Property Summary

NCBI Gene PubMed Count 121
PubMed Score 259.09
PubTator Score 280.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Cone dystrophy 71
Night Blindness 101
Myopia 176
Abnormal color vision 31
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the retinal vasculature 59
Achromatopsia 16
Age related macular degeneration 72
Anteverted nostril 191
Atelectasis 8
Atypical scarring of skin 62
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Cataract 297
Chronic sinus disease 9
Chronic sinusitis 9
Ciliary Motility Disorders 38
Color vision defect 33
Color vision defect, severe 31
Conductive hearing loss 123
Cone/cone-rod dystrophy 20
Congenital anomaly of testis 52
Congenital hypoplasia of penis 176
Difficulties with night vision 87
Dull intelligence 645
Dyschromatopsia 8
Electroretinogram abnormal 95
Exotropia 35
Glaucoma 239
Hearing Loss, High-Frequency 4
Hyperinsulinism 133
Hyperopia 70
Hypogonadism 173
Intellectual disability 1016
Kartagener Syndrome 38
Keratoconus 113
Lens Opacities 231
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Nasal bridge wide 236
Night blindness, progressive 51
Nystagmus 317
Nystagmus, continuous pendular 14
Obesity 678
Ophthalmoplegia 106
Optic Atrophy 242
Otitis Media 52
Pendular Nystagmus 14
Photodysphoria 121
Photophobia 121
Poor school performance 645
Recurrent Haemophilus influenzae infections 2
Recurrent bronchitis 23
Recurrent respiratory infections 141
Reduced visual acuity 63
Retinal pigment epithelial abnormality 111
Scarred macula 3
Sensorineural Hearing Loss (disorder) 284
Visual Impairment 174
X- linked recessive 110
hearing impairment 199
Disease Target Count P-value
non-small cell lung cancer 2890 2.0e-19
lung adenocarcinoma 2716 3.6e-17
pituitary cancer 1972 1.5e-08
tuberculosis 2010 4.0e-08
osteosarcoma 7950 4.8e-06
Breast cancer 3578 2.5e-05
psoriasis 6694 5.8e-05
lung cancer 4740 1.9e-04
ependymoma 4679 7.1e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Disease Target Count Z-score Confidence
Primary ciliary dyskinesia 76 0.0 5.0

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer -1.300 2.5e-05
ependymoma 2.400 7.1e-03
lung adenocarcinoma -1.200 3.6e-17
lung cancer -2.200 1.9e-04
non-small cell lung cancer -1.316 2.0e-19
osteosarcoma -2.878 4.8e-06
pituitary cancer -3.000 1.5e-08
psoriasis -2.000 5.8e-05
tuberculosis -1.600 4.0e-08

Gene RIF (81)

AA Sequence

MREPEELMPDSGAVFTFGKSKFAENNPGKFWFKNDVPVHLSCGDEHSAVVTGNNKLYMFGSNNWGQLGLG      1 - 70
SKSAISKPTCVKALKPEKVKLAACGRNHTLVSTEGGNVYATGGNNEGQLGLGDTEERNTFHVISFFTSEH     71 - 140
KIKQLSAGSNTSAALTEDGRLFMWGDNSEGQIGLKNVSNVCVPQQVTIGKPVSWISCGYYHSAFVTTDGE    141 - 210
LYVFGEPENGKLGLPNQLLGNHRTPQLVSEIPEKVIQVACGGEHTVVLTENAVYTFGLGQFGQLGLGTFL    211 - 280
FETSEPKVIENIRDQTISYISCGENHTALITDIGLMYTFGDGRHGKLGLGLENFTNHFIPTLCSNFLRFI    281 - 350
VKLVACGGCHMVVFAAPHRGVAKEIEFDEINDTCLSVATFLPYSSLTSGNVLQRTLSARMRRRERERSPD    351 - 420
SFSMRRTLPPIEGTLGLSACFLPNSVFPRCSERNLQESVLSEQDLMQPEEPDYLLDEMTKEAEIDNSSTV    421 - 490
ESLGETTDILNMTHIMSLNSNEKSLKLSPVQKQKKQQTIGELTQDTALTENDDSDEYEEMSEMKEGKACK    491 - 560
QHVSQGIFMTQPATTIEAFSDEEVGNDTGQVGPQADTDGEGLQKEVYRHENNNGVDQLDAKEIEKESDGG    561 - 630
HSQKESEAEEIDSEKETKLAEIAGMKDLREREKSTKKMSPFFGNLPDRGMNTESEENKDFVKKRESCKQD    631 - 700
VIFDSERESVEKPDSYMEGASESQQGIADGFQQPEAIEFSSGEKEDDEVETDQNIRYGRKLIEQGNEKET    701 - 770
KPIISKSMAKYDFKCDRLSEIPEEKEGAEDSKGNGIEEQEVEANEENVKVHGGRKEKTEILSDDLTDKAE    771 - 840
DHEFSKTEELKLEDVDEEINAENVESKKKTVGDDESVPTGYHSKTEGAERTNDDSSAETIEKKEKANLEE    841 - 910
RAICEYNENPKGYMLDDADSSSLEILENSETTPSKDMKKTKKIFLFKRVPSINQKIVKNNNEPLPEIKSI    911 - 980
GDQIILKSDNKDADQNHMSQNHQNIPPTNTERRSKSCTIL                                  981 - 1020
//

Text Mined References (124)

PMID Year Title