Property Summary

NCBI Gene PubMed Count 43
PubMed Score 58.11
PubTator Score 83.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of cardiovascular system morphology 23
Abnormality of chromosome segregation 3
Abnormality of the immune system 18
Abnormality of the larynx 6
Abnormality of the tracheobronchial system 2
Abnormally-shaped vertebrae 31
Absent reflex 92
Absent tendon reflex 92
Acquired flat foot 72
Acquired scoliosis 281
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Apraxia of Phonation 5
Apraxia, Verbal 5
Attention deficit hyperactivity disorder 278
Autism Spectrum Disorders 75
Autistic Disorder 364
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad face 7
Broad flat nasal bridge 236
Broad forehead 59
Chromosome 17, trisomy 17p11 2 1
Chronic otitis media 52
Class III malocclusion 78
Cognitive delay 608
Communication delay 2
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Heart Defects 58
Congenital anomaly of the kidney 12
Congenital deafness 185
Congenital ear anomaly NOS (disorder) 29
Congenital heart disease 93
Constipation 181
Corneal diameter decreased 47
Corticospinal tract hypoplasia 3
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased pain sensation 17
Decreased projection of midface 105
Decreased tendon reflex 122
Deficit in expressive language 2
Delayed eruption of primary teeth 10
Delayed speech and language development 112
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Drooping upper lip 4
Dull intelligence 645
Dysarthria 192
Dyschezia 135
Dysphasia 23
Echolalia 12
Electroencephalogram abnormal 101
Enophthalmos 75
Epilepsy 792
Everted upper lip vermilion 4
Expressive language delay 2
Failure to gain weight 365
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Flatfoot 73
Frontal bossing 157
Gait abnormality 135
Gastroesophageal reflux disease 110
Generalized hypotonia 37
Global developmental delay 608
Head Banging 1
Hearing Loss, Partial 185
Heartburn 78
High-grade hypermetropia 24
Hoarseness 31
Hyperactive behavior 91
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 malar bone 129
Hypotrophic midface 105
Increased size of mandible 78
Inverted V-shaped upper lip 19
Isolated cases 72
Language Delay 112
Large elongated pulp chamber 14
Large face 7
Low intelligence 645
Malar flattening 129
Malformed pinnae 37
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Middle ear malformations 5
Midface retrusion 105
Mild Mental Retardation 70
Muscle hypotonia 571
Myopia 176
Nasal bridge wide 236
Open mouth 45
Orbital separation excessive 244
Oropharyngeal Dysphagia 1
Pediatric failure to thrive 365
Poor fine motor coordination 4
Poor school performance 645
Protruding upper lip 4
Reduced fetal movement 51
Reflex, Deep Tendon, Absent 92
Repeated speech 9
Schizophrenia 1160
Seizures 596
Self Mutilation 14
Self-Injurious Behavior 12
Serum cholesterol raised 22
Short hands 50
Short nose 132
Short philtrum 53
Short stature 531
Sleep Apnea Syndromes 13
Sleep disturbances 37
Small midface 105
Small nose 132
Spade-like hand 16
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
Thyroid Diseases 24
Tooth Abnormalities 69
Triangular face 58
Upward slant of palpebral fissure 75
Velopharyngeal Insufficiency 8
Velopharyngeal dysfunction 8
Wide skull shape 88
ear infection chronic 52
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Potocki-Luspski syndrome 5 0.0 5.0

Expression

  Differential Expression (5)

Disease log2 FC p
interstitial cystitis -1.100 1.1e-04
osteosarcoma 1.638 2.5e-03
ovarian cancer -1.100 2.5e-04
pancreatic cancer 1.200 7.6e-03
primary pancreatic ductal adenocarcinoma 1.176 4.8e-03

Gene RIF (27)

