ENPP1 (ectonucleotide pyrophosphatase/phosphodiesterase 1)

Gene

• Entrez ID: 5167
• Gene name: Ectonucleotide pyrophosphatase/phosphodiesterase 1
• Gene symbol: ENPP1
• Synonyms (NCBI Gene): ARHR2, COLED, M6S1, NPP1, NPPS, PC-1, PCA1, PDNP1
• Chromosome: 6
• Chromosome location: 6q23.2
• Summary: This gene is a member of the ecto-nucleotide pyrophosphatase/phosphodiesterase (ENPP) family. The encoded protein is a type II transmembrane glycoprotein comprising two identical disulfide-bonded subunits. This protein has broad specificity and cleaves a

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1044498	A>C,G	Risk-factor, benign	Coding sequence variant, missense variant
rs7754561	A>G	Benign, risk-factor	3 prime UTR variant
rs73541508	A>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs121908248	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs121908249	A>C,G	Pathogenic	Missense variant, coding sequence variant
rs121918023	G>T	Pathogenic	Stop gained, coding sequence variant
rs121918024	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918025	G>T	Pathogenic	Missense variant, coding sequence variant
rs121918026	A>T	Pathogenic	Missense variant, coding sequence variant
rs142835743	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs149828062	G>A	Likely-pathogenic	Splice acceptor variant
rs267606784	C>G	Pathogenic	Coding sequence variant, stop gained
rs373044722	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs374270497	C>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs387906673	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518475	G>A	Pathogenic	Missense variant, coding sequence variant
rs397518476	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518477	G>C	Pathogenic	Missense variant, coding sequence variant
rs548504035	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587776797	->A	Pathogenic	Frameshift variant, coding sequence variant
rs753851892	G>A	Pathogenic	Splice donor variant
rs756541266	G>A	Pathogenic	Coding sequence variant, stop gained
rs763922486	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs777367269	G>A,T	Pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1554203715	CAGCTTCCTAA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554278189	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1554278331	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1562523328	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1585841844	A>T	Pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT688380	hsa-miR-3974	HITS-CLIP	23313552
MIRT688379	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT688378	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT688377	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT688376	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688375	hsa-miR-4459	HITS-CLIP	23313552
MIRT688374	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT688373	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT688372	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT688371	hsa-miR-8073	HITS-CLIP	23313552
MIRT688370	hsa-miR-136-5p	HITS-CLIP	23313552
MIRT688369	hsa-miR-4794	HITS-CLIP	23313552
MIRT688368	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT688367	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT688366	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT688365	hsa-miR-4683	HITS-CLIP	23313552
MIRT497515	hsa-miR-3938	PAR-CLIP	22291592
MIRT497514	hsa-miR-6840-5p	PAR-CLIP	22291592
MIRT497513	hsa-miR-6716-3p	PAR-CLIP	22291592
MIRT497512	hsa-miR-3679-3p	PAR-CLIP	22291592
MIRT688380	hsa-miR-3974	HITS-CLIP	23313552
MIRT688379	hsa-miR-433-5p	HITS-CLIP	23313552
MIRT688378	hsa-miR-6502-3p	HITS-CLIP	23313552
MIRT688377	hsa-miR-6888-5p	HITS-CLIP	23313552
MIRT688376	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT688375	hsa-miR-4459	HITS-CLIP	23313552
MIRT688374	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT688373	hsa-miR-4793-5p	HITS-CLIP	23313552
MIRT688372	hsa-miR-221-5p	HITS-CLIP	23313552
MIRT688371	hsa-miR-8073	HITS-CLIP	23313552
MIRT688370	hsa-miR-136-5p	HITS-CLIP	23313552
MIRT688369	hsa-miR-4794	HITS-CLIP	23313552
MIRT688368	hsa-miR-664a-5p	HITS-CLIP	23313552
MIRT688367	hsa-miR-4738-3p	HITS-CLIP	23313552
MIRT688366	hsa-miR-4786-5p	HITS-CLIP	23313552
MIRT688365	hsa-miR-4683	HITS-CLIP	23313552
MIRT497515	hsa-miR-3938	PAR-CLIP	22291592
MIRT497514	hsa-miR-6840-5p	PAR-CLIP	22291592
MIRT497513	hsa-miR-6716-3p	PAR-CLIP	22291592
MIRT497512	hsa-miR-3679-3p	PAR-CLIP	22291592
MIRT963913	hsa-miR-105	CLIP-seq
MIRT963914	hsa-miR-1224-3p	CLIP-seq
MIRT963915	hsa-miR-125a-5p	CLIP-seq
MIRT963916	hsa-miR-125b	CLIP-seq
MIRT963917	hsa-miR-1260	CLIP-seq
MIRT963918	hsa-miR-1260b	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT963920	hsa-miR-1264	CLIP-seq
