GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

COL1A1 (collagen type I alpha 1 chain)

Gene

1277

Collagen type I alpha 1 chain

COL1A1

CAFYD, EDSARTH1, EDSC, OI1, OI2, OI3, OI4

17q21.33

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome Classical type, Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Show/Hide all(423)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1800211	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, intron variant
rs1800214	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs2586486	G>A,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs8179178	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs34940368	G>A,C	Likely-benign, pathogenic, benign	Synonymous variant, missense variant, coding sequence variant
rs56302025	TTTTTTTTT>-,TTT,TTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTGATTTTTTTTTTTTTTTTTTTTTTTTT	Conflicting-interpretations-of-pathogenicity, uncertain-significance	3 prime UTR variant
rs66490707	C>G,T	Pathogenic	Intron variant, splice donor variant
rs66523073	C>T	Pathogenic	Missense variant, coding sequence variant
rs66527965	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66555264	C>A,G,T	Pathogenic	Intron variant, splice donor variant
rs66664580	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66721653	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs66929517	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs67163049	C>A,G,T	Pathogenic	Splice acceptor variant
rs67364703	C>G,T	Pathogenic	Splice donor variant
rs67368147	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67394386	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67416837	C>G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67445413	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67507747	C>A,G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67543897	C>G,T	Pathogenic	Splice acceptor variant
rs67682641	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs67693970	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs67771061	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs67815019	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs67828806	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs67879854	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72645315	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72645317	C>A	Pathogenic	Missense variant, coding sequence variant
rs72645318	G>A	Pathogenic	Stop gained, coding sequence variant
rs72645320	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645321	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645323	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645328	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs72645331	C>A	Pathogenic	Missense variant, coding sequence variant
rs72645332	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs72645333	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645334	C>T	Pathogenic	Missense variant, coding sequence variant
rs72645337	C>G	Pathogenic	Missense variant, coding sequence variant
rs72645341	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72645347	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72645350	C>T	Pathogenic	Intron variant
rs72645352	C>G,T	Pathogenic	Intron variant, splice acceptor variant
rs72645353	C>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72645356	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645357	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645361	C>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs72645365	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645366	G>A,C	Pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs72645367	C>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72645368	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72645369	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72645370	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72648313	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648316	TTAC>-	Likely-pathogenic	Intron variant, splice donor variant
rs72648319	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648320	C>T	Pathogenic	Intron variant, splice donor variant
rs72648321	C>A,G,T	Pathogenic	Intron variant, splice acceptor variant
rs72648322	C>A,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648325	C>G,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72648326	G>A	Pathogenic	Stop gained, intron variant, coding sequence variant
rs72648330	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648333	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648337	C>G,T	Pathogenic	Intron variant
rs72648339	C>A,T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs72648343	G>A,T	Pathogenic	Stop gained, intron variant, coding sequence variant, synonymous variant
rs72648346	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72648352	C>A,G,T	Likely-pathogenic, pathogenic	Intron variant, splice acceptor variant
rs72648356	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72648357	C>G,T	Pathogenic	Intron variant, splice donor variant
rs72648363	C>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72651614	G>A,C	Pathogenic	Stop gained, intron variant, missense variant, coding sequence variant
rs72651618	GCC>-	Pathogenic	Intron variant, inframe indel, coding sequence variant
rs72651620	GGGG>-,GGG	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72651622	C>G,T	Pathogenic	Intron variant, splice donor variant
rs72651634	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72651635	A>C	Pathogenic	Splice donor variant
rs72651640	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72651642	G>A	Pathogenic	Stop gained, coding sequence variant
rs72651644	A>C,T	Pathogenic	Splice donor variant
rs72651645	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651646	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651647	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651651	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72651653	C>A	Pathogenic	Missense variant, coding sequence variant
rs72651657	C>A	Pathogenic	Missense variant, coding sequence variant
rs72651658	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651661	C>T	Pathogenic	Missense variant, coding sequence variant
rs72651667	C>G,T	Pathogenic	Splice acceptor variant
rs72653131	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653133	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72653136	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653137	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653140	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72653143	C>A	Pathogenic	Missense variant, coding sequence variant
rs72653147	G>A,C,T	Pathogenic	Stop gained, missense variant, coding sequence variant, synonymous variant
rs72653150	C>G,T	Pathogenic	Splice donor variant
rs72653151	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72653152	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72653154	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs72653155	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs72653156	C>T	Pathogenic	Intron variant, splice donor variant
