CHSY1 (chondroitin sulfate synthase 1)

Gene

• Entrez ID: 22856
• Gene name: Chondroitin sulfate synthase 1
• Gene symbol: CHSY1
• Synonyms (NCBI Gene): CHSY, CSS1, ChSy-1, TPBS
• Chromosome: 15
• Chromosome location: 15q26.3
• Summary: This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. These enzymes possess dual glucuronyltransferase and galactosaminyltransferase activity and play critical roles in the biosynthesis of chondroitin sulfate, a glycosami

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs146047900	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs146586939	T>A,C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant
rs387906984	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained
rs387906985	G>C	Pathogenic	Coding sequence variant, missense variant
rs751409111	G>A,T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, coding sequence variant, synonymous variant
rs764100516	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs1567106459	G>C	Pathogenic	Genic upstream transcript variant, intron variant
rs1567112402	C>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1596459125	G>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002768	hsa-miR-1-3p	Microarray	15685193
MIRT002605	hsa-miR-124-3p	Microarray	15685193
MIRT019774	hsa-miR-375	Microarray	20215506
MIRT021396	hsa-miR-9-5p	Sequencing	20371350
MIRT002605	hsa-miR-124-3p	Microarray	18668037
MIRT002605	hsa-miR-124-3p	Microarray	15685193
MIRT002768	hsa-miR-1-3p	Microarray;Other	15685193
MIRT053702	hsa-miR-221-3p	Microarray	22942087
MIRT724631	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT724630	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT724629	hsa-miR-657	HITS-CLIP	19536157
MIRT724627	hsa-miR-5093	HITS-CLIP	19536157
MIRT724628	hsa-miR-1207-5p	HITS-CLIP	19536157
MIRT724626	hsa-miR-4763-3p	HITS-CLIP	19536157
MIRT724625	hsa-miR-4736	HITS-CLIP	19536157
MIRT724624	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT724623	hsa-miR-7150	HITS-CLIP	19536157
MIRT724622	hsa-miR-5096	HITS-CLIP	19536157
MIRT002605	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT568059	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT002605	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT568058	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT568057	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT568056	hsa-miR-3714	PAR-CLIP	20371350
MIRT568055	hsa-miR-3910	PAR-CLIP	20371350
MIRT568054	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT568053	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT568052	hsa-miR-4251	PAR-CLIP	20371350
MIRT568051	hsa-miR-4329	PAR-CLIP	20371350