MIRT963921	hsa-miR-1273f	CLIP-seq
MIRT963922	hsa-miR-1280	CLIP-seq
MIRT963923	hsa-miR-1287	CLIP-seq
MIRT963924	hsa-miR-1294	CLIP-seq
MIRT963925	hsa-miR-1298	CLIP-seq
MIRT963926	hsa-miR-1301	CLIP-seq
MIRT963927	hsa-miR-143	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963933	hsa-miR-188-3p	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT963935	hsa-miR-1909	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT963938	hsa-miR-2964a-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT963941	hsa-miR-3148	CLIP-seq
MIRT963942	hsa-miR-3156-3p	CLIP-seq
MIRT963943	hsa-miR-3160-3p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT963945	hsa-miR-365	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT963948	hsa-miR-3668	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT963950	hsa-miR-3688-3p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963953	hsa-miR-380	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT963956	hsa-miR-3973	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT963958	hsa-miR-4276	CLIP-seq
MIRT963959	hsa-miR-4316	CLIP-seq
MIRT963960	hsa-miR-4319	CLIP-seq
MIRT963961	hsa-miR-4324	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963967	hsa-miR-4446-5p	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT963971	hsa-miR-4495	CLIP-seq
MIRT963972	hsa-miR-4499	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT963974	hsa-miR-4513	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963977	hsa-miR-4646-5p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT963980	hsa-miR-4668-5p	CLIP-seq
MIRT963981	hsa-miR-4670-3p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT963984	hsa-miR-4708-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT963987	hsa-miR-4732-3p	CLIP-seq
MIRT963988	hsa-miR-4732-5p	CLIP-seq
MIRT963989	hsa-miR-4755-5p	CLIP-seq
MIRT963990	hsa-miR-4770	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT963996	hsa-miR-5047	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964000	hsa-miR-520g	CLIP-seq
MIRT964001	hsa-miR-520h	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964006	hsa-miR-619	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT964011	hsa-miR-670	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT964013	hsa-miR-875-3p	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT963972	hsa-miR-4499	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT1985707	hsa-miR-129-5p	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT1985708	hsa-miR-2116	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT1985709	hsa-miR-3149	CLIP-seq
MIRT1985710	hsa-miR-3194-3p	CLIP-seq
MIRT1985711	hsa-miR-3614-5p	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT1985713	hsa-miR-4273	CLIP-seq
MIRT1985714	hsa-miR-4282	CLIP-seq
MIRT1985715	hsa-miR-4291	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT1985717	hsa-miR-4307	CLIP-seq
MIRT1985718	hsa-miR-4310	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT1985720	hsa-miR-4677-5p	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT1985721	hsa-miR-4775	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT1985725	hsa-miR-567	CLIP-seq
MIRT1985726	hsa-miR-590-3p	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT1985727	hsa-miR-668	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT963913	hsa-miR-105	CLIP-seq
MIRT2220123	hsa-miR-1229	CLIP-seq
MIRT2220124	hsa-miR-1237	CLIP-seq
MIRT2220125	hsa-miR-1248	CLIP-seq
MIRT963919	hsa-miR-1262	CLIP-seq
MIRT963920	hsa-miR-1264	CLIP-seq
MIRT2220126	hsa-miR-1269	CLIP-seq
MIRT2220127	hsa-miR-1269b	CLIP-seq
MIRT2220128	hsa-miR-1272	CLIP-seq
MIRT2220129	hsa-miR-1276	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT2220130	hsa-miR-1283	CLIP-seq
MIRT2220131	hsa-miR-1288	CLIP-seq
MIRT2220132	hsa-miR-1293	CLIP-seq
MIRT963926	hsa-miR-1301	CLIP-seq
MIRT2220133	hsa-miR-1322	CLIP-seq
MIRT2220134	hsa-miR-142-5p	CLIP-seq
MIRT2220135	hsa-miR-150	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2220136	hsa-miR-1914	CLIP-seq
MIRT2220137	hsa-miR-194	CLIP-seq
MIRT2220138	hsa-miR-2053	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2220139	hsa-miR-27a	CLIP-seq
MIRT2220140	hsa-miR-27b	CLIP-seq
MIRT2220141	hsa-miR-2964a-3p	CLIP-seq
MIRT2220142	hsa-miR-300	CLIP-seq
MIRT2220143	hsa-miR-302f	CLIP-seq
MIRT2220144	hsa-miR-30a	CLIP-seq
MIRT2220145	hsa-miR-30b	CLIP-seq
MIRT2220146	hsa-miR-30c	CLIP-seq
MIRT2220147	hsa-miR-30d	CLIP-seq
MIRT2220148	hsa-miR-30e	CLIP-seq
MIRT2220149	hsa-miR-3120-3p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2220150	hsa-miR-3163	CLIP-seq
MIRT2220151	hsa-miR-3189-3p	CLIP-seq
MIRT2220152	hsa-miR-3192	CLIP-seq
MIRT2220153	hsa-miR-323-5p	CLIP-seq
MIRT2220154	hsa-miR-337-3p	CLIP-seq
MIRT2220155	hsa-miR-338-3p	CLIP-seq
