Property Summary

Ligand Count 1
NCBI Gene PubMed Count 133
PubMed Score 355.02
PubTator Score 2335.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Hypopituitarism 40
Abnormal cortical gyration 5
Abnormal prolactin level 7
Abnormality of secondary sexual hair 6
Abnormally small eyeball 97
Absence of incisors 1
Acute Promyelocytic Leukemia 40
Agenesis of incisor 1
Alcoholic Intoxication, Chronic 289
Alobar Holoprosencephaly 14
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anophthalmos 13
Anterior pituitary agenesis 6
Anterior pituitary hypoplasia 13
Aplasia/Hypoplasia of the breasts 10
Basal cell carcinoma 54
Cleft palate and bilateral cleft lip 4
Cognitive delay 608
Concave bridge of nose 195
Congenital hypoplasia of penis 176
Cryptorchidism 296
Decreased circulating ACTH level 12
Decreased projection of maxilla 66
Decreased projection of midface 105
Decreased size of eyeball 97
Deficiency of upper jaw bones 66
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Ectopic posterior pituitary 6
Epilepsy 792
Fatigue 182
Generalized osteopenia 99
Global developmental delay 608
Highly variable severity 157
Hydrocephalus 152
Hypoglycemia 152
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of the maxilla 66
Hypoplasia of the optic nerve 17
Hypoplasia of the premaxilla 2
Hypoplastic palate 4
Hypoplastic tragus 2
Hypotension 82
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Infertility 188
Isolated cases 72
Isolated somatotropin deficiency 30
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lobar Holoprosencephaly 20
Macrotia 87
Malar flattening 129
Malocclusion 57
Maxillary retrognathia 66
Mental and motor retardation 608
Microphthalmos 100
Midface retrusion 105
Missing incisors 1
Orbital separation diminished 23
Osteopenia 99
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 1
Panhypopituitarism 14
Partial agenesis of corpus callosum 9
Partial or complete agenesis of corpus callosum 9
Pituitary Hormone Deficiency, Combined, 1 6
Pituitary hypoplasia 23
Pituitary stalk interruption syndrome 7
Premaxillary retrusion 2
Prominent antihelix 5
Retrusion of upper jaw bones 66
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 5
Secondary hypothyroidism 15
Seizures 596
Semilobar Holoprosencephaly 14
Short hard palate 4
Short palate 4
Short philtrum 53
Short stature 531
Single naris 2
Small head 374
Small midface 105
Small testicle 75
Ulnar polydactyly of fingers 47
Variable expressivity 157
menstrual periods stopped for over 6 months 13
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1

Expression

  Differential Expression (13)

Disease log2 FC p
adult high grade glioma 1.100 1.9e-03
Atopic dermatitis -1.100 1.3e-03
atypical teratoid / rhabdoid tumor 2.000 1.5e-02
ependymoma 1.100 2.9e-02
glioblastoma 2.000 2.2e-03
interstitial lung disease 1.300 3.1e-03
medulloblastoma 1.800 2.3e-02
medulloblastoma, large-cell 1.300 1.0e-02
osteosarcoma 2.912 1.7e-05
pancreatic cancer 1.100 7.8e-03
primary pancreatic ductal adenocarcinoma 1.258 1.2e-03
primitive neuroectodermal tumor 2.500 7.6e-03
psoriasis -1.600 2.8e-73

Protein-protein Interaction (2)

Gene RIF (112)

AA Sequence

METSASATASEKQEAKSGILEAAGFPDPGKKASPLVVAAAAAAAVAAQGVPQHLLPPFHAPLPIDMRHQE      1 - 70
GRYHYEPHSVHGVHGPPALSGSPVISDISLIRLSPHPAGPGESPFNAPHPYVNPHMEHYLRSVHSSPTLS     71 - 140
MISAARGLSPADVAQEHLKERGLFGLPAPGTTPSDYYHQMTLVAGHPAPYGDLLMQSGGAASAPHLHDYL    141 - 210
NPVDVSRFSSPRVTPRLSRKRALSISPLSDASLDLQRMIRTSPNSLVAYINNSRSSSAASGSYGHLSAGA    211 - 280
LSPAFTFPHPINPVAYQQILSQQRGLGSAFGHTPPLIQPSPTFLAQQPMALTSINATPTQLSSSSNCLSD    281 - 350
TNQNKQSSESAVSSTVNPVAIHKRSKVKTEPEGLRPASPLALTQGQVSGHGSCGCALPLSQEQLADLKED    351 - 420
LDRDDCKQEAEVVIYETNCHWEDCTKEYDTQEQLVHHINNEHIHGEKKEFVCRWQACTREQKPFKAQYML    421 - 490
VVHMRRHTGEKPHKCTFEGCSKAYSRLENLKTHLRSHTGEKPYVCEHEGCNKAFSNASDRAKHQNRTHSN    491 - 560
EKPYICKIPGCTKRYTDPSSLRKHVKTVHGPDAHVTKKQRNDVHLRTPLLKENGDSEAGTEPGGPESTEA    561 - 630
SSTSQAVEDCLHVRAIKTESSGLCQSSPGAQSSCSSEPSPLGSAPNNDSGVEMPGTGPGSLGDLTALDDT    631 - 700
PPGADTSALAAPSAGGLQLRKHMTTMHRFEQLKKEKLKSLKDSCSWAGPTPHTRNTKLPPLPGSGSILEN    701 - 770
FSGSGGGGPAGLLPNPRLSELSASEVTMLSQLQERRDSSTSTVSSAYTVSRRSSGISPYFSSRRSSEASP    771 - 840
LGAGRPHNASSADSYDPISTDASRRSSEASQCSGGSGLLNLTPAQQYSLRAKYAAATGGPPPTPLPGLER    841 - 910
MSLRTRLALLDAPERTLPAGCPRPLGPRRGSDGPTYGHGHAGAAPAFPHEAPGGGARRASDPVRRPDALS    911 - 980
LPRVQRFHSTHNVNPGPLPPCADRRGLRLQSHPSTDGGLARGAYSPRPPSISENVAMEAVAAGVDGAGPE    981 - 1050
ADLGLPEDDLVLPDDVVQYIKAHASGALDEGTGQVYPTESTGFSDNPRLPSPGLHGQRRMVAADSNVGPS   1051 - 1120
APMLGGCQLGFGAPSSLNKNNMPVQWNEVSSGTVDALASQVKPPPFPQGNLAVVQQKPAFGQYPGYSPQG   1121 - 1190
LQASPGGLDSTQPHLQPRSGAPSQGIPRVNYMQQLRQPVAGSQCPGMTTTMSPHACYGQVHPQLSPSTIS   1191 - 1260
GALNQFPQSCSNMPAKPGHLGHPQQTEVAPDPTTMGNRHRELGVPDSALAGVPPPHPVQSYPQQSHHLAA   1261 - 1330
SMSQEGYHQVPSLLPARQPGFMEPQTGPMGVATAGFGLVQPRPPLEPSPTGRHRGVRAVQQQLAYARATG   1331 - 1400
HAMAAMPSSQETAEAVPKGAMGNMGSVPPQPPPQDAGGAPDHSMLYYYGQIHMYEQDGGLENLGSCQVMR   1401 - 1470
SQPPQPQACQDSIQPQPLPSPGVNQVSSTVDSQLLEAPQIDFDAIMDDGDHSSLFSGALSPSLLHSLSQN   1471 - 1540
SSRLTTPRNSLTLPSIPAGISNMAVGDMSSMLTSLAEESKFLNMMT                           1541 - 1586
//

Text Mined References (141)

PMID Year Title