COL6A1 (collagen type VI alpha 1 chain)

Gene

• Entrez ID: 1291
• Gene name: Collagen type VI alpha 1 chain
• Gene symbol: COL6A1
• Synonyms: BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A
• Chromosome: 21
• Chromosome location: 21q22.3
• Summary: The collagens are a superfamily of proteins that play a role in maintaining the integrity of various tissues. Collagens are extracellular matrix proteins and have a triple-helical domain as their common structural element. Collagen VI is a major structura

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs9637170	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs11702055	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs75180385	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs111451684	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs112104768	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs112814811	G>A,C	Likely-pathogenic	Splice acceptor variant
rs117583120	A>C,G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121912934	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912935	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912936	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912937	C>G,T	Pathogenic, likely-benign	Synonymous variant, coding sequence variant, stop gained
rs121912938	G>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121912939	G>A,C,T	Pathogenic	Missense variant, coding sequence variant
rs137964147	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs138899581	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138976133	G>A,C,T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139018148	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139148709	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139243418	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139648899	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140427635	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140478280	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs140534207	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141663473	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142102852	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs143438559	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs143502850	C>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143755280	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs144282452	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144358858	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144814689	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs144887329	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs146071423	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs148630223	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149338158	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs149910296	C>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150686304	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs182440627	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs184484842	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200023632	C>A,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs200124802	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200334019	G>A,C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs267606746	G>A	Pathogenic	Missense variant, coding sequence variant
rs367832752	G>A,C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369502543	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369590506	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs369802454	C>A,G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370632963	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs370780432	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs371841573	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs372581026	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372931456	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs373948031	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs376055208	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs376567898	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs377213930	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs377455608	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs398123631	G>A	Pathogenic	Splice donor variant
rs398123638	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs398123639	A>G	Pathogenic	Splice acceptor variant
rs398123640	G>A,C	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs398123643	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs398123644	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs536786554	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs540554122	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant
rs552239546	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs573282005	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs747037863	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs749529856	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs753063150	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs756141940	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs759918870	ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC>-	Pathogenic	Splice donor variant, coding sequence variant, intron variant
rs759989949	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, missense variant, coding sequence variant
rs760768642	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs762867111	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs764129993	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs764556767	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs767176038	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs768508076	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs770671793	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs786205555	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727028	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs794727060	T>C	Pathogenic	Splice donor variant