MIRT568050	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT568049	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT568048	hsa-miR-4477a	PAR-CLIP	20371350
MIRT568047	hsa-miR-7641	PAR-CLIP	20371350
MIRT479272	hsa-miR-3609	PAR-CLIP	23592263
MIRT479273	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT479271	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT479270	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT479269	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT479268	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT479267	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT479266	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT479265	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT479264	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT479263	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT479262	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT479261	hsa-miR-9500	PAR-CLIP	23592263
MIRT479260	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT479259	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT479258	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT479257	hsa-miR-3689d	PAR-CLIP	23592263
MIRT479256	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT479255	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT724631	hsa-miR-651-3p	HITS-CLIP	19536157
MIRT724630	hsa-miR-5197-5p	HITS-CLIP	19536157
MIRT724629	hsa-miR-657	HITS-CLIP	19536157
MIRT724627	hsa-miR-5093	HITS-CLIP	19536157
MIRT724628	hsa-miR-1207-5p	HITS-CLIP	19536157
MIRT724626	hsa-miR-4763-3p	HITS-CLIP	19536157
MIRT724625	hsa-miR-4736	HITS-CLIP	19536157
MIRT724624	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT724623	hsa-miR-7150	HITS-CLIP	19536157
MIRT724622	hsa-miR-5096	HITS-CLIP	19536157
MIRT002605	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT568059	hsa-miR-506-3p	PAR-CLIP	20371350
MIRT002605	hsa-miR-124-3p	PAR-CLIP	20371350
MIRT568058	hsa-miR-7-1-3p	PAR-CLIP	20371350
MIRT568057	hsa-miR-7-2-3p	PAR-CLIP	20371350
MIRT568056	hsa-miR-3714	PAR-CLIP	20371350
MIRT568055	hsa-miR-3910	PAR-CLIP	20371350
MIRT568054	hsa-miR-5582-5p	PAR-CLIP	20371350
MIRT568053	hsa-miR-3200-5p	PAR-CLIP	20371350
MIRT568052	hsa-miR-4251	PAR-CLIP	20371350
MIRT568051	hsa-miR-4329	PAR-CLIP	20371350
MIRT568050	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT568049	hsa-miR-570-3p	PAR-CLIP	20371350
MIRT568048	hsa-miR-4477a	PAR-CLIP	20371350
MIRT568047	hsa-miR-7641	PAR-CLIP	20371350
MIRT479272	hsa-miR-3609	PAR-CLIP	23592263
MIRT479273	hsa-miR-548ah-5p	PAR-CLIP	23592263
