Property Summary

NCBI Gene PubMed Count 140
PubMed Score 66.77
PubTator Score 387.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormally-shaped vertebrae 31
Absence of eyebrows 31
Absence of rib 7
Acquired flat foot 72
Anteverted nostril 191
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the eyebrow 31
Attention deficit hyperactivity disorder 278
Big calvaria 147
Blepharoptosis 231
Bone marrow hypocellularity 20
Broad hallux phalanx 8
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Clinodactyly of toes 3
Cognitive delay 608
Congenital Epicanthus 177
Constipation 181
Corneal diameter decreased 47
Cryptorchidism 296
Decreased platelet count 111
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Ewings sarcoma 8
Ewings sarcoma-primitive neuroectodermal tumor (PNET) 3
Extraosseous Ewings sarcoma-primitive neuroepithelial tumor 4
Facial asymmetry 32
Feeding difficulties in infancy 175
Flatfoot 73
Frontal bossing 157
Global developmental delay 608
High forehead 102
Hyperplasia of columella 4
Hypoplastic toes 29
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Jacobsen Distal 11q Deletion Syndrome 1
Long hallux 5
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Orbital separation excessive 244
Paris-Trousseau Thrombocytopenia 1
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Recurrent respiratory infections 141
Short neck 140
Short nose 132
Short stature 531
Small nose 132
Smooth philtrum 43
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Strabismus 270
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall forehead 102
Thrombocytopenia 197
Thrombocytopenia Paris-Trousseau type 1
Toe curvature 3
Ventricular Septal Defects 119
Wide columella 4
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Globe disease 67 0.0 3.0
Disease Target Count Z-score Confidence
Cancer 2499 0.0 4.0

Expression

  Differential Expression (20)

Disease log2 FC p
Astrocytoma, Pilocytic 1.400 1.6e-06
cutaneous lupus erythematosus 1.100 1.8e-02
cystic fibrosis 1.964 7.3e-06
interstitial cystitis 1.700 4.5e-04
intraductal papillary-mucinous adenoma (... -1.900 7.9e-03
intraductal papillary-mucinous carcinoma... -2.600 4.3e-04
intraductal papillary-mucinous neoplasm ... -2.300 7.7e-03
lung adenocarcinoma -1.400 1.9e-14
lung cancer -1.400 2.4e-03
lung carcinoma -2.100 1.3e-25
malignant mesothelioma -2.200 4.3e-07
Multiple myeloma 1.427 2.6e-03
nephrosclerosis 1.563 9.2e-04
non-small cell lung cancer -1.838 8.0e-22
osteosarcoma -2.001 1.8e-06
ovarian cancer -1.700 1.0e-04
primary Sjogren syndrome 2.200 5.7e-05
tuberculosis 1.100 4.6e-04
ulcerative colitis 2.500 2.3e-05
Waldenstrons macroglobulinemia 1.356 6.4e-03

Gene RIF (105)

AA Sequence

MDGTIKEALSVVSDDQSLFDSAYGAAAHLPKADMTASGSPDYGQPHKINPLPPQQEWINQPVRVNVKREY      1 - 70
DHMNGSRESPVDCSVSKCSKLVGGGESNPMNYNSYMDEKNGPPPPNMTTNERRVIVPADPTLWTQEHVRQ     71 - 140
WLEWAIKEYSLMEIDTSFFQNMDGKELCKMNKEDFLRATTLYNTEVLLSHLSYLRESSLLAYNTTSHTDQ    141 - 210
SSRLSVKEDPSYDSVRRGAWGNNMNSGLNKSPPLGGAQTISKNTEQRPQPDPYQILGPTSSRLANPGSGQ    211 - 280
IQLWQFLLELLSDSANASCITWEGTNGEFKMTDPDEVARRWGERKSKPNMNYDKLSRALRYYYDKNIMTK    281 - 350
VHGKRYAYKFDFHGIAQALQPHPTESSMYKYPSDISYMPSYHAHQQKVNFVPPHPSSMPVTSSSFFGAAS    351 - 420
QYWTSPTGGIYPNPNVPRHPNTHVPSHLGSYY                                          421 - 452
//

Text Mined References (143)

PMID Year Title