DEGS1 (delta 4-desaturase, sphingolipid 1)

Gene

• Entrez ID: 8560
• Gene name: Delta 4-desaturase, sphingolipid 1
• Gene symbol: DEGS1
• Synonyms (NCBI Gene): DEGS, DEGS-1, DES1, Des-1, FADS7, HLD18, MIG15, MLD
• Chromosome: 1
• Chromosome location: 1q42.11
• Summary: This gene encodes a member of the membrane fatty acid desaturase family which is responsible for inserting double bonds into specific positions in fatty acids. This protein contains three His-containing consensus motifs that are characteristic of a group

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs768180196	A>G	Pathogenic	Missense variant, coding sequence variant
rs932183417	C>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1280845604	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1367958450	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1382083552	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1558209947	TT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558210191	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1558211070	C>T	Likely-pathogenic	3 prime UTR variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020768	hsa-miR-155-5p	Proteomics	18668040
MIRT024553	hsa-miR-215-5p	Microarray	19074876
MIRT024553	hsa-miR-215-5p	Microarray	19074876
MIRT026493	hsa-miR-192-5p	Microarray	19074876
MIRT052511	hsa-let-7a-5p	CLASH	23622248
MIRT050636	hsa-miR-19b-3p	CLASH	23622248
MIRT047375	hsa-miR-34a-5p	CLASH	23622248
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679288	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT679287	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679286	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT677162	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT677161	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT677160	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT677159	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT677158	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT677157	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT677156	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT677155	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT677154	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT677153	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT677152	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT677151	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT677150	hsa-miR-302e	HITS-CLIP	23824327
MIRT677149	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT677148	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT677147	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT677146	hsa-miR-520b	HITS-CLIP	23824327
MIRT677145	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT677144	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT677143	hsa-miR-520e	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677142	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT677141	hsa-miR-520h	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT271531	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT560760	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT560759	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT271530	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT271528	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT271520	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT271526	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT271525	hsa-miR-1273f	PAR-CLIP	23446348
MIRT517621	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT517620	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT517619	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT517617	hsa-miR-548s	PAR-CLIP	23446348
MIRT517616	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT517615	hsa-miR-588	PAR-CLIP	23446348
MIRT517614	hsa-miR-4435	PAR-CLIP	23446348
MIRT517613	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT517612	hsa-miR-3170	PAR-CLIP	23446348
MIRT517611	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT517610	hsa-miR-5096	PAR-CLIP	23446348
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT679288	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT679287	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT679286	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT677162	hsa-miR-106a-5p	HITS-CLIP	23824327
MIRT677161	hsa-miR-106b-5p	HITS-CLIP	23824327
MIRT677160	hsa-miR-17-5p	HITS-CLIP	23824327
MIRT677159	hsa-miR-20a-5p	HITS-CLIP	23824327
MIRT677158	hsa-miR-20b-5p	HITS-CLIP	23824327
MIRT677157	hsa-miR-519d-3p	HITS-CLIP	23824327
MIRT677156	hsa-miR-526b-3p	HITS-CLIP	23824327
MIRT677155	hsa-miR-93-5p	HITS-CLIP	23824327