MIRT479271	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT479270	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT479269	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT479268	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT479267	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT479266	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT479265	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT479264	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT479263	hsa-miR-4796-3p	PAR-CLIP	23592263
MIRT479262	hsa-miR-6753-5p	PAR-CLIP	23592263
MIRT479261	hsa-miR-9500	PAR-CLIP	23592263
MIRT479260	hsa-miR-7113-5p	PAR-CLIP	23592263
MIRT479259	hsa-miR-4795-5p	PAR-CLIP	23592263
MIRT479258	hsa-miR-655-5p	PAR-CLIP	23592263
MIRT479257	hsa-miR-3689d	PAR-CLIP	23592263
MIRT479256	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT479255	hsa-miR-6807-5p	PAR-CLIP	23592263
MIRT892649	hsa-miR-1204	CLIP-seq
MIRT892650	hsa-miR-1206	CLIP-seq
MIRT892651	hsa-miR-124	CLIP-seq
MIRT892652	hsa-miR-1270	CLIP-seq
MIRT892653	hsa-miR-1273e	CLIP-seq
MIRT892654	hsa-miR-1297	CLIP-seq
MIRT892655	hsa-miR-186	CLIP-seq
MIRT892656	hsa-miR-1909	CLIP-seq
MIRT892657	hsa-miR-1911	CLIP-seq
MIRT892658	hsa-miR-194	CLIP-seq
MIRT892659	hsa-miR-221	CLIP-seq
MIRT892660	hsa-miR-222	CLIP-seq
MIRT892661	hsa-miR-26a	CLIP-seq
MIRT892662	hsa-miR-26b	CLIP-seq
MIRT892663	hsa-miR-2964a-3p	CLIP-seq
MIRT892664	hsa-miR-302f	CLIP-seq
MIRT892665	hsa-miR-3187-3p	CLIP-seq
MIRT892666	hsa-miR-3612	CLIP-seq
MIRT892667	hsa-miR-3973	CLIP-seq
MIRT892668	hsa-miR-4465	CLIP-seq
MIRT892669	hsa-miR-4468	CLIP-seq
MIRT892670	hsa-miR-4503	CLIP-seq
MIRT892671	hsa-miR-4527	CLIP-seq
MIRT892672	hsa-miR-4529-5p	CLIP-seq
MIRT892673	hsa-miR-4531	CLIP-seq
MIRT892674	hsa-miR-4663	CLIP-seq
MIRT892675	hsa-miR-4683	CLIP-seq
MIRT892676	hsa-miR-4728-3p	CLIP-seq
MIRT892677	hsa-miR-4797-5p	CLIP-seq
MIRT892678	hsa-miR-498	CLIP-seq
MIRT892679	hsa-miR-506	CLIP-seq
MIRT892680	hsa-miR-520g	CLIP-seq
MIRT892681	hsa-miR-520h	CLIP-seq
MIRT892682	hsa-miR-548aa	CLIP-seq
MIRT892683	hsa-miR-548an	CLIP-seq
MIRT892684	hsa-miR-548v	CLIP-seq
MIRT892685	hsa-miR-555	CLIP-seq
MIRT892686	hsa-miR-570	CLIP-seq
MIRT892687	hsa-miR-580	CLIP-seq
MIRT892688	hsa-miR-620	CLIP-seq
MIRT892689	hsa-miR-650	CLIP-seq
MIRT892690	hsa-miR-661	CLIP-seq
MIRT892691	hsa-miR-759	CLIP-seq
MIRT892692	hsa-miR-9	CLIP-seq
MIRT892693	hsa-miR-940	CLIP-seq
MIRT1964574	hsa-miR-1	CLIP-seq
MIRT1964575	hsa-miR-1286	CLIP-seq
MIRT1964576	hsa-miR-200b	CLIP-seq
MIRT1964577	hsa-miR-200c	CLIP-seq
MIRT1964578	hsa-miR-2052	CLIP-seq
MIRT1964579	hsa-miR-2054	CLIP-seq
MIRT1964580	hsa-miR-206	CLIP-seq
MIRT1964581	hsa-miR-3133	CLIP-seq
MIRT1964582	hsa-miR-3177-5p	CLIP-seq
MIRT1964583	hsa-miR-338-5p	CLIP-seq
MIRT1964584	hsa-miR-369-3p	CLIP-seq
MIRT1964585	hsa-miR-371-5p	CLIP-seq
MIRT1964586	hsa-miR-371b-5p	CLIP-seq
