Property Summary

NCBI Gene PubMed Count 164
Grant Count 49
R01 Count 30
Funding $6,848,032.1
PubMed Score 1233.58
PubTator Score 984.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (59)

Disease Z-score Confidence
Angioedema 36 8.747 4.0
C1 inhibitor deficiency 9 7.064 3.5
Urticaria 53 5.212 2.6
Lupus erythematosus 80 3.632 1.8
Age related macular degeneration 84 3.289 1.6
Vascular disease 281 3.285 1.6
Allergic hypersensitivity disease 123 3.158 1.6
Acquired angioedema 2
Angioedemas, Hereditary 3
Breast cancer 3,094
Complement Component 4, Partial Deficien... 1 
Duchenne muscular dystrophy 602
Hereditary Angioedema Type I 1
Hereditary Angioedema Type II 1
Hereditary Angioedema Types I and II 2
Hereditary C1 esterase inhibitor deficie... 1 
Hereditary C1 esterase inhibitor deficie... 1 
Hereditary angioedema 4 5.0
Influenza 142
Lupus Nephritis 6
Multiple Sclerosis 498
Polycystic Ovary Syndrome 332
acute quadriplegic myopathy 1,157
adrenocortical carcinoma 1,427
adult high grade glioma 2,148
atypical teratoid / rhabdoid tumor 4,369
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
chronic kidney disease 90
cystic fibrosis 1,665
dermatomyositis 933
ductal carcinoma in situ 1,745
fibroadenoma 557
gastric carcinoma 832
glioblastoma multiforme 347
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pilocytic astrocytoma 3,086
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primitive neuroectodermal tumor 3,031
psoriasis 6,685
sarcoidosis 358
sonic hedgehog group medulloblastoma 1,482
subependymal giant cell astrocytoma 2,287
systemic lupus erythematosus 156
tuberculosis 1,557
ulcerative colitis 2,087

Expression

  Differential Expression (41)

Disease log2 FC p
systemic lupus erythematosus 1.400 0.009
malignant mesothelioma -6.300 0.000
psoriasis -1.100 0.000
glioblastoma multiforme 1.700 0.000
posterior fossa group A ependymoma 2.400 0.000
atypical teratoid / rhabdoid tumor 1.500 0.001
primitive neuroectodermal tumor 1.200 0.024
Duchenne muscular dystrophy 1.679 0.000
limb girdle muscular dystrophy 2A 1.305 0.000
autosomal dominant Emery-Dreifuss muscul... 1.233 0.010
juvenile dermatomyositis 2.189 0.000
acute quadriplegic myopathy 1.375 0.000
adrenocortical carcinoma -2.357 0.000
chronic kidney disease 1.300 0.018
tuberculosis 2.500 0.004
pancreatic ductal adenocarcinoma liver m... -2.161 0.020
non-small cell lung cancer -1.391 0.000
intraductal papillary-mucinous adenoma (... -2.600 0.002
intraductal papillary-mucinous carcinoma... -2.700 0.006
intraductal papillary-mucinous neoplasm ... -3.200 0.000
lung cancer -2.700 0.000
fibroadenoma -1.300 0.000
Multiple Sclerosis 1.600 0.039
cystic fibrosis 2.500 0.000
adult high grade glioma 1.600 0.003
pilocytic astrocytoma 2.800 0.000
sonic hedgehog group medulloblastoma 1.100 0.010
sarcoidosis 1.400 0.001
subependymal giant cell astrocytoma 1.812 0.012
lung adenocarcinoma -1.800 0.000
Breast cancer -1.400 0.017
Polycystic Ovary Syndrome 1.600 0.046
lung carcinoma -3.300 0.000
breast carcinoma -1.100 0.000
gastric carcinoma 1.500 0.013
ductal carcinoma in situ -1.500 0.000
invasive ductal carcinoma -1.700 0.001
ulcerative colitis 2.300 0.000
ovarian cancer -3.700 0.000
pituitary cancer -2.700 0.000
dermatomyositis 1.200 0.021

Gene RIF (109)

