Property Summary

NCBI Gene PubMed Count 16
PubMed Score 4.39
PubTator Score 3.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Umbilical hernia 93
Abnormal helices 11
Abnormality of cranial vault shape 5
Abnormality of cranium shape 5
Abnormality of head shape 5
Abnormality of the skeletal system 11
Actual Aspiration 8
Agenesis of corpus callosum 83
Anus, Imperforate 46
Aortic coarctation 30
Asymmetry of head 5
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Bifid scrotum 16
Bilateral fifth finger clinodactyly 110
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Brachycephalofrontonasal dysplasia 1
Brachydactyly 156
Broad flat nasal bridge 236
Bulging forehead 66
Bushy eyebrows 49
Byzanthine arch palate 194
Cerebellar vermis aplasia or hypoplasia 12
Cerebellar vermis aplasia/ hypoplasia 12
Cerebellar vermis hypoplasia 24
Cerebral atrophy 178
Cleft Lip 141
Cleft Palate 271
Cleft face 6
Cleft uvula 27
Cognitive delay 608
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital anomaly of the kidney 12
Congenital hypoplasia of lung 48
Convex nasal bridge 57
Cranial asymmetry 5
Cryptorchidism 296
Curvature of little finger 110
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diastasis recti 9
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Everted lower lip vermilion 54
Frontal bossing 157
Gallbladder, Agenesis Of 1
Global developmental delay 608
Hernia, Inguinal 89
Hiatal Hernia 7
Hypoplasia of lingual frenulum 1
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Idiopathic pulmonary arterial hypertension 40
Infantile onset 238
Intellectual disability 1016
Isolated cases 72
Kidney Diseases 114
Laryngeal cleft 3
Long philtrum 137
Low intelligence 645
Low set ears 181
MACROSTOMIA, ISOLATED 2
Malformation of cranial vault shape 5
Malformation of cranium shape 5
Malformation of head shape 5
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Muscle hypotonia 571
Nasal bridge wide 236
Opitz-G syndrome, type 2 1
Orbital separation excessive 244
Patent ductus arteriosus 90
Penile hypospadias 106
Persistent cavum septum pellucidum 10
Poor school performance 645
Posteriorly rotated ear 61
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Prominent forehead 66
Prominent nasal bridge 57
Protruding lower lip 54
Pulmonary aspiration 8
Pulmonary hypertension 85
Round face 45
Round, full face 45
Shawl scrotum 9
Short frenulum of tongue 1
Short nose 132
Small nose 132
Smooth philtrum 43
Strabismus 270
Stricture of anus 13
Syndactyly of fingers 48
Telecanthus 62
Thick, flared eyebrows 41
Thin lips 49
Thin upper lip vermilion 67
Tracheoesophageal Fistula 36
Uranostaphyloschisis 167
Ureteral anomalies 5
Ventricular Septal Defects 119
WIDOW'S PEAK 6
Weak cry 17
pulmonary arterial hypertension 75
Disease Target Count P-value
osteosarcoma 7950 1.0e-05
ovarian cancer 8520 1.4e-04
psoriasis 6694 3.0e-04
group 3 medulloblastoma 4104 3.0e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
Liver cancer 604 0.0 0.7
Disease Target Count Z-score Confidence
Opitz-GBBB syndrome 18 5.501 2.8
Disease Target Count Z-score Confidence
Fibrous histiocytoma 7 3.5 1.8
Cutaneous fibrous histiocytoma 17 3.36 1.7

Expression

  Differential Expression (4)

Disease log2 FC p
group 3 medulloblastoma 1.100 3.0e-03
osteosarcoma -1.807 1.0e-05
ovarian cancer 1.500 1.4e-04
psoriasis -1.100 3.0e-04

Gene RIF (6)

AA Sequence

MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTN      1 - 70
GVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPS     71 - 140
AGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMR    141 - 210
AQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQ    211 - 280
RLDNSEKLFGYQSLSPEITPDNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECS    281 - 350
EVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQE    351 - 420
LADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYME    421 - 490
LEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAA    491 - 560
TLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDL    561 - 630
AHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQH    631 - 700
RAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEE    701 - 770
IGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPT    771 - 840
VKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGE    841 - 910
IPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEGASPASLMAMGTTSPQLSLSS    911 - 980
SPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQNIDITNFSSSWNDGLAFCALL    981 - 1050
HTYLPAHIPYQELNSQDKRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET      1051 - 1117
//

Text Mined References (23)

PMID Year Title