MIRT2220156	hsa-miR-338-5p	CLIP-seq
MIRT2220157	hsa-miR-339-5p	CLIP-seq
MIRT2220158	hsa-miR-340	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT2220161	hsa-miR-3607-3p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963945	hsa-miR-365	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT963948	hsa-miR-3668	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT2220163	hsa-miR-3678-5p	CLIP-seq
MIRT2220164	hsa-miR-3682-5p	CLIP-seq
MIRT2220165	hsa-miR-3688-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2220166	hsa-miR-3714	CLIP-seq
MIRT2220167	hsa-miR-381	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2220168	hsa-miR-3934	CLIP-seq
MIRT2220169	hsa-miR-3941	CLIP-seq
MIRT2220170	hsa-miR-411	CLIP-seq
MIRT2220171	hsa-miR-421	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT2220172	hsa-miR-4272	CLIP-seq
MIRT2220173	hsa-miR-4279	CLIP-seq
MIRT2220174	hsa-miR-4281	CLIP-seq
MIRT1985714	hsa-miR-4282	CLIP-seq
MIRT2220175	hsa-miR-4311	CLIP-seq
MIRT2220176	hsa-miR-4327	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT2220177	hsa-miR-433	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT2220178	hsa-miR-4468	CLIP-seq
MIRT2220179	hsa-miR-4474-3p	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220180	hsa-miR-448	CLIP-seq
MIRT2220181	hsa-miR-4483	CLIP-seq
MIRT2220182	hsa-miR-4496	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2220185	hsa-miR-4515	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2220186	hsa-miR-4527	CLIP-seq
MIRT2220187	hsa-miR-4528	CLIP-seq
MIRT2220188	hsa-miR-4529-3p	CLIP-seq
MIRT2220189	hsa-miR-4530	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT2220191	hsa-miR-4641	CLIP-seq
MIRT2220192	hsa-miR-4643	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT2220193	hsa-miR-4651	CLIP-seq
MIRT2220194	hsa-miR-4659a-3p	CLIP-seq
MIRT2220195	hsa-miR-4659b-3p	CLIP-seq
MIRT2220196	hsa-miR-466	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2220197	hsa-miR-4662a-3p	CLIP-seq
MIRT2220198	hsa-miR-4663	CLIP-seq
MIRT2220199	hsa-miR-4666-3p	CLIP-seq
MIRT2220200	hsa-miR-4667-3p	CLIP-seq
MIRT2220201	hsa-miR-4672	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT2220202	hsa-miR-4696	CLIP-seq
MIRT963983	hsa-miR-4701-3p	CLIP-seq
MIRT2220203	hsa-miR-4704-3p	CLIP-seq
MIRT2220204	hsa-miR-4709-5p	CLIP-seq
MIRT2220205	hsa-miR-4713-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT2220207	hsa-miR-4768-5p	CLIP-seq
MIRT2220208	hsa-miR-4776-3p	CLIP-seq
MIRT2220209	hsa-miR-4779	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT2220210	hsa-miR-4789-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT963996	hsa-miR-5047	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT2220211	hsa-miR-513a-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT2220212	hsa-miR-520d-5p	CLIP-seq
MIRT2220213	hsa-miR-524-5p	CLIP-seq
MIRT2220214	hsa-miR-532-3p	CLIP-seq
MIRT964002	hsa-miR-542-3p	CLIP-seq
MIRT964003	hsa-miR-545	CLIP-seq
MIRT2220215	hsa-miR-548an	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2220216	hsa-miR-555	CLIP-seq
MIRT2220217	hsa-miR-569	CLIP-seq
MIRT2220218	hsa-miR-583	CLIP-seq
MIRT2220219	hsa-miR-600	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT2220220	hsa-miR-608	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2220221	hsa-miR-644	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT964012	hsa-miR-766	CLIP-seq
MIRT2220222	hsa-miR-873	CLIP-seq
MIRT964013	hsa-miR-875-3p	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT2220223	hsa-miR-942	CLIP-seq
MIRT2387423	hsa-miR-1178	CLIP-seq
MIRT2220123	hsa-miR-1229	CLIP-seq
MIRT2220125	hsa-miR-1248	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2387424	hsa-miR-3152-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT2387425	hsa-miR-4312	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2387426	hsa-miR-4766-5p	CLIP-seq
MIRT2387427	hsa-miR-4773	CLIP-seq
MIRT2387428	hsa-miR-4774-3p	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2465221	hsa-miR-127-5p	CLIP-seq
MIRT2465222	hsa-miR-1296	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2220166	hsa-miR-3714	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963962	hsa-miR-4328	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2465223	hsa-miR-4512	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2465224	hsa-miR-4786-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT2220215	hsa-miR-548an	CLIP-seq
MIRT963915	hsa-miR-125a-5p	CLIP-seq
MIRT963916	hsa-miR-125b	CLIP-seq
MIRT1985706	hsa-miR-128	CLIP-seq
MIRT2524020	hsa-miR-136	CLIP-seq
MIRT963928	hsa-miR-181a	CLIP-seq
MIRT963929	hsa-miR-181b	CLIP-seq
MIRT963930	hsa-miR-181c	CLIP-seq
MIRT963931	hsa-miR-181d	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2524021	hsa-miR-1911	CLIP-seq
MIRT2220136	hsa-miR-1914	CLIP-seq
