Property Summary

NCBI Gene PubMed Count 596
PubMed Score 807.67
PubTator Score 744.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (8)

Disease Target Count P-value
non-small cell lung cancer 2798 3.53866592453775E-21
Breast cancer 3099 7.51293306816132E-21
glioblastoma multiforme 347 4.10242164612589E-18
posterior fossa group A ependymoma 1511 1.83844932846085E-12
breast carcinoma 1614 1.4691486462181E-11
tuberculosis 1563 4.75924725445288E-11
urothelial carcinoma 318 1.21998928316779E-8
sonic hedgehog group medulloblastoma 1482 7.86682005880727E-8
juvenile dermatomyositis 1189 4.06270670882005E-7
ovarian cancer 8492 4.3298786193647E-7
Duchenne muscular dystrophy 602 4.55742334540628E-7
medulloblastoma, large-cell 6234 1.92692764100849E-6
lung adenocarcinoma 2714 3.95606522509404E-6
nasopharyngeal carcinoma 1056 1.10355799775254E-5
pancreatic cancer 2300 2.23065815530522E-5
primary pancreatic ductal adenocarcinoma 1271 2.67739207746508E-5
atypical teratoid / rhabdoid tumor 4369 3.72511713609733E-5
pilocytic astrocytoma 3086 3.78706774558302E-5
lung cancer 4473 3.84738755138773E-5
ulcerative colitis 2087 3.88193791031623E-4
psoriasis 6685 6.09217246122716E-4
limb girdle muscular dystrophy 2A 156 0.00113736935564828
pediatric high grade glioma 2712 0.00137020416162478
primitive neuroectodermal tumor 3031 0.00230837963173017
interstitial lung disease 292 0.00550624426512193
primary Sjogren syndrome 789 0.00588126341032684
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00670673140679032
pituitary cancer 1972 0.00818004030169981
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.00868527154663315
adrenocortical carcinoma 1427 0.00982927653331751
gastric carcinoma 832 0.0165979000577094
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0177316536674472
Becker muscular dystrophy 187 0.0179796786268871
invasive ductal carcinoma 2950 0.0186976267691655
esophageal adenocarcinoma 737 0.0190553920760902
interstitial cystitis 2299 0.0202478329598802
head and neck cancer and chronic obstructive pulmonary disease 237 0.0213070155923059
active Crohn's disease 918 0.0233750811922822
colon cancer 1475 0.0288803926254495
ductal carcinoma in situ 1745 0.0327185144829634
Gaucher disease type 3 76 0.0331146043910626
pterygium 74 0.0387127200406337
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Organ system cancer 15 0.0 2.0
Disease Target Count Z-score Confidence
Osteogenesis imperfecta 34 7.892 3.9
Ehlers-Danlos syndrome 42 5.137 2.6

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  

  Ortholog (9)

Species Source
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Horse OMA EggNOG
Cow OMA EggNOG Inparanoid
Opossum OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

 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...