Property Summary

NCBI Gene PubMed Count 29
PubMed Score 26.42
PubTator Score 20.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
3C syndrome 2 0.0 0.0
Spastic Paraplegia Type 8 1 0.0 0.0
Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormality of the fontanelles or cranial sutures 2
Abnormality of the mitral valve 3
Abnormality of the tricuspid valve 2
Absence of rib 7
Acquired scoliosis 281
Adrenal hypoplasia 12
Adult onset 82
Anus, Imperforate 46
Aortic valve stenosis 28
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Babinski Reflex 100
Big calvaria 147
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Broad forehead 59
Cerebellar hypoplasia and atrophy 41
Cleft Palate 271
Cognitive delay 608
Concave bridge of nose 195
Congenital hemivertebra 25
Congenital ocular coloboma (disorder) 40
Congenital pes cavus 88
Curvature of spine 282
Dandy-Walker Syndrome 39
Death in early childhood 82
Death in infancy 82
Decreased lower limb vibratory sense 13
Degeneration of the lateral corticospinal tracts 6
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dull intelligence 645
Endocardial Cushion Defects 17
Fetal Growth Retardation 189
Frontal bossing 157
Global developmental delay 608
High forehead 102
High, narrow palate 32
Hydrocephalus 152
Hydronephrosis 89
Hyperkyphosis 111
Hyperreflexia 209
Hypoplastic Left Heart Syndrome 14
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Isolated somatotropin deficiency 30
Kyphosis deformity of spine 114
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Lower limb spasticity 10
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Monoparesis - leg 27
Muscle hypotonia 571
Nasal bridge wide 236
Orbital separation excessive 244
Overactive bladder syndrome 14
Penile hypospadias 106
Poor school performance 645
Posterior fossa cyst 8
Progressive disorder 142
Prominent back of the head 21
Prominent occiput 21
Pulmonary Stenosis 45
Recurrent respiratory infections 141
Short nose 132
Short stature 531
Single umbilical artery 5
Small adrenal gland 12
Small nose 132
Spastic Paraplegia 42
Spastic gait 23
Spastic paraplegia 8, autosomal dominant 1
Speech Disorders 58
Sphincter disturbances 16
Syndactyly 88
Tall forehead 102
Tetralogy of Fallot 67
Uranostaphyloschisis 167
Urgency frequency syndrome 14
Urgency of micturition 14
Urinary Incontinence 50
Ventricular Septal Defects 119
Weakness of lower limb 27
Wide skull shape 88
Disease Target Count P-value
ovarian cancer 8520 5.3e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
hereditary spastic paraplegia 318 0.0 4.0
Disease Target Count Z-score Confidence
Paraplegia 74 5.082 2.5
FTDALS1 4 3.137 1.6

Expression

  Differential Expression (1)

Disease log2 FC p
ovarian cancer 1.200 5.3e-04

Gene RIF (12)

AA Sequence

MLDFLAENNLCGQAILRIVSCGNAIIAELLRLSEFIPAVFRLKDRADQQKYGDIIFDFSYFKGPELWESK      1 - 70
LDAKPELQDLDEEFRENNIEIVTRFYLAFQSVHKYIVDLNRYLDDLNEGVYIQQTLETVLLNEDGKQLLC     71 - 140
EALYLYGVMLLVIDQKIEGEVRERMLVSYYRYSAARSSADSNMDDICKLLRSTGYSSQPGAKRPSNYPES    141 - 210
YFQRVPINESFISMVIGRLRSDDIYNQVSAYPLPEHRSTALANQAAMLYVILYFEPSILHTHQAKMREIV    211 - 280
DKYFPDNWVISIYMGITVNLVDAWEPYKAAKTALNNTLDLSNVREQASRYATVSERVHAQVQQFLKEGYL    281 - 350
REEMVLDNIPKLLNCLRDCNVAIRWLMLHTADSACDPNNKRLRQIKDQILTDSRYNPRILFQLLLDTAQF    351 - 420
EFILKEMFKQMLSEKQTKWEHYKKEGSERMTELADVFSGVKPLTRVEKNENLQAWFREISKQILSLNYDD    421 - 490
STAAGRKTVQLIQALEEVQEFHQLESNLQVCQFLADTRKFLHQMIRTINIKEEVLITMQIVGDLSFAWQL    491 - 560
IDSFTSIMQESIRVNPSMVTKLRATFLKLASALDLPLLRINQANSPDLLSVSQYYSGELVSYVRKVLQII    561 - 630
PESMFTSLLKIIKLQTHDIIEVPTRLDKDKLRDYAQLGPRYEVAKLTHAISIFTEGILMMKTTLVGIIKV    631 - 700
DPKQLLEDGIRKELVKRVAFALHRGLIFNPRAKPSELMPKLKELGATMDGFHRSFEYIQDYVNIYGLKIW    701 - 770
QEEVSRIINYNVEQECNNFLRTKIQDWQSMYQSTHIPIPKFTPVDESVTFIGRLCREILRITDPKMTCHI    771 - 840
DQLNTWYDMKTHQEVTSSRLFSEIQTTLGTFGLNGLDRLLCFMIVKELQNFLSMFQKIILRDRTVQDTLK    841 - 910
TLMNAVSPLKSIVANSNKIYFSAIAKTQKIWTAYLEAIMKVGQMQILRQQIANELNYSCRFDSKHLAAAL    911 - 980
ENLNKALLADIEAHYQDPSLPYPKEDNTLLYEITAYLEAAGIHNPLNKIYITTKRLPYFPIVNFLFLIAQ    981 - 1050
LPKLQYNKNLGMVCRKPTDPVDWPPLVLGLLTLLKQFHSRYTEQFLALIGQFICSTVEQCTSQKIPEIPA   1051 - 1120
DVVGALLFLEDYVRYTKLPRRVAEAHVPNFIFDEFRTVL                                  1121 - 1159
//

Text Mined References (34)

PMID Year Title