MIRT2524022	hsa-miR-19a	CLIP-seq
MIRT2524023	hsa-miR-19b	CLIP-seq
MIRT2524024	hsa-miR-2114	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2220152	hsa-miR-3192	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT2524025	hsa-miR-3653	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT2524026	hsa-miR-3665	CLIP-seq
MIRT963949	hsa-miR-3671	CLIP-seq
MIRT2220165	hsa-miR-3688-5p	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2220168	hsa-miR-3934	CLIP-seq
MIRT2220169	hsa-miR-3941	CLIP-seq
MIRT2220171	hsa-miR-421	CLIP-seq
MIRT963957	hsa-miR-4262	CLIP-seq
MIRT2220172	hsa-miR-4272	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT963960	hsa-miR-4319	CLIP-seq
MIRT2220176	hsa-miR-4327	CLIP-seq
MIRT2220177	hsa-miR-433	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963967	hsa-miR-4446-5p	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT2220179	hsa-miR-4474-3p	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2524027	hsa-miR-455-5p	CLIP-seq
MIRT2220190	hsa-miR-4639-3p	CLIP-seq
MIRT2524028	hsa-miR-4640-5p	CLIP-seq
MIRT2220192	hsa-miR-4643	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT2220196	hsa-miR-466	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2524029	hsa-miR-4662a-5p	CLIP-seq
MIRT2220198	hsa-miR-4663	CLIP-seq
MIRT2220200	hsa-miR-4667-3p	CLIP-seq
MIRT2220201	hsa-miR-4672	CLIP-seq
MIRT2524030	hsa-miR-4676-5p	CLIP-seq
MIRT2524031	hsa-miR-4684-5p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT2220202	hsa-miR-4696	CLIP-seq
MIRT2220204	hsa-miR-4709-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT2524032	hsa-miR-4726-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT963987	hsa-miR-4732-3p	CLIP-seq
MIRT2524033	hsa-miR-4736	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT2524034	hsa-miR-4755-3p	CLIP-seq
MIRT963989	hsa-miR-4755-5p	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT2220210	hsa-miR-4789-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT963995	hsa-miR-490-3p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2524035	hsa-miR-550a	CLIP-seq
MIRT2524036	hsa-miR-575	CLIP-seq
MIRT2524037	hsa-miR-596	CLIP-seq
MIRT964005	hsa-miR-607	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2220221	hsa-miR-644	CLIP-seq
MIRT2524038	hsa-miR-646	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2524039	hsa-miR-665	CLIP-seq
MIRT964011	hsa-miR-670	CLIP-seq
MIRT2524040	hsa-miR-764	CLIP-seq
MIRT2220222	hsa-miR-873	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq
MIRT2680068	hsa-miR-1231	CLIP-seq
MIRT2465221	hsa-miR-127-5p	CLIP-seq
MIRT2465222	hsa-miR-1296	CLIP-seq
MIRT2524020	hsa-miR-136	CLIP-seq
MIRT963932	hsa-miR-1827	CLIP-seq
MIRT963934	hsa-miR-1908	CLIP-seq
MIRT2524024	hsa-miR-2114	CLIP-seq
MIRT963936	hsa-miR-219-5p	CLIP-seq
MIRT963937	hsa-miR-2682	CLIP-seq
MIRT2220141	hsa-miR-2964a-3p	CLIP-seq
MIRT2448855	hsa-miR-3120-5p	CLIP-seq
MIRT963939	hsa-miR-3122	CLIP-seq
MIRT963940	hsa-miR-3135b	CLIP-seq
MIRT2448856	hsa-miR-3169	CLIP-seq
MIRT2220159	hsa-miR-34a	CLIP-seq
MIRT2220160	hsa-miR-34c-5p	CLIP-seq
MIRT963944	hsa-miR-3612	CLIP-seq
MIRT2448857	hsa-miR-3613-3p	CLIP-seq
MIRT2220162	hsa-miR-3622b-5p	CLIP-seq
MIRT963946	hsa-miR-3652	CLIP-seq
MIRT2524025	hsa-miR-3653	CLIP-seq
MIRT1985712	hsa-miR-3658	CLIP-seq
MIRT963947	hsa-miR-3664-3p	CLIP-seq
MIRT2448858	hsa-miR-3664-5p	CLIP-seq
MIRT2524026	hsa-miR-3665	CLIP-seq
MIRT963951	hsa-miR-3689a-3p	CLIP-seq
MIRT963952	hsa-miR-3689c	CLIP-seq
MIRT2448859	hsa-miR-371-5p	CLIP-seq
MIRT2448860	hsa-miR-371b-5p	CLIP-seq
MIRT963954	hsa-miR-3913-5p	CLIP-seq
MIRT963955	hsa-miR-3929	CLIP-seq
MIRT2680069	hsa-miR-4288	CLIP-seq
MIRT1985716	hsa-miR-4293	CLIP-seq
MIRT1985719	hsa-miR-4418	CLIP-seq
MIRT963963	hsa-miR-4419b	CLIP-seq
MIRT963964	hsa-miR-4430	CLIP-seq
MIRT963965	hsa-miR-4433	CLIP-seq
MIRT963966	hsa-miR-4443	CLIP-seq
MIRT963968	hsa-miR-4450	CLIP-seq
MIRT963969	hsa-miR-4457	CLIP-seq
MIRT963970	hsa-miR-4478	CLIP-seq
MIRT2220183	hsa-miR-449a	CLIP-seq
MIRT2220184	hsa-miR-449b	CLIP-seq
MIRT963973	hsa-miR-449c	CLIP-seq
MIRT2465223	hsa-miR-4512	CLIP-seq
MIRT2448861	hsa-miR-4522	CLIP-seq
MIRT963975	hsa-miR-4525	CLIP-seq
MIRT2524028	hsa-miR-4640-5p	CLIP-seq
MIRT963976	hsa-miR-4645-3p	CLIP-seq
MIRT963978	hsa-miR-4649-3p	CLIP-seq
MIRT963979	hsa-miR-4660	CLIP-seq
MIRT2524029	hsa-miR-4662a-5p	CLIP-seq
MIRT2524030	hsa-miR-4676-5p	CLIP-seq
MIRT2524031	hsa-miR-4684-5p	CLIP-seq
MIRT963982	hsa-miR-4695-5p	CLIP-seq
MIRT963985	hsa-miR-4722-5p	CLIP-seq
MIRT2524032	hsa-miR-4726-5p	CLIP-seq
MIRT963986	hsa-miR-4728-5p	CLIP-seq
MIRT2524033	hsa-miR-4736	CLIP-seq
MIRT2220206	hsa-miR-4740-5p	CLIP-seq
MIRT963991	hsa-miR-4777-3p	CLIP-seq
MIRT963992	hsa-miR-4782-3p	CLIP-seq
MIRT2465224	hsa-miR-4786-3p	CLIP-seq
MIRT963993	hsa-miR-4787-3p	CLIP-seq