MIRT1964587	hsa-miR-429	CLIP-seq
MIRT1964588	hsa-miR-4722-5p	CLIP-seq
MIRT1964589	hsa-miR-499-3p	CLIP-seq
MIRT1964590	hsa-miR-499a-3p	CLIP-seq
MIRT1964591	hsa-miR-582-5p	CLIP-seq
MIRT1964592	hsa-miR-613	CLIP-seq
MIRT892693	hsa-miR-940	CLIP-seq
MIRT1964574	hsa-miR-1	CLIP-seq
MIRT2200728	hsa-miR-1182	CLIP-seq
MIRT892650	hsa-miR-1206	CLIP-seq
MIRT2200729	hsa-miR-1248	CLIP-seq
MIRT2200730	hsa-miR-1268	CLIP-seq
MIRT2200731	hsa-miR-1268b	CLIP-seq
MIRT1964575	hsa-miR-1286	CLIP-seq
MIRT892654	hsa-miR-1297	CLIP-seq
MIRT2200732	hsa-miR-141	CLIP-seq
MIRT892658	hsa-miR-194	CLIP-seq
MIRT2200733	hsa-miR-200a	CLIP-seq
MIRT1964578	hsa-miR-2052	CLIP-seq
MIRT1964580	hsa-miR-206	CLIP-seq
MIRT2200734	hsa-miR-217	CLIP-seq
MIRT892659	hsa-miR-221	CLIP-seq
MIRT892660	hsa-miR-222	CLIP-seq
MIRT2200735	hsa-miR-2355-3p	CLIP-seq
MIRT2200736	hsa-miR-23a	CLIP-seq
MIRT2200737	hsa-miR-23b	CLIP-seq
MIRT2200738	hsa-miR-23c	CLIP-seq
MIRT892661	hsa-miR-26a	CLIP-seq
MIRT892662	hsa-miR-26b	CLIP-seq
MIRT2200739	hsa-miR-3117-3p	CLIP-seq
MIRT2200740	hsa-miR-3155	CLIP-seq
MIRT2200741	hsa-miR-3155b	CLIP-seq
MIRT2200742	hsa-miR-3169	CLIP-seq
MIRT2200743	hsa-miR-323-5p	CLIP-seq
MIRT2200744	hsa-miR-3613-3p	CLIP-seq
MIRT2200745	hsa-miR-3650	CLIP-seq
MIRT1964585	hsa-miR-371-5p	CLIP-seq
MIRT1964586	hsa-miR-371b-5p	CLIP-seq
MIRT2200746	hsa-miR-374c	CLIP-seq
MIRT2200747	hsa-miR-380	CLIP-seq
MIRT892667	hsa-miR-3973	CLIP-seq
MIRT2200748	hsa-miR-409-3p	CLIP-seq
MIRT2200749	hsa-miR-4252	CLIP-seq
MIRT892668	hsa-miR-4465	CLIP-seq
MIRT2200750	hsa-miR-4470	CLIP-seq
MIRT2200751	hsa-miR-4486	CLIP-seq
MIRT892670	hsa-miR-4503	CLIP-seq
MIRT2200752	hsa-miR-4515	CLIP-seq
MIRT892671	hsa-miR-4527	CLIP-seq
MIRT2200753	hsa-miR-4643	CLIP-seq
MIRT2200754	hsa-miR-4646-3p	CLIP-seq
MIRT2200755	hsa-miR-4661-5p	CLIP-seq
MIRT2200756	hsa-miR-4666-3p	CLIP-seq
MIRT2200757	hsa-miR-4698	CLIP-seq
MIRT2200758	hsa-miR-4705	CLIP-seq
MIRT2200759	hsa-miR-4711-5p	CLIP-seq
MIRT1964588	hsa-miR-4722-5p	CLIP-seq
MIRT2200760	hsa-miR-4727-5p	CLIP-seq
MIRT2200761	hsa-miR-4759	CLIP-seq
MIRT2200762	hsa-miR-4769-3p	CLIP-seq
MIRT2200763	hsa-miR-4788	CLIP-seq
MIRT892677	hsa-miR-4797-5p	CLIP-seq
MIRT2200764	hsa-miR-484	CLIP-seq
MIRT892678	hsa-miR-498	CLIP-seq
MIRT892680	hsa-miR-520g	CLIP-seq
MIRT892681	hsa-miR-520h	CLIP-seq
MIRT2200765	hsa-miR-544	CLIP-seq
MIRT2200766	hsa-miR-548a-3p	CLIP-seq
MIRT2200767	hsa-miR-548ae	CLIP-seq
MIRT2200768	hsa-miR-548aj	CLIP-seq
MIRT2200769	hsa-miR-548am	CLIP-seq
MIRT892683	hsa-miR-548an	CLIP-seq
MIRT2200770	hsa-miR-548e	CLIP-seq
MIRT2200771	hsa-miR-548f	CLIP-seq
MIRT892684	hsa-miR-548v	CLIP-seq
MIRT2200772	hsa-miR-548x	CLIP-seq
MIRT2200773	hsa-miR-550a	CLIP-seq
MIRT892685	hsa-miR-555	CLIP-seq
