Property Summary

NCBI Gene PubMed Count 42
PubMed Score 201.01
PubTator Score 73.05

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Intellectual disability 1016
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired scoliosis 281
Agenesis of corpus callosum 83
Aplasia/Hypoplasia of the abdominal wall musculature 17
Arthrogryposis 54
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Bipolar I disorder 23
Bleeding tendency 37
Blepharoptosis 231
Blood Coagulation Disorders 42
Brachydactyly 156
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse facial features 108
Coarse hair 31
Cognitive delay 608
Colpocephaly 4
Conduction disorder of the heart 79
Congenital clubfoot 109
Congenital deafness 185
Congenital hypoplasia of lung 48
Congenital hypoplasia of penis 176
Congenital pectus carinatum 52
Convex nasal bridge 57
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased projection of midface 105
Deglutition Disorders 132
Delayed bone age 136
Delayed speech and language development 112
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysarthria 192
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged labia minora 1
Enlarged thorax 18
Epilepsy 792
Excess nuchal skin 30
Exophthalmos 112
Feeding difficulties in infancy 175
Fine hair 42
Flexion contracture of hip 10
Full lower lip 64
Global developmental delay 608
Hearing Loss, Partial 185
Hemorrhagic Disorders 30
Hepatomegaly 285
High forehead 102
Hip Dislocation, Congenital 48
Hydronephrosis 89
Hyperplasia of nose 23
Hypertrophy of clitoris 40
Hypertrophy of nose 23
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of scrotum 24
Hypoplastic ilia 12
Hypoplastic inferior pubic rami 1
Hypoplastic ischia 11
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Joint hyperflexibility 78
Juvenile arthritis 126
Language Delay 112
Large nose 23
Laryngomalacia 14
Late tooth eruption 61
Long philtrum 137
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Lymphangioma, Cystic 21
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Midface retrusion 105
Multicystic Dysplastic Kidney 52
Muscle Weakness 170
Muscle hypotonia 571
Neck webbing 35
Orbital separation excessive 244
Patellar aplasia 8
Pectus excavatum 100
Periventricular neuronal heterotopia 6
Polyhydramnios 108
Poor school performance 645
Progressive mental retardation 37
Prominent eyes 96
Prominent globes 96
Prominent lower lip 64
Prominent nasal bridge 57
Protruding eyes 96
Pulmonary artery stenosis 22
Rough hair texture 31
Seizures 596
Short hands 50
Short phalanx of finger 32
Short stature 531
Small head 374
Small midface 105
Small wings of the pelvic girdle 12
Sparse scalp hair 42
Speech Delay 112
Speech impairment 112
Strabismus 270
Tall forehead 102
Thickened facial skin with coarse facial features 108
Thickened helices 15
Triangular face 58
Ventricular Septal Defects 119
Wide nose 35
Wide spaced nipples 46
hearing impairment 199
Disease Target Count
Noonan syndrome 34

Expression

  Differential Expression (8)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.100 4.3e-04
glioblastoma 1.100 2.9e-04
group 3 medulloblastoma 1.300 1.2e-02
medulloblastoma, large-cell 1.700 1.7e-06
osteosarcoma -1.565 8.9e-05
ovarian cancer -1.400 2.9e-07
primitive neuroectodermal tumor 1.300 9.5e-05
psoriasis 1.500 3.5e-03

Protein-protein Interaction (2)

Gene RIF (29)

