SMCHD1 (structural maintenance of chromosomes flexible hinge domain containing 1)

Gene

• Entrez ID: 23347
• Gene name: Structural maintenance of chromosomes flexible hinge domain containing 1
• Gene symbol: SMCHD1
• Synonyms (NCBI Gene): BAMS, FSHD2
• Disease Acronyms (UniProt): BAMS, FSHD2
• Chromosome: 18
• Chromosome location: 18p11.32
• Summary: This gene encodes a protein which contains a hinge region domain found in members of the SMC (structural maintenance of chromosomes) protein family. [provided by RefSeq, Dec 2011]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs58683258	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs72862973	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs76290319	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs112500113	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs144115061	T>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs145233420	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201069969	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs201466122	T>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs201631086	C>G,T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, not-provided	Intron variant
rs369550628	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, 5 prime UTR variant, non coding transcript variant
rs371834462	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs372945746	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs374154803	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs374899324	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs375251871	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs376328601	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs377471712	C>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs387907319	TGATA>-	Pathogenic	Inframe indel, coding sequence variant, stop gained, non coding transcript variant
rs397514623	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397518422	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs535674229	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, non coding transcript variant
rs542259388	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs553970445	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs755868793	T>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs778279069	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs778892054	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs867104086	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, stop gained, coding sequence variant
rs867598503	TT>-,TTT	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs886041918	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886041921	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs886042392	G>A	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs886042417	G>A	Pathogenic	Splice donor variant
rs886043146	G>A	Pathogenic	Splice acceptor variant
rs886043182	GA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886043464	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, intron variant, coding sequence variant, genic downstream transcript variant
rs886044129	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044257	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs886044369	G>A,T	Likely-pathogenic, uncertain-significance	Splice donor variant
rs886044408	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant, genic downstream transcript variant
rs886044419	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs886044914	ATC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs1057519614	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1057519639	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519640	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519641	G>A,C,T	Pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs1057519642	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1057519643	A>C,G	Likely-benign, pathogenic	5 prime UTR variant, synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs1057519644	G>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1057519645	A>T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1057519646	G>A,T	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402737	T>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402738	T>A	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402739	A>C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402740	T>G	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs1135402741	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402742	A>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402743	G>C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402744	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1135402745	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1204021010	G>A,C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1245372794	G>A	Pathogenic	Splice donor variant
rs1329504858	C>A,T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs1555625396	G>A	Pathogenic	Splice donor variant
rs1555635144	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555642277	AGTAA>-	Pathogenic	Non coding transcript variant, intron variant, splice donor variant, coding sequence variant
