Property Summary

NCBI Gene PubMed Count 596
Grant Count 183
R01 Count 108
Funding $17,470,835.72
PubMed Score 807.67
PubTator Score 744.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (80)

Disease Z-score Confidence
Osteogenesis imperfecta 34 7.892 3.9
Dermatofibrosarcoma protuberans 16 6.669 3.3
Dentinogenesis imperfecta 24 5.48 2.7
Caffey disease 5 5.474 2.7
Ehlers-Danlos syndrome 42 5.137 2.6
Osteoporosis 257 4.915 2.5
Otosclerosis 13 4.589 2.3
Bruck syndrome 8 4.227 2.1
Osteoarthritis 96 3.768 1.9
Systemic scleroderma 66 3.57 1.8
Cutaneous fibrous histiocytoma 16 3.35 1.7
Scoliosis 40 3.192 1.6
Myopia 99 3.033 1.5
Aneurysm, Dissecting 5
Aortic valve insufficiency 22
Becker muscular dystrophy 187
Breast cancer 3,094
Calcinosis 62
Carcinoma 2,147 1.0
Cortical Congenital Hyperostosis 2
Duchenne muscular dystrophy 602
EHLERS-DANLOS SYNDROME, ARTHROCHALASIA T... 3 
Ehlers-Danlos syndrome type 1 3
Fibrosis 40
Gaucher disease type 3 76
Heart valve disease 24
Hypertensive disease 193
Keloid 34
Left Ventricular Hypertrophy 24
Liver Cirrhosis 101
Lobstein's Disease 2
Malignant neoplasm of breast 63
Nephrogenic Fibrosing Dermopathy 3
Nephrotic Syndrome 48
OI/EDS Combined Syndrome 1
Oral Submucous Fibrosis 18
Organ system cancer 15 2.0
Osteogenesis imperfecta type III (disord... 11 
Osteogenesis imperfecta type IV (disorde... 10 
Osteogenesis imperfecta, dominant perina... 2 
Osteogenesis imperfecta, recessive perin... 2 
Spontaneous abortion 108
active Crohn's disease 918
adrenocortical carcinoma 1,427
atypical teratoid / rhabdoid tumor 4,369
autosomal dominant Emery-Dreifuss muscul... 499 
breast carcinoma 1,614
colon cancer 1,475
ductal carcinoma in situ 1,745
esophageal adenocarcinoma 737
gastric carcinoma 832
glioblastoma multiforme 347
head and neck cancer and chronic obstruc... 237 
interstitial cystitis 2,299
interstitial lung disease 291
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
invasive ductal carcinoma 2,950
juvenile dermatomyositis 1,189
limb girdle muscular dystrophy 2A 156
lung adenocarcinoma 2,713
lung cancer 4,466
medulloblastoma, large-cell 6,234
nasopharyngeal carcinoma 1,056
non-small cell lung cancer 2,798
ovarian cancer 8,484
pancreatic cancer 2,300
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
pituitary cancer 1,972
posterior fossa group A ependymoma 1,511
primary Sjogren syndrome 789
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
pterygium 74
sonic hedgehog group medulloblastoma 1,482
tuberculosis 1,557
ulcerative colitis 2,087
urothelial carcinoma 318

Expression

  Differential Expression (42)