rs794727121	G>A	Pathogenic	Missense variant, coding sequence variant
rs797044456	T>C	Pathogenic	Splice donor variant
rs797044457	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs797044458	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs797045477	A>C,G	Pathogenic	Splice acceptor variant
rs878854398	A>-	Uncertain-significance, pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs886041383	G>A	Pathogenic	Missense variant, coding sequence variant
rs886042354	G>A,C	Pathogenic	Splice acceptor variant
rs886042391	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs886042646	GG>AA	Likely-pathogenic	Missense variant, coding sequence variant
rs886042684	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886042748	G>A	Pathogenic	Splice donor variant
rs886042856	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs886042902	G>A	Pathogenic	Splice donor variant
rs886043106	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs886043114	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs886043147	CATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043291	GGCTCGCCCGGGTT>-	Pathogenic	Stop gained, coding sequence variant
rs886043321	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs886043330	G>A,T	Pathogenic	Splice acceptor variant
rs886043351	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs886043354	TCCGGGGC>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043521	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs886043700	G>A,T	Pathogenic	Splice donor variant
rs886044231	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs886044535	G>A	Pathogenic	Splice donor variant
rs890068806	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs940473416	A>G	Pathogenic	Splice acceptor variant
rs1002726737	G>A	Likely-pathogenic	Splice donor variant
rs1057518005	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057519174	A>G	Pathogenic-likely-pathogenic	Splice acceptor variant
rs1057520625	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs1057521152	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057522053	C>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1064793840	G>A	Pathogenic	Coding sequence variant, missense variant
rs1064797287	G>A	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1249738773	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1304888945	C>T	Pathogenic	Coding sequence variant, stop gained
rs1322590833	T>G	Pathogenic	Splice donor variant
rs1391624796	C>T	Pathogenic	Stop gained, coding sequence variant
rs1556423703	AGACTGCC>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1556423728	C>-	Pathogenic	Stop gained, coding sequence variant
rs1556425467	G>C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1556425468	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1556425474	AGCCGGAGA>-	Uncertain-significance, likely-pathogenic	Inframe deletion, coding sequence variant
rs1556425531	G>C	Pathogenic	Splice acceptor variant
rs1556425566	G>A	Pathogenic	Missense variant, coding sequence variant
rs1556425596	C>T	Pathogenic	Intron variant
rs1556425679	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1556425687	GGTGAGCG>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1556425717	A>G	Likely-pathogenic	Splice acceptor variant
rs1556425832	TCCTCTTTCCAGGGGG>GGA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1556425835	A>-	Pathogenic	Splice acceptor variant
rs1556425853	G>-	Pathogenic	Splice donor variant
rs1569517717	G>A	Pathogenic	Splice donor variant
rs1569517943	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569518070	AAC>-	Likely-pathogenic	Inframe indel, coding sequence variant
rs1569518119	G>T	Pathogenic	Splice donor variant
rs1569518138	A>G	Likely-pathogenic	Intron variant
rs1569518481	T>G	Likely-pathogenic	Splice donor variant
rs1569518677	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1569518725	AG>-	Likely-pathogenic	Splice acceptor variant
rs1569518771	GG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1569519030	G>T	Likely-pathogenic	Splice acceptor variant
rs1569519109	C>T	Pathogenic	Stop gained, coding sequence variant
rs1603590637	G>A	Pathogenic	Missense variant, coding sequence variant
rs1603590641	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1603590649	G>T	Pathogenic	Missense variant, coding sequence variant
rs1603593491	->ACCG	Likely-pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018149	hsa-miR-335-5p	Microarray	18185580
MIRT051548	hsa-let-7e-5p	CLASH	23622248
MIRT043222	hsa-miR-324-5p	CLASH	23622248
MIRT039896	hsa-miR-615-3p	CLASH	23622248
MIRT037192	hsa-miR-877-3p	CLASH	23622248
MIRT035972	hsa-miR-1301-3p	CLASH	23622248
MIRT756087	hsa-miR-202-3p	Western blotting, qRT-PCR	37226011
MIRT903122	hsa-miR-23a	CLIP-seq
MIRT903123	hsa-miR-23b	CLIP-seq
MIRT903124	hsa-miR-23c	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT903128	hsa-miR-3664-5p	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT903130	hsa-miR-4714-5p	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT903135	hsa-miR-584	CLIP-seq
MIRT1547252	hsa-miR-103a	CLIP-seq
MIRT1547253	hsa-miR-107	CLIP-seq
MIRT1547254	hsa-miR-1178	CLIP-seq
MIRT1547255	hsa-miR-1226	CLIP-seq
MIRT1547256	hsa-miR-1253	CLIP-seq
MIRT1547257	hsa-miR-1286	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT1547267	hsa-miR-3144-5p	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT1547268	hsa-miR-3150b-3p	CLIP-seq
MIRT1547269	hsa-miR-3155	CLIP-seq
MIRT1547270	hsa-miR-3155b	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547272	hsa-miR-3191	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT1547275	hsa-miR-34c-3p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT1547278	hsa-miR-3664-3p	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT1547281	hsa-miR-3975	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547286	hsa-miR-4433	CLIP-seq
