Property Summary

NCBI Gene PubMed Count 130
PubMed Score 1388.81
PubTator Score 227.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Holoprosencephaly 56
1-5 toe syndactyly 1
Abnormal lung lobation 10
Abnormality of earlobe 5
Abnormally small eyeball 97
Absent auditory canals 23
Absent external auditory canals 23
Adrenal hypoplasia 12
Advanced bone age 35
Anteverted nostril 191
Anus, Imperforate 46
Atresia of the external auditory canal 23
Atretic auditory canal 23
Bifid epiglottis 2
Big calvaria 147
Broad flat nasal bridge 236
Broad hallux phalanx 8
Broad thumbs 28
Cleft Lip 141
Concave bridge of nose 195
Congenital hemivertebra 25
Congenital hypoplasia of epiglottis 4
Congenital hypoplasia of kidney 32
Congenital hypoplasia of penis 176
Congenital small ears 48
Cryptorchidism 296
Cystic kidney 30
Dandy-Walker Syndrome 39
Decreased size of eyeball 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Distal shortening of limbs 3
Distal urethral duplication 1
Dysplastic distal thumb phalanges with a central hole 1
Ectopic kidney 11
Epilepsy 792
Esophageal atresia 43
Fetal Growth Retardation 189
Fibular polydactyly 12
Frontal bossing 157
High forehead 102
Highly variable severity 157
Hypopigmentation disorder 25
Hypoplasia or absence of the corpus callosum 23
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated somatotropin deficiency 30
Laryngeal cleft 3
Long narrow head 75
Low to undetectable plasma cortisol 12
Mesoaxial foot polydactyly 1
Mesoaxial hand polydactyly 4
Microglossia 10
Microphthalmos 100
Midline facial capillary hemangioma 2
Nail dysplasia 52
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Natal Teeth 9
Neonatal Death 14
Oligodactyly 6
Orbital separation excessive 244
Panhypopituitarism 14
Patent ductus arteriosus 90
Postaxial foot polydactyly 12
Postaxial polydactyly type A 1
Posteriorly rotated ear 61
Preaxial Hallucal Polydactyly 3
Preaxial foot polydactyly 3
Precocious Puberty 28
Preductal coarctation of aorta 1
Prominent back of the head 21
Prominent occiput 21
RENAL ADYSPLASIA 25
Radial polydactyly 8
Renal cyst 30
Renal dysplasia 28
Rib fusion 16
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short 4th metacarpal 7
Short nose 132
Short stature 531
Sloping forehead 46
Small adrenal gland 12
Small nose 132
Small testicle 75
Small tongue 10
Syndactyly of fingers 48
Syndactyly of the toes 45
Syndactyly, 3rd-4th finger 3
Tall forehead 102
Telecanthus 62
Thyroid Dysgenesis 1
Tracheoesophageal Fistula 36
Triangular head shape 10
Trigonocephaly 10
Triphalangeal thumb 9
Turridolichocephaly 75
Ulnar polydactyly of fingers 47
Variable expressivity 157
Ventricular Septal Defects 119
Wedge shaped head 10
Y-shaped metacarpals 2
Disease Target Count Z-score Confidence
Allergic rhinitis 95 0.0 1.4
Macular degeneration 65 0.0 0.7

Expression

  Differential Expression (13)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 2.5e-02
Breast cancer -1.100 6.5e-05
ependymoma 1.200 1.9e-05
glioblastoma 1.500 1.5e-03
group 3 medulloblastoma -1.100 3.4e-03
intraductal papillary-mucinous adenoma (... -1.700 4.6e-03
intraductal papillary-mucinous carcinoma... -1.700 5.2e-03
lung carcinoma -1.800 2.4e-21
non primary Sjogren syndrome sicca 1.300 1.8e-02
osteosarcoma 1.500 5.7e-03
ovarian cancer -1.100 1.6e-08
pediatric high grade glioma 1.100 2.1e-03
psoriasis 1.100 1.8e-03

Protein-protein Interaction (2)

Gene RIF (81)

