Property Summary

NCBI Gene PubMed Count 150
Grant Count 40
R01 Count 23
Funding $9,977,441.3
PubMed Score 363.45
PubTator Score 379.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma 2.300 0.000
psoriasis -1.100 0.000
cutaneous lupus erythematosus -1.200 0.022
osteosarcoma 1.666 0.000
non-small cell lung cancer 1.707 0.000
intraductal papillary-mucinous carcinoma... 1.100 0.012
Hydrolethalus syndrome 1.276 0.039
interstitial cystitis 1.600 0.002
primary Sjogren syndrome -1.200 0.021
Breast cancer -1.200 0.000
ulcerative colitis 1.400 0.009

Gene RIF (91)

PMID Text
26897595 COL7A1 mutations have a role in Recessive Dystrophic Epidermolysis Bullosa and can be corrected meganuclease-mediated homology-directed repair
26586712 Novel dystrophic epidermolysis bullosa COL7a1 framshift mutation c.5493delG (p.K1831Nfs*10) in exon 64 leads to a premature termination codon located 10 amino acids downstream in exon 64 (p.K1831Nfs*10) and is expected to result in a loss of function.
26568311 TANGO1 is thus pivotal in concentrating procollagen VII in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum.
26476432 Type VII collagen suppresses TGFbeta signaling and angiogenesis in cutaneous SCC (squamous cell carcinoma). Patients with recessive dystrophic epidermolysis bullosa (RDEB) SCC may benefit from anti-angiogenic therapy.
26472200 In conclusion, we identified a Japanese founder recurrent mutation of c.6216 + 5G > T, inducing aberrant splicing of COL7A1 and tending to cause a mild phenotype of recessive dystrophic epidermolysis bullosa
26066885 Gene therapy is successful in the treatment of hereditary epidermolysis bullosa dystrophica.
25689103 autoantibodies to COL7, independent of the targeted epitopes, induce blisters both ex vivo and in vivo
25639640 Collagen Type VII missense mutation is responsible for the development of recessive bullous epidermolysis.
25566895 A novel dominantnegative heterozygous acceptor splice site mutation in the COL7A1 gene (IVS671G>T) was found in both our patient and his youngest son.
25425313 COL7A1 mutation was diagnosed with next generation sequencing in patient with dystrophic epidermolysis bullosa.
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AA Sequence