MIRT1547287	hsa-miR-4434	CLIP-seq
MIRT1547288	hsa-miR-4456	CLIP-seq
MIRT1547289	hsa-miR-4459	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT1547294	hsa-miR-4516	CLIP-seq
MIRT1547295	hsa-miR-4530	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547298	hsa-miR-4652-5p	CLIP-seq
MIRT1547299	hsa-miR-4654	CLIP-seq
MIRT1547300	hsa-miR-4668-5p	CLIP-seq
MIRT1547301	hsa-miR-4689	CLIP-seq
MIRT1547302	hsa-miR-4710	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547304	hsa-miR-4733-3p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT1547310	hsa-miR-4768-3p	CLIP-seq
MIRT1547311	hsa-miR-4769-5p	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547313	hsa-miR-4784	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT1547315	hsa-miR-484	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT1547317	hsa-miR-541	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547320	hsa-miR-634	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547323	hsa-miR-654-5p	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2203632	hsa-miR-4651	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT2203633	hsa-miR-491-5p	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT2203634	hsa-miR-608	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2427791	hsa-miR-1185	CLIP-seq
MIRT1547256	hsa-miR-1253	CLIP-seq
MIRT2427792	hsa-miR-1258	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT2427793	hsa-miR-1323	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT2427794	hsa-miR-148a	CLIP-seq
MIRT2427795	hsa-miR-148b	CLIP-seq
MIRT2427796	hsa-miR-152	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT903122	hsa-miR-23a	CLIP-seq
MIRT903123	hsa-miR-23b	CLIP-seq
MIRT903124	hsa-miR-23c	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT1547267	hsa-miR-3144-5p	CLIP-seq
MIRT903126	hsa-miR-3148	CLIP-seq
MIRT1547268	hsa-miR-3150b-3p	CLIP-seq
MIRT2427799	hsa-miR-3153	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547272	hsa-miR-3191	CLIP-seq
MIRT903127	hsa-miR-3201	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT1547275	hsa-miR-34c-3p	CLIP-seq
MIRT2427801	hsa-miR-3605-5p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT2427802	hsa-miR-3647-3p	CLIP-seq
MIRT903128	hsa-miR-3664-5p	CLIP-seq
MIRT2427803	hsa-miR-3675-5p	CLIP-seq
MIRT2427804	hsa-miR-3679-5p	CLIP-seq
MIRT2427805	hsa-miR-3688-5p	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT1547281	hsa-miR-3975	CLIP-seq
MIRT903129	hsa-miR-3978	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2427809	hsa-miR-4291	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547287	hsa-miR-4434	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT1547294	hsa-miR-4516	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547298	hsa-miR-4652-5p	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT1547300	hsa-miR-4668-5p	CLIP-seq
MIRT2427812	hsa-miR-4675	CLIP-seq
MIRT2427813	hsa-miR-4685-5p	CLIP-seq
MIRT2427814	hsa-miR-4687-5p	CLIP-seq
MIRT1547301	hsa-miR-4689	CLIP-seq
MIRT2427815	hsa-miR-4697-3p	CLIP-seq
MIRT1547302	hsa-miR-4710	CLIP-seq
MIRT903130	hsa-miR-4714-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2427816	hsa-miR-4740-3p	CLIP-seq
MIRT2427817	hsa-miR-4741	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547313	hsa-miR-4784	CLIP-seq
MIRT903131	hsa-miR-4791	CLIP-seq
MIRT903132	hsa-miR-4802-3p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT903133	hsa-miR-490-5p	CLIP-seq
MIRT2427819	hsa-miR-499-3p	CLIP-seq
MIRT2427820	hsa-miR-499a-3p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2427822	hsa-miR-509-3p	CLIP-seq
MIRT2427823	hsa-miR-512-3p	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT1547317	hsa-miR-541	CLIP-seq
MIRT903134	hsa-miR-545	CLIP-seq
MIRT2427825	hsa-miR-548a-5p	CLIP-seq
MIRT2427826	hsa-miR-548aa	CLIP-seq
MIRT2427827	hsa-miR-548ab	CLIP-seq
MIRT2427828	hsa-miR-548ac	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2427830	hsa-miR-548ak	CLIP-seq
MIRT2427831	hsa-miR-548b-5p	CLIP-seq
MIRT2427832	hsa-miR-548c-3p	CLIP-seq
MIRT2427833	hsa-miR-548c-5p	CLIP-seq
MIRT2427834	hsa-miR-548d-3p	CLIP-seq
MIRT2427835	hsa-miR-548d-5p	CLIP-seq
MIRT2427836	hsa-miR-548h	CLIP-seq
MIRT2427837	hsa-miR-548i	CLIP-seq
MIRT2427838	hsa-miR-548j	CLIP-seq
MIRT2427839	hsa-miR-548k	CLIP-seq
MIRT2427840	hsa-miR-548l	CLIP-seq
MIRT2427841	hsa-miR-548o	CLIP-seq
MIRT2427842	hsa-miR-548p	CLIP-seq
MIRT2427843	hsa-miR-548w	CLIP-seq
MIRT2427844	hsa-miR-548y	CLIP-seq
MIRT2427845	hsa-miR-548z	CLIP-seq
MIRT2427846	hsa-miR-559	CLIP-seq
MIRT903135	hsa-miR-584	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547323	hsa-miR-654-5p	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427847	hsa-miR-922	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT1547255	hsa-miR-1226	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT1547257	hsa-miR-1286	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT2436362	hsa-miR-1296	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT2427794	hsa-miR-148a	CLIP-seq
MIRT2427795	hsa-miR-148b	CLIP-seq
MIRT2427796	hsa-miR-152	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547261	hsa-miR-214	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT1547274	hsa-miR-325	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT1547276	hsa-miR-3617	CLIP-seq
MIRT1547277	hsa-miR-3619-5p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT1547278	hsa-miR-3664-3p	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427805	hsa-miR-3688-5p	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT2436371	hsa-miR-3921	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2427809	hsa-miR-4291	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT1547286	hsa-miR-4433	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547289	hsa-miR-4459	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2436373	hsa-miR-4512	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT1547295	hsa-miR-4530	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT2436376	hsa-miR-4653-5p	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT2427812	hsa-miR-4675	CLIP-seq
