Property Summary

NCBI Gene PubMed Count 29
PubMed Score 152.71
PubTator Score 278.85

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Fraser syndrome 13 4.398 2.2
Disease Target Count
Abnormal cortical gyration 5
Abnormal umbilicus 2
Abnormality of the anus 6
Abnormality of the small intestine 1
Abnormally small eyeball 97
Abnormally small eyeball on both sides 5
Absent auditory canals 23
Absent external auditory canals 23
Absent eyebrow 13
Absent eyelashes 16
Agenesis of eyebrows 13
Ambiguous Genitalia 24
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anophthalmos 13
Anus, Imperforate 46
Aplasia of eyebrows 13
Aplasia of eyelashes 16
Aplasia/Hypoplasia of the sternum 1
Aplastic/hypoplastic phalanges 3
Atresia of the external auditory canal 23
Atresia of vagina 10
Atretic auditory canal 23
Auricular malformation 41
Autosomal recessive predisposition 1442
Bicornuate uterus 11
Bifid tongue 3
Bilateral nanophthalmos 5
Blind Vision 111
Blindness, Legal 110
Broad flat nasal bridge 236
Calvarial defect 10
Capuchin ears 17
Choanal stenosis 11
Cleft Lip 141
Cleft Palate 271
Cleft face 6
Cleft tongue 3
Clouding of corneal stroma 50
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Heart Defects 58
Congenital atresia of larynx 1
Congenital cerebral hernia 21
Congenital heart disease 93
Congenital hypoplasia of kidney 32
Congenital hypoplasia of lung 48
Congenital hypoplasia of penis 176
Congenital hypoplasia of thymus 15
Corneal Opacity 53
Cranial defect 10
Cryptophthalmos 1
Cryptophthalmos syndrome 3
Cryptorchidism 296
Cupped ears (finding) 17
Cutaneous finger syndactyly 11
Decreased size of eyeball 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Difficulty in tongue movements 2
Dull intelligence 645
Failure of development of eyelashes 16
Female Pseudohermaphroditism 5
Hydrocephalus 152
Hypertrophy of clitoris 40
Hypokinesia of the tongue 2
Hypoplasia of scrotum 24
Hypoplastic superior helix 4
Inadequate arch length for tooth size 45
Intellectual disability 1016
Lacrimal duct aplasia 1
Laryngeal web 1
Laryngostenosis 10
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Madarosis of eyebrow 13
Malformed lacrimal ducts 1
Malformed pinnae 37
Malocclusion 57
Meningomyelocele 6
Mental Retardation 645
Mental deficiency 645
Microphthalmia, bilateral 5
Microphthalmos 100
Middle ear malformations 5
Midline nasal groove 1
Multicystic Dysplastic Kidney 52
Nasal bridge wide 236
Notched nasal alae 1
Orbital separation excessive 244
Penile hypospadias 106
Poor school performance 645
Renal hypoplasia/aplasia 7
Schizophrenia 1160
Severe T-cell immunodeficiency 2
Simple ear 41
Skull defect 10
Small head 374
Stricture of anus 13
Subglottic stenosis 2
Syndactyly of fingers 48
Syndactyly of the toes 45
THYMUS ABNORMALITY 3
Thin hypoplastic alae nasi 51
Thumb absent or hypoplastic 9
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Unusual hairline with hair growth on temples extending to lateral eyebrow 1
Upper eyelid coloboma 2
Uranostaphyloschisis 167
Wide nose 35
Wide pubic symphysis 3
Wide spaced nipples 46
Disease Target Count P-value
lung carcinoma 2843 1.2e-15
osteosarcoma 7950 1.8e-04
Astrocytoma, Pilocytic 3081 5.6e-04
glioblastoma 5792 1.4e-03
adult high grade glioma 3801 4.9e-03
ductal carcinoma in situ 1744 4.4e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9

Expression

  Differential Expression (6)

Disease log2 FC p
adult high grade glioma -1.300 4.9e-03
Astrocytoma, Pilocytic -1.200 5.6e-04
ductal carcinoma in situ 1.100 4.4e-02
glioblastoma -1.300 1.4e-03
lung carcinoma 2.600 1.2e-15
osteosarcoma -2.332 1.8e-04

Gene RIF (15)

AA Sequence

MIAVSFKCRCQILRRLTKDESPYTKSASQTKPPDGALAVRRQSIPEEFKGSTVVELMKKEGTTLGLTVSG      1 - 70
GIDKDGKPRVSNLRQGGIAARSDQLDVGDYIKAVNGINLAKFRHDEIISLLKNVGERVVLEVEYELPPVS     71 - 140
VQGSSVIFRTVEVTLHKEGNTFGFVIRGGAHDDRNKSRPVVITCVRPGGPADREGTIKPGDRLLSVDGIR    141 - 210
LLGTTHAEAMSILKQCGQEAALLIEYDVSVMDSVATASGPLLVEVAKTPGASLGVALTTSMCCNKQVIVI    211 - 280
DKIKSASIADRCGALHVGDHILSIDGTSMEYCTLAEATQFLANTTDQVKLEILPHHQTRLALKGPDHVKI    281 - 350
QRSDRQLTWDSWASNHSSLHTNHHYNTYHPDHCRVPALTFPKAPPPNSPPALVSSSFSPTSMSAYSLSSL    351 - 420
NMGTLPRSLYSTSPRGTMMRRRLKKKDFKSSLSLASSTVGLAGQVVHTETTEVVLTADPVTGFGIQLQGS    421 - 490
VFATETLSSPPLISYIEADSPAERCGVLQIGDRVMAINGIPTEDSTFEEASQLLRDSSITSKVTLEIEFD    491 - 560
VAESVIPSSGTFHVKLPKKHNVELGITISSPSSRKPGDPLVISDIKKGSVAHRTGTLELGDKLLAIDNIR    561 - 630
LDNCSMEDAVQILQQCEDLVKLKIRKDEDNSDEQESSGAIIYTVELKRYGGPLGITISGTEEPFDPIIIS    631 - 700
SLTKGGLAERTGAIHIGDRILAINSSSLKGKPLSEAIHLLQMAGETVTLKIKKQTDAQSASSPKKFPISS    701 - 770
HLSDLGDVEEDSSPAQKPGKLSDMYPSTVPSVDSAVDSWDGSAIDTSYGTQGTSFQASGYNFNTYDWRSP    771 - 840
KQRGSLSPVTKPRSQTYPDVGLSYEDWDRSTASGFAGAADSAETEQEENFWSQALEDLETCGQSGILREL    841 - 910
EEKADRRVSLRNMTLLATIMSGSTMSLNHEAPTPRSQLGRQASFQERSSSRPHYSQTTRSNTLPSDVGRK    911 - 980
SVTLRKMKQEIKEIMSPTPVELHKVTLYKDSDMEDFGFSVADGLLEKGVYVKNIRPAGPGDLGGLKPYDR    981 - 1050
LLQVNHVRTRDFDCCLVVPLIAESGNKLDLVISRNPLASQKSIDQQSLPGDWSEQNSAFFQQPSHGGNLE   1051 - 1120
TREPTNTL                                                                 1121 - 1128
//

Text Mined References (31)

PMID Year Title