MIRT677154	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT677153	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT677152	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT677151	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT677150	hsa-miR-302e	HITS-CLIP	23824327
MIRT677149	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT677148	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT677147	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT677146	hsa-miR-520b	HITS-CLIP	23824327
MIRT677145	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT677144	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT677143	hsa-miR-520e	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT677142	hsa-miR-520g-3p	HITS-CLIP	23824327
MIRT677141	hsa-miR-520h	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT673552	hsa-miR-6813-3p	HITS-CLIP	23824327
MIRT673551	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT673550	hsa-miR-764	HITS-CLIP	23824327
MIRT673549	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT673548	hsa-miR-186-3p	HITS-CLIP	23824327
MIRT673547	hsa-miR-1224-3p	HITS-CLIP	23824327
MIRT673546	hsa-miR-212-5p	HITS-CLIP	23824327
MIRT673545	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT673544	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT673543	hsa-miR-6790-3p	HITS-CLIP	23824327
MIRT673542	hsa-miR-6821-3p	HITS-CLIP	23824327
MIRT673541	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT673540	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT673539	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT673538	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT673537	hsa-miR-640	HITS-CLIP	23824327
MIRT673536	hsa-miR-6878-3p	HITS-CLIP	23824327
MIRT271531	hsa-miR-4662a-3p	PAR-CLIP	20371350
MIRT560760	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT560759	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT271530	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT271528	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT271520	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT271526	hsa-miR-6890-5p	PAR-CLIP	23446348
MIRT271525	hsa-miR-1273f	PAR-CLIP	23446348
MIRT517621	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT517620	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT517619	hsa-miR-6832-5p	PAR-CLIP	23446348
MIRT517618	hsa-miR-411-5p	PAR-CLIP	23446348
MIRT517617	hsa-miR-548s	PAR-CLIP	23446348
MIRT517616	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT517615	hsa-miR-588	PAR-CLIP	23446348
MIRT517614	hsa-miR-4435	PAR-CLIP	23446348
MIRT517613	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT517612	hsa-miR-3170	PAR-CLIP	23446348
MIRT517611	hsa-miR-6855-5p	PAR-CLIP	23446348
MIRT517610	hsa-miR-5096	PAR-CLIP	23446348
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT931985	hsa-miR-3646	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT931991	hsa-miR-4679	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT931994	hsa-miR-4760-3p	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT931997	hsa-miR-495	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT932001	hsa-miR-600	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT1975902	hsa-miR-1267	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT1975913	hsa-miR-3194-3p	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT1975926	hsa-miR-4700-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975900	hsa-miR-122	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT1975907	hsa-miR-214	CLIP-seq
MIRT1975914	hsa-miR-3619-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT1975918	hsa-miR-4291	CLIP-seq
MIRT1975923	hsa-miR-4519	CLIP-seq
MIRT1975926	hsa-miR-4700-3p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975935	hsa-miR-761	CLIP-seq
MIRT1975937	hsa-miR-922	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT1975902	hsa-miR-1267	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT2448147	hsa-miR-143	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975904	hsa-miR-1915	CLIP-seq
MIRT2448148	hsa-miR-193a-5p	CLIP-seq
MIRT1975913	hsa-miR-3194-3p	CLIP-seq
MIRT2448149	hsa-miR-431	CLIP-seq
MIRT1975921	hsa-miR-4423-5p	CLIP-seq
MIRT2448150	hsa-miR-4708-5p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT2448151	hsa-miR-4770	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT2448152	hsa-miR-615-5p	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT2515171	hsa-miR-129-5p	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT2515172	hsa-miR-1914	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT2515173	hsa-miR-224	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT2515174	hsa-miR-33a	CLIP-seq