rs72653166	C>A	Pathogenic	Missense variant, coding sequence variant
rs72653168	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs72653169	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653170	G>A	Pathogenic	Missense variant, coding sequence variant
rs72653171	T>A,C	Pathogenic	Splice acceptor variant
rs72653172	C>T	Pathogenic	Missense variant, coding sequence variant
rs72653173	G>A,C	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72653177	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs72653178	C>T	Pathogenic	Missense variant, coding sequence variant
rs72654794	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs72654797	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs72654799	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs72654802	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656303	C>A	Pathogenic	Missense variant, coding sequence variant
rs72656306	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656314	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs72656321	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656324	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs72656326	C>T	Pathogenic	Splice donor variant
rs72656330	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656331	C>A	Pathogenic	Missense variant, coding sequence variant
rs72656332	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656337	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs72656338	C>T	Pathogenic	Missense variant, coding sequence variant
rs72656340	T>C	Pathogenic	Missense variant, coding sequence variant
rs72656343	C>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs72656352	GAATT>-	Pathogenic	Frameshift variant, coding sequence variant
rs72656353	A>G	Pathogenic	Missense variant, coding sequence variant
rs72667012	A>G	Pathogenic	Splice donor variant
rs72667014	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs72667016	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs72667019	T>A,C	Pathogenic	Splice acceptor variant
rs72667020	C>A,G,T	Pathogenic	Splice acceptor variant
rs72667022	C>T	Pathogenic	Missense variant, coding sequence variant
rs72667023	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs72667029	C>A	Pathogenic	Missense variant, coding sequence variant
rs72667031	C>A	Pathogenic	Missense variant, coding sequence variant
rs72667036	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs72667037	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs74315111	AGCACCAGG>-,AGCACCAGGAGCACCAGG	Pathogenic	Inframe deletion, inframe insertion, coding sequence variant
rs111594467	C>A,T	Pathogenic	Splice acceptor variant, intron variant
rs111953130	C>G,T	Pathogenic	Splice donor variant
rs113950465	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs115997082	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs138570309	C>A,T	Pathogenic	Missense variant, coding sequence variant, intron variant, stop gained
rs139593707	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs139955975	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs141011435	C>A,G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, stop gained
rs144751329	C>A,T	Likely-pathogenic, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs147936946	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs150572711	G>-,GG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922137	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922138	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922139	C>T	Likely-pathogenic	Intron variant
rs193922140	C>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922141	T>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922143	A>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922144	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs193922145	G>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs193922147	C>A,G	Likely-pathogenic	Splice acceptor variant
rs193922148	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922149	G>-,GG	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs193922150	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922151	A>-	Pathogenic, likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs193922152	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922153	G>A	Uncertain-significance, likely-benign, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs193922154	CT>-	Likely-pathogenic	Coding sequence variant, splice acceptor variant
rs193922155	T>C	Likely-pathogenic	Splice acceptor variant
rs193922157	C>A,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs193922158	T>C	Likely-pathogenic	Splice acceptor variant
rs200319927	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs200620805	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs201136122	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs370865189	G>A,C,T	Benign, pathogenic, uncertain-significance, likely-benign	Intron variant
rs373041336	C>A,T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs377123276	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs397514672	G>A	Pathogenic	Coding sequence variant, missense variant
rs398122835	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs753683126	C>A,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs754555549	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, synonymous variant, missense variant
rs759665341	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs762428889	G>A,T	Likely-benign, pathogenic	Coding sequence variant, stop gained, synonymous variant, intron variant
rs762780039	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs762979302	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs765659555	C>T	Pathogenic	Coding sequence variant, missense variant
rs786205504	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs786205505	A>C	Likely-pathogenic	Intron variant
rs786205506	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs786205507	A>G,T	Likely-pathogenic, pathogenic	Intron variant, splice donor variant
rs794726873	G>A	Pathogenic	Coding sequence variant, stop gained
rs794727319	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs794727394	A>C	Pathogenic	Intron variant, splice donor variant
rs797045033	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs865999256	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs867628651	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs868166455	G>A	Pathogenic	Coding sequence variant, stop gained
rs878853274	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs886039693	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs886039726	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs886039880	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs886041552	G>T	Pathogenic	Coding sequence variant, stop gained
rs886041817	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041866	C>G	Pathogenic	Intron variant
rs886041871	TGC>GGCAACA	Pathogenic	Coding sequence variant, frameshift variant
rs886041904	C>T	Pathogenic	Missense variant, coding sequence variant