rs1555644339	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1555647265	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555651730	->CAGA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1555654127	G>C	Pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1555658855	->A	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic downstream transcript variant, coding sequence variant
rs1568183325	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568188407	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568261067	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568280995	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1568350731	->T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1568383892	T>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs1598416221	G>A	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant
rs1598426626	G>A	Likely-pathogenic	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT003173	hsa-miR-210-3p	immunoprecipitaion, Microarray, qRT-PCR	19826008
MIRT021727	hsa-miR-132-3p	Microarray	17612493
MIRT021952	hsa-miR-128-3p	Microarray	17612493
MIRT025085	hsa-miR-181a-5p	Microarray	17612493
MIRT050718	hsa-miR-18a-5p	CLASH	23622248
MIRT049938	hsa-miR-30a-5p	CLASH	23622248
MIRT048562	hsa-miR-100-5p	CLASH	23622248
MIRT047549	hsa-miR-10a-5p	CLASH	23622248
MIRT047425	hsa-miR-10b-5p	CLASH	23622248
MIRT046851	hsa-miR-221-3p	CLASH	23622248
MIRT045406	hsa-miR-149-5p	CLASH	23622248
MIRT039446	hsa-miR-421	CLASH	23622248
MIRT037356	hsa-miR-877-5p	CLASH	23622248
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT653359	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT653358	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT439583	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT439583	ebv-miR-BART10-3p	HITS-CLIP	22473208
MIRT615840	hsa-miR-1264	HITS-CLIP	27418678
MIRT615840	hsa-miR-1264	HITS-CLIP	27418678
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	27418678
MIRT615838	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT615838	hsa-miR-329-3p	HITS-CLIP	27418678
MIRT615837	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT615837	hsa-miR-362-3p	HITS-CLIP	27418678
MIRT615834	hsa-miR-3941	HITS-CLIP	27418678
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	27418678
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	27418678
MIRT615836	hsa-miR-603	HITS-CLIP	27418678
MIRT615836	hsa-miR-603	HITS-CLIP	27418678
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	27418678
MIRT615839	hsa-miR-8485	HITS-CLIP	27418678
MIRT615839	hsa-miR-8485	HITS-CLIP	27418678
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT653359	hsa-miR-203a-3p	HITS-CLIP	23824327
MIRT653358	hsa-miR-510-3p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT615841	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT615840	hsa-miR-1264	HITS-CLIP	23824327
MIRT615839	hsa-miR-8485	HITS-CLIP	23824327
MIRT615838	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT615837	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT615836	hsa-miR-603	HITS-CLIP	23824327
MIRT148257	hsa-miR-6768-5p	HITS-CLIP	23824327
MIRT615835	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT615834	hsa-miR-3941	HITS-CLIP	23824327
MIRT615833	hsa-miR-4789-5p	HITS-CLIP	23824327
MIRT615832	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372546	hsa-miR-1285	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT1372549	hsa-miR-203	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT1372552	hsa-miR-3145-5p	CLIP-seq
MIRT1372553	hsa-miR-3187-5p	CLIP-seq
MIRT1372554	hsa-miR-4266	CLIP-seq
MIRT1372555	hsa-miR-4293	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT1372557	hsa-miR-4433	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT1372559	hsa-miR-4521	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372563	hsa-miR-4695-5p	CLIP-seq
MIRT1372564	hsa-miR-4779	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT1372567	hsa-miR-548c-3p	CLIP-seq
MIRT1372568	hsa-miR-596	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT1372570	hsa-miR-612	CLIP-seq
MIRT1372571	hsa-miR-661	CLIP-seq
MIRT1372572	hsa-miR-665	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2110665	hsa-miR-127-5p	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT2110666	hsa-miR-145	CLIP-seq
MIRT2110667	hsa-miR-2355-5p	CLIP-seq
MIRT2110668	hsa-miR-297	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT2110669	hsa-miR-3143	CLIP-seq
MIRT2110670	hsa-miR-3163	CLIP-seq
MIRT2110671	hsa-miR-3682-5p	CLIP-seq
MIRT2110672	hsa-miR-3925-3p	CLIP-seq
MIRT2110673	hsa-miR-4264	CLIP-seq
MIRT2110674	hsa-miR-4273	CLIP-seq
MIRT2110675	hsa-miR-4282	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT2110676	hsa-miR-4427	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2110678	hsa-miR-4677-5p	CLIP-seq
MIRT2110679	hsa-miR-4680-3p	CLIP-seq
MIRT2110680	hsa-miR-4698	CLIP-seq
MIRT2110681	hsa-miR-4704-3p	CLIP-seq
MIRT2110682	hsa-miR-4731-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110683	hsa-miR-4801	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT2110685	hsa-miR-510	CLIP-seq
MIRT2110686	hsa-miR-512-5p	CLIP-seq
MIRT2110687	hsa-miR-515-5p	CLIP-seq