MIRT2200774	hsa-miR-561	CLIP-seq
MIRT2200775	hsa-miR-568	CLIP-seq
MIRT2200776	hsa-miR-578	CLIP-seq
MIRT1964591	hsa-miR-582-5p	CLIP-seq
MIRT2200777	hsa-miR-585	CLIP-seq
MIRT1964592	hsa-miR-613	CLIP-seq
MIRT2200778	hsa-miR-643	CLIP-seq
MIRT2200779	hsa-miR-655	CLIP-seq
MIRT892690	hsa-miR-661	CLIP-seq
MIRT892691	hsa-miR-759	CLIP-seq
MIRT2200780	hsa-miR-876-3p	CLIP-seq
MIRT2200730	hsa-miR-1268	CLIP-seq
MIRT2200731	hsa-miR-1268b	CLIP-seq
MIRT2200744	hsa-miR-3613-3p	CLIP-seq
MIRT2200751	hsa-miR-4486	CLIP-seq
MIRT2200755	hsa-miR-4661-5p	CLIP-seq
MIRT2447061	hsa-miR-4684-5p	CLIP-seq
MIRT2200767	hsa-miR-548ae	CLIP-seq
MIRT2200768	hsa-miR-548aj	CLIP-seq
MIRT2200769	hsa-miR-548am	CLIP-seq
MIRT2447062	hsa-miR-548c-3p	CLIP-seq
MIRT2200772	hsa-miR-548x	CLIP-seq
MIRT2200777	hsa-miR-585	CLIP-seq
MIRT2503431	hsa-miR-1208	CLIP-seq
MIRT2200729	hsa-miR-1248	CLIP-seq
MIRT2200730	hsa-miR-1268	CLIP-seq
MIRT2200731	hsa-miR-1268b	CLIP-seq
MIRT892658	hsa-miR-194	CLIP-seq
MIRT1964578	hsa-miR-2052	CLIP-seq
MIRT2503432	hsa-miR-2355-5p	CLIP-seq
MIRT2503433	hsa-miR-297	CLIP-seq
MIRT1964581	hsa-miR-3133	CLIP-seq
MIRT2200743	hsa-miR-323-5p	CLIP-seq
MIRT2200744	hsa-miR-3613-3p	CLIP-seq
MIRT2200745	hsa-miR-3650	CLIP-seq
MIRT2503434	hsa-miR-3672	CLIP-seq
MIRT2503435	hsa-miR-3679-3p	CLIP-seq
MIRT1964585	hsa-miR-371-5p	CLIP-seq
MIRT1964586	hsa-miR-371b-5p	CLIP-seq
MIRT2503436	hsa-miR-3942-3p	CLIP-seq
MIRT2503437	hsa-miR-412	CLIP-seq
MIRT2503438	hsa-miR-4297	CLIP-seq
MIRT2503439	hsa-miR-4307	CLIP-seq
MIRT2503440	hsa-miR-4446-5p	CLIP-seq
MIRT2200751	hsa-miR-4486	CLIP-seq
MIRT2503441	hsa-miR-4539	CLIP-seq
MIRT2200755	hsa-miR-4661-5p	CLIP-seq
MIRT2503442	hsa-miR-4678	CLIP-seq
MIRT2447061	hsa-miR-4684-5p	CLIP-seq
MIRT2503443	hsa-miR-4777-3p	CLIP-seq
MIRT2503444	hsa-miR-4778-3p	CLIP-seq
MIRT892677	hsa-miR-4797-5p	CLIP-seq
MIRT2503445	hsa-miR-488	CLIP-seq
MIRT2503446	hsa-miR-520d-5p	CLIP-seq
MIRT2503447	hsa-miR-524-5p	CLIP-seq
MIRT892682	hsa-miR-548aa	CLIP-seq
MIRT2200767	hsa-miR-548ae	CLIP-seq
MIRT2200768	hsa-miR-548aj	CLIP-seq
MIRT2200769	hsa-miR-548am	CLIP-seq
MIRT2447062	hsa-miR-548c-3p	CLIP-seq
MIRT2503448	hsa-miR-548m	CLIP-seq
MIRT2200772	hsa-miR-548x	CLIP-seq
MIRT2200773	hsa-miR-550a	CLIP-seq
MIRT892685	hsa-miR-555	CLIP-seq
MIRT2503449	hsa-miR-567	CLIP-seq
MIRT2200777	hsa-miR-585	CLIP-seq
MIRT2503450	hsa-miR-622	CLIP-seq
MIRT892690	hsa-miR-661	CLIP-seq
MIRT892691	hsa-miR-759	CLIP-seq
MIRT2503451	hsa-miR-875-5p	CLIP-seq
MIRT2200780	hsa-miR-876-3p	CLIP-seq
MIRT2503452	hsa-miR-888	CLIP-seq
MIRT892649	hsa-miR-1204	CLIP-seq
MIRT2503431	hsa-miR-1208	CLIP-seq
MIRT2200729	hsa-miR-1248	CLIP-seq
MIRT2200730	hsa-miR-1268	CLIP-seq
MIRT2200731	hsa-miR-1268b	CLIP-seq
