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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	22856
Gene name	Chondroitin sulfate synthase 1
Gene symbol	CHSY1
Synonyms (NCBI Gene)	CHSYCSS1ChSy-1TPBS
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

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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

351

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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

Show/Hide all (32)

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

MIM	HGNC	e!Ensembl
608183	17198	ENSG00000131873

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

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Metabolic pathways		Chondroitin sulfate biosynthesis Defective CHSY1 causes TPBS

184

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Temtamy preaxial brachydactyly syndrome	Pathogenic	rs2039109846, rs1567112402, rs387906984, rs1567106459, rs387906985, rs1596459125	RCV000023688 RCV000023689 RCV000023690 RCV000023691 RCV000023692 RCV000023693

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Benign	rs8040019	RCV005920142
CHSY1-related disorder	Likely benign; Benign; Uncertain significance	rs150075110, rs142783588, rs148193087, rs74545602, rs2505672460, rs2038237333, rs2505673905, rs777695123, rs141305214	RCV003958646 RCV003913711 RCV003939939 RCV003930064 RCV003894543 RCV003964621 RCV003904437 RCV003895495 RCV004757383
Hearing impairment	Uncertain significance	rs1280894999	RCV000754563
Ovarian serous cystadenocarcinoma	Benign	rs189611932	RCV005915299
Uterine carcinosarcoma	Benign	rs8040019	RCV005920141

Show/Hide Text Mining Associations (7)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aortic Dissection	Associate	37684281
Brachydactyly	Associate	21129727
Esophageal Neoplasms	Associate	33357046
Glioblastoma	Associate	21129727
Inflammation	Associate	28514734
Intervertebral Disc Degeneration	Inhibit	28514734
Lupus Erythematosus Cutaneous	Associate	21378287

CHSY1 (chondroitin sulfate synthase 1)