS-related disorder	Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	28859660		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	28859660		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	30561868		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	24086677, 30355322		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24815474, 25755779, 37652516	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	24086677, 30355322		★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata Rhizomelic	Chondrodysplasia	Pubtator	25439727, 34110102	Associate	★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	CLINGEN_DG	10215861, 11152660, 21353609, 21990100, 24849933, 25197626, 7096336, 8685243, 9090381, 9114014, 9553082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	20583171, 21990100, 25439727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognitive Dysfunction	Cognition disorder	Pubtator	30149449	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Generalized Lipodystrophy Type 1	Congenital Lipodystrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of femur	Short femur	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23563246, 29966202, 30129411, 31517028		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	24815474, 25755779	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25542233, 29805677		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	31839612		★☆☆☆☆ Found in Text Mining only
Hypogammaglobulinemia	Hypogammaglobulinemia	BEFREE	30639166		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	15627759, 20040248, 24450890, 28045051, 28331953, 29365294, 29566598, 29710700, 29966202, 31347192		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29805677		★☆☆☆☆ Found in Text Mining only
Lymphopenia	Lymphopenia	BEFREE	30639166		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	29731907		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29731907, 29805677		★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22534009, 23563246, 24371799, 26868820, 29029554, 29110615, 29263656, 29394903, 29566598, 29966202, 30755255, 30906244, 31347192, 31388034		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25542233		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23563246, 29966202, 30129411, 31517028		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38200609	Inhibit	★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 2	Rhizomelic chondrodysplasia punctata	Pubtator	10972423	Associate	★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 3	Rhizomelic Chondrodysplasia Punctata	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata	GENOMICS_ENGLAND_DG	11152660, 24849933, 27604308		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata	UNIPROT_DG	11152660, 21990100, 9553082		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata	ORPHANET_DG	21990100		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 3	Rhizomelic chondrodysplasia punctata	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	29731907		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	29731907		★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	30317186		★☆☆☆☆ Found in Text Mining only