Property Summary

NCBI Gene PubMed Count 24
PubMed Score 28.76
PubTator Score 32.23

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (24)

Disease log2 FC p
Rheumatoid Arthritis 1.200 2.7e-02
gastric cancer -1.700 2.3e-03
pancreatic cancer -1.600 8.4e-03
malignant mesothelioma 1.100 4.4e-04
astrocytic glioma 1.100 7.7e-03
ependymoma 1.400 2.5e-03
cutaneous lupus erythematosus 1.400 2.0e-03
psoriasis 1.100 1.1e-03
osteosarcoma -1.756 1.6e-04
medulloblastoma 1.500 5.6e-08
atypical teratoid / rhabdoid tumor 1.800 8.8e-04
glioblastoma 1.600 2.2e-03
medulloblastoma, large-cell 1.700 2.7e-04
primitive neuroectodermal tumor 1.500 3.0e-03
intraductal papillary-mucinous neoplasm ... 1.100 1.3e-02
Multiple Sclerosis 1.100 4.0e-04
pediatric high grade glioma 1.100 7.2e-03
primary Sjogren syndrome 1.400 3.7e-04
pancreatic carcinoma -1.600 8.4e-03
invasive ductal carcinoma 1.075 2.7e-02
Pick disease -1.200 3.4e-04
progressive supranuclear palsy -1.500 5.6e-03
ovarian cancer 1.300 6.0e-04
pituitary cancer 1.100 7.2e-04

Gene RIF (15)

PMID Text
26485182 This study demonstrated that the the linkage peak revealed a variant (rs574972) within an intron of the gene SMCHD1 is linkaged to major depression in Mexican Americans.
26446085 This approach was successfully employed in the context of the in silico prediction of potential remotely acting regulatory elements for the SMCHD1 gene. Subsequent sequencing of these predicted regions identified three sequence variants in FSHD patients
26391951 An indirect interaction mediated by the LRIF1 and HP1 proteins loads SMCHD1 onto chromatin marked by trimethylation of histone H3 lysine 9 (H3K9me3).
26356006 In the case of FSHD1, a contraction of the D4Z4 repeat array is disease causing whereas FSHD2 is most often caused by mutations in the structural maintenance of chromosomes hinge domain 1 (SMCHD1) gene.
25820463 Two facioscapulohumeral muscular dystrophy type 2 families with a 1.2-Mb deletion encompassing the SMCHD1 gene are described; they have only one copy of SMCHD1.
25782668 The synergistic effect has been demonstrated of two SMCHD1 variants on D4Z4 hypomethylation site and disease penetrance in facioscapulohumeral muscular dystrophy-2 patients.
25370034 findings confirm the role of SMCHD1 mutations in FSHD2 and as a modifier of disease severity.
25294876 SMCHD1 recruitment to DNA damage foci is regulated by 53BP1.
24818964 SmcHD1 is an important regulator of imprinted and clustered genes
24128691 study reports a novel mutation p.Lys275del in SMCHD1 in a family with facioscapulohumeral muscular dystrophy 2; conclude that the SMCHD1 mutation is the likely cause of the disease in this family
24075187 Each of these individuals also carries a mutation in the SMCHD1 gene.
23542155 Thus, the molecular network involving HBiX1 (previously termed C1orf103) and SMCHD1 links the H3K9me3 and XIST-H3K27me3 domains to organize the compact inactive X chromosome structure.
23269277 our observations collectively highlight a hitherto uncharacterized role for SMCHD1 as a candidate tumor suppressor gene in hematopoietic cancers.
23143600 The study identified SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of facioscapulohumeral muscular dystrophy type 2 and possibly other human diseases subject to epigenetic regulation.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MAAADGGGPGGASVGTEEDGGGVGHRTVYLFDRREKESELGDRPLQVGERSDYAGFRACVCQTLGISPEE      1 - 70
KFVITTTSRKEITCDNFDETVKDGVTLYLLQSVNQLLLTATKERIDFLPHYDTLVKSGMYEYYASEGQNP     71 - 140
LPFALAELIDNSLSATSRNIGVRRIQIKLLFDETQGKPAVAVIDNGRGMTSKQLNNWAVYRLSKFTRQGD    141 - 210
FESDHSGYVRPVPVPRSLNSDISYFGVGGKQAVFFVGQSARMISKPADSQDVHELVLSKEDFEKKEKNKE    211 - 280
AIYSGYIRNRKPSDSVHITNDDERFLHHLIIEEKEKDSFTAVVITGVQPEHIQYLKNYFHLWTRQLAHIY    281 - 350
HYYIHGPKGNEIRTSKEVEPFNNIDIEISMFEKGKVPKIVNLREIQDDMQTLYVNTAADSFEFKAHVEGD    351 - 420
GVVEGIIRYHPFLYDRETYPDDPCFPSKLKDEDDEDDCFILEKAARGKRPIFECFWNGRLIPYTSVEDFD    421 - 490
WCTPPKKRGLAPIECYNRISGALFTNDKFQVSTNKLTFMDLELKLKDKNTLFTRILNGQEQRMKIDREFA    491 - 560
LWLKDCHEKYDKQIKFTLFKGVITRPDLPSKKQGPWATYAAIEWDGKIYKAGQLVKTIKTLPLFYGSIVR    561 - 630
FFLYGDHDGEVYATGGEVQIAMEPQALYDEVRTVPIAKLDRTVAEKAVKKYVEDEMARLPDRLSVTWPEG    631 - 700
DELLPNEVRPAGTPIGALRIEILNKKGEAMQKLPGTSHGGSKKLLVELKVILHSSSGNKEIISHISQHGG    701 - 770
KWPYWFKKMENIQKLGNYTLKLQVVLNESNADTYAGRPLPSKAIKFSVKEGKPEKFSFGLLDLPFRVGVP    771 - 840
FNIPLEFQDEFGHTSQLVTDIQPVLEASGLSLHYEEITKGPNCVIRGVTAKGPVNSCQGKNYNLKVTLPG    841 - 910
LKEDSQILKIRLLPGHPRRLKVKPDSEILVIENGTAFPFQVEVLDESDNITAQPKLIVHCKFSGAPNLPV    911 - 980
YVVDCSSSGTSILTGSAIQVQNIKKDQTLKARIEIPSCKDVAPVEKTIKLLPSSHVARLQIFSVEGQKAI    981 - 1050
QIKHQDEVNWIAGDIMHNLIFQMYDEGEREINITSALAEKIKVNWTPEINKEHLLQGLLPDVQVPTSVKD   1051 - 1120
MRYCQVSFQDDHVSLESAFTVRPLPDEPKHLKCEMKGGKTVQMGQELQGEVVIIITDQYGNQIQAFSPSS   1121 - 1190
LSSLSIAGVGLDSSNLKTTFQENTQSISVRGIKFIPGPPGNKDLCFTWREFSDFIRVQLISGPPAKLLLI   1191 - 1260
DWPELKESIPVINGRDLQNPIIVQLCDQWDNPAPVQHVKISLTKASNLKLMPSNQQHKTDEKGRANLGVF   1261 - 1330
SVFAPRGEHTLQVKAIYNKSIIEGPIIKLMILPDPEKPVRLNVKYDKDASFLAGGLFTDFMISVISEDDS   1331 - 1400
IIKNINPARISMKMWKLSTSGNRPPANAETFSCNKIKDNDKEDGCFYFRDKVIPNKVGTYCIQFGFMMDK   1401 - 1470
TNILNSEQVIVEVLPNQPVKLVPKIKPPTPAVSNVRSVASRTLVRDLHLSITDDYDNHTGIDLVGTIIAT   1471 - 1540
IKGSNEEDTDTPLFIGKVRTLEFPFVNGSAEIMSLVLAESSPGRDSTEYFIVFEPRLPLLSRTLEPYILP   1541 - 1610
FMFYNDVKKQQQMAALTKEKDQLSQSIVMYKSLFEASQQLLNEMKCQVEEARLKEAQLRNELKIHNIDIP   1611 - 1680
TTQQVPHIEALLKRKLSEQEELKKKPRRSCTLPNYTKGSGDVLGKIAHLAQIEDDRAAMVISWHLASDMD   1681 - 1750
CVVTLTTDAARRIYDETQGRQQVLPLDSIYKKTLPDWKRSLPHFRNGKLYFKPIGDPVFARDLLTFPDNV   1751 - 1820
EHCETVFGMLLGDTIILDNLDAANHYRKEVVKITHCPTLLTRDGDRIRSNGKFGGLQNKAPPMDKLRGMV   1821 - 1890
FGAPVPKQCLILGEQIDLLQQYRSAVCKLDSVNKDLNSQLEYLRTPDMRKKKQELDEHEKNLKLIEEKLG   1891 - 1960
MTPIRKCNDSLRHSPKVETTDCPVPPKRMRREATRQNRIITKTDV                            1961 - 2005
//

