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> Protein (NX_A6NHR9)
Protein (NX_A6NHR9)
Protein
Gene SymbolSMCHD1 to neXtProt (NX_A6NHR9)
DescriptionStructural maintenance of chromosomes flexible hinge domain-containing protein 1
Chromosome18
Location18p11.32 (2655737 ~ 2805015) to Ensembl
Sequene Features : Isoforms 3, Variants 134, PTMs 14 to neXtProt Sequence Features
Gene
Ontologies
GO: Biological Process GO: Mulecular Function GO: Cellular Component
.inactivation of X chromosome by DNA methylation
.chromosome organization
.ATP binding .Barr body
Proteomic Evidences
ReleaseProtein EvidencePrAbIsoformsVariantsPTMs
2015-01-01protein level
3 134 14
2014-09-19protein level
3 129 14
2014-05-27protein level
3 129 14
2014-02-25protein level
3 102 13
2013-12-09protein level
3 73 13
2013-11-01protein level
3 73 5
2013-09-12protein level
3 73 5
2013-08-17protein level
3 73 5
2013-07-15protein level
3 48 3
2013-06-11protein level
3 48 3
2013-02-12protein level
3 16 9
2012-12-20protein level
3 17 9
2012-10-30protein level
3 28 9
2012-10-07protein level
3 28 4
2012-08-24protein level
3 28 4
2012-07-28protein level
3 28 4
2012-06-08protein level
3 5 4
2012-05-07protein level
3 5 4
2012-04-10protein level
3 5 4
2012-01-13protein level
3 5 4
2011-12-20protein level
3 5 4
2011-11-11protein level
3 5 4
2011-08-23protein level
3 5 4
Protein Isoforms
Isoform Ac UGSMw (Da)
NX_A6NHR9-1
4 92 0 226230.4348
NX_A6NHR9-2
1 92 0 215608.8146
NX_A6NHR9-3
2 39 0 85910.1474
: Uniquely mapped peptide
: Gene-specific peptide
: Shared peptide
EST expression level of Protein Coding Gene (ref. NCBI UniGene EST)
Body Sites
TissuesTPM*
adipose tissue155
adrenal gland30
blood89
bone55
brain10
cervix41
connective tissue20
ear62
embryonic tissue61
eye95
heart11
intestine38
kidney23
liver48
lung35
lymph node211
mammary gland39
mouth45
muscle37
nerve128
ovary29
pancreas79
pharynx73
placenta24
prostate26
skin23
stomach146
testis29
thymus50
thyroid21
trachea115
uterus60
vascular19
Health State
TissuesTPM*
normal46
breast (mammary gland) tumor42
cervical tumor28
chondrosarcoma24
colorectal tumor26
gastrointestinal tumor118
germ cell tumor18
glioma9
head and neck tumor29
kidney tumor14
leukemia63
liver tumor31
lung tumor19
lymphoma27
non-neoplasia10
ovarian tumor26
pancreatic tumor66
primitive neuroectodermal tumor of the CNS7
prostate cancer38
retinoblastoma86
skin tumor15
soft tissue/muscle tissue tumor39
uterine tumor99
Developmental Stage
TissuesTPM*
adult49
embryoid body85
blastocyst81
neonate32
fetus44
infant42
juvenile17
TPM*: Transcripts per million; transcript expression level measured by expression sequence tags.
Expression level of Protein (ref. Human Protein Atlas)
RNA-Seq.
TissuesFPKM
adipose tissue16.7
adrenal gland10.3
appendix41
bone marrow64.2
cerebral cortex10.7
colon20.4
duodenum18
esophagus11.9
gallbladder19.7
heart muscle10.4
kidney8.9
liver7.6
lung16.2
lymph node47.6
ovary19.3
pancreas8.9
placenta17.3
prostate17.6
salivary gland7.7
skin9.2
small intestine20.6
spleen37
stomach18.9
testis28.3
thyroid gland14.6
urinary bladder25.7
Cancer
TumorNumber of patients and Staining levels
breast cancer
carcinoid
cervical cancer
colorectal cancer
endometrial cancer
glioma
head and neck cancer
liver cancer
lung cancer
lymphoma
melanoma
ovarian cancer
pancreatic cancer
prostate cancer
renal cancer
skin cancer
stomach cancer
testis cancer
thyroid cancer
urothelial cancer
RNA-seq colour codes
Highly expressed RNAs (FPKM >50)
Moderately expressed RNAs (50> FPKM >10)
Lower expressed RNAs (10> FPKM >1)
The lowest expressed RNAs (FPKM value of 0 or 1)
Staining level colour codes
Highly expressed protein
Moderately expressed protein
Lower expressed protein
Not Detected
Disease
No.Disease DescriptionRef.
1(%158901, phenotype) Facioscapulohumeral muscular dystrophy 1b; FSHMD1BOMIM


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