Property Summary

NCBI Gene PubMed Count 157
PubMed Score 371.72
PubTator Score 379.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal blistering of the skin 54
Abnormality of metabolism/homeostasis 134
Abnormality of nail of toe 11
Abnormality of the anus 6
Abnormality of the fingernails 51
Absent fingernails 7
Absent toenails (anonychia) 7
Alopecia 115
Anemia 365
Ankyloglossia 17
Aplasia Cutis Congenita 14
Atrophic condition of skin 25
Atrophic scar 18
Atrophy of tongue 4
Atypical scarring of skin 62
Autosomal recessive predisposition 1442
Blepharitis 23
Blister of skin 54
Boerhaave syndrome 1
Cataract 297
Cellulitis of eyelid 17
Cheilitis 6
Congenital localized absence of skin 6
Congenital scar 13
Conjunctivitis 53
Conjunctivitis, recurrent 37
Constipation 181
Contracture 96
Contracture of joint 93
Corneal Scar 7
Corneal erosion 16
Decreased visual acuity, progressive 36
Defective enamel matrix 35
Deglutition Disorders 132
Delayed Puberty 97
Dental Enamel Hypoplasia 43
Dental caries 164
Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) 1
Dyschezia 135
Dysplasia of tooth enamel 35
Dystrophia unguium 53
Dystrophic fingernails 18
Dystrophic toenail changes 12
Ectropion 38
Epidermolysis Bullosa Simplex Superficialis 1
Esophageal Stenosis 15
Flexion contracture 93
Flexion contractures of joints 93
Fragile skin 18
Generalized osteopenia 99
Growth delay 114
Growth failure 114
Growth retardation 115
Hallopeau-Siemens Disease 2
Hemoglobin low 124
Lens Opacities 231
Madarosis of eyelid 3
Malignant Squamous Cell Neoplasm 17
Malnutrition 11
Mammary Neoplasms 425
Microglossia 10
Microstomia 78
Milium Cyst 16
Nail dysplasia 52
Oral mucosal blistering 10
Osteopenia 99
Osteoporosis 363
Papule 43
Poor growth 114
Prenatal onset 139
Progressive visual loss 36
Pruritus 58
Pseudosyndactyly 3
Red and sore lips 5
Refractory anemias 6
Rotting teeth 73
Scarring alopecia of scalp 13
Skin Erosion 12
Skin Vesicle 5
Skin bulla 54
Skin nodule 3
Small tongue 10
Squamous cell carcinoma 129
Squamous cell carcinoma of skin 11
Thin dental enamel 35
Thin skin 47
Vaginal malformation 7
Very poor growth 114
Wasting of tongue 4
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.8
Melanoma 711 0.0 0.6
Skin cancer 469 0.0 0.6
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 8.469 4.0
Disease Target Count Z-score Confidence
Kindler syndrome 11 3.535 1.8
Neurotic excoriation 2 3.436 1.7

Expression

  Differential Expression (11)

Disease log2 FC p
Breast cancer -1.200 4.1e-09
cutaneous lupus erythematosus -1.200 2.2e-02
Hydrolethalus syndrome 1.276 3.9e-02
interstitial cystitis 1.600 1.9e-03
intraductal papillary-mucinous carcinoma... 1.100 1.2e-02
malignant mesothelioma 2.300 2.2e-08
non-small cell lung cancer 1.544 1.1e-11
osteosarcoma 1.666 2.3e-07
primary Sjogren syndrome -1.200 2.1e-02
psoriasis -1.100 1.1e-05
ulcerative colitis 1.400 8.8e-03

 CSPA Cell Line (2)

Gene RIF (98)

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 (160)

PMID Year Title