MIRT963994	hsa-miR-485-5p	CLIP-seq
MIRT1985722	hsa-miR-500a	CLIP-seq
MIRT1985723	hsa-miR-509-3-5p	CLIP-seq
MIRT1985724	hsa-miR-509-5p	CLIP-seq
MIRT963997	hsa-miR-510	CLIP-seq
MIRT963998	hsa-miR-512-5p	CLIP-seq
MIRT963999	hsa-miR-513b	CLIP-seq
MIRT964004	hsa-miR-548c-3p	CLIP-seq
MIRT2524035	hsa-miR-550a	CLIP-seq
MIRT2524036	hsa-miR-575	CLIP-seq
MIRT2524037	hsa-miR-596	CLIP-seq
MIRT964007	hsa-miR-624	CLIP-seq
MIRT2680070	hsa-miR-632	CLIP-seq
MIRT2524038	hsa-miR-646	CLIP-seq
MIRT964008	hsa-miR-650	CLIP-seq
MIRT964009	hsa-miR-661	CLIP-seq
MIRT964010	hsa-miR-663	CLIP-seq
MIRT2524040	hsa-miR-764	CLIP-seq
MIRT1985728	hsa-miR-935	CLIP-seq
MIRT964014	hsa-miR-936	CLIP-seq
MIRT964015	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004527	Function	Exonuclease activity	IDA	22285541
GO:0004528	Function	Phosphodiesterase I activity	IBA
GO:0004528	Function	Phosphodiesterase I activity	IDA	27467858
GO:0004528	Function	Phosphodiesterase I activity	IEA
GO:0004528	Function	Phosphodiesterase I activity	ISS
GO:0004551	Function	Dinucleotide phosphatase activity	IBA
GO:0004551	Function	Dinucleotide phosphatase activity	IDA	12746903
GO:0005044	Function	Scavenger receptor activity	IEA
GO:0005158	Function	Insulin receptor binding	IDA	7830796
GO:0005509	Function	Calcium ion binding	ISS
GO:0005515	Function	Protein binding	IPI	11289049, 26065921
GO:0005524	Function	ATP binding	IDA	7830796
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IDA	11159191
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005886	Component	Plasma membrane	IDA	25644539
GO:0005886	Component	Plasma membrane	IDA	10513816, 27467858
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	IDA	12746903
GO:0006796	Process	Phosphate-containing compound metabolic process	IDA	10513816, 11159191
GO:0006955	Process	Immune response	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0009143	Process	Nucleoside triphosphate catabolic process	IBA
GO:0009143	Process	Nucleoside triphosphate catabolic process	IDA	10513816
GO:0009143	Process	Nucleoside triphosphate catabolic process	IEA
GO:0009986	Component	Cell surface	IBA
GO:0009986	Component	Cell surface	IDA	10513816
GO:0010467	Process	Gene expression	IDA	28592560
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016020	Component	Membrane	TAS	1315502
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	NAS	9553761
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IDA	28592560
GO:0030247	Function	Polysaccharide binding	IEA
GO:0030282	Process	Bone mineralization	IDA	28652107
GO:0030308	Process	Negative regulation of cell growth	IDA	17849011
GO:0030318	Process	Melanocyte differentiation	IMP	28964717
GO:0030500	Process	Regulation of bone mineralization	IBA
GO:0030500	Process	Regulation of bone mineralization	IC	10513816
GO:0030502	Process	Negative regulation of bone mineralization	ISS
GO:0030505	Process	Inorganic diphosphate transport	IBA
GO:0030505	Process	Inorganic diphosphate transport	IDA	10513816
GO:0030643	Process	Intracellular phosphate ion homeostasis	IDA	11159191
GO:0031214	Process	Biomineral tissue development	IEA
GO:0032869	Process	Cellular response to insulin stimulus	IDA	7830796, 17849011
GO:0033198	Process	Response to ATP	IDA	25644539
GO:0036219	Function	GTP diphosphatase activity	IEA
GO:0036221	Function	UTP diphosphatase activity	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	7830796, 28964717
GO:0045599	Process	Negative regulation of fat cell differentiation	IBA
GO:0045599	Process	Negative regulation of fat cell differentiation	IDA	17849011
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IDA	11289049
GO:0046034	Process	ATP metabolic process	IBA
GO:0046034	Process	ATP metabolic process	IDA	25644539
GO:0046034	Process	ATP metabolic process	ISS
GO:0046325	Process	Negative regulation of D-glucose import	IDA	17849011
GO:0046627	Process	Negative regulation of insulin receptor signaling pathway	IDA	7830796, 17849011
GO:0046872	Function	Metal ion binding	IEA
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IDA	7830796, 10513816, 11159191, 25344812
GO:0047429	Function	Nucleoside triphosphate diphosphatase activity	IEA
GO:0047693	Function	ATP diphosphatase activity	IEA
GO:0048513	Process	Animal organ development	IEA
GO:0050427	Process	3'-phosphoadenosine 5'-phosphosulfate metabolic process	IDA	7830796
GO:0050656	Function	3'-phosphoadenosine 5'-phosphosulfate binding	IC	7830796
GO:0055062	Process	Phosphate ion homeostasis	IDA	28652107
GO:0090304	Process	Nucleic acid metabolic process	IDA	22285541
GO:0106177	Function	Cyclic-GMP-AMP hydrolase activity	IDA	25344812
GO:0106177	Function	Cyclic-GMP-AMP hydrolase activity	IEA
GO:1990787	Process	Negative regulation of hh target transcription factor activity	ISS

