Property Summary

NCBI Gene PubMed Count 232
PubMed Score 463.03
PubTator Score 867.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Hydrocephalus 148
Intellectual disability 998
Absence of septum pellucidum 13
Adducted thumb 21
Agenesis of corpus callosum 79
Aqueductal Stenosis 5
Big calvaria 147
Bilateral fifth finger clinodactyly 109
Cerebellar Hypoplasia 61
Clenched hands 6
Congenital Hand Deformities 8
Congenital anomaly of face 54
Congenital clubfoot 108
Congenital pes cavus 86
Contracture of joint of thumb 1
Corticospinal tract hypoplasia 3
Curvature of little finger 109
Delayed speech and language development 110
Dilated ventricles (finding) 119
Distortion of face 44
Dull intelligence 634
Dysmorphic facies 44
Epilepsy 775
Flexion contracture of proximal interphalangeal joint 74
Funny looking face 44
Gait abnormality 129
Gait, Shuffling 8
Hemiplegia and hemiparesis 33
Hirschsprung Disease 29
Hyperkyphosis 109
Hyperreflexia 208
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Inferior vermis hypoplasia 2
Intracranial hypertension 30
Kyphosis deformity of spine 112
Language Delay 110
Lordosis 53
Low intelligence 634
MASA SYNDROME (disorder) 1
Megacolon 27
Mental Retardation 634
Mental deficiency 634
Muscle Spasticity 192
Muscle Weakness 168
Partial agenesis of corpus callosum 9
Partial or complete agenesis of corpus callosum 9
Poor school performance 634
Renal Cell Carcinoma 211
Seizures 584
Severe mental retardation (I.Q. 20-34) 97
Short stature 514
Small head 366
Spastic Paraplegia 41
Speech Delay 110
Speech impairment 110
Strabismus 265
X- linked recessive 106
facial deformity 44
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.2
Kidney cancer 2548 0.0 0.7
Disease Target Count Z-score Confidence
Paraplegia 72 5.038 2.5
Cancer 2388 3.046 1.5

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -2.600 2.4e-04
aldosterone-producing adenoma -1.722 8.7e-03
astrocytic glioma -2.100 2.0e-03
Astrocytoma, Pilocytic -3.400 5.8e-06
atypical teratoid / rhabdoid tumor -4.000 3.2e-06
colon cancer -1.600 3.1e-04
ependymoma -3.400 1.6e-04
glioblastoma -3.000 3.9e-07
interstitial cystitis 1.300 8.0e-03
malignant mesothelioma 6.300 4.4e-09
oligodendroglioma -1.200 5.9e-04
osteosarcoma 1.011 5.7e-04
ovarian cancer 1.800 8.4e-04
sonic hedgehog group medulloblastoma -1.400 2.3e-02
subependymal giant cell astrocytoma -3.725 3.7e-02

Protein-protein Interaction (10)

Gene RIF (152)

AA Sequence

MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEASGKPEVQFRWT      1 - 70
RDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKLGTAMSHEIRLMAEGAPKWPK     71 - 140
ETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIKQDERVTMGQNGNLYFANVLTSDNHSDYICH    141 - 210
AHFPGTRTIIQKEPIDLRVKATNSMIDRKPRLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPS    211 - 280
GPMPADRVTYQNHNKTLQLLKVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETA    281 - 350
RLDCQVQGRPQPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY    351 - 420
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANGTLGIRDLQAN    421 - 490
DTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQASFDPSLQPSITWRGDGRDL    491 - 560
QELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVVESRAQLLVVGSPGPVPRLVLSDLHLLTQSQ    561 - 630
VRVSWSPAEDHNAPIEKYDIEFEDKEMAPEKWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEP    631 - 700
SPVSETVVTPEAAPEKNPVDVKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSD    701 - 770
PFLVVSNTSTFVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ    771 - 840
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNGRGSGPASEFT    841 - 910
FSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDEGGKGQLSFNLRDPELRTHNL    911 - 980
TDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDFGNISATAGENYSVVSWVPKEGQCNFRFHIL    981 - 1050
FKALGEEKGGASLSPQYVSYNQSSYTQWDLQPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATE   1051 - 1120
GWFIGFVSAIILLLLVLLILCFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGS   1121 - 1190
SQPSLNGDIKPLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE      1191 - 1257
//

Text Mined References (240)

PMID Year Title