rs886042260	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886042286	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042308	C>A	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs886042473	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042602	T>C	Pathogenic	Splice acceptor variant
rs886042603	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs886042609	G>T	Pathogenic	Coding sequence variant, stop gained
rs886043749	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs886044125	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs946705319	A>G,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs1057518221	C>T	Pathogenic	Coding sequence variant, missense variant
rs1057518930	C>G	Pathogenic	Splice donor variant
rs1057524547	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064796200	CA>-	Pathogenic	Coding sequence variant, splice donor variant
rs1064796341	GCCAGGGCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1064796415	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1064796499	C>T	Pathogenic	Coding sequence variant, missense variant
rs1085307454	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1114167374	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167375	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167377	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167378	C>T	Pathogenic	Splice donor variant
rs1114167379	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167380	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167381	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167382	C>T	Pathogenic	Splice donor variant
rs1114167384	ATTGGTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167385	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167386	A>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1114167387	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167388	C>G	Pathogenic	Coding sequence variant, missense variant
rs1114167389	TC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167390	C>T	Pathogenic	Splice donor variant
rs1114167391	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167392	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167393	TTAC>-	Pathogenic	Intron variant, splice donor variant
rs1114167394	C>T	Pathogenic	Splice acceptor variant, intron variant
rs1114167395	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1114167396	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167398	CGAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167399	G>A	Pathogenic	Coding sequence variant, stop gained
rs1114167400	->GCCCT	Pathogenic	Frameshift variant, coding sequence variant
rs1114167401	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167402	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs1114167403	G>A	Pathogenic	Coding sequence variant, missense variant
rs1114167405	->G,GGGG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167406	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1114167407	G>-,GG	Pathogenic	Frameshift variant, coding sequence variant
rs1114167408	C>T	Pathogenic	Coding sequence variant, missense variant
rs1114167409	TTGGCC>-	Pathogenic	Coding sequence variant, inframe deletion
rs1114167410	C>T	Pathogenic	Coding sequence variant, missense variant
rs1114167411	->ACCATCA	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1131691607	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1131692320	C>T	Pathogenic	Coding sequence variant, missense variant
rs1135401953	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs1181095991	C>T	Pathogenic	Splice donor variant
rs1228746935	G>A,C	Pathogenic	Coding sequence variant, intron variant, missense variant, stop gained
rs1260429820	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1298621011	C>T	Pathogenic	Splice donor variant
rs1328384458	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1473458290	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555571529	->CCACATC	Pathogenic	Frameshift variant, coding sequence variant
rs1555571536	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571589	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555571647	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555571755	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555571766	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555571849	T>C	Pathogenic	Coding sequence variant, missense variant
rs1555571874	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555571916	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555571942	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555572013	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555572015	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555572024	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555572120	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555572121	->TC	Pathogenic	Frameshift variant, coding sequence variant
rs1555572125	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572161	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555572239	C>G,T	Pathogenic	Splice donor variant
rs1555572249	GGGGCCAGGGGCAC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572254	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555572315	A>T	Likely-pathogenic	Splice donor variant
rs1555572316	C>T	Likely-pathogenic	Splice donor variant
rs1555572331	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555572401	TCTC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572406	CT>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572418	A>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, synonymous variant, coding sequence variant
rs1555572456	GGCCAG>CGCCA	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555572458	GGGGGACCA>-,GGGGGACCAGGGGGACCA	Uncertain-significance, likely-pathogenic	Intron variant, inframe insertion, inframe deletion, coding sequence variant
rs1555572537	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555572640	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555572656	->CATCACCAGGTTCGCCTTTAGCACCAG	Pathogenic	Inframe insertion, coding sequence variant
rs1555572756	C>A	Pathogenic	Coding sequence variant, missense variant
rs1555573004	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555573039	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555573040	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555573111	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1555573288	C>T	Pathogenic	Splice acceptor variant
rs1555573313	C>T	Pathogenic	Splice donor variant
rs1555573484	TC>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573621	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573629	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573684	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573696	G>-	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1555573699	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555573717	TGAAAGCCTGGGGCCTCACCTTGGCACCAGGC>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs1555573734	G>-	Likely-pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573789	AT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573897	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555573968	C>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1555573969	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574071	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574113	->A	Likely-pathogenic	Splice donor variant, intron variant