MIRT2110688	hsa-miR-543	CLIP-seq
MIRT2110689	hsa-miR-567	CLIP-seq
MIRT2110690	hsa-miR-576-5p	CLIP-seq
MIRT2110691	hsa-miR-582-5p	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2110692	hsa-miR-622	CLIP-seq
MIRT2110693	hsa-miR-766	CLIP-seq
MIRT2110694	hsa-miR-935	CLIP-seq
MIRT2334085	hsa-miR-105	CLIP-seq
MIRT2334086	hsa-miR-1200	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2334087	hsa-miR-1270	CLIP-seq
MIRT2334088	hsa-miR-185	CLIP-seq
MIRT2334089	hsa-miR-194	CLIP-seq
MIRT2334090	hsa-miR-196a	CLIP-seq
MIRT2334091	hsa-miR-196b	CLIP-seq
MIRT2334092	hsa-miR-219-5p	CLIP-seq
MIRT2334093	hsa-miR-224	CLIP-seq
MIRT2110667	hsa-miR-2355-5p	CLIP-seq
MIRT2334094	hsa-miR-298	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2334095	hsa-miR-3121-5p	CLIP-seq
MIRT2110669	hsa-miR-3143	CLIP-seq
MIRT1372552	hsa-miR-3145-5p	CLIP-seq
MIRT2334096	hsa-miR-3185	CLIP-seq
MIRT2334097	hsa-miR-3620	CLIP-seq
MIRT2334098	hsa-miR-3671	CLIP-seq
MIRT2334099	hsa-miR-3945	CLIP-seq
MIRT2334100	hsa-miR-409-3p	CLIP-seq
MIRT2110673	hsa-miR-4264	CLIP-seq
MIRT2110674	hsa-miR-4273	CLIP-seq
MIRT2334101	hsa-miR-4289	CLIP-seq
MIRT2334102	hsa-miR-4306	CLIP-seq
MIRT2334103	hsa-miR-4314	CLIP-seq
MIRT2334104	hsa-miR-432	CLIP-seq
MIRT2334105	hsa-miR-4445	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT2334106	hsa-miR-4477a	CLIP-seq
MIRT2334107	hsa-miR-448	CLIP-seq
MIRT2334108	hsa-miR-4490	CLIP-seq
MIRT2334109	hsa-miR-4504	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372559	hsa-miR-4521	CLIP-seq
MIRT2334110	hsa-miR-4531	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT2334111	hsa-miR-4644	CLIP-seq
MIRT2334112	hsa-miR-4646-3p	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2110678	hsa-miR-4677-5p	CLIP-seq
MIRT2334113	hsa-miR-4708-3p	CLIP-seq
MIRT2334114	hsa-miR-4708-5p	CLIP-seq
MIRT2334115	hsa-miR-4756-3p	CLIP-seq
MIRT2334116	hsa-miR-4761-3p	CLIP-seq
MIRT2334117	hsa-miR-4774-5p	CLIP-seq
MIRT2334118	hsa-miR-4782-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT2334119	hsa-miR-508-3p	CLIP-seq
MIRT2110685	hsa-miR-510	CLIP-seq
MIRT2110686	hsa-miR-512-5p	CLIP-seq
MIRT2334120	hsa-miR-513a-3p	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT2334121	hsa-miR-542-3p	CLIP-seq
MIRT2110688	hsa-miR-543	CLIP-seq
MIRT2334122	hsa-miR-548ae	CLIP-seq
MIRT2334123	hsa-miR-548aj	CLIP-seq
MIRT2334124	hsa-miR-548am	CLIP-seq
MIRT2334125	hsa-miR-548x	CLIP-seq
MIRT2334126	hsa-miR-549	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2334127	hsa-miR-607	CLIP-seq
MIRT2334128	hsa-miR-620	CLIP-seq
MIRT2110692	hsa-miR-622	CLIP-seq
MIRT2334129	hsa-miR-654-3p	CLIP-seq
MIRT2334130	hsa-miR-7	CLIP-seq
MIRT2334131	hsa-miR-758	CLIP-seq
MIRT1372547	hsa-miR-1302	CLIP-seq
MIRT1372548	hsa-miR-1343	CLIP-seq
MIRT1372551	hsa-miR-3074-5p	CLIP-seq
MIRT1372556	hsa-miR-4298	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2394861	hsa-miR-548ac	CLIP-seq
MIRT2334122	hsa-miR-548ae	CLIP-seq
MIRT2334123	hsa-miR-548aj	CLIP-seq
MIRT2334124	hsa-miR-548am	CLIP-seq
MIRT2394862	hsa-miR-548d-3p	CLIP-seq
MIRT2334125	hsa-miR-548x	CLIP-seq
MIRT2394863	hsa-miR-548z	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT2334090	hsa-miR-196a	CLIP-seq
MIRT2334091	hsa-miR-196b	CLIP-seq
MIRT2334094	hsa-miR-298	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2440572	hsa-miR-323-3p	CLIP-seq
MIRT2440573	hsa-miR-3617	CLIP-seq
MIRT2334100	hsa-miR-409-3p	CLIP-seq
MIRT2440574	hsa-miR-425	CLIP-seq
MIRT1372558	hsa-miR-4457	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT2334113	hsa-miR-4708-3p	CLIP-seq
MIRT2334114	hsa-miR-4708-5p	CLIP-seq
MIRT2110682	hsa-miR-4731-3p	CLIP-seq
MIRT2334115	hsa-miR-4756-3p	CLIP-seq
MIRT2334116	hsa-miR-4761-3p	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT2110683	hsa-miR-4801	CLIP-seq
MIRT2110684	hsa-miR-494	CLIP-seq
MIRT1372566	hsa-miR-513b	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq
MIRT2440575	hsa-miR-641	CLIP-seq
MIRT1372545	hsa-miR-1238	CLIP-seq
MIRT1372550	hsa-miR-3064-3p	CLIP-seq
MIRT2110677	hsa-miR-450b-5p	CLIP-seq
MIRT1372560	hsa-miR-4643	CLIP-seq
MIRT1372561	hsa-miR-466	CLIP-seq
MIRT1372562	hsa-miR-4672	CLIP-seq
MIRT1372565	hsa-miR-4789-3p	CLIP-seq
MIRT1372569	hsa-miR-600	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	IDA	24270157
GO:0001740	Component	Barr body	IDA	23542155
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	23542155
GO:0005524	Function	ATP binding	IEA
GO:0006302	Process	Double-strand break repair	IEA
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IDA	23542155
GO:0016887	Function	ATPase activity	ISS
GO:0035861	Component	Site of double-strand break	IDA	24790221, 25294876
GO:0042803	Function	Protein homodimerization activity	ISS
GO:0043584	Process	Nose development	IMP	28067909, 28067911
GO:0045739	Process	Positive regulation of DNA repair	IMP	24790221
GO:0060820	Process	Inactivation of X chromosome by heterochromatin assembly	ISS
GO:0060821	Process	Inactivation of X chromosome by DNA methylation	IEA
GO:0070868	Process	Heterochromatin organization involved in chromatin silencing	ISS
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IMP	25294876
GO:2001034	Process	Positive regulation of double-strand break repair via nonhomologous end joining	IMP	25294876