MIRT2515175	hsa-miR-33b	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT2515176	hsa-miR-4457	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT2515177	hsa-miR-450b-5p	CLIP-seq
MIRT2515178	hsa-miR-452	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT2515179	hsa-miR-4676-3p	CLIP-seq
MIRT2515180	hsa-miR-4677-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT2515181	hsa-miR-4731-3p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT2515182	hsa-miR-4765	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT2515183	hsa-miR-4801	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2515184	hsa-miR-507	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT2515185	hsa-miR-513b	CLIP-seq
MIRT2515186	hsa-miR-513c	CLIP-seq
MIRT2515187	hsa-miR-514b-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT2515188	hsa-miR-557	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT2515189	hsa-miR-943	CLIP-seq
MIRT1975898	hsa-miR-106a	CLIP-seq
MIRT1975899	hsa-miR-106b	CLIP-seq
MIRT2211317	hsa-miR-1184	CLIP-seq
MIRT1975901	hsa-miR-1227	CLIP-seq
MIRT931977	hsa-miR-1260	CLIP-seq
MIRT931978	hsa-miR-1260b	CLIP-seq
MIRT931979	hsa-miR-1280	CLIP-seq
MIRT931980	hsa-miR-1281	CLIP-seq
MIRT2515171	hsa-miR-129-5p	CLIP-seq
MIRT931981	hsa-miR-1343	CLIP-seq
MIRT931982	hsa-miR-150	CLIP-seq
MIRT1975903	hsa-miR-17	CLIP-seq
MIRT2515172	hsa-miR-1914	CLIP-seq
MIRT1975905	hsa-miR-20a	CLIP-seq
MIRT1975906	hsa-miR-20b	CLIP-seq
MIRT2515173	hsa-miR-224	CLIP-seq
MIRT1975908	hsa-miR-302a	CLIP-seq
MIRT1975909	hsa-miR-302b	CLIP-seq
MIRT1975910	hsa-miR-302c	CLIP-seq
MIRT1975911	hsa-miR-302d	CLIP-seq
MIRT1975912	hsa-miR-3074-5p	CLIP-seq
MIRT931983	hsa-miR-3155	CLIP-seq
MIRT931984	hsa-miR-3155b	CLIP-seq
MIRT2515174	hsa-miR-33a	CLIP-seq
MIRT2515175	hsa-miR-33b	CLIP-seq
MIRT1975915	hsa-miR-3664-5p	CLIP-seq
MIRT2428218	hsa-miR-369-3p	CLIP-seq
MIRT1975916	hsa-miR-372	CLIP-seq
MIRT1975917	hsa-miR-373	CLIP-seq
MIRT931986	hsa-miR-374c	CLIP-seq
MIRT931987	hsa-miR-3929	CLIP-seq
MIRT1547924	hsa-miR-3934	CLIP-seq
MIRT2211318	hsa-miR-411	CLIP-seq
MIRT1975919	hsa-miR-4300	CLIP-seq
MIRT1975920	hsa-miR-4303	CLIP-seq
MIRT2211319	hsa-miR-4418	CLIP-seq
MIRT931988	hsa-miR-4419b	CLIP-seq
MIRT1975922	hsa-miR-4438	CLIP-seq
MIRT2515176	hsa-miR-4457	CLIP-seq
MIRT931989	hsa-miR-4468	CLIP-seq
MIRT931990	hsa-miR-4478	CLIP-seq
MIRT2515177	hsa-miR-450b-5p	CLIP-seq
MIRT2515178	hsa-miR-452	CLIP-seq
MIRT1975924	hsa-miR-455-5p	CLIP-seq
MIRT1975925	hsa-miR-4632	CLIP-seq
MIRT2515179	hsa-miR-4676-3p	CLIP-seq
MIRT2515180	hsa-miR-4677-3p	CLIP-seq
MIRT931992	hsa-miR-4713-5p	CLIP-seq
MIRT1975927	hsa-miR-4714-5p	CLIP-seq
MIRT2515181	hsa-miR-4731-3p	CLIP-seq
MIRT1975928	hsa-miR-4731-5p	CLIP-seq
MIRT1975929	hsa-miR-4735-5p	CLIP-seq
MIRT931993	hsa-miR-4738-3p	CLIP-seq
MIRT2515182	hsa-miR-4765	CLIP-seq
MIRT1975930	hsa-miR-4766-5p	CLIP-seq
MIRT2211320	hsa-miR-4775	CLIP-seq
MIRT931995	hsa-miR-4797-5p	CLIP-seq
MIRT2515183	hsa-miR-4801	CLIP-seq
MIRT931996	hsa-miR-484	CLIP-seq
MIRT2428219	hsa-miR-494	CLIP-seq
MIRT931998	hsa-miR-498	CLIP-seq
MIRT2515184	hsa-miR-507	CLIP-seq
MIRT2211321	hsa-miR-509-3-5p	CLIP-seq
MIRT931999	hsa-miR-5095	CLIP-seq
MIRT2211322	hsa-miR-509-5p	CLIP-seq
MIRT1975931	hsa-miR-512-3p	CLIP-seq
MIRT2515185	hsa-miR-513b	CLIP-seq
MIRT2515186	hsa-miR-513c	CLIP-seq
MIRT2515187	hsa-miR-514b-5p	CLIP-seq
MIRT1975932	hsa-miR-519d	CLIP-seq
MIRT1975933	hsa-miR-520g	CLIP-seq
MIRT932000	hsa-miR-532-3p	CLIP-seq
MIRT1975934	hsa-miR-550b	CLIP-seq
MIRT2515188	hsa-miR-557	CLIP-seq
MIRT2211323	hsa-miR-590-3p	CLIP-seq
MIRT2211324	hsa-miR-635	CLIP-seq
MIRT932002	hsa-miR-655	CLIP-seq
MIRT1975936	hsa-miR-920	CLIP-seq
MIRT1975938	hsa-miR-93	CLIP-seq
MIRT1975939	hsa-miR-939	CLIP-seq
MIRT2515189	hsa-miR-943	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	9188692
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	TAS	9188692
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	TAS	9188692
GO:0009055	Function	Electron transfer activity	TAS	9188692
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9188692
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	IEA
GO:0030148	Process	Sphingolipid biosynthetic process	TAS
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0035579	Component	Specific granule membrane	TAS
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IBA
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IEA
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	IMP	30620337, 30620338
GO:0042284	Function	Sphingolipid delta-4 desaturase activity	TAS
GO:0043217	Process	Myelin maintenance	IMP	30620337, 30620338
GO:0046513	Process	Ceramide biosynthetic process	IBA
GO:0050251	Function	Retinol isomerase activity	IDA	23143414
GO:0050251	Function	Retinol isomerase activity	IEA

