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 998
Abnormal dermatoglyphic pattern 24
Abnormal hair quantity 16
Abnormal platelet function 12
Abnormality of pulmonary valve 23
Abnormality of the spleen 13
Acquired scoliosis 274
Agenesis of corpus callosum 79
Aplasia/Hypoplasia of the abdominal wall musculature 17
Arthrogryposis 52
Atrial Septal Defects 81
Autosomal recessive predisposition 1407
Bipolar I disorder 23
Bleeding tendency 35
Blepharoptosis 229
Blood Coagulation Disorders 41
Brachydactyly 154
Byzanthine arch palate 194
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Coagulation abnormalities 27
Coarse facial features 103
Coarse hair 31
Cognitive delay 596
Colpocephaly 4
Conduction disorder of the heart 79
Congenital clubfoot 108
Congenital deafness 180
Congenital hypoplasia of lung 47
Congenital hypoplasia of penis 168
Congenital pectus carinatum 51
Convex nasal bridge 56
Cryptorchidism 287
Curvature of spine 275
Deafness 193
Decreased projection of midface 104
Deglutition Disorders 128
Delayed bone age 132
Delayed speech and language development 110
Downward slant of palpebral fissure 158
Dull intelligence 634
Dysarthria 190
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enlarged labia minora 1
Enlarged thorax 18
Epilepsy 775
Excess nuchal skin 30
Exophthalmos 110
Feeding difficulties in infancy 174
Fine hair 42
Flexion contracture of hip 9
Full lower lip 61
Global developmental delay 596
Hearing Loss, Partial 180
Hemorrhagic Disorders 29
Hepatomegaly 280
High forehead 101
Hip Dislocation, Congenital 46
Hydronephrosis 87
Hyperplasia of nose 22
Hypertrophy of clitoris 38
Hypertrophy of nose 22
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypoplasia of scrotum 23
Hypoplastic ilia 12
Hypoplastic inferior pubic rami 1
Hypoplastic ischia 11
Hypoplastic mandible condyle 273
Hypotrophic midface 104
Joint hyperflexibility 76
Juvenile arthritis 123
Language Delay 110
Large nose 22
Laryngomalacia 13
Late tooth eruption 59
Long philtrum 137
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Low-set, posteriorly rotated ears 109
Lymphangioma, Cystic 21
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micrognathism 273
Midface retrusion 104
Multicystic Dysplastic Kidney 51
Muscle Weakness 168
Muscle hypotonia 562
Neck webbing 35
Orbital separation excessive 240
Patellar aplasia 8
Pectus excavatum 100
Periventricular neuronal heterotopia 6
Polyhydramnios 106
Poor school performance 634
Progressive mental retardation 37
Prominent eyes 95
Prominent globes 95
Prominent lower lip 61
Prominent nasal bridge 56
Protruding eyes 95
Pulmonary artery stenosis 26
Rough hair texture 31
Seizures 584
Short hands 50
Short phalanx of finger 31
Short stature 514
Small head 366
Small midface 104
Small wings of the pelvic girdle 12
Sparse scalp hair 41
Speech Delay 110
Speech impairment 110
Strabismus 265
Tall forehead 101
Thickened facial skin with coarse facial features 103
Thickened helices 15
Triangular face 57
Ventricular Septal Defects 113
Wide nose 35
Wide spaced nipples 46
hearing impairment 194
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