rs1555574123	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574143	C>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574144	C>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574151	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574154	GGGGACCTTCAGAGCCT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574158	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1555574177	C>T	Pathogenic	Intron variant, splice acceptor variant
rs1555574249	C>A	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574303	C>G	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, missense variant
rs1555574319	->G	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555574410	C>G	Pathogenic	Coding sequence variant, missense variant
rs1555574450	AACCCTAAAGCAGGAAAGAGGTAGAAGGTAAGAACCTGTGGA>-	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1555574493	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555574496	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555574497	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555574516	C>T	Pathogenic	Splice acceptor variant
rs1555574553	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1555574638	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555574641	C>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1555574802	AC>T	Pathogenic	Frameshift variant, coding sequence variant
rs1555574871	->CATAAGACAGCTGGGGAGC	Pathogenic	Frameshift variant, coding sequence variant
rs1555575085	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555575086	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555575370	C>A	Pathogenic	Stop gained, coding sequence variant
rs1555575425	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555575456	C>A	Pathogenic	Splice acceptor variant
rs1555575857	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1555575889	T>C	Pathogenic	Initiator codon variant, missense variant
rs1567751388	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567752926	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567752998	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567753046	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1567753329	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567753448	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1567753699	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567754277	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567754589	CACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567754639	GGG>A	Pathogenic	Frameshift variant, coding sequence variant
rs1567755602	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567756357	->CG	Pathogenic	Frameshift variant, coding sequence variant
rs1567756567	C>T	Pathogenic	Splice acceptor variant
rs1567757138	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567757713	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567759163	C>T	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1567759402	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs1567760123	T>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567760604	C>G	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs1567760736	GGCACCTT>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1567761649	TCACCAG>ACCTCTCA	Pathogenic	Frameshift variant, coding sequence variant
rs1567761800	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1567761828	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567761950	GCAGGACC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567762257	T>A	Pathogenic	Stop gained, coding sequence variant
rs1567762262	GTGT>-,GT	Pathogenic	Frameshift variant, coding sequence variant
rs1567763007	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1567763447	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567763451	C>T	Pathogenic	Coding sequence variant, missense variant
rs1567764387	T>C	Pathogenic	Intron variant
rs1567764772	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1567764832	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1567766329	C>T	Pathogenic	Initiator codon variant, missense variant
rs1567766338	A>G	Pathogenic	Initiator codon variant, missense variant
rs1598285120	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1598285125	CTCCT>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1598286050	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598286543	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288002	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288070	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1598288342	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598288593	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288634	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1598288648	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598288656	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1598288967	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289247	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289365	->C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598289920	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598290382	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598291438	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598292524	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1598293646	C>A	Pathogenic	Missense variant, coding sequence variant
rs1598293710	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598293885	AG>C	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598293920	C>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1598295066	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1598295482	A>T	Pathogenic	Intron variant, splice donor variant
rs1598295506	A>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598295794	C>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598296202	C>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1598296825	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1598297227	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598297666	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598297682	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1598298292	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1598298449	A>T	Pathogenic	Splice donor variant
rs1598298699	C>T	Pathogenic	Splice acceptor variant
rs1598299070	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598299275	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598299754	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1598300054	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1598300304	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1598301459	C>T	Pathogenic	Splice acceptor variant
rs1598301619	C>T	Pathogenic	Splice acceptor variant