Other IDs

• MIM: 614982
• HGNC: 29090
• e!Ensembl: ENSG00000101596

Protein

• UniProt ID: A6NHR9
• Protein name: Structural maintenance of chromosomes flexible hinge domain-containing protein 1 (SMC hinge domain-containing protein 1) (EC 3.6.1.-)
• Protein function: Non-canonical member of the structural maintenance of chromosomes (SMC) protein family that plays a key role in epigenetic silencing by regulating chromatin architecture (By similarity). Promotes heterochromatin formation in both autosomes and c
• PDB: 6MW7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13589	HATPase_c_3	139 → 295		Domain
  PF06470	SMC_hinge	1719 → 1847	SMC proteins Flexible Hinge Domain	Domain

• Sequence:

  MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACV
  CQTLGISPEEKFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPH
  YDTLVKSGMYEYYASEGQNPLPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAV
  AVIDNGRGMTSKQLNNWAVYRLSKFTRQGDFESDHSGYVRPVPVPRSLNSDISYFGVGGK
  QAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKEAIYSGYIRNRKPSDSVHITN
  DDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIYHYYIHGPKGN
  EIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD
  GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRL
  IPYTSVEDFDWCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNT
  LFTRILNGQEQRMKIDREFALWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYA
  AIEWDGKIYKAGQLVKTIKTLPLFYGSIVRFFLYGDHDGEVYATGGEVQIAMEPQALYDE
  VRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEGDELLPNEVRPAGTPIGALRI
  EILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGGKWPYWFKKME
  NIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP
  FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGK
  NYNLKVTLPGLKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNI
  TAQPKLIVHCKFSGAPNLPVYVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKD
  VAPVEKTIKLLPSSHVARLQIFSVEGQKAIQIKHQDEVNWIAGDIMHNLIFQMYDEGERE
  INITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKDMRYCQVSFQDDHVSLESAFT
  VRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSSLSSLSIAGVG
  LDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI
  DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTD
  EKGRANLGVFSVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDAS
  FLAGGLFTDFMISVISEDDSIIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDND
  KEDGCFYFRDKVIPNKVGTYCIQFGFMMDKTNILNSEQVIVEVLPNQPVKLVPKIKPPTP
  AVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIATIKGSNEEDTDTPLFIGKVRT
  LEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILPFMFYNDVKKQ
  QQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP
  TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMV
  ISWHLASDMDCVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLY
  FKPIGDPVFARDLLTFPDNVEHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLL
  TRDGDRIRSNGKFGGLQNKAPPMDKLRGMVFGAPVPKQCLILGEQIDLLQQYRSAVCKLD
  SVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLGMTPIRKCNDSLRHSPKVETT
  DCPVPPKRMRREATRQNRIITKTDV