MIRT1964578	hsa-miR-2052	CLIP-seq
MIRT2503432	hsa-miR-2355-5p	CLIP-seq
MIRT2503433	hsa-miR-297	CLIP-seq
MIRT1964581	hsa-miR-3133	CLIP-seq
MIRT2200743	hsa-miR-323-5p	CLIP-seq
MIRT2200744	hsa-miR-3613-3p	CLIP-seq
MIRT2200745	hsa-miR-3650	CLIP-seq
MIRT2503434	hsa-miR-3672	CLIP-seq
MIRT2503435	hsa-miR-3679-3p	CLIP-seq
MIRT1964585	hsa-miR-371-5p	CLIP-seq
MIRT1964586	hsa-miR-371b-5p	CLIP-seq
MIRT2503436	hsa-miR-3942-3p	CLIP-seq
MIRT2503437	hsa-miR-412	CLIP-seq
MIRT2503438	hsa-miR-4297	CLIP-seq
MIRT2503439	hsa-miR-4307	CLIP-seq
MIRT2678201	hsa-miR-4435	CLIP-seq
MIRT2503440	hsa-miR-4446-5p	CLIP-seq
MIRT2200751	hsa-miR-4486	CLIP-seq
MIRT2503441	hsa-miR-4539	CLIP-seq
MIRT2200755	hsa-miR-4661-5p	CLIP-seq
MIRT2503442	hsa-miR-4678	CLIP-seq
MIRT2447061	hsa-miR-4684-5p	CLIP-seq
MIRT2503443	hsa-miR-4777-3p	CLIP-seq
MIRT2503444	hsa-miR-4778-3p	CLIP-seq
MIRT892677	hsa-miR-4797-5p	CLIP-seq
MIRT2503445	hsa-miR-488	CLIP-seq
MIRT2503446	hsa-miR-520d-5p	CLIP-seq
MIRT2503447	hsa-miR-524-5p	CLIP-seq
MIRT892682	hsa-miR-548aa	CLIP-seq
MIRT2200767	hsa-miR-548ae	CLIP-seq
MIRT2200768	hsa-miR-548aj	CLIP-seq
MIRT2200769	hsa-miR-548am	CLIP-seq
MIRT2447062	hsa-miR-548c-3p	CLIP-seq
MIRT2503448	hsa-miR-548m	CLIP-seq
MIRT2200772	hsa-miR-548x	CLIP-seq
MIRT2200773	hsa-miR-550a	CLIP-seq
MIRT2503449	hsa-miR-567	CLIP-seq
MIRT2200777	hsa-miR-585	CLIP-seq
MIRT892691	hsa-miR-759	CLIP-seq
MIRT2503451	hsa-miR-875-5p	CLIP-seq
MIRT2200780	hsa-miR-876-3p	CLIP-seq
MIRT2503452	hsa-miR-888	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0002063	Process	Chondrocyte development	IEA
GO:0005576	Component	Extracellular region	IDA	21129727
GO:0005576	Component	Extracellular region	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0009954	Process	Proximal/distal pattern formation	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030279	Process	Negative regulation of ossification	IMP	21129727
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IBA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IDA	11514575
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	IEA
GO:0047238	Function	Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity	TAS
GO:0050510	Function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IDA	11514575
GO:0050510	Function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	IEA
GO:0050510	Function	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	TAS
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	11514575
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	12716890
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	TAS
GO:0051216	Process	Cartilage development	IEA
GO:0051923	Process	Sulfation	IEA
GO:0060349	Process	Bone morphogenesis	IEA