Show/Hide all(108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000100	hsa-miR-29b-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	20657750
MIRT000100	hsa-miR-29b-3p	Microarray, qRT-PCR, Western blot	22297492
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay	23478036
MIRT000100	hsa-miR-29b-3p	Reporter assay	21769867
MIRT000100	hsa-miR-29b-3p	Luciferase reporter assay, qRT-PCR, Western blot	23221517
MIRT000100	hsa-miR-29b-3p	ELISA, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	27895107
MIRT000100	hsa-miR-29b-3p	qRT-PCR	25744716
MIRT000928	hsa-miR-29c-3p	Luciferase reporter assay, Reporter assay;Other	18390668
MIRT000928	hsa-miR-29c-3p	Immunohistochemistry, qRT-PCR	21125666
MIRT004242	hsa-miR-143-3p	Immunoblot, Luciferase reporter assay, qRT-PCR	19913496
MIRT004242	hsa-miR-143-3p	Microarray	22942087
MIRT021714	hsa-miR-133a-3p	Reporter assay	21769867
MIRT022587	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT440917	hsa-miR-412-3p	HITS-CLIP	24374217
MIRT659428	hsa-miR-4776-5p	HITS-CLIP	23824327
MIRT659429	hsa-miR-4800-5p	HITS-CLIP	23824327
MIRT659430	hsa-miR-3619-3p	HITS-CLIP	23824327
MIRT659431	hsa-miR-7162-5p	HITS-CLIP	23824327
MIRT659432	hsa-miR-516b-3p	HITS-CLIP	23824327
MIRT659433	hsa-miR-516a-3p	HITS-CLIP	23824327
MIRT734148	hsa-miR-29b-1-5p	Luciferase reporter assay, qRT-PCR	25827718
MIRT734240	hsa-miR-185-5p	Luciferase reporter assay	28259900
MIRT734240	hsa-miR-185-5p	PAR-CLIP	26701625
MIRT734322	hsa-miR-129-5p	Luciferase reporter assay, qRT-PCR, Western blot	28482162
MIRT734322	hsa-miR-129-5p	HITS-CLIP	27418678
MIRT735889	hsa-miR-1184	PAR-CLIP	26701625
MIRT736423	hsa-miR-1249-5p	PAR-CLIP	26701625
MIRT736537	hsa-miR-1253	PAR-CLIP	26701625
MIRT737249	hsa-miR-1301-3p	PAR-CLIP	26701625
MIRT737915	hsa-miR-1587	PAR-CLIP	26701625
MIRT738093	hsa-miR-1827	PAR-CLIP	26701625
MIRT739125	hsa-miR-2278	PAR-CLIP	26701625
MIRT739163	hsa-miR-2392	PAR-CLIP	26701625
MIRT739256	hsa-miR-2467-3p	PAR-CLIP	26701625
MIRT739979	hsa-miR-3122	PAR-CLIP	26701625
MIRT740301	hsa-miR-3150b-3p	PAR-CLIP	26701625
MIRT741508	hsa-miR-3605-5p	PAR-CLIP	26701625
MIRT741530	hsa-miR-3609	PAR-CLIP	26701625
MIRT741743	hsa-miR-3620-5p	PAR-CLIP	26701625
MIRT741824	hsa-miR-363-5p	PAR-CLIP	26701625
MIRT742042	hsa-miR-3665	PAR-CLIP	26701625
MIRT742844	hsa-miR-3911	PAR-CLIP	26701625
MIRT742861	hsa-miR-3913-5p	PAR-CLIP	26701625
MIRT743150	hsa-miR-3942-3p	PAR-CLIP	26701625
MIRT743224	hsa-miR-3978	PAR-CLIP	26701625
MIRT743314	hsa-miR-4251	PAR-CLIP	26701625
MIRT743392	hsa-miR-4257	PAR-CLIP	26701625
MIRT743892	hsa-miR-4306	PAR-CLIP	26701625