MIRT2427813	hsa-miR-4685-5p	CLIP-seq
MIRT2427814	hsa-miR-4687-5p	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2427815	hsa-miR-4697-3p	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547304	hsa-miR-4733-3p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT2436385	hsa-miR-4738-5p	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2427817	hsa-miR-4741	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547310	hsa-miR-4768-3p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT2427823	hsa-miR-512-3p	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq
MIRT1547319	hsa-miR-628-3p	CLIP-seq
MIRT1547320	hsa-miR-634	CLIP-seq
MIRT1547321	hsa-miR-641	CLIP-seq
MIRT1547324	hsa-miR-761	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2427847	hsa-miR-922	CLIP-seq
MIRT1547254	hsa-miR-1178	CLIP-seq
MIRT1547259	hsa-miR-138	CLIP-seq
MIRT1547269	hsa-miR-3155	CLIP-seq
MIRT1547270	hsa-miR-3155b	CLIP-seq
MIRT1547279	hsa-miR-3915	CLIP-seq
MIRT1547280	hsa-miR-3928	CLIP-seq
MIRT1547283	hsa-miR-4303	CLIP-seq
MIRT2447450	hsa-miR-431	CLIP-seq
MIRT1547285	hsa-miR-4428	CLIP-seq
MIRT1547290	hsa-miR-4464	CLIP-seq
MIRT1547292	hsa-miR-4476	CLIP-seq
MIRT1547296	hsa-miR-4533	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT1547307	hsa-miR-4748	CLIP-seq
MIRT1547312	hsa-miR-4778-5p	CLIP-seq
MIRT1547315	hsa-miR-484	CLIP-seq
MIRT2427790	hsa-miR-1182	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT1547258	hsa-miR-1321	CLIP-seq
MIRT2506692	hsa-miR-146b-3p	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT1547260	hsa-miR-1913	CLIP-seq
MIRT2427797	hsa-miR-193a-5p	CLIP-seq
MIRT2427798	hsa-miR-198	CLIP-seq
MIRT1547262	hsa-miR-216a	CLIP-seq
MIRT1547263	hsa-miR-216b	CLIP-seq
MIRT1547264	hsa-miR-29a	CLIP-seq
MIRT1547265	hsa-miR-29b	CLIP-seq
MIRT1547266	hsa-miR-29c	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT1547271	hsa-miR-3189-5p	CLIP-seq
MIRT1547273	hsa-miR-324-3p	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT2436371	hsa-miR-3921	CLIP-seq
MIRT2427807	hsa-miR-3944-5p	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT2506693	hsa-miR-4267	CLIP-seq
MIRT2427808	hsa-miR-4283	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT1547284	hsa-miR-4419a	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT1547291	hsa-miR-4468	CLIP-seq
MIRT1547293	hsa-miR-4510	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT1967783	hsa-miR-455-3p	CLIP-seq
MIRT1967784	hsa-miR-4645-5p	CLIP-seq
MIRT1547297	hsa-miR-4649-3p	CLIP-seq
MIRT2436376	hsa-miR-4653-5p	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2427811	hsa-miR-4658	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT1967785	hsa-miR-4673	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT1547303	hsa-miR-4728-5p	CLIP-seq
MIRT1547305	hsa-miR-4734	CLIP-seq
MIRT2436385	hsa-miR-4738-5p	CLIP-seq
MIRT1547306	hsa-miR-4739	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT1547308	hsa-miR-4756-5p	CLIP-seq
MIRT1547309	hsa-miR-4758-3p	CLIP-seq
MIRT2427818	hsa-miR-4758-5p	CLIP-seq
MIRT1547314	hsa-miR-483-5p	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT1547316	hsa-miR-516a-5p	CLIP-seq
MIRT2427824	hsa-miR-526b	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT1967786	hsa-miR-593	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq
MIRT1547318	hsa-miR-604	CLIP-seq
MIRT1547322	hsa-miR-647	CLIP-seq
MIRT1547325	hsa-miR-765	CLIP-seq
MIRT2436357	hsa-miR-1225-3p	CLIP-seq
MIRT2436358	hsa-miR-1233	CLIP-seq
MIRT2436359	hsa-miR-125a-3p	CLIP-seq
MIRT2436360	hsa-miR-1266	CLIP-seq
MIRT2436361	hsa-miR-1291	CLIP-seq
MIRT2506692	hsa-miR-146b-3p	CLIP-seq
MIRT2436363	hsa-miR-1539	CLIP-seq
MIRT2436364	hsa-miR-3117-5p	CLIP-seq
MIRT903125	hsa-miR-3119	CLIP-seq
MIRT2436365	hsa-miR-3127-5p	CLIP-seq
MIRT2427800	hsa-miR-3161	CLIP-seq
MIRT2436366	hsa-miR-3173-5p	CLIP-seq
MIRT2436367	hsa-miR-330-3p	CLIP-seq
MIRT2436368	hsa-miR-3657	CLIP-seq
MIRT2436369	hsa-miR-3665	CLIP-seq
MIRT2427806	hsa-miR-376c	CLIP-seq
MIRT2436370	hsa-miR-3918	CLIP-seq
MIRT1547282	hsa-miR-4257	CLIP-seq
MIRT2506693	hsa-miR-4267	CLIP-seq
MIRT2436372	hsa-miR-4323	CLIP-seq
MIRT2427810	hsa-miR-4446-3p	CLIP-seq
MIRT2436374	hsa-miR-4514	CLIP-seq
MIRT2436375	hsa-miR-4518	CLIP-seq
MIRT2436377	hsa-miR-4656	CLIP-seq
MIRT2436378	hsa-miR-4661-5p	CLIP-seq
MIRT2436379	hsa-miR-4663	CLIP-seq
MIRT2436380	hsa-miR-4669	CLIP-seq
MIRT2436381	hsa-miR-4690-5p	CLIP-seq
MIRT2436382	hsa-miR-4692	CLIP-seq
MIRT2436383	hsa-miR-4704-5p	CLIP-seq
MIRT2436384	hsa-miR-4725-5p	CLIP-seq
MIRT2436386	hsa-miR-4751	CLIP-seq
MIRT2427821	hsa-miR-503	CLIP-seq
MIRT2436387	hsa-miR-504	CLIP-seq
MIRT2436388	hsa-miR-510	CLIP-seq
MIRT2427829	hsa-miR-548ad	CLIP-seq
MIRT2436389	hsa-miR-592	CLIP-seq
MIRT2436390	hsa-miR-599	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001649	Process	Osteoblast differentiation	HDA	16210410
GO:0005518	Function	Collagen binding	IPI	18400749
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	IDA	18400749
GO:0005576	Component	Extracellular region	TAS
GO:0005589	Component	Collagen type VI trimer	NAS	2551668
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0007155	Process	Cell adhesion	IEA
GO:0016020	Component	Membrane	HDA	16210410
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	ISS
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	RCA	20551380, 25037231, 27559042, 28327460, 28675934
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0032991	Component	Protein-containing complex	IPI	18400749
GO:0035987	Process	Endodermal cell differentiation	IEP	23154389
GO:0042383	Component	Sarcolemma	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	IBA	21873635
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0071230	Process	Cellular response to amino acid stimulus	IEA