Other IDs

• MIM: 173335
• HGNC: 3356
• e!Ensembl: ENSG00000197594

Protein

• UniProt ID: P22413
• Protein name: Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E-NPP 1) (Alkaline phosphodiesterase I) (EC 3.1.4.1) (Membrane component chromosome 6 surface marker 1) (Nucleotide diphosphatase) (Nucleotide pyrophosphatase) (NPPase) (EC 3.6.1.9) (Phosph
• Protein function: Nucleotide pyrophosphatase that generates diphosphate (PPi) and functions in bone mineralization and soft tissue calcification by regulating pyrophosphate levels (By similarity). PPi inhibits bone mineralization and soft tissue calcification by
• PDB: 2YS0, 6WET, 6WEU, 6WEV, 6WEW, 6WFJ, 8GHR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01033	Somatomedin_B	106 → 143	Somatomedin B domain	Family
  PF01033	Somatomedin_B	147 → 187	Somatomedin B domain	Family
  PF01663	Phosphodiest	212 → 538	Type I phosphodiesterase / nucleotide pyrophosphatase	Family
  PF01223	Endonuclease_NS	663 → 905	DNA/RNA non-specific endonuclease	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in plasma cells and also in a number of non-lymphoid tissues, including the distal convoluted tubule of the kidney, chondrocytes and epididymis (PubMed:9344668). Expressed in melanocytes but not in keratinocytes (PubMed:28964
• Sequence:

  MERDGCAGGGSRGGEGGRAPREGPAGNGRDRGRSHAAEAPGDPQAAASLLAPMDVGEEPL
  EKAARARTAKDPNTYKVLSLVLSVCVLTTILGCIFGLKPSCAKEVKSCKGRCFERTFGNC
  RCDAACVELGNCCLDYQETCIEPEHIWTCNKFRCGEKRLTRSLCACSDDCKDKGDCCINY
  SSVCQGEKSWVEEPCESINEPQCPAGFETPPTLLFSLDGFRAEYLHTWGGLLPVISKLKK
  CGTYTKNMRPVYPTKTFPNHYSIVTGLYPESHGIIDNKMYDPKMNASFSLKSKEKFNPEW
  YKGEPIWVTAKYQGLKSGTFFWPGSDVEINGIFPDIYKMYNGSVPFEERILAVLQWLQLP
  KDERPHFYTLYLEEPDSSGHSYGPVSSEVIKALQRVDGMVGMLMDGLKELNLHRCLNLIL
  ISDHGMEQGSCKKYIYLNKYLGDVKNIKVIYGPAARLRPSDVPDKYYSFNYEGIARNLSC
  REPNQHFKPYLKHFLPKRLHFAKSDRIEPLTFYLDPQWQLALNPSERKYCGSGFHGSDNV
  FSNMQALFVGYGPGFKHGIEADTFENIEVYNLMCDLLNLTPAPNNGTHGSLNHLLKNPVY
  TPKHPKEVHPLVQCPFTRNPRDNLGCSCNPSILPIEDFQTQFNLTVAEEKIIKHETLPYG
  RPRVLQKENTICLLSQHQFMSGYSQDILMPLWTSYTVDRNDSFSTEDFSNCLYQDFRIPL
  SPVHKCSFYKNNTKVSYGFLSPPQLNKNSSGIYSEALLTTNIVPMYQSFQVIWRYFHDTL
  LRKYAEERNGVNVVSGPVFDFDYDGRCDSLENLRQKRRVIRNQEILIPTHFFIVLTSCKD
  TSQTPLHCENLDTLAFILPHRTDNSESCVHGKHDSSWVEELLMLHRARITDVEHITGLSF
  YQQRKEPVSDILKLKTHLPTFSQED

• Sequence length: 925

Pathways

KEGG:

Purine metabolism
Pyrimidine metabolism
Starch and sucrose metabolism
Riboflavin metabolism
Nicotinate and nicotinamide metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Nucleotide metabolism

Reactome:

