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 15
Abnormality of the fontanelles or cranial sutures 2
Abnormality of the mitral valve 3
Abnormality of the tricuspid valve 2
Absence of rib 6
Acquired scoliosis 274
Adrenal hypoplasia 12
Adult onset 81
Anus, Imperforate 43
Aortic valve stenosis 27
Atrial Septal Defects 81
Autosomal recessive predisposition 1407
Babinski Reflex 98
Big calvaria 147
Brachycephaly 86
Broad cranium shape 86
Broad flat nasal bridge 232
Broad forehead 58
Cerebellar hypoplasia and atrophy 39
Cleft Palate 265
Cognitive delay 596
Concave bridge of nose 191
Congenital hemivertebra 23
Congenital ocular coloboma (disorder) 37
Congenital pes cavus 86
Curvature of spine 275
Dandy-Walker Syndrome 35
Death in early childhood 82
Death in infancy 82
Decreased lower limb vibratory sense 12
Degeneration of the lateral corticospinal tracts 5
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dull intelligence 634
Endocardial Cushion Defects 15
Fetal Growth Retardation 186
Frontal bossing 154
Global developmental delay 596
High forehead 101
High, narrow palate 32
Hydrocephalus 148
Hydronephrosis 87
Hyperkyphosis 109
Hyperreflexia 208
Hypoplastic Left Heart Syndrome 14
Hypoplastic mandible condyle 273
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Isolated somatotropin deficiency 28
Kyphosis deformity of spine 112
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Lower limb spasticity 9
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micrognathism 273
Monoparesis - leg 26
Muscle hypotonia 562
Nasal bridge wide 232
Orbital separation excessive 240
Overactive bladder syndrome 13
Penile hypospadias 102
Poor school performance 634
Posterior fossa cyst 8
Progressive disorder 139
Prominent back of the head 21
Prominent occiput 21
Pulmonary Stenosis 44
Recurrent respiratory infections 138
Short nose 127
Short stature 514
Single umbilical artery 5
Small adrenal gland 12
Small nose 127
Spastic Paraplegia 41
Spastic gait 22
Spastic paraplegia 8, autosomal dominant 1
Speech Disorders 56
Sphincter disturbances 15
Syndactyly 88
Tall forehead 101
Tetralogy of Fallot 66
Uranostaphyloschisis 162
Urgency frequency syndrome 13
Urgency of micturition 13
Urinary Incontinence 49
Ventricular Septal Defects 113
Weakness of lower limb 26
Wide skull shape 86
Disease Target Count P-value
ovarian cancer 8297 5.3e-04
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.8
Disease Target Count Z-score Confidence
Neurodegenerative disease 402 0.0 4.0
hereditary spastic paraplegia 313 0.0 4.0
Disease Target Count Z-score Confidence
Paraplegia 72 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