Text Mined References (32)

PMID Year Title
26485182 2016 Recurrent major depression and right hippocampal volume: A bivariate linkage and association study.
26446085 2015 Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.
26391951 2015 Independent Mechanisms Target SMCHD1 to Trimethylated Histone H3 Lysine 9-Modified Chromatin and the Inactive X Chromosome.
26356006 2015 Genetic and epigenetic contributors to FSHD.
25820463 2015 Hemizygosity for SMCHD1 in Facioscapulohumeral Muscular Dystrophy Type 2: Consequences for 18p Deletion Syndrome.
25782668 2016 Double SMCHD1 variants in FSHD2: the synergistic effect of two SMCHD1 variants on D4Z4 hypomethylation and disease penetrance in FSHD2.
25370034 2015 Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1.
25294876 2014 Structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1) promotes non-homologous end joining and inhibits homologous recombination repair upon DNA damage.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
24818964 2014 Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters.
24800985 2014 Genome-wide association study of maternal and inherited loci for conotruncal heart defects.
24270157 2013 A quantitative telomeric chromatin isolation protocol identifies different telomeric states.
24128691 2013 Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
24075187 2013 The FSHD2 gene SMCHD1 is a modifier of disease severity in families affected by FSHD1.
23542155 2013 Human inactive X chromosome is compacted through a PRC2-independent SMCHD1-HBiX1 pathway.
23269277 2013 Epigenetic regulator Smchd1 functions as a tumor suppressor.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23143600 2012 Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17567985 2007 Distinct class of putative "non-conserved" promoters in humans: comparative studies of alternative promoters of human and mouse genes.
16461635 2006 Decoding the fine-scale structure of a breast cancer genome and transcriptome.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16177791 2005 DNA sequence and analysis of human chromosome 18.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10737800 2000 Shotgun sequencing of the human transcriptome with ORF expressed sequence tags.
9734811 1998 Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.