Property Summary

NCBI Gene PubMed Count 77
PubMed Score 106.10
PubTator Score 102.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of cardiovascular system morphology 23
Abnormality of the columella 1
Abnormality of the nares 2
Acquired scoliosis 281
Adenoid Cystic Carcinoma 99
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 5
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Bushy eyebrows 49
Cerebellar hypoplasia and atrophy 41
Chubby cheeks 50
Coarse facial features 108
Cognitive delay 608
Concave bridge of nose 195
Congenital anomaly of face 56
Congenital deafness 185
Cryptorchidism 296
Curvature of spine 282
Dandy-Walker Syndrome 39
Deafness 198
Decreased projection of midface 105
Dental abnormalities 60
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Epilepsy 792
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Full cheeks 50
Full lower lip 64
Funny looking face 46
Generalized hirsutism 36
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hyperplasia of cheeks 50
Hypertrichosis 46
Hypertrophy of cheeks 50
Hypoplastic fifth fingernail 5
Hypoplastic fifth toenail 2
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint hyperflexibility 78
Long eyelashes 37
Long nose 15
Low intelligence 645
Low set ears 181
Macrostomia 72
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midface retrusion 105
Muscle hypotonia 571
Nasal bridge wide 236
Nystagmus 317
Open mouth 45
Patella aplasia-hypoplasia 12
Poor growth 114
Poor school performance 645
Posteriorly rotated ear 61
Prominent lower lip 64
Puffy cheeks 50
Recurrent respiratory infections 141
Seizures 596
Short distal phalanges 50
Short lower third of face 9
Short nose 132
Short palpebral fissure 38
Short philtrum 53
Short stature 531
Slow-growing hair 19
Small chin 9
Small head 374
Small midface 105
Small nose 132
Strabismus 270
Thick vermilion border 25
Thick, flared eyebrows 41
Thickened facial skin with coarse facial features 108
Thin hypoplastic alae nasi 51
Tooth Abnormalities 69
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Very poor growth 114
facial deformity 46
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count
Coffin-Siris syndrome 17

Expression

  Differential Expression (17)

Disease log2 FC p
adult high grade glioma 1.900 2.8e-02
astrocytic glioma 2.400 4.8e-03
atypical teratoid/rhabdoid tumor 2.000 2.7e-02
Breast cancer 2.800 2.0e-04
ductal carcinoma in situ 3.400 2.5e-02
ependymoma 2.000 1.2e-02
glioblastoma 2.100 2.9e-03
group 3 medulloblastoma 3.800 1.5e-04
lung cancer 1.500 1.2e-02
malignant mesothelioma 5.000 8.8e-09
medulloblastoma, large-cell 3.900 1.2e-04
oligodendroglioma 2.900 2.6e-03
osteosarcoma 1.904 3.9e-02
ovarian cancer 1.500 1.8e-03
pancreatic cancer 1.200 2.3e-03
primitive neuroectodermal tumor 4.800 9.9e-06
psoriasis -1.600 1.4e-15

 GO Component (2)

 GWAS Trait (1)

Gene RIF (62)

AA Sequence

MVQQAESLEAESNLPREALDTEEGEFMACSPVALDESDPDWCKTASGHIKRPMNAFMVWSKIERRKIMEQ      1 - 70
SPDMHNAEISKRLGKRWKMLKDSEKIPFIREAERLRLKHMADYPDYKYRPRKKPKMDPSAKPSASQSPEK     71 - 140
SAAGGGGGSAGGGAGGAKTSKGSSKKCGKLKAPAAAGAKAGAGKAAQSGDYGGAGDDYVLGSLRVSGSGG    141 - 210
GGAGKTVKCVFLDEDDDDDDDDDELQLQIKQEPDEEDEEPPHQQLLQPPGQQPSQLLRRYNVAKVPASPT    211 - 280
LSSSAESPEGASLYDEVRAGATSGAGGGSRLYYSFKNITKQHPPPLAQPALSPASSRSVSTSSSSSSGSS    281 - 350
SGSSGEDADDLMFDLSLNFSQSAHSASEQQLGGGAAAGNLSLSLVDKDLDSFSEGSLGSHFEFPDYCTPE    351 - 420
LSEMIAGDWLEANFSDLVFTY                                                     421 - 441
//

Text Mined References (79)

PMID Year Title