Property Summary

NCBI Gene PubMed Count 46
PubMed Score 28.56
PubTator Score 1610.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Cockayne syndrome 60 6.648 3.3
UV-sensitive syndrome 10 5.966 3.0
Disease Target Count
Abnormal auditory evoked potential 7
Abnormal pigmentation 25
Abnormal visual evoked potential 26
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anhidrosis 23
Atypical scarring of skin 62
Auricular malformation 41
Autosomal recessive predisposition 1442
Basal ganglia calcification 27
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cataract 297
Cerebellar Ataxia 304
Cerebral atrophy 178
Class III malocclusion 78
Cloudy cornea 33
Cockayne Syndrome, Type I 3
Cockayne Syndrome, Type II 3
Cockayne Syndrome, Type III 2
Conduction disorder of the heart 79
Congenital hypoplasia of penis 176
Corneal stromal opacities 33
Cryptorchidism 296
Decreased joint mobility 53
Decreased nerve conduction velocity 35
Decreased size of teeth 62
Decreased subcutaneous adipose tissue 13
Degenerative brain disorder 100
Delayed eruption of primary teeth 10
Dementia 175
Dental caries 164
Dry hair 7
Dry skin 75
Dull intelligence 645
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Epilepsy 792
Fetal Growth Retardation 189
Freckles 33
Gait abnormality 135
Hepatomegaly 285
Hydrocephalus, Normal Pressure 2
Hyperkyphosis 111
Hyperopia 70
Hypertensive disease 292
Hypertrophy of lower jaw 78
Hypogonadism 173
Hypoplastic iliac wing 19
Hypoplastic pelvis 9
Increase in blood pressure 119
Increased cellular sensitivity to UV light 3
Increased size of mandible 78
Increased thickness of cranium 17
Infant, Small for Gestational Age 176
Infantile onset 238
Intellectual disability 1016
Intrauterine retardation 176
Irregular periods 6
Kidney Failure 111
Kyphosis deformity of spine 114
Lacrimation decreased 3
Lens Opacities 231
Loss of facial adipose tissue 4
Low intelligence 645
Malocclusion 57
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Muscle Weakness 170
Nystagmus 317
Optic Atrophy 242
Patchy demyelination of subcortical white matter 2
Peripheral Neuropathy 134
Peripheral dysmyelination 3
Photosensitivity of skin 51
Polyneuropathy 64
Poor school performance 645
Proteinuria 144
Renal Insufficiency 90
Renal failure in adulthood 76
Retinitis Pigmentosa 226
Rotting teeth 73
Salt and pepper retinal pigmentation 8
Sclerotic ivory phalangeal epiphyses 3
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe postnatal growth retardation 16
Simple ear 41
Slender nose 3
Small head 374
Sparse hair 59
Splenomegaly 190
Square pelvis 2
Strabismus 270
Supratentorial atrophy 94
Thickened calvaria 17
Thin, sparse hair 59
Thymic hormone decreased 1
Tooth hypoplasia 7
Tremor 113
Wizened face 9
Xerosis 75
mandibular excess (physical finding) 78
Disease Target Count P-value
primitive neuroectodermal tumor 3035 3.6e-05
osteosarcoma 7950 3.8e-05
pituitary cancer 1972 5.4e-05
group 3 medulloblastoma 4104 1.4e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (4)

Disease log2 FC p
group 3 medulloblastoma 1.400 1.4e-03
osteosarcoma -1.056 3.8e-05
pituitary cancer 1.100 5.4e-05
primitive neuroectodermal tumor 1.100 3.6e-05

 GO Function (1)

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (29)

AA Sequence

MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYMLSGGSDGVIVL      1 - 70
YDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVFNF     71 - 140
EETVYSHHMSPVSTKHCLVAVGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSR    141 - 210
VKLWDVRRASGCLITLDQHNGKKSQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENT    211 - 280
LVNYGKVCNNSKKGLKFTVSCGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELY    281 - 350
SGSRDCNILAWVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG                            351 - 396
//

Text Mined References (49)

PMID Year Title