MIRT744066	hsa-miR-4324	PAR-CLIP	26701625
MIRT744374	hsa-miR-4433b-3p	PAR-CLIP	26701625
MIRT744722	hsa-miR-4455	PAR-CLIP	26701625
MIRT744915	hsa-miR-4468	PAR-CLIP	26701625
MIRT745278	hsa-miR-4492	PAR-CLIP	26701625
MIRT745359	hsa-miR-4498	PAR-CLIP	26701625
MIRT745567	hsa-miR-450a-1-3p	PAR-CLIP	26701625
MIRT745839	hsa-miR-4524a-3p	PAR-CLIP	26701625
MIRT746001	hsa-miR-4533	PAR-CLIP	26701625
MIRT746364	hsa-miR-4644	PAR-CLIP	26701625
MIRT746649	hsa-miR-4656	PAR-CLIP	26701625
MIRT746684	hsa-miR-4660	PAR-CLIP	26701625
MIRT746878	hsa-miR-4675	PAR-CLIP	26701625
MIRT747993	hsa-miR-4736	PAR-CLIP	26701625
MIRT748115	hsa-miR-4741	PAR-CLIP	26701625
MIRT748229	hsa-miR-4747-5p	PAR-CLIP	26701625
MIRT748729	hsa-miR-4779	PAR-CLIP	26701625
MIRT748818	hsa-miR-4784	PAR-CLIP	26701625
MIRT748862	hsa-miR-4786-3p	PAR-CLIP	26701625
MIRT749352	hsa-miR-5001-5p	PAR-CLIP	26701625
MIRT749441	hsa-miR-5008-5p	PAR-CLIP	26701625
MIRT749539	hsa-miR-503-5p	PAR-CLIP	26701625
MIRT749565	hsa-miR-5047	PAR-CLIP	26701625
MIRT749659	hsa-miR-5091	PAR-CLIP	26701625
MIRT749938	hsa-miR-5192	PAR-CLIP	26701625
MIRT750013	hsa-miR-5196-5p	PAR-CLIP	26701625
MIRT750515	hsa-miR-548ah-5p	PAR-CLIP	26701625
MIRT751325	hsa-miR-5699-5p	PAR-CLIP	26701625
MIRT751410	hsa-miR-5739	PAR-CLIP	26701625
MIRT753248	hsa-miR-6513-5p	PAR-CLIP	26701625
MIRT753282	hsa-miR-6515-5p	PAR-CLIP	26701625
MIRT754452	hsa-miR-6745	PAR-CLIP	26701625
MIRT754515	hsa-miR-6747-5p	PAR-CLIP	26701625
MIRT754623	hsa-miR-6752-5p	PAR-CLIP	26701625
MIRT754868	hsa-miR-6758-5p	PAR-CLIP	26701625
MIRT755274	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT756183	hsa-miR-6797-5p	PAR-CLIP	26701625
MIRT756422	hsa-miR-6804-5p	PAR-CLIP	26701625
MIRT756558	hsa-miR-6808-5p	PAR-CLIP	26701625
MIRT756755	hsa-miR-6814-5p	PAR-CLIP	26701625
MIRT756967	hsa-miR-6825-5p	PAR-CLIP	26701625
MIRT757099	hsa-miR-6829-5p	PAR-CLIP	26701625
MIRT757357	hsa-miR-6842-5p	PAR-CLIP	26701625
MIRT757461	hsa-miR-6847-5p	PAR-CLIP	26701625
MIRT757714	hsa-miR-6856-5p	PAR-CLIP	26701625
MIRT758299	hsa-miR-6880-5p	PAR-CLIP	26701625
MIRT758702	hsa-miR-6893-5p	PAR-CLIP	26701625
MIRT758767	hsa-miR-6894-5p	PAR-CLIP	26701625
MIRT758843	hsa-miR-7106-5p	PAR-CLIP	26701625
MIRT758983	hsa-miR-7110-5p	PAR-CLIP	26701625
MIRT759137	hsa-miR-7114-5p	PAR-CLIP	26701625
MIRT759215	hsa-miR-7154-3p	PAR-CLIP	26701625
MIRT759494	hsa-miR-762	PAR-CLIP	26701625
MIRT759549	hsa-miR-765	PAR-CLIP	26701625
MIRT759634	hsa-miR-766-5p	PAR-CLIP	26701625
MIRT759833	hsa-miR-7847-3p	PAR-CLIP	26701625
MIRT760335	hsa-miR-874-5p	PAR-CLIP	26701625
MIRT760404	hsa-miR-887-5p	PAR-CLIP	26701625
MIRT760799	hsa-miR-940	PAR-CLIP	26701625

