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 152
Intellectual disability 1016
Absence of septum pellucidum 13
Adducted thumb 22
Agenesis of corpus callosum 83
Aqueductal Stenosis 5
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Cerebellar Hypoplasia 61
Clenched hands 6
Congenital Hand Deformities 8
Congenital anomaly of face 56
Congenital clubfoot 109
Congenital pes cavus 88
Contracture of joint of thumb 1
Corticospinal tract hypoplasia 3
Curvature of little finger 110
Delayed speech and language development 112
Dilated ventricles (finding) 121
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Epilepsy 792
Flexion contracture of proximal interphalangeal joint 75
Funny looking face 46
Gait abnormality 135
Gait, Shuffling 8
Hemiplegia and hemiparesis 38
Hirschsprung Disease 31
Hyperkyphosis 111
Hyperreflexia 209
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Inferior vermis hypoplasia 2
Intracranial hypertension 32
Kyphosis deformity of spine 114
Language Delay 112
Lordosis 54
Low intelligence 645
MASA SYNDROME (disorder) 1
Megacolon 29
Mental Retardation 645
Mental deficiency 645
Muscle Spasticity 195
Muscle Weakness 170
Partial agenesis of corpus callosum 9
Partial or complete agenesis of corpus callosum 9
Poor school performance 645
Renal Cell Carcinoma 214
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Small head 374
Spastic Paraplegia 42
Speech Delay 112
Speech impairment 112
Strabismus 270
X- linked recessive 110
facial deformity 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Paraplegia 74 5.038 2.5
Cancer 2499 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