Disease log2 FC p
interstitial lung disease 2.700 0.006
urothelial carcinoma 3.800 0.000
posterior fossa group A ependymoma 3.400 0.000
esophageal adenocarcinoma 2.800 0.019
psoriasis -2.500 0.001
glioblastoma multiforme 3.600 0.000
sonic hedgehog group medulloblastoma 4.200 0.000
atypical teratoid / rhabdoid tumor 3.500 0.000
medulloblastoma, large-cell 4.700 0.000
primitive neuroectodermal tumor 2.900 0.002
Duchenne muscular dystrophy 4.060 0.000
limb girdle muscular dystrophy 2A 2.755 0.001
autosomal dominant Emery-Dreifuss muscul... 1.911 0.009
Becker muscular dystrophy 2.854 0.018
juvenile dermatomyositis 2.694 0.000
adrenocortical carcinoma 1.888 0.010
tuberculosis -5.300 0.000
primary pancreatic ductal adenocarcinoma 4.975 0.000
non-small cell lung cancer 3.511 0.000
intraductal papillary-mucinous adenoma (... -2.400 0.007
intraductal papillary-mucinous carcinoma... -2.400 0.018
colon cancer 1.700 0.029
lung cancer 3.000 0.000
active Crohn's disease 1.936 0.023
ulcerative colitis 3.000 0.000
pancreatic cancer 5.000 0.000
interstitial cystitis 1.500 0.020
lung adenocarcinoma 3.003 0.000
pediatric high grade glioma 2.400 0.001
pilocytic astrocytoma 2.800 0.000
primary Sjogren syndrome 1.900 0.006
invasive ductal carcinoma 2.213 0.019
nasopharyngeal carcinoma 2.600 0.000
breast carcinoma 2.100 0.000
Breast cancer 4.400 0.000
gastric carcinoma 3.800 0.017
pterygium 1.800 0.039
ductal carcinoma in situ 2.300 0.033
ovarian cancer 4.300 0.000
Gaucher disease type 3 1.200 0.033
pituitary cancer -2.000 0.008
head and neck cancer and chronic obstruc... 1.200 0.021

Gene

PDB

1Q7D   2LLP   3EJH   3GXE   5CTD   5CTI   5CVA   5CVB  

 GWAS Trait (1)

Gene RIF (504)

PMID Text
27454992 Two gross deletions have been found in the genes coding for collagen type I in the Chinese osteogenesis imperfecta population, and the deletion of exons 17 to 23 in the COL1A2 gene is a novel mutation.
27060301 3235G>A and 3247G>A mutations in exon 45 of the COL1A1 gene cause osteogenesis imperfect.
26995940 COL1A1 polymorphisms showed any influence of these genetic variants on osteoporosis development in Polish postmenopausal women
26932148 Case Report: congenital atrophic dermatofibrosarcoma protuberans with COL1A1-PDGFB rearrangement.
26894886 Mast cell density and expression of MMP-9, RANKL and Ntx correlated positively with of bone disease severity in multiple myeloma patients.
26887942 Productive complex between MMP-12 and synthetic triple-helical collagen V, are revealed through paramagnetic NMR.
26852534 There were no statistically significant relationships of BS with a particular genotype of rs1800012 polymorphism 1f1COLIAI gene in all examined women.
26727275 Results showed that the presence of the 's' allele of the COL1A1 Sp1 polymorphism in individuals with epilepsy was related to lower bone mineral density in the lumbar and femur and thus an increased risk of osteoporosis.
26645431 glycosylation differences in human bone alkaline phosphatases are of crucial importance for protein-protein interactions with collagen type I
26634493 A novel 1-bp deletion (c.2329delG, p.A777fs) in exon 33 of the COL1A1 gene.
More...