Other IDs

• MIM: 120220
• HGNC: 2211
• e!Ensembl: ENSG00000142156

Protein

• UniProt ID: P12109
• Protein name: Collagen alpha-1(VI) chain
• Protein function: Collagen VI acts as a cell-binding protein.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00092	VWA	37 → 227	von Willebrand factor type A domain	Domain
  PF01391	Collagen	253 → 313	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	293 → 368	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	347 → 419	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	449 → 517	Collagen triple helix repeat (20 copies)	Repeat
  PF01391	Collagen	500 → 564	Collagen triple helix repeat (20 copies)	Repeat
  PF00092	VWA	615 → 784	von Willebrand factor type A domain	Domain
  PF00092	VWA	829 → 1019	von Willebrand factor type A domain	Domain

• Sequence:

  MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVD
  KVKSFTKRFIDNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAV
  KYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
  HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIK
  NNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEKGEAGDPGRPGDLGPVGYQGM
  KGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
  KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA
  PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGD
  EGPPGSEGARGAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTK
  GYPGLKGDEGEAGDPGDDNNDIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDII
  MKMCSCCECKCGPIDLLFVLDSSESIGLQNFEIAKDFVVKVIDRLSRDELVKFEPGQSYA
  GVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGGTFTGEALQYTRDQLLPPSPN
  NRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLNVISCQGLAPS
  QGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV
  GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTAL
  ASAVDAMDFINDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQ
  EAQRAGIEIFVVVVGRQVNEPHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQT
  VSRKVALG

