Property Summary

NCBI Gene PubMed Count 31
PubMed Score 18.13
PubTator Score 18.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal cortical bone morphology 22
Abnormal cortical gyration 5
Absent earlobe 9
Agenesis of corpus callosum 83
Agenesis of teeth 21
Aggressive behavior 75
Aggressive reaction 75
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Cachexia 50
Cognitive delay 608
Cone-shaped epiphyses 24
Convex nasal bridge 57
Convex nasal ridge 37
Cortical gyral simplification 19
Craniosynostosis 74
Curvature of little finger 110
Defective tooth enamel 31
Delayed bone age 136
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophic tooth enamel 31
Ectopic Tissue 14
Enamel abnormalities 31
Fetal Growth Retardation 189
Frontal lobe hypoplasia 9
Glaucoma 239
Global developmental delay 608
Hip Dislocation, Congenital 48
Hyperreflexia 209
Hypoplastic mandible condyle 275
Impaired cognition 96
Impulsive Behavior 9
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint hyperflexibility 78
Large beaked nose 5
Low intelligence 645
MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE 2
MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 16
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Micrognathism 275
Mild global developmental delay 14
Mirror movements disorder 8
Narrow face 54
Pachygyria 41
Physical aggression 76
Poor school performance 645
Precociously senile appearance 18
Prominent nasal bridge 57
Psychomotor retardation, mild 14
Reduced number of teeth 21
Retrognathia 54
Sandal gap 24
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Skull malformation 38
Sloping forehead 46
Small head 374
Sparse scalp hair 42
Thin face 54
Thin upper lip vermilion 67
Unilateral agenesis of kidney 20
Upward slant of palpebral fissure 75
Vesico-Ureteral Reflux 33
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 2.7
Disease Target Count Z-score Confidence
Microcephaly 166 4.957 2.5

Expression

  Differential Expression (16)

 GO Function (1)

Gene RIF (12)

AA Sequence

MSLDFGSVALPVQNEDEEYDEEDYEREKELQQLLTDLPHDMLDDDLSSPELQYSDCSEDGTDGQPHHPEQ      1 - 70
LEMSWNEQMLPKSQSVNGYNEIQSLYAGEKCGNVWEENRSKTEDRHPVYHPEEGGDEGGSGYSPPSKCEQ     71 - 140
TDLYHLPENFRPYTNGQKQEFNNQATNVIKFSDPQWNHFQGPSCQGLEPYNKVTYKPYQSSAQNNGSPAQ    141 - 210
EITGSDTFEGLQQQFLGANENSAENMQIIQLQVLNKAKERQLENLIEKLNESERQIRYLNHQLVIIKDEK    211 - 280
DGLTLSLRESQKLFQNGKEREIQLEAQIKALETQIQALKVNEEQMIKKSRTTEMALESLKQQLVDLHHSE    281 - 350
SLQRAREQHESIVMGLTKKYEEQVLSLQKNLDATVTALKEQEDICSRLKDHVKQLERNQEAIKLEKTEII    351 - 420
NKLTRSLEESQKQCAHLLQSGSVQEVAQLQFQLQQAQKAHAMSANMNKALQEELTELKDEISLYESAAKL    421 - 490
GIHPSDSEGELNIELTESYVDLGIKKVNWKKSKVTSIVQEEDPNEELSKDEFILKLKAEVQRLLGSNSMK    491 - 560
RHLVSQLQNDLKDCHKKIEDLHQVKKDEKSIEVETKTDTSEKPKNQLWPESSTSDVVRDDILLLKNEIQV    561 - 630
LQQQNQELKETEGKLRNTNQDLCNQMRQMVQDFDHDKQEAVDRCERTYQQHHEAMKTQIRESLLAKHALE    631 - 700
KQQLFEAYERTHLQLRSELDKLNKEVTAVQECYLEVCREKDNLELTLRKTTEKEQQTQEKIKEKLIQQLE    701 - 770
KEWQSKLDQTIKAMKKKTLDCGSQTDQVTTSDVISKKEMAIMIEEQKCTIQQNLEQEKDIAIKGAMKKLE    771 - 840
IELELKHCENITKQVEIAVQNAHQRWLGELPELAEYQALVKAEQKKWEEQHEVSVNKRISFAVSEAKEKW    841 - 910
KSELENMRKNILPGKELEEKIHSLQKELELKNEEVPVVIRAELAKARSEWNKEKQEEIHRIQEQNEQDYR    911 - 980
QFLDDHRNKINEVLAAAKEDFMKQKTELLLQKETELQTCLDQSRREWTMQEAKRIQLEIYQYEEDILTVL    981 - 1050
GVLLSDTQKEHISDSEDKQLLEIMSTCSSKWMSVQYFEKLKGCIQKAFQDTLPLLVENADPEWKKRNMAE   1051 - 1120
LSKDSASQGTGQGDPGPAAGHHAQPLALQATEAEADKKKVLEIKDLCCGHCFQELEKAKQECQDLKGKLE   1121 - 1190
KCCRHLQHLERKHKAVVEKIGEENNKVVEELIEENNDMKNKLEELQTLCKTPPRSLSAGAIENACLPCSG   1191 - 1260
GALEELRGQYIKAVKKIKCDMLRYIQESKERAAEMVKAEVLRERQETARKMRKYYLICLQQILQDDGKEG   1261 - 1330
AEKKIMNAASKLATMAKLLETPISSKSQSKTTQSALPLTSEMLIAVKKSKRNDVNQKIPCCIESKSNSVN   1331 - 1400
TITRTLCEQAPKRRAACNLQRLLENSEHQSIKHVGSKETHLEFQFGDGSCKHLNSLPRNVSPEFVPCEGE   1401 - 1470
GGFGLHKKKDLLSDNGSESLPHSAAYPFLGTLGNKPSPRCTPGPSESGCMHITFRDSNERLGLKVYKCNP   1471 - 1540
LMESENAASEKSQGLDVQEPPVKDGGDLSDCLGWPSSSATLSFDSREASFVHGRPQGTLEIPSESVKSKQ   1541 - 1610
FSPSGYLSDTEESNMICQTMKCQRYQTPYLSEETTYLEPGKISVNCGHPSRHKADRLKSDFKKLSSTLPS   1611 - 1680
SVCQQPSRKLIVPLSSQQDSGFDSPFVNLD                                           1681 - 1710
//

Text Mined References (35)

PMID Year Title