Other IDs

• MIM: 608183
• HGNC: 17198
• e!Ensembl: ENSG00000131873

Protein

• UniProt ID: Q86X52
• Protein name: Chondroitin sulfate synthase 1 (EC 2.4.1.175) (EC 2.4.1.226) (Chondroitin glucuronyltransferase 1) (Chondroitin synthase 1) (ChSy-1) (Glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase 1) (N-acetylgalactosaminyl-prot
• Protein function: Has both beta-1,3-glucuronic acid and beta-1,4-N-acetylgalactosamine transferase activity. Transfers glucuronic acid (GlcUA) from UDP-GlcUA and N-acetylgalactosamine (GalNAc) from UDP-GalNAc to the non-reducing end of the elongating chondroitin
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05679	CHGN	238 → 777	Chondroitin N-acetylgalactosaminyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous, with the highest levels in placenta. Detected at low levels in brain, heart, skeletal muscle, colon, thymus, spleen, kidney, liver, adrenal gland, mammary gland, stomach, small intestine, lung and peripheral blood leukocyte
• Sequence:

  MAARGRRAWLSVLLGLVLGFVLASRLVLPRASELKRAGPRRRASPEGCRSGQAAASQAGG
  ARGDARGAQLWPPGSDPDGGPRDRNFLFVGVMTAQKYLQTRAVAAYRTWSKTIPGKVQFF
  SSEGSDTSVPIPVVPLRGVDDSYPPQKKSFMMLKYMHDHYLDKYEWFMRADDDVYIKGDR
  LENFLRSLNSSEPLFLGQTGLGTTEEMGKLALEPGENFCMGGPGVIMSREVLRRMVPHIG
  KCLREMYTTHEDVEVGRCVRRFAGVQCVWSYEMQQLFYENYEQNKKGYIRDLHNSKIHQA
  ITLHPNKNPPYQYRLHSYMLSRKISELRHRTIQLHREIVLMSKYSNTEIHKEDLQLGIPP
  SFMRFQPRQREEILEWEFLTGKYLYSAVDGQPPRRGMDSAQREALDDIVMQVMEMINANA
  KTRGRIIDFKEIQYGYRRVNPMYGAEYILDLLLLYKKHKGKKMTVPVRRHAYLQQTFSKI
  QFVEHEELDAQELAKRINQESGSLSFLSNSLKKLVPFQLPGSKSEHKEPKDKKINILIPL
  SGRFDMFVRFMGNFEKTCLIPNQNVKLVVLLFNSDSNPDKAKQVELMRDYRIKYPKADMQ
  ILPVSGEFSRALALEVGSSQFNNESLLFFCDVDLVFTTEFLQRCRANTVLGQQIYFPIIF
  SQYDPKIVYSGKVPSDNHFAFTQKTGFWRNYGFGITCIYKGDLVRVGGFDVSIQGWGLED
  VDLFNKVVQAGLKTFRSQEVGVVHVHHPVFCDPNLDPKQYKMCLGSKASTYGSTQQLAEM
  WLEKNDPSYSKSSNNNGSVRTA

• Sequence length: 802

Pathways

KEGG:

Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
Metabolic pathways

Reactome:

Chondroitin sulfate biosynthesis
Defective CHSY1 causes TPBS

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
Temtamy preaxial brachydactyly syndrome	Pathogenic	rs2039109846, rs1567112402, rs387906984, rs1567106459, rs387906985, rs1596459125	RCV000023688 RCV000023689 RCV000023690 RCV000023691 RCV000023692 RCV000023693	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHSY1-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
IMMUNE SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Aortic Dissection	Aortic dissection	Pubtator	37684281	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30344756		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	21129727, 22280990		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	Pubtator	21129727	Associate	★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29984655		★☆☆☆☆ Found in Text Mining only
Carpal synostosis	Carpal synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Childhood Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30344756		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	31767633		★☆☆☆☆ Found in Text Mining only
Cutaneous finger syndactyly	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	33357046	Associate	★☆☆☆☆ Found in Text Mining only
Fibromyxosarcoma	Fibromyxosarcoma	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21129727		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	21129727	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21129727		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	28514734	Inhibit	★☆☆☆☆ Found in Text Mining only
Limb Deformities, Congenital	Congenital anomaly of limb	BEFREE	21129728		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28652022		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Cutaneous	Cutaneous lupus erythematosus	Pubtator	21378287	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29984655		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26997434, 30344756		★☆☆☆☆ Found in Text Mining only
Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Microdontia (disorder)	Microdontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	23811343		★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22197933		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	23811343		★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	26997434		★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	GENOMICS_ENGLAND_DG	15365460, 21129727, 21129728, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	UNIPROT_DG	21129727, 21129728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	BEFREE	21129728, 24269551		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	ORPHANET_DG	21129728		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Temtamy preaxial brachydactyly syndrome	Temtamy Preaxial Brachydactyly Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)