• Sequence length: 1028

Pathways

KEGG:

PI3K-Akt signaling pathway
Focal adhesion
ECM-receptor interaction
Cytoskeleton in muscle cells
Protein digestion and absorption
Human papillomavirus infection

Reactome:

Collagen degradation
Collagen biosynthesis and modifying enzymes
Signaling by PDGF
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
ECM proteoglycans
NCAM1 interactions
Collagen chain trimerization

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634
Bethlem myopathy	BETHLEM MYOPATHY 1, Bethlem myopathy	rs121434553, rs121434555, rs139260335, rs796052093, rs796052094, rs1768488927	24801232, 22975586, 20976770, 17785674, 28877744, 11865138, 10419498, 28182637, 18825676, 23661642, 15955946, 24223098, 8218237, 8782832, 16130093, 28424332, 25535305, 19564581, 22075033, 23738969, 19884007, 19344236, 18366090, 24038877, 21280092, 15689448, 17886299, 27708273, 24271325, 21520333, 7695699, 12840783, 26867126, 29417091
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Congenital muscular dystrophy	Congenital muscular dystrophy (disorder), Congenital muscular dystrophy, Ullrich type	rs1565627745, rs774985604, rs1565629479, rs121913572, rs121913575, rs121913576, rs58932704, rs58912633, rs121912495, rs121912496, rs60458016, rs387906881, rs750764003, rs387907068, rs786205117, rs387907069, rs786205118, rs267607600, rs61672878, rs57629361, rs61444459, rs60872029, rs587780362, rs141554661, rs864309525, rs371751084, rs914395925, rs1060505038, rs766046008, rs1060505039, rs750781027, rs761612652, rs1060505040, rs749383757, rs776548207, rs1554269966, rs373091820, rs1553261891, rs1474512248, rs1333100080, rs1246940477, rs1554320168, rs372328960, rs1217190017, rs750756707, rs1555894289, rs1296761337, rs1562530132, rs1569054508, rs1565622052, rs1415944134, rs1565620275, rs752436924, rs1569054086, rs1583149141, rs17854600, rs757369551, rs755438542, rs1872274494, rs1874440714
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay, Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	23692979
Muscular dystrophy	Muscular Dystrophy	rs200198778, rs121908110, rs121908185, rs58932704, rs61672878, rs60458016, rs387906881, rs397509417, rs267607644, rs267607634, rs59332535, rs797045898, rs755660222, rs142908436, rs886039913, rs138945081, rs368970223, rs746855352, rs1553264624, rs1553265433, rs1553265436, rs1553265761, rs267607576, rs780302064, rs1557058294, rs1555352706, rs961440747, rs1185491348, rs1594796439, rs1603636710	20716577
Myopathy	Myopathy	rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Ullrich congenital muscular dystrophy	Ullrich congenital muscular dystrophy 1, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT	rs1601231322, rs748035948, rs1568931397, rs267606747, rs121912938, rs121912939, rs387906608, rs398122821, rs875989819, rs796052093, rs749974929, rs984314526, rs1582208315, rs1582196903	24038877, 17785674, 25535305, 15689448, 16130093, 18366090, 23738969

Unknown
Disease name	Disease term	dbSNP ID	References
Amyotrophy	Generalized amyotrophy, Proximal amyotrophy
Cardiovascular abnormalities	Cardiovascular Abnormalities
Congenital clubfoot	Congenital clubfoot
Congenital pectus carinatum	Congenital pectus carinatum
Congenital torticollis	Congenital torticollis
Diverticular diseases	Diverticular Diseases		30177863
Elbow flexion contracture	Flexion contracture - elbow
Esotropia	Esotropia
Facial paralysis	Facial paralysis
Flexion contracture of hip	Flexion contracture of hip
Flexion contracture of wrist	Flexion contracture - wrist
Heart failure	Heart Failure, Diastolic	rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741	29556499
High palate	Byzanthine arch palate
Lung neoplasms	Lung Neoplasms		23692979
Micrognathism	Micrognathism
Miscarriage	Miscarriage		18539642
Motor delay	Clumsiness - motor delay
Neurogenic urinary bladder	Neurogenic Urinary Bladder
Phrynoderma	Phrynoderma
Respiratory failure	Respiratory Failure
Sensorimotor neuropathy	Sensorimotor neuropathy
Sleep apnea	Sleep Apnea, Obstructive