Property Summary

NCBI Gene PubMed Count 36
PubMed Score 275.65
PubTator Score 117.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Smith-Magenis syndrome 29
Abnormality of cardiovascular system morphology 23
Abnormality of the tracheobronchial system 2
Abnormally-shaped vertebrae 31
Acquired flat foot 72
Acquired scoliosis 281
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Attention deficit hyperactivity disorder 278
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Broad forehead 59
Chronic otitis media 52
Class III malocclusion 78
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Constipation 181
Corneal diameter decreased 47
Corticospinal tract hypoplasia 3
Curvature of little finger 110
Curvature of spine 282
Decreased pain sensation 17
Decreased projection of midface 105
Decreased tendon reflex 122
Delayed eruption of primary teeth 10
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
Electroencephalogram abnormal 101
Enophthalmos 75
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Flatfoot 73
Frontal bossing 157
Gait abnormality 135
Gastroesophageal reflux disease 110
Global developmental delay 608
Heartburn 78
Hoarseness 31
Hyperacusis 11
Hypercholesterolemia 44
Hypertriglyceridemia result 37
Hypertrophy of lower jaw 78
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Increased size of mandible 78
Intellectual disability 1016
Inverted V-shaped upper lip 19
Language Delay 112
Large elongated pulp chamber 14
Large face 7
Low intelligence 645
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Midface retrusion 105
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Obesity 678
Open mouth 45
Orbital separation excessive 244
Poor school performance 645
Reduced fetal movement 51
Self-Injurious Behavior 12
Serum cholesterol raised 22
Short nose 132
Short philtrum 53
Short stature 531
Sleep disturbances 37
Small midface 105
Small nose 132
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Sunken eyes 63
Syndactyly of the toes 45
Synophrys 40
Taurodontism 14
Tented mouth 19
Tented upper lip 19
Upward slant of palpebral fissure 75
Wide skull shape 88
ear infection chronic 52
mandibular excess (physical finding) 78
Disease Target Count P-value
ovarian cancer 8520 5.0e-07
psoriasis 6694 1.7e-04
astrocytoma 1146 6.4e-04
ependymoma 4679 1.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Kidney cancer 2613 0.0 0.5

Expression

  Differential Expression (4)

Disease log2 FC p
astrocytoma 1.100 6.4e-04
ependymoma 1.100 1.2e-02
ovarian cancer 1.400 5.0e-07
psoriasis 1.600 1.7e-04

Gene RIF (18)

AA Sequence

MEATGVLPFVRGVDLSGNDFKGGYFPENVKAMTSLRWLKLNRTGLCYLPEELAALQKLEHLSVSHNNLTT      1 - 70
LHGELSSLPSLRAIVARANSLKNSGVPDDIFKLDDLSVLDLSHNQLTECPRELENAKNMLVLNLSHNSID     71 - 140
TIPNQLFINLTDLLYLDLSENRLESLPPQMRRLVHLQTLVLNGNPLLHAQLRQLPAMTALQTLHLRSTQR    141 - 210
TQSNLPTSLEGLSNLADVDLSCNDLTRVPECLYTLPSLRRLNLSSNQITELSLCIDQWVHVETLNLSRNQ    211 - 280
LTSLPSAICKLSKLKKLYLNSNKLDFDGLPSGIGKLTNLEEFMAANNNLELVPESLCRCPKLRKLVLNKN    281 - 350
HLVTLPEAIHFLTEIEVLDVRENPNLVMPPKPADRAAEWYNIDFSLQNQLRLAGASPATVAAAAAAGSGP    351 - 420
KDPMARKMRLRRRKDSAQDDQAKQVLKGMSDVAQEKNKKQEESADARAPSGKVRRWDQGLEKPRLDYSEF    421 - 490
FTEDVGQLPGLTIWQIENFVPVLVEEAFHGKFYEADCYIVLKTFLDDSGSLNWEIYYWIGGEATLDKKAC    491 - 560
SAIHAVNLRNYLGAECRTVREEMGDESEEFLQVFDNDISYIEGGTASGFYTVEDTHYVTRMYRVYGKKNI    561 - 630
KLEPVPLKGTSLDPRFVFLLDRGLDIYVWRGAQATLSSTTKARLFAEKINKNERKGKAEITLLVQGQELP    631 - 700
EFWEALGGEPSEIKKHVPEDFWPPQPKLYKVGLGLGYLELPQINYKLSVEHKQRPKVELMPRMRLLQSLL    701 - 770
DTRCVYILDCWSDVFIWLGRKSPRLVRAAALKLGQELCGMLHRPRHATVSRSLEGTEAQVFKAKFKNWDD    771 - 840
VLTVDYTRNAEAVLQSPGLSGKVKRDAEKKDQMKADLTALFLPRQPPMSLAEAEQLMEEWNEDLDGMEGF    841 - 910
VLEGKKFARLPEEEFGHFYTQDCYVFLCRYWVPVEYEEEEKKEDKEEKAEGKEGEEATAEAEEKQPEEDF    911 - 980
QCIVYFWQGREASNMGWLTFTFSLQKKFESLFPGKLEVVRMTQQQENPKFLSHFKRKFIIHRGKRKAVQG    981 - 1050
AQQPSLYQIRTNGSALCTRCIQINTDSSLLNSEFCFILKVPFESEDNQGIVYAWVGRASDPDEAKLAEDI   1051 - 1120
LNTMFDTSYSKQVINEGEEPENFFWVGIGAQKPYDDDAEYMKHTRLFRCSNEKGYFAVTEKCSDFCQDDL   1121 - 1190
ADDDIMLLDNGQEVYMWVGTQTSQVEIKLSLKACQVYIQHMRSKEHERPRRLRLVRKGNEQHAFTRCFHA   1191 - 1260
WSAFCKALA                                                                1261 - 1269
//

Text Mined References (50)

PMID Year Title