AA Sequence

MVKLANPLYTEWILEAIQKIKKQKQRPSEERICHAVSTSHGLDKKTVSEQLELSVQDGSVLKVTNKGLAS      1 - 70
YKDPDNPGRFSSVKPGTFPKSAKGSRGSCNDLRNVDWNKLLRRAIEGLEEPNGSSLKNIEKYLRSQSDLT     71 - 140
STTNNPAFQQRLRLGAKRAVNNGRLLKDGPQYRVNYGSLDGKGAPQYPSAFPSSLPPVSLLPHEKDQPRA    141 - 210
DPIPICSFCLGTKESNREKKPEELLSCADCGSSGHPSCLKFCPELTTNVKALRWQCIECKTCSACRVQGR    211 - 280
NADNMLFCDSCDRGFHMECCDPPLSRMPKGMWICQVCRPKKKGRKLLHEKAAQIKRRYAKPIGRPKNKLK    281 - 350
QRLLSVTSDEGSMNAFTGRGSPGRGQKTKVCTTPSSGHAASGKDSSSRLAVTDPTRPGATTKITTTSTYI    351 - 420
SASTLKVNKKTKGLIDGLTKFFTPSPDGRRSRGEIIDFSKHYRPRKKVSQKQSCTSHVLATGTTQKLKPP    421 - 490
PSSLPPPTPISGQSPSSQKSSTATSSPSPQSSSSQCSVPSLSSLTTNSQLKALFDGLSHIYTTQGQSRKK    491 - 560
GHPSYAPPKRMRRKTELSSTAKSKAHFFGKRDIRSRFISHSSSSSWGMARGSIFKAIAHFKRTTFLKKHR    561 - 630
MLGRLKYKVTPQMGTPSPGKGSLTDGRIKPDQDDDTEIKINIKQESADVNVIGNKDVVTEEDLDVFKQAQ    631 - 700
ELSWEKIECESGVEDCGRYPSVIEFGKYEIQTWYSSPYPQEYARLPKLYLCEFCLKYMKSKNILLRHSKK    701 - 770
CGWFHPPANEIYRRKDLSVFEVDGNMSKIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTKNDEKGCHLV    771 - 840
GYFSKEKLCQQKYNVSCIMIMPQHQRQGFGRFLIDFSYLLSRREGQAGSPEKPLSDLGRLSYLAYWKSVI    841 - 910
LEYLYHHHERHISIKAISRATGMCPHDIATTLQHLHMIDKRDGRFVIIRREKLILSHMEKLKTCSRANEL    911 - 980
DPDSLRWTPILISNAAVSEEEREAEKEAERLMEQASCWEKEEQEILSTRANSRQSPAKVQSKNKYLHSPE    981 - 1050
SRPVTGERGQLLELSKESSEEEEEEEDEEEEEEEEEEEEDEEEEEEEEEEEEEENIQSSPPRLTKPQSVA   1051 - 1120
IKRKRPFVLKKKRGRKRRRINSSVTTETISETTEVLNEPFDNSDEERPMPQLEPTCEIEVEEDGRKPVLR   1121 - 1190
KAFQHQPGKKRQTEEEEGKDNHCFKNADPCRNNMNDDSSNLKEGSKDNPEPLKCKQVWPKGTKRGLSKWR   1191 - 1260
QNKERKTGFKLNLYTPPETPMEPDEQVTVEEQKETSEGKTSPSPIRIEEEVKETGEALLPQEENRREETC   1261 - 1330
APVSPNTSPGEKPEDDLIKPEEEEEEEEEEEEEEEEEEGEEEEGGGNVEKDPDGAKSQEKEEPEISTEKE   1331 - 1400
DSARLDDHEEEEEEDEEPSHNEDHDADDEDDSHMESAEVEKEELPRESFKEVLENQETFLDLNVQPGHSN   1401 - 1470
PEVLMDCGVDLTASCNSEPKELAGDPEAVPESDEEPPPGEQAQKQDQKNSKEVDTEFKEGNPATMEIDSE   1471 - 1540
TVQAVQSLTQESSEQDDTFQDCAETQEACRSLQNYTRADQSPQIATTLDDCQQSDHSSPVSSVHSHPGQS   1541 - 1610
VRSVNSPSVPALENSYAQISPDQSAISVPSLQNMETSPMMDVPSVSDHSQQVVDSGFSDLGSIESTTENY   1611 - 1680
ENPSSYDSTMGGSICGNGSSQNSCSYSNLTSSSLTQSSCAVTQQMSNISGSCSMLQQTSISSPPTCSVKS   1681 - 1750
PQGCVVERPPSSSQQLAQCSMAANFTPPMQLAEIPETSNANIGLYERMGQSDFGAGHYPQPSATFSLAKL   1751 - 1820
QQLTNTLIDHSLPYSHSAAVTSYANSASLSTPLSNTGLVQLSQSPHSVPGGPQAQATMTPPPNLTPPPMN   1821 - 1890
LPPPLLQRNMAASNIGISHSQRLQTQIASKGHISMRTKSASLSPAAATHQSQIYGRSQTVAMQGPARTLT   1891 - 1960
MQRGMNMSVNLMPAPAYNVNSVNMNMNTLNAMNGYSMSQPMMNSGYHSNHGYMNQTPQYPMQMQMGMMGT   1961 - 2030
QPYAQQPMQTPPHGNMMYTAPGHHGYMNTGMSKQSLNGSYMRR                              2031 - 2073
//

Text Mined References (47)

PMID Year Title