AA Sequence

MQSFRERCGFHGKQQNYQQTSQETSRLENYRQPSQAGLSCDRQRLLAKDYYNPQPYPSYEGGAGTPSGTA      1 - 70
AAVAADKYHRGSKALPTQQGLQGRPAFPGYGVQDSSPYPGRYAGEESLQAWGAPQPPPPQPQPLPAGVAK     71 - 140
YDENLMKKTAVPPSRQYAEQGAQVPFRTHSLHVQQPPPPQQPLAYPKLQRQKLQNDIASPLPFPQGTHFP    141 - 210
QHSQSFPTSSTYSSSVQGGGQGAHSYKSCTAPTAQPHDRPLTASSSLAPGQRVQNLHAYQSGRLSYDQQQ    211 - 280
QQQQQQQQQQQALQSRHHAQETLHYQNLAKYQHYGQQGQGYCQPDAAVRTPEQYYQTFSPSSSHSPARSV    281 - 350
GRSPSYSSTPSPLMPNLENFPYSQQPLSTGAFPAGITDHSHFMPLLNPSPTDATSSVDTQAGNCKPLQKD    351 - 420
KLPENLLSDLSLQSLTALTSQVENISNTVQQLLLSKAAVPQKKGVKNLVSRTPEQHKSQHCSPEGSGYSA    421 - 490
EPAGTPLSEPPSSTPQSTHAEPQEADYLSGSEDPLERSFLYCNQARGSPARVNSNSKAKPESVSTCSVTS    491 - 560
PDDMSTKSDDSFQSLHGSLPLDSFSKFVAGERDCPRLLLSALAQEDLASEILGLQEAIGEKADKAWAEAP    561 - 630
SLVKDSSKPPFSLENHSACLDSVAKSAWPRPGEPEALPDSLQLDKGGNAKDFSPGLFEDPSVAFATPDPK    631 - 700
KTTGPLSFGTKPTLGVPAPDPTTAAFDCFPDTTAASSADSANPFAWPEENLGDACPRWGLHPGELTKGLE    701 - 770
QGGKASDGISKGDTHEASACLGFQEEDPPGEKVASLPGDFKQEEVGGVKEEAGGLLQCPEVAKADRWLED    771 - 840
SRHCCSTADFGDLPLLPPTSRKEDLEAEEEYSSLCELLGSPEQRPGMQDPLSPKAPLICTKEEVEEVLDS    841 - 910
KAGWGSPCHLSGESVILLGPTVGTESKVQSWFESSLSHMKPGEEGPDGERAPGDSTTSDASLAQKPNKPA    911 - 980
VPEAPIAKKEPVPRGKSLRSRRVHRGLPEAEDSPCRAPVLPKDLLLPESCTGPPQGQMEGAGAPGRGASE    981 - 1050
GLPRMCTRSLTALSEPRTPGPPGLTTTPAPPDKLGGKQRAAFKSGKRVGKPSPKAASSPSNPAALPVASD   1051 - 1120
SSPMGSKTKETDSPSTPGKDQRSMILRSRTKTQEIFHSKRRRPSEGRLPNCRATKKLLDNSHLPATFKVS   1121 - 1190
SSPQKEGRVSQRARVPKPGAGSKLSDRPLHALKRKSAFMAPVPTKKRNLVLRSRSSSSSNASGNGGDGKE   1191 - 1260
ERPEGSPTLFKRMSSPKKAKPTKGNGEPATKLPPPETPDACLKLASRAAFQGAMKTKVLPPRKGRGLKLE   1261 - 1330
AIVQKITSPSLKKFACKAPGASPGNPLSPSLSDKDRGLKGAGGSPVGVEEGLVNVGTGQKLPTSGADPLC   1331 - 1400
RNPTNRSLKGKLMNSKKLSSTDCFKTEAFTSPEALQPGGTALAPKKRSRKGRAGAHGLSKGPLEKRPYLG   1401 - 1470
PALLLTPRDRASGTQGASEDNSGGGGKKPKMEELGLASQPPEGRPCQPQTRAQKQPGHTNYSSYSKRKRL   1471 - 1540
TRGRAKNTTSSPCKGRAKRRRQQQVLPLDPAEPEIRLKYISSCKRLRSDSRTPAFSPFVRVEKRDAFTTI   1541 - 1610
CTVVNSPGDAPKPHRKPSSSASSSSSSSSFSLDAAGASLATLPGGSILQPRPSLPLSSTMHLGPVVSKAL   1611 - 1680
STSCLVCCLCQNPANFKDLGDLCGPYYPEHCLPKKKPKLKEKVRPEGTCEEASLPLERTLKGPECAAAAT   1681 - 1750
AGKPPRPDGPADPAKQGPLRTSARGLSRRLQSCYCCDGREDGGEEAAPADKGRKHECSKEAPAEPGGEAQ   1751 - 1820
EHWVHEACAVWTGGVYLVAGKLFGLQEAMKVAVDMMCSSCQEAGATIGCCHKGCLHTYHYPCASDAGCIF   1821 - 1890
IEENFSLKCPKHKRLP                                                         1891 - 1906
//

Text Mined References (51)

PMID Year Title