Property Summary

NCBI Gene PubMed Count 82
Grant Count 13
R01 Count 11
Funding $819,144.25
PubMed Score 711.87
PubTator Score 85.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (51)

Disease Z-score Confidence
Spinal cord disease 22 7.816 3.9
Spondylosis 13 6.624 3.3
Diffuse idiopathic skeletal hyperostosis 6 6.516 3.3
Radiculopathy 15 5.666 2.8
Muscular dystrophy 48 5.171 2.6
Spinal stenosis 15 5.093 2.5
Quadriplegia 14 4.234 2.1
Hyperostosis 16 4.097 2.0
Adult spinal muscular atrophy 2 3.643 1.8
Down syndrome 548 3.587 1.8
Ankylosing spondylitis 138 3.213 1.6
Becker muscular dystrophy 187
Bethlem myopathy 5 5.0
Carcinoma 2,147 1.0
Congenital muscular dystrophy (disorder) 8
Duchenne muscular dystrophy 602
Gaucher disease type 1 171
Lung Neoplasms 171
OSSIFICATION OF THE POSTERIOR LONGITUDIN... 4 
Polycystic Ovary Syndrome 332
Scleroatonic muscular dystrophy 3
Spontaneous abortion 108
Ullrich congenital muscular dystrophy 7 5.0
astrocytoma 1,493
atypical teratoid / rhabdoid tumor 4,369
autosomal dominant Emery-Dreifuss muscul... 499 
dermatomyositis 933
diabetes mellitus 1,663
ependymoma 2,514
gastric carcinoma 832
glioblastoma 5,572
interstitial lung disease 291
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 cancer 4,466
medulloblastoma 1,524
medulloblastoma, large-cell 6,234
oligodendroglioma 2,849
osteosarcoma 7,933
ovarian cancer 8,484
pancreatic cancer 2,300
pediatric high grade glioma 2,712
pilocytic astrocytoma 3,086
primary pancreatic ductal adenocarcinoma 1,271
primitive neuroectodermal tumor 3,031
psoriasis 6,685
ulcerative colitis 2,087

Expression

 MGI Term (1)

Gene RIF (47)

PMID Text
26447986 Type VI collagen and activated retinal Muller cells are present in iERM.
26317545 COL6A1 may have a role in progression and outcome of clear cell renal cell carcinoma
25978941 is the first report of UCMD recurrence in 2 siblings due to a germline mosaic COL6 gene mutation
25925694 upregulated in the airways of chronic obstructive pulmonary disease patients and exposed upon epithelial desquamation
25535305 worsening of the functional disability appeared typically after the age of 40 in 47% of our patients with Bethlem myopathy, and was frequently associated with COL6A1 exon 14 skipping
25325876 Data indicate that collagen-VI-alpha-1 (COL6A1) is expressed in all grades of glioma.
25204870 Parental mosaicism was confirmed in the four families through quantitative analysis of the ratio of mutant versus wild-type allele (COL6A1, COL6A2, and COL6A3) in genomic DNA from various tissues; consistent with somatic mosaicism, parental samples had lower ratios of mutant versus wild-type allele compared with the fully heterozygote offspring.
25176343 Data suggest the potential role of COL6 in promoting lung neoplasia in diseased lungs where COL6 is overexpressed.
25073002 The second main finding of this study was that COL6A1 rs35796750 did not associate with the risk of anterior cruciate ligament injury in the self-reported Caucasian South African cohort.
24801232 In UCDM, 1 mutation was indentified in COL6A1 in Chinese patients.
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AA Sequence

MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFI      1 - 70
DNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQL     71 - 140
LVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYR    141 - 210
RNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEK    211 - 280
GEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPG    281 - 350
FDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA    351 - 420
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGDEGPPGSEGAR    421 - 490
GAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNN    491 - 560
DIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQN    561 - 630
FEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGG    631 - 700
TFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLN    701 - 770
VISCQGLAPSQGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV    771 - 840
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFI    841 - 910
NDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGRQVNE    911 - 980
PHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG                          981 - 1028
//

Text Mined References (87)

PMID Year Title
26447986 2015 Immunohistochemical Evaluation of Idiopathic Epiretinal Membranes and In Vitro Studies on the Effect of TGF-? on Müller Cells.
26317545 2015 Upregulation of COL6A1 is predictive of poor prognosis in clear cell renal cell carcinoma patients.
25978941 2015 Paternal germline mosaicism in collagen VI related myopathies.
25925694 2015 Collagen VI Is Upregulated in COPD and Serves Both as an Adhesive Target and a Bactericidal Barrier for Moraxella catarrhalis.
25535305 2015 Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
25325876 2014 Accessibilome of human glioblastoma: collagen-VI-alpha-1 is a new target and a marker of poor outcome.
25204870 2015 Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
25176343 2014 Overexpression of type VI collagen in neoplastic lung tissues.
25073002 2015 Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.
24801232 2014 Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy.
More...