• Sequence length: 2005

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Arrhinia with choanal atresia and microphthalmia syndrome	Arhinia, choanal atresia, and microphthalmia	rs1057519640, rs1057519641, rs1057519642, rs1057519644, rs1057519645, rs1057519646, rs1135402737, rs1135402738, rs1135402739, rs1135402741, rs1135402742, rs1135402743, rs1135402744, rs1135402745	28067909, 29748383, 28067911
Congenital ocular coloboma	Congenital ocular coloboma (disorder)	rs587778875, rs587777249, rs767611891, rs2091986259, rs2091987023, rs2091988799
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886	28067909
Facioscapulohumeral muscular dystrophy	Muscular Dystrophy, Facioscapulohumeral, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	rs387907319, rs397514623, rs1057519614, rs1598416221, rs886041918, rs886042417, rs1057519644, rs1245372794, rs1555642277, rs1555644339, rs1555647265, rs886044369, rs1568350731, rs377471712, rs2075161300, rs2075566961, rs2075161499	23143600, 24128691, 24075187, 29748383, 28067909, 28067911, 25370034, 25256356, 27059856
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Microphthalmos	Microphthalmos	rs794726862, rs1329285216
Muscular dystrophy	Muscular Dystrophy, Scapulohumeral	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
Syndromic microphthalmia	Anophthalmos	rs786205873, rs104894464, rs786205874, rs104894465, rs387906701, rs1566623121, rs786205879, rs1566624472, rs397514463, rs1566623392, rs387907252, rs397518481, rs397518482, rs397518483, rs587776457, rs786205884, rs786205224, rs869025222, rs869025221, rs886037853, rs755000701, rs1243762658, rs1555350223, rs1555350156, rs1553637470, rs1566622571, rs1603289774, rs1603289772, rs1579099615, rs1594952111, rs1575553528, rs1575553547, rs1594952007, rs1701696937

Unknown
Disease term	Disease name	Evidence	References	Source
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome			GenCC
Crohn Disease	Crohn Disease			GWAS
Diabetes	Diabetes			GWAS
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Atrial Fibrillation	Atrial Fibrillation			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Arhinia choanal atresia and microphthalmia	Associate	28067909, 29980640, 30698748, 31243061, 31312724, 31941450, 32620854, 34109974, 35121673, 36800423, 36944600, 37334829
Arrhinia	Associate	36944600
Bone Diseases Developmental	Associate	31941450
Bundle Branch Block	Associate	33567613
Cardiomyopathy Right Ventricular Dilated	Associate	33567613
Chromosome 18p deletion syndrome	Associate	25820463
Combined Pituitary Hormone Deficiency	Associate	32620854
Craniofacial Abnormalities	Associate	28067909
Developmental Disabilities	Associate	30698748
Facioscapulohumeral muscular dystrophy 1a	Associate	24075187, 24755953, 25370034, 29980640, 30071896, 31243061, 37334829
Facioscapulohumeral Muscular Dystrophy 1B	Associate	23143600, 24075187, 24128691, 25370034, 25820463, 28067909, 29563141, 29980640, 31243061, 31312724, 31676591, 34880314, 35121673, 36800423, 37334829
Genetic Diseases Inborn	Associate	30122583, 37334829
Hemochromatosis	Associate	32620854
Herpesviridae Infections	Associate	36800423
Hypogonadism	Associate	32620854
Inflammation	Associate	24128691
Kallmann Syndrome	Associate	36944600
Microphthalmos	Associate	32620854, 37334829
Muscular Diseases	Associate	24755953
Muscular Dystrophies	Associate	24755953, 28067909, 31312724, 31941450, 36800423
Muscular Dystrophy Facioscapulohumeral	Associate	23143600, 24128691, 25370034, 25782668, 25820463, 26446085, 27634379, 28587678, 28744936, 29563141, 29741619, 30698748, 30979860, 31316120, 31600781, 31676591, 32080884, 33443126, 34109974, 37334829, 37380887, 38136988
Neoplasms	Inhibit	35605119
Neuroblastoma	Associate	31941450
Neuromuscular Diseases	Associate	33567613
Neurosyphilis	Associate	29167762
Nose Diseases	Associate	36800423
Porokeratosis	Associate	23593459
Reproductive Tract Infections	Associate	28067909
Septo Optic Dysplasia	Associate	32620854
Turner Syndrome	Associate	30122583
Urinary Bladder Neoplasms	Associate	33150179