AA Sequence

MFSFVDLRLLLLLAATALLTHGQEEGQVEGQDEDIPPITCVQNGLRYHDRDVWKPEPCRICVCDNGKVLC      1 - 70
DDVICDETKNCPGAEVPEGECCPVCPDGSESPTDQETTGVEGPKGDTGPRGPRGPAGPPGRDGIPGQPGL     71 - 140
PGPPGPPGPPGPPGLGGNFAPQLSYGYDEKSTGGISVPGPMGPSGPRGLPGPPGAPGPQGFQGPPGEPGE    141 - 210
PGASGPMGPRGPPGPPGKNGDDGEAGKPGRPGERGPPGPQGARGLPGTAGLPGMKGHRGFSGLDGAKGDA    211 - 280
GPAGPKGEPGSPGENGAPGQMGPRGLPGERGRPGAPGPAGARGNDGATGAAGPPGPTGPAGPPGFPGAVG    281 - 350
AKGEAGPQGPRGSEGPQGVRGEPGPPGPAGAAGPAGNPGADGQPGAKGANGAPGIAGAPGFPGARGPSGP    351 - 420
QGPGGPPGPKGNSGEPGAPGSKGDTGAKGEPGPVGVQGPPGPAGEEGKRGARGEPGPTGLPGPPGERGGP    421 - 490
GSRGFPGADGVAGPKGPAGERGSPGPAGPKGSPGEAGRPGEAGLPGAKGLTGSPGSPGPDGKTGPPGPAG    491 - 560
QDGRPGPPGPPGARGQAGVMGFPGPKGAAGEPGKAGERGVPGPPGAVGPAGKDGEAGAQGPPGPAGPAGE    561 - 630
RGEQGPAGSPGFQGLPGPAGPPGEAGKPGEQGVPGDLGAPGPSGARGERGFPGERGVQGPPGPAGPRGAN    631 - 700
GAPGNDGAKGDAGAPGAPGSQGAPGLQGMPGERGAAGLPGPKGDRGDAGPKGADGSPGKDGVRGLTGPIG    701 - 770
PPGPAGAPGDKGESGPSGPAGPTGARGAPGDRGEPGPPGPAGFAGPPGADGQPGAKGEPGDAGAKGDAGP    771 - 840
PGPAGPAGPPGPIGNVGAPGAKGARGSAGPPGATGFPGAAGRVGPPGPSGNAGPPGPPGPAGKEGGKGPR    841 - 910
GETGPAGRPGEVGPPGPPGPAGEKGSPGADGPAGAPGTPGPQGIAGQRGVVGLPGQRGERGFPGLPGPSG    911 - 980
EPGKQGPSGASGERGPPGPMGPPGLAGPPGESGREGAPGAEGSPGRDGSPGAKGDRGETGPAGPPGAPGA    981 - 1050
PGAPGPVGPAGKSGDRGETGPAGPTGPVGPVGARGPAGPQGPRGDKGETGEQGDRGIKGHRGFSGLQGPP   1051 - 1120
GPPGSPGEQGPSGASGPAGPRGPPGSAGAPGKDGLNGLPGPIGPPGPRGRTGDAGPVGPPGPPGPPGPPG   1121 - 1190
PPSAGFDFSFLPQPPQEKAHDGGRYYRADDANVVRDRDLEVDTTLKSLSQQIENIRSPEGSRKNPARTCR   1191 - 1260
DLKMCHSDWKSGEYWIDPNQGCNLDAIKVFCNMETGETCVYPTQPSVAQKNWYISKNPKDKRHVWFGESM   1261 - 1330
TDGFQFEYGGQGSDPADVAIQLTFLRLMSTEASQNITYHCKNSVAYMDQQTGNLKKALLLQGSNEIEIRA   1331 - 1400
EGNSRFTYSVTVDGCTSHTGAWGKTVIEYKTTKTSRLPIIDVAPLDVGAPDQEFGFDVGPVCFL         1401 - 1464
//

Text Mined References (605)

PMID Year Title
27454992 2016 [Analysis of gross deletions of COL1A1/2 genes in Chinese families affected with osteogenesis imperfecta].
27060301 2016 [Analysis of type IV osteogenesis imperfecta caused by two mutations occurred simultaneously in COL1A1 gene in a Chinese child].
26995940 2015 Polymorphisms of collagen 1A1 (COL1A1) gene and their relation to bone mineral density in postmenopausal women.
26932148 2016 Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.
26894886 2015 The Impact of Mast Cell Density on the Progression of Bone Disease in Multiple Myeloma Patients.
26887942 2016 Path to Collagenolysis: COLLAGEN V TRIPLE-HELIX MODEL BOUND PRODUCTIVELY AND IN ENCOUNTERS BY MATRIX METALLOPROTEINASE-12.
26852534 2015 [The study of rs1800012 polymorphism of the alphal-chain collagen type 1 gene in Moscow women and children with different level of bone strength].
26727275 2016 The COL1A1 SP1 polymorphism is associated with lower bone mineral density in patients treated with valproic acid.
26645431 2016 Glycation Contributes to Interaction Between Human Bone Alkaline Phosphatase and Collagen Type I.
26634493 2015 A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta.
More...