Transcription factors

Show/Hide all(12)

Transcription factor	Regulation	Reference
CIITA	Repression	16439692
ETS1	Unknown	16564026
MKL1	Activation	22049076
MYB	Activation	9989795
MYBL2	Unknown	14613485
NFIC	Unknown	10082137;7504695
NFKB1	Unknown	11277268
RELA	Unknown	11277268
SP1	Unknown	10082137;10091149;10775443;12138160;16564026;7504695;7590335
SP3	Unknown	10082137
STAT6	Activation	14603527
TFAP2A	Unknown	10775443

Show/Hide all(76)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	IBA	21873635
GO:0001501	Process	Skeletal system development	IMP	1874719, 8097422, 14976317
GO:0001503	Process	Ossification	IBA	21873635
GO:0001568	Process	Blood vessel development	IBA	21873635
GO:0001568	Process	Blood vessel development	IMP	17211858
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001957	Process	Intramembranous ossification	IEA
GO:0001958	Process	Endochondral ossification	IEA
GO:0002020	Function	Protease binding	IPI	19932771
GO:0005201	Function	Extracellular matrix structural constituent	IBA	21873635
GO:0005515	Function	Protein binding	IPI	14749390, 18375391, 20015075, 20541508, 25290767, 26848503, 32296183
GO:0005576	Component	Extracellular region	HDA	27068509
GO:0005576	Component	Extracellular region	TAS
GO:0005584	Component	Collagen type I trimer	IBA	21873635
GO:0005584	Component	Collagen type I trimer	IDA	19932771
GO:0005584	Component	Collagen type I trimer	IMP	14976317, 17576241
GO:0005615	Component	Extracellular space	HDA	20551380
GO:0005615	Component	Extracellular space	IBA	21873635
GO:0005615	Component	Extracellular space	IMP	20603131
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0007596	Process	Blood coagulation	TAS
GO:0007601	Process	Visual perception	IMP	17557158
GO:0007605	Process	Sensory perception of sound	IMP	17489845
GO:0009612	Process	Response to mechanical stimulus	IBA	21873635
GO:0010718	Process	Positive regulation of epithelial to mesenchymal transition	IDA	20018240
GO:0010812	Process	Negative regulation of cell-substrate adhesion	IEA
GO:0015031	Process	Protein transport	IEA
GO:0030020	Function	Extracellular matrix structural constituent conferring tensile strength	HDA	28344315
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:0030141	Component	Secretory granule	IEA
GO:0030168	Process	Platelet activation	TAS
GO:0030198	Process	Extracellular matrix organization	IBA	21873635
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030199	Process	Collagen fibril organization	IMP	14976317, 15095409, 17211858, 18375391
GO:0030335	Process	Positive regulation of cell migration	IDA	20018240
GO:0031012	Component	Extracellular matrix	IBA	21873635
GO:0031960	Process	Response to corticosteroid	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032964	Process	Collagen biosynthetic process	IMP	15095409
GO:0034504	Process	Protein localization to nucleus	IDA	20018240
GO:0034505	Process	Tooth mineralization	IMP	17118335
GO:0038063	Process	Collagen-activated tyrosine kinase receptor signaling pathway	IBA	21873635
GO:0042493	Process	Response to drug	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IDA	17211858
GO:0043434	Process	Response to peptide hormone	IEA
GO:0043588	Process	Skin development	IBA	21873635
GO:0043589	Process	Skin morphogenesis	IMP	17211858
GO:0044344	Process	Cellular response to fibroblast growth factor stimulus	IEA
GO:0044691	Process	Tooth eruption	IEA
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	20018240
GO:0046872	Function	Metal ion binding	IEA
GO:0048407	Function	Platelet-derived growth factor binding	IDA	8900172
GO:0048706	Process	Embryonic skeletal system development	IMP	18553566
GO:0050776	Process	Regulation of immune response	TAS
GO:0050900	Process	Leukocyte migration	TAS
GO:0051591	Process	Response to cAMP	IEA
GO:0055093	Process	Response to hyperoxia	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	23658023, 25037231, 27559042, 28327460, 28344315, 28675934
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	20551380
GO:0062023	Component	Collagen-containing extracellular matrix	ISS	22261194
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071260	Process	Cellular response to mechanical stimulus	IEA
GO:0071300	Process	Cellular response to retinoic acid	IEA
GO:0071306	Process	Cellular response to vitamin E	IEA
GO:0071356	Process	Cellular response to tumor necrosis factor	IEA
GO:0071364	Process	Cellular response to epidermal growth factor stimulus	IEA
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEA
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IDA	20018240
GO:1902618	Process	Cellular response to fluoride	IEA

