Property Summary

NCBI Gene PubMed Count 82
PubMed Score 711.87
PubTator Score 85.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
Duchenne muscular dystrophy 602 4.13169509582412E-9
juvenile dermatomyositis 1189 1.18636755708084E-8
ovarian cancer 8492 6.08636419912334E-8
atypical teratoid / rhabdoid tumor 4369 1.25983593610039E-6
limb girdle muscular dystrophy 2A 156 1.04086393892706E-5
intraductal papillary-mucinous adenoma (IPMA) 2956 1.0994073613656E-5
glioblastoma 5572 1.67871873391778E-5
ulcerative colitis 2087 2.54081838852537E-5
pediatric high grade glioma 2712 7.89444094766611E-5
medulloblastoma, large-cell 6234 1.44198131059916E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 1.5776903200984E-4
medulloblastoma 1524 3.16965065345786E-4
osteosarcoma 7933 5.29320373752937E-4
psoriasis 6685 5.63944183172137E-4
pancreatic cancer 2300 6.64139329116761E-4
Becker muscular dystrophy 187 0.00112026065519979
astrocytoma 1493 0.00154251877149734
primary pancreatic ductal adenocarcinoma 1271 0.00161365111699222
oligodendroglioma 2849 0.0018851171402174
pilocytic astrocytoma 3086 0.00254409006019681
invasive ductal carcinoma 2950 0.00357997166150113
lung cancer 4473 0.00461919779957219
ependymoma 2514 0.00601658440924331
primitive neuroectodermal tumor 3031 0.00713894862790273
dermatomyositis 967 0.00940753326980314
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0106783525684396
autosomal dominant Emery-Dreifuss muscular dystrophy 499 0.0159436155552893
Gaucher disease type 1 171 0.0176106732320932
diabetes mellitus 1663 0.0179041216896466
gastric carcinoma 832 0.0188851761291034
interstitial lung disease 292 0.0269886616618205
Polycystic Ovary Syndrome 335 0.0399444977847542
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Ullrich congenital muscular dystrophy 7 0.0 5.0

Expression

Synonym

Accession P12109 O00117 O00118 Q14040 Q14041 Q16258 Q7Z645 Q9BSA8
Symbols OPLL
BTHLM1
UCHMD1

Gene

  Ortholog (11)

 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...