Vitamin B2 (riboflavin) metabolism
Vitamin B5 (pantothenate) metabolism

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Likely pathogenic	rs751147622	RCV005861184
Arterial calcification, generalized, of infancy, 1	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs2114702198, rs751725130, rs1805101, rs1234826768, rs2114702042, rs2114706946, rs2114643507, rs2114727013, rs1470739291, rs2114710332, rs1167413684, rs2114726975, rs2114728448, rs2114737043, rs2483547484, rs777367269, rs2483527612, rs121918023, rs1554203715, rs121918024, rs121918025, rs121918026, rs121908248, rs267606784, rs1401810953, rs1782451970, rs770775549, rs751147622, rs374270497, rs387906673, rs753851892, rs149828062, rs763922486, rs373044722, rs1562523328, rs1585841844, rs1781877793	RCV001536097 RCV005042758 RCV002273880 RCV002273881 RCV002273882 RCV002273884 RCV002273885 RCV002273912 RCV002273914 RCV002273887 RCV002273889 RCV002273893 RCV002273894 RCV002273895 RCV002273896 RCV002273897 RCV003320394 RCV000022723 RCV003482924 RCV000014554 RCV000014556 RCV000014557 RCV000014560 RCV000014561 RCV000014564 RCV000014567 RCV000014568 RCV005038577 RCV003989094 RCV003990491 RCV000022720 RCV000022721 RCV000022722 RCV005004205 RCV000660585 RCV000660584 RCV000785867 RCV000984993 RCV000995539 RCV001270246
Coronary sclerosis, medial, of infancy	Likely pathogenic; Pathogenic	rs121918025, rs756541266	RCV000853319 RCV000853320
ENPP1-related disorder	Likely pathogenic; Pathogenic	rs754659608, rs1782357136, rs2483462090, rs267606784, rs2483510755, rs374270497	RCV003336411 RCV003388023 RCV004534333 RCV004734519 RCV004542628 RCV004532398
Hypophosphatemic rickets, autosomal recessive, 2	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs2114702198, rs1805101, rs1234826768, rs755969803, rs2114643507, rs2114727013, rs1470739291, rs2114726975, rs777367269, rs2483385755, rs2483513145, rs121908248, rs587776797, rs121908249, rs1782451970, rs374270497, rs1554278331, rs149828062, rs763922486, rs373044722	RCV001536097 RCV005042758 RCV002273880 RCV002273882 RCV002273884 RCV002273913 RCV002273915 RCV002273888 RCV002273889 RCV002273895 RCV005044526 RCV004545898 RCV004545899 RCV000014563 RCV000014565 RCV000014566 RCV005038577 RCV005031451 RCV000513219 RCV005004205 RCV000660585 RCV000660584
Hypopigmentation-punctate palmoplantar keratoderma syndrome	Pathogenic; Likely pathogenic	rs1782357136, rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722, rs397518475, rs397518476, rs397518477	RCV001536097 RCV005042758 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849 RCV000074401 RCV000074402 RCV000074403
Inherited obesity	Likely pathogenic; Pathogenic	rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722	RCV005042758 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849
Obesity	Pathogenic	rs1782357136	RCV001536097
Type 2 diabetes mellitus	Pathogenic; Likely pathogenic	rs1782357136, rs2114715547, rs1258544339, rs777367269, rs1782451970, rs374270497, rs149828062, rs373044722	RCV001536097 RCV002249041 RCV002249936 RCV005044526 RCV005038577 RCV005031451 RCV005004205 RCV005046849

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs144882196	RCV005907350
Diabetes mellitus type 2, susceptibility to	Conflicting classifications of pathogenicity; Benign	rs1044498, rs397832689	RCV001255136 RCV000014552
Dystonia 28, childhood-onset	Conflicting classifications of pathogenicity	rs753071702	RCV004813131
Familial cancer of breast	Likely benign; Conflicting classifications of pathogenicity	rs140165131, rs73541508	RCV005919132 RCV005899042
Gastric cancer	Benign; Likely benign	rs143637835	RCV005914150
Hypophosphatemic rickets	Conflicting classifications of pathogenicity; Uncertain significance	rs79079368, rs1044498, rs1343186878	RCV001843482 RCV001843453 RCV004801443
Hypophosphatemic Rickets, Recessive	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs879243445, rs536901634, rs59956343, rs397832689, rs886061068, rs564304453, rs200562612, rs138970138, rs886061072, rs143885750, rs3035998, rs112718541, rs113083049, rs34545497, rs1800948	RCV000263217 RCV000275274 RCV000308688 RCV000296282 RCV000301486 RCV000290507 RCV000371891 RCV000378820 RCV000332542 RCV000353794 RCV000392726 RCV000282646 RCV000388434 RCV000353447 RCV000377747 RCV000289088 RCV000370919 RCV000402821 RCV000321419 RCV000319599
Insulin resistance, susceptibility to	Conflicting classifications of pathogenicity	rs1044498	RCV000014558
Intellectual disability	Uncertain significance	rs371695495	RCV005626867
Ovarian serous cystadenocarcinoma	Benign	rs144202023	RCV005925236
Sarcoma	Likely benign	rs140165131	RCV005919133
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs144882196	RCV005907351