MTLRLLVAALCAGILAEAPRVRAQHRERVTCTRLYAADIVFLLDGSSSIGRSNFREVRSFLEGLVLPFSG      1 - 70
AASAQGVRFATVQYSDDPRTEFGLDALGSGGDVIRAIRELSYKGGNTRTGAAILHVADHVFLPQLARPGV     71 - 140
PKVCILITDGKSQDLVDTAAQRLKGQGVKLFAVGIKNADPEELKRVASQPTSDFFFFVNDFSILRTLLPL    141 - 210
VSRRVCTTAGGVPVTRPPDDSTSAPRDLVLSEPSSQSLRVQWTAASGPVTGYKVQYTPLTGLGQPLPSER    211 - 280
QEVNVPAGETSVRLRGLRPLTEYQVTVIALYANSIGEAVSGTARTTALEGPELTIQNTTAHSLLVAWRSV    281 - 350
PGATGYRVTWRVLSGGPTQQQELGPGQGSVLLRDLEPGTDYEVTVSTLFGRSVGPATSLMARTDASVEQT    351 - 420
LRPVILGPTSILLSWNLVPEARGYRLEWRRETGLEPPQKVVLPSDVTRYQLDGLQPGTEYRLTLYTLLEG    421 - 490
HEVATPATVVPTGPELPVSPVTDLQATELPGQRVRVSWSPVPGATQYRIIVRSTQGVERTLVLPGSQTAF    491 - 560
DLDDVQAGLSYTVRVSARVGPREGSASVLTVRREPETPLAVPGLRVVVSDATRVRVAWGPVPGASGFRIS    561 - 630
WSTGSGPESSQTLPPDSTATDITGLQPGTTYQVAVSVLRGREEGPAAVIVARTDPLGPVRTVHVTQASSS    631 - 700
SVTITWTRVPGATGYRVSWHSAHGPEKSQLVSGEATVAELDGLEPDTEYTVHVRAHVAGVDGPPASVVVR    701 - 770
TAPEPVGRVSRLQILNASSDVLRITWVGVTGATAYRLAWGRSEGGPMRHQILPGNTDSAEIRGLEGGVSY    771 - 840
SVRVTALVGDREGTPVSIVVTTPPEAPPALGTLHVVQRGEHSLRLRWEPVPRAQGFLLHWQPEGGQEQSR    841 - 910
VLGPELSSYHLDGLEPATQYRVRLSVLGPAGEGPSAEVTARTESPRVPSIELRVVDTSIDSVTLAWTPVS    911 - 980
RASSYILSWRPLRGPGQEVPGSPQTLPGISSSQRVTGLEPGVSYIFSLTPVLDGVRGPEASVTQTPVCPR    981 - 1050
GLADVVFLPHATQDNAHRAEATRRVLERLVLALGPLGPQAVQVGLLSYSHRPSPLFPLNGSHDLGIILQR   1051 - 1120
IRDMPYMDPSGNNLGTAVVTAHRYMLAPDAPGRRQHVPGVMVLLVDEPLRGDIFSPIREAQASGLNVVML   1121 - 1190
GMAGADPEQLRRLAPGMDSVQTFFAVDDGPSLDQAVSGLATALCQASFTTQPRPEPCPVYCPKGQKGEPG   1191 - 1260
EMGLRGQVGPPGDPGLPGRTGAPGPQGPPGSATAKGERGFPGADGRPGSPGRAGNPGTPGAPGLKGSPGL   1261 - 1330
PGPRGDPGERGPRGPKGEPGAPGQVIGGEGPGLPGRKGDPGPSGPPGPRGPLGDPGPRGPPGLPGTAMKG   1331 - 1400
DKGDRGERGPPGPGEGGIAPGEPGLPGLPGSPGPQGPVGPPGKKGEKGDSEDGAPGLPGQPGSPGEQGPR   1401 - 1470
GPPGAIGPKGDRGFPGPLGEAGEKGERGPPGPAGSRGLPGVAGRPGAKGPEGPPGPTGRQGEKGEPGRPG   1471 - 1540
DPAVVGPAVAGPKGEKGDVGPAGPRGATGVQGERGPPGLVLPGDPGPKGDPGDRGPIGLTGRAGPPGDSG   1541 - 1610
PPGEKGDPGRPGPPGPVGPRGRDGEVGEKGDEGPPGDPGLPGKAGERGLRGAPGVRGPVGEKGDQGDPGE   1611 - 1680
DGRNGSPGSSGPKGDRGEPGPPGPPGRLVDTGPGAREKGEPGDRGQEGPRGPKGDPGLPGAPGERGIEGF   1681 - 1750
RGPPGPQGDPGVRGPAGEKGDRGPPGLDGRSGLDGKPGAAGPSGPNGAAGKAGDPGRDGLPGLRGEQGLP   1751 - 1820
GPSGPPGLPGKPGEDGKPGLNGKNGEPGDPGEDGRKGEKGDSGASGREGRDGPKGERGAPGILGPQGPPG   1821 - 1890
LPGPVGPPGQGFPGVPGGTGPKGDRGETGSKGEQGLPGERGLRGEPGSVPNVDRLLETAGIKASALREIV   1891 - 1960
ETWDESSGSFLPVPERRRGPKGDSGEQGPPGKEGPIGFPGERGLKGDRGDPGPQGPPGLALGERGPPGPS   1961 - 2030
GLAGEPGKPGIPGLPGRAGGVGEAGRPGERGERGEKGERGEQGRDGPPGLPGTPGPPGPPGPKVSVDEPG   2031 - 2100
PGLSGEQGPPGLKGAKGEPGSNGDQGPKGDRGVPGIKGDRGEPGPRGQDGNPGLPGERGMAGPEGKPGLQ   2101 - 2170
GPRGPPGPVGGHGDPGPPGAPGLAGPAGPQGPSGLKGEPGETGPPGRGLTGPTGAVGLPGPPGPSGLVGP   2171 - 2240
QGSPGLPGQVGETGKPGAPGRDGASGKDGDRGSPGVPGSPGLPGPVGPKGEPGPTGAPGQAVVGLPGAKG   2241 - 2310
EKGAPGGLAGDLVGEPGAKGDRGLPGPRGEKGEAGRAGEPGDPGEDGQKGAPGPKGFKGDPGVGVPGSPG   2311 - 2380
PPGPPGVKGDLGLPGLPGAPGVVGFPGQTGPRGEMGQPGPSGERGLAGPPGREGIPGPLGPPGPPGSVGP   2381 - 2450
PGASGLKGDKGDPGVGLPGPRGERGEPGIRGEDGRPGQEGPRGLTGPPGSRGERGEKGDVGSAGLKGDKG   2451 - 2520
DSAVILGPPGPRGAKGDMGERGPRGLDGDKGPRGDNGDPGDKGSKGEPGDKGSAGLPGLRGLLGPQGQPG   2521 - 2590
AAGIPGDPGSPGKDGVPGIRGEKGDVGFMGPRGLKGERGVKGACGLDGEKGDKGEAGPPGRPGLAGHKGE   2591 - 2660
MGEPGVPGQSGAPGKEGLIGPKGDRGFDGQPGPKGDQGEKGERGTPGIGGFPGPSGNDGSAGPPGPPGSV   2661 - 2730
GPRGPEGLQGQKGERGPPGERVVGAPGVPGAPGERGEQGRPGPAGPRGEKGEAALTEDDIRGFVRQEMSQ   2731 - 2800
HCACQGQFIASGSRPLPSYAADTAGSQLHAVPVLRVSHAEEEERVPPEDDEYSEYSEYSVEEYQDPEAPW   2801 - 2870
DSDDPCSLPLDEGSCTAYTLRWYHRAVTGSTEACHPFVYGGCGGNANRFGTREACERRCPPRVVQSQGTG   2871 - 2940
TAQD                                                                     2941 - 2944
//

Text Mined References (153)

PMID Year Title
26897595 2016 Meganuclease-Mediated COL7A1 Gene Correction for Recessive Dystrophic Epidermolysis Bullosa.
26586712 2015 One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.
26568311 2015 TANGO1 recruits ERGIC membranes to the endoplasmic reticulum for procollagen export.
26476432 2016 Suppression of TGF? and Angiogenesis by Type VII Collagen in Cutaneous SCC.
26472200 2015 Japanese recurrent mutation c.6216+5G>T in COL7A1 leads to a mild phenotype of dystrophic epidermolysis bullosa.
26066885 2015 Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.
25689103 2015 Autoantibodies to Multiple Epitopes on the Non-Collagenous-1 Domain of Type VII Collagen Induce Blisters.
25639640 Recessive bullous dermolysis of the newborn in preterm siblings with a missense mutation in type VII collagen.
25566895 Epidermolysis bullosa pruriginosa: a case with a novel mutation and co-existent lichen amyloidosus.
25425313 2015 Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing.
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