Other IDs

• MIM: 615843
• HGNC: 13709
• e!Ensembl: ENSG00000143753

Protein

• UniProt ID: O15121
• Protein name: Sphingolipid delta(4)-desaturase DES1 (EC 1.14.19.17) (Cell migration-inducing gene 15 protein) (Degenerative spermatocyte homolog 1) (Dihydroceramide desaturase-1) (Membrane lipid desaturase) (Retinol isomerase) (EC 5.2.1.-)
• Protein function: Has sphingolipid-delta-4-desaturase activity. Converts D-erythro-sphinganine to D-erythro-sphingosine (E-sphing-4-enine) (PubMed:11937514, PubMed:30620337, PubMed:30620338). Catalyzes the equilibrium isomerization of retinols (By similarity). {E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08557	Lipid_DES	6 → 42	Sphingolipid Delta4-desaturase (DES)	Domain
  PF00487	FA_desaturase	64 → 293	Fatty acid desaturase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9188692}.
• Sequence:

  MGSRVSREDFEWVYTDQPHADRRREILAKYPEIKSLMKPDPNLIWIIIMMVLTQLGAFYI
  VKDLDWKWVIFGAYAFGSCINHSMTLAIHEIAHNAAFGNCKAMWNRWFGMFANLPIGIPY
  SISFKRYHMDHHRYLGADGVDVDIPTDFEGWFFCTAFRKFIWVILQPLFYAFRPLFINPK
  PITYLEVINTVAQVTFDILIYYFLGIKSLVYMLAASLLGLGLHPISGHFIAEHYMFLKGH
  ETYSYYGPLNLLTFNVGYHNEHHDFPNIPGKSLPLVRKIAAEYYDNLPHYNSWIKVLYDF
  VMDDTISPYSRMKRHQKGEMVLE

• Sequence length: 323

Pathways

KEGG:

Sphingolipid metabolism
Metabolic pathways
Sphingolipid signaling pathway

Reactome:

Sphingolipid de novo biosynthesis
Neutrophil degranulation

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DEGS1-related Hypomyelinating Leukodystrophy	Likely pathogenic; Pathogenic	rs1280845604	RCV005645174
Leukodystrophy	Pathogenic	rs768180196	RCV000786045
Leukodystrophy, hypomyelinating, 18	Likely pathogenic; Pathogenic	rs2102658561, rs1273116884, rs2527259540, rs770197183, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1367958450, rs932183417	RCV001526451 RCV003228874 RCV003340682 RCV003985190 RCV000768570 RCV000768568 RCV000768571 RCV000768572 RCV000768573 RCV000768574 RCV000993676 RCV000993675

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
DEGS1-related disorder	Benign; Likely benign; Uncertain significance	rs201220123, rs780472867, rs776185644, rs148333931, rs61732863, rs191144864	RCV003921066 RCV004758857 RCV004731239 RCV003968959 RCV003926014 RCV003958010

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	35560527
Breast Neoplasms	Associate	37122728
Carcinoma Hepatocellular	Associate	39447728
Coronary Artery Disease	Associate	37298446
Demyelinating Diseases	Associate	30620338
Developmental Disabilities	Associate	37890668
Epilepsy	Associate	34555062, 37890668
Heart Valve Diseases	Associate	37298446
Heredodegenerative Disorders Nervous System	Associate	31186544
Hypoxia	Associate	34332565
Intellectual Disability	Associate	37890668
Leukodystrophy Metachromatic	Associate	37890668
Lung Diseases	Associate	34332565
Lymphatic Metastasis	Stimulate	37122728
Neoplasm Metastasis	Associate	27669432
Neurologic Manifestations	Associate	30620338, 31186544
Niemann Pick Disease Type C	Associate	40294966
Ovarian Neoplasms	Associate	34488809
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	33597727, 37890668
Peripheral Nervous System Diseases	Associate	30620338
Prostatic Neoplasms	Associate	26934645, 27669432
Pulmonary Arterial Hypertension	Associate	34332565
Sphingolipidoses	Associate	30620338, 31186544