AA Sequence

MEAQSHSSTTTEKKKVENSIVKCSTRTDVSEKAVASSTTSNEDESPGQTYHRERRNAITMQPQNVQGLSK      1 - 70
VSEEPSTSSDERASLIKKEIHGSLPHVAEPSVPYRGTVFAMDPRNGYMEPHYHPPHLFPAFHPPVPIDAR     71 - 140
HHEGRYHYDPSPIPPLHMTSALSSSPTYPDLPFIRISPHRNPTAASESPFSPPHPYINPYMDYIRSLHSS    141 - 210
PSLSMISATRGLSPTDAPHAGVSPAEYYHQMALLTGQRSPYADIIPSAATAGTGAIHMEYLHAMDSTRFS    211 - 280
SPRLSARPSRKRTLSISPLSDHSFDLQTMIRTSPNSLVTILNNSRSSSSASGSYGHLSASAISPALSFTY    281 - 350
SSAPVSLHMHQQILSRQQSLGSAFGHSPPLIHPAPTFPTQRPIPGIPTVLNPVQVSSGPSESSQNKPTSE    351 - 420
SAVSSTGDPMHNKRSKIKPDEDLPSPGARGQQEQPEGTTLVKEEGDKDESKQEPEVIYETNCHWEGCARE    421 - 490
FDTQEQLVHHINNDHIHGEKKEFVCRWLDCSREQKPFKAQYMLVVHMRRHTGEKPHKCTFEGCTKAYSRL    491 - 560
ENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSNEKPYVCKIPGCTKRYTDPSSLRKHVKT    561 - 630
VHGPEAHVTKKQRGDIHPRPPPPRDSGSHSQSRSPGRPTQGALGEQQDLSNTTSKREECLQVKTVKAEKP    631 - 700
MTSQPSPGGQSSCSSQQSPISNYSNSGLELPLTDGGSIGDLSAIDETPIMDSTISTATTALALQARRNPA    701 - 770
GTKWMEHVKLERLKQVNGMFPRLNPILPPKAPAVSPLIGNGTQSNNTCSLGGPMTLLPGRSDLSGVDVTM    771 - 840
LNMLNRRDSSASTISSAYLSSRRSSGISPCFSSRRSSEASQAEGRPQNVSVADSYDPISTDASRRSSEAS    841 - 910
QSDGLPSLLSLTPAQQYRLKAKYAAATGGPPPTPLPNMERMSLKTRLALLGDALEPGVALPPVHAPRRCS    911 - 980
DGGAHGYGRRHLQPHDAPGHGVRRASDPVRTGSEGLALPRVPRFSSLSSCNPPAMATSAEKRSLVLQNYT    981 - 1050
RPEGGQSRNFHSSPCPPSITENVTLESLTMDADANLNDEDFLPDDVVQYLNSQNQAGYEQHFPSALPDDS   1051 - 1120
KVPHGPGDFDAPGLPDSHAGQQFHALEQPCPEGSKTDLPIQWNEVSSGSADLSSSKLKCGPRPAVPQTRA   1121 - 1190
FGFCNGMVVHPQNPLRSGPAGGYQTLGENSNPYGGPEHLMLHNSPGSGTSGNAFHEQPCKAPQYGNCLNR   1191 - 1260
QPVAPGALDGACGAGIQASKLKSTPMQGSGGQLNFGLPVAPNESAGSMVNGMQNQDPVGQGYLAHQLLGD   1261 - 1330
SMQHPGAGRPGQQMLGQISATSHINIYQGPESCLPGAHGMGSQPSSLAVVRGYQPCASFGGSRRQAMPRD   1331 - 1400
SLALQSGQLSDTSQTCRVNGIKMEMKGQPHPLCSNLQNYSGQFYDQTVGFSQQDTKAGSFSISDASCLLQ   1401 - 1470
GTSAKNSELLSPGANQVTSTVDSLDSHDLEGVQIDFDAIIDDGDHSSLMSGALSPSIIQNLSHSSSRLTT   1471 - 1540
PRASLPFPALSMSTTNMAIGDMSSLLTSLAEESKFLAVMQ                                 1541 - 1580
//

Text Mined References (136)

PMID Year Title