MIM	HGNC	e!Ensembl
120150	2197	ENSG00000108821

Protein

UniProt ID

P02452

Protein name

Collagen alpha-1(I) chain (Alpha-1 type I collagen)

Protein function

Type I collagen is a member of group I collagen (fibrillar forming collagen).

PDB

1Q7D , 2LLP , 3EJH , 3GXE , 5CTD , 5CTI , 5CVA , 5CVB , 5K31 , 5OU8 , 5OU9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00093	VWC	40 → 95	von Willebrand factor type C domain	Family
PF01391	Collagen	107 → 163	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	177 → 238	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	236 → 295	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	296 → 355	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	356 → 415	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	407 → 476	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	779 → 838	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	835 → 898	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1013 → 1080	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1076 → 1138	Collagen triple helix repeat (20 copies)	Repeat
PF01391	Collagen	1133 → 1195	Collagen triple helix repeat (20 copies)	Repeat
PF01410	COLFI	1227 → 1463	Fibrillar collagen C-terminal domain	Family

Sequence

MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRI
CVCDNGKVLCDDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPR
GPRGPAGPPGRDGIPGQPGLPGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGP
MGPSGPRGLPGPPGAPGPQGFQGPPGEPGEPGASGPMGPRGPPGPPGKNGDDGEAGKPGR
PGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDAGPAGPKGEPGSPGENGAPGQ
MGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVGAKGEAGPQGP
RGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGL
PGPPGERGGPGSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGL
TGSPGSPGPDGKTGPPGPAGQDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGV
PGPPGAVGPAGKDGEAGAQGPPGPAGPAGERGEQGPAGSPGFQGLPGPAGPPGEAGKPGE
QGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGANGAPGNDGAKGDAGAPGAPGS
QGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIGPPGPAGAPGD
KGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGP
AGKEGGKGPRGETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGV
VGLPGQRGERGFPGLPGPSGEPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGA
EGSPGRDGSPGAKGDRGETGPAGPPGAPGAPGAPGPVGPAGKSGDRGETGPAGPTGPVGP
VGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPPGPPGSPGEQGPSGASGPAGP
RGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPGPPSAGFDFSF
LPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKD
KRHVWFGESMTDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQ
TGNLKKALLLQGSNEIEIRAEGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPII
DVAPLDVGAPDQEFGFDVGPVCFL

Sequence length

1464

Interactions

View interactions

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412