PMID Text
26895475 This family-based study provides the first evidence that multiple amino acid substitutions in SERPING1 could influence Hereditary angioedema due to C1-inhibitor deficiency phenotype
26890881 the ratio of serum proteoglycan 4 to protease C1 inhibitor may be used for screening of early breast cancer.
26812872 This study represents the first Brazilian HAE cohort evaluated for SERPING1 gene mutations and it introduces the possibility to perform genetic analysis in case of need for differential diagnosis.
26782794 Enhancement of C1INH activity was not observed in the refractory septic shock patients, and the C1INH quantitative values were low.
26535898 Novel mutations in the SERPING1 gene are linked to Hereditary Angioedema.
26476955 Suggest that endogenous C1-inhibitor is likely involved in the regulation of complement activity in the myocardium following acute myocardial infarction.
26371246 The levels of MASP-1 and MASP-1/C1-INH complexes are reduced in HAE patients compared with controls. Both MASP-1 and MASP-1/C1-INH complexes are related to the degree of complement C4 consumption
26347576 Studied human C1INH and found at therapeutically relevant doses, it blocks malaria parasite invasion and cytoadhesion.
26154504 SERPING1 mutations in Norwegian patients with Hereditary angioedema with C1 inhibitor deficiency, are reported.
25800435 SERPING1 is not a major genetic component of AMD or PCV in East Asians but is a genetic risk factor for AMD in Caucasians, providing evidence for an ethnic diversity in the genetic etiology of AMD.
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AA Sequence

MASRLTLLTLLLLLLAGDRASSNPNATSSSSQDPESLQDRGEGKVATTVISKMLFVEPILEVSSLPTTNS      1 - 70
TTNSATKITANTTDEPTTQPTTEPTTQPTIQPTQPTTQLPTDSPTQPTTGSFCPGPVTLCSDLESHSTEA     71 - 140
VLGDALVDFSLKLYHAFSAMKKVETNMAFSPFSIASLLTQVLLGAGENTKTNLESILSYPKDFTCVHQAL    141 - 210
KGFTTKGVTSVSQIFHSPDLAIRDTFVNASRTLYSSSPRVLSNNSDANLELINTWVAKNTNNKISRLLDS    211 - 280
LPSDTRLVLLNAIYLSAKWKTTFDPKKTRMEPFHFKNSVIKVPMMNSKKYPVAHFIDQTLKAKVGQLQLS    281 - 350
HNLSLVILVPQNLKHRLEDMEQALSPSVFKAIMEKLEMSKFQPTLLTLPRIKVTTSQDMLSIMEKLEFFD    351 - 420
FSYDLNLCGLTEDPDLQVSAMQHQTVLELTETGVEAAAASAISVARTLLVFEVQQPFLFVLWDQQHKFPV    421 - 490
FMGRVYDPRA                                                                491 - 500
//

Text Mined References (175)

PMID Year Title
26895475 2016 Hereditary angioedema in a Jordanian family with a novel missense mutation in the C1-inhibitor N-terminal domain.
26890881 2016 Unmasking Heavily O-Glycosylated Serum Proteins Using Perchloric Acid: Identification of Serum Proteoglycan 4 and Protease C1 Inhibitor as Molecular Indicators for Screening of Breast Cancer.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26812872 2016 New mutations in SERPING1 gene of Brazilian patients with hereditary angioedema.
26782794 2016 Serial change of C1 inhibitor in patients with sepsis--a preliminary report.
26535898 2015 Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association.
26476955 Endogenous C1-inhibitor production and expression in the heart after acute myocardial infarction.
26371246 2015 The Levels of the Lectin Pathway Serine Protease MASP-1 and Its Complex Formation with C1 Inhibitor Are Linked to the Severity of Hereditary Angioedema.
26347576 2016 Human C1-Inhibitor Suppresses Malaria Parasite Invasion and Cytoadhesion via Binding to Parasite Glycosylphosphatidylinositol and Host Cell Receptors.
26154504 2015 A Nationwide Study of Norwegian Patients with Hereditary Angioedema with C1 Inhibitor Deficiency Identified Six Novel Mutations in SERPING1.
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