Associations from Text Mining
Disease Name	Relationship Type	References
Acrophobia	Associate	28381371
Anemia Sickle Cell	Associate	23422753
Angioid Streaks	Associate	22209248
Arterial calcification of infancy	Associate	11159191, 20137773, 22209248, 23746223, 29976176, 31444901, 31826312, 34355424, 35340077, 35482848
Arthralgia	Associate	29103441
Arthritis Rheumatoid	Inhibit	11168012
Auriculo condylar syndrome	Associate	28381371
Bone Diseases	Associate	21738662
Breast Neoplasms	Associate	25201346, 26065921, 33838601, 35191482, 38117852
Breast Neoplasms	Stimulate	36761762
Calcinosis	Associate	11352238, 16207325, 16207345, 20137772, 24075184, 31444901, 31646622, 35482848
Calcinosis	Inhibit	20015201
Carcinoma Ovarian Epithelial	Associate	33635867
Cardiomyopathies	Associate	29976176
Cardiovascular Abnormalities	Associate	31444901
Cardiovascular Diseases	Associate	21282363, 23012391, 34355424
Cell Transformation Neoplastic	Associate	38117852
Charcot Marie Tooth Disease	Associate	28860329
Chronic Kidney Disease Mineral and Bone Disorder	Associate	22229486, 33271541
Colorectal Neoplasms	Associate	23036011
Colorectal Neoplasms	Inhibit	23036011
Coronary Artery Disease	Associate	30985656
Cystadenoma Serous	Stimulate	33635867
Death	Associate	20016754
Dental Plaque	Inhibit	20015201
Dentofacial Deformities	Associate	27519661
Diabetes Complications	Associate	18176722, 19656007
Diabetes Gestational	Associate	25222839
Diabetes Mellitus	Associate	17228024, 18176722, 18426862, 19017751, 20428609, 20958205, 21282363, 26958016
Diabetes Mellitus Type 2	Associate	16025115, 18176722, 18426862, 18498634, 18551113, 18678618, 18719658, 18950909, 19017751, 19656007, 23012391, 23527042, 25368487, 25463099, 26065921, 26958016
Diabetes Mellitus Type 2	Inhibit	25539584
Diabetic Angiopathies	Associate	18950909
Dyschromatosis symmetrica hereditaria 1	Associate	28964717
Endplate Acetylcholinesterase Deficiency	Associate	25372418
Enthesopathy	Associate	31826312
Epiphyseal dysplasia multiple 1	Associate	11352238
Facial Asymmetry	Associate	29103441
Familial Hypophosphatemic Rickets	Associate	35340077
Fetal Macrosomia	Associate	30618040
Genetic Diseases Inborn	Associate	24075184, 31444901
Glioblastoma	Associate	24531536
Glucose Intolerance	Associate	16025115
Glucose Metabolism Disorders	Associate	23633196
Hydrops Fetalis	Associate	29976176
Hyperglycemia	Associate	18426862
Hyperostosis Diffuse Idiopathic Skeletal	Associate	35340077
Hyperparathyroidism Primary	Associate	31826312
Hypertension	Associate	23036011, 29976176
Hypertriglyceridemia	Associate	19656007
Hypophosphatasia	Associate	22703652
Hypophosphatemia Familial	Associate	20137772
Hypophosphatemic Bone Disease	Associate	34355424
Hypophosphatemic Rickets Autosomal Recessive 2	Associate	20137772, 20137773, 31826312, 34355424, 35340077, 35899574
Infections	Associate	31444901
Inflammation	Associate	35191482
Insulin Resistance	Associate	16025115, 18426862, 18583883, 18950909, 19656007, 20428609, 21282363, 23036011, 25368487, 25463099, 33271541, 34872092
Intervertebral Disc Displacement	Associate	29103441
Kidney Neoplasms	Associate	33271541
Lung Neoplasms	Stimulate	36761762
Malnutrition	Associate	23036011
Mandibular Injuries	Associate	29103441
Masticatory Muscles Hypertrophy of	Associate	29103441
Monckeberg Medial Calcific Sclerosis	Associate	20015201
Multiple Myeloma	Associate	37105956
Myocardial Ischemia	Associate	20428609
Neoplasm Metastasis	Associate	38117852
Neoplasms	Associate	32880385, 33402044, 33635867, 33838601, 35191482, 35806118, 36761762, 38117852
Neoplasms Adipose Tissue	Associate	18426862, 23012391, 34872092
Neural Tube Defects	Associate	24332798
Obesity	Associate	16025115, 17228024, 18464750, 18498634, 18551113, 18719658, 18776139, 18948963, 19656007, 21282363, 23375129, 31350533
Obesity Morbid	Associate	18551113
Oculodentodigital Dysplasia	Associate	28381371
Odontogenic Cyst Calcifying	Inhibit	20015201
Organizing Pneumonia	Associate	34355424
Ossification of Posterior Longitudinal Ligament	Associate	35340077
Osteoarthritis	Associate	16207325, 16207345, 20109188, 24004678
Osteoarthritis	Stimulate	20353559
Osteochondritis	Associate	11352238
Ovarian Diseases	Associate	32880385
Ovarian Neoplasms	Stimulate	33635867, 36761762
Overweight	Associate	18776139, 18948963, 31350533
Plaque Atherosclerotic	Inhibit	20015201
Polycystic Ovary Syndrome	Associate	15374726
Polymyalgia Rheumatica	Associate	11159191
Progeria	Associate	21738662
Pseudoxanthoma Elasticum	Associate	22209248, 22229486, 25264593, 31444901, 31646622, 35482848
Renal Insufficiency	Associate	35191482
Rickets	Associate	33005041, 34355424
Rickets Hypophosphatemic	Associate	20137773, 31444901
Sarcoma Ewing	Associate	38113033
Skin Diseases	Associate	22209248
Stroke	Associate	23422753, 24338010
Temporomandibular Joint Disorders	Associate	27519661, 29103441
Thrombocytopenia	Associate	31444901
Uniparental Disomy	Associate	35482848
Uterine Cervicitis	Associate	25372418
Vascular Calcification	Associate	16207325, 20016754, 20137773, 21738662, 22229486, 29976176, 34355424, 37558402
Weight Gain	Associate	31350533