Property Summary

NCBI Gene PubMed Count 149
PubMed Score 309.15
PubTator Score 248.84

Knowledge Summary

Patent (7,682)

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of vision 40
Abnormally small eyeball 97
Agenesis of corpus callosum 83
Ambiguous Genitalia 24
Anteverted nostril 191
Ascites 22
Autosomal recessive predisposition 1442
Bifid scrotum 16
Brachycephaly 88
Broad cranium shape 88
Cataract 297
Cerebellar Hypoplasia 61
Cerebral hypoplasia 3
Cleft Palate 271
Clouding of corneal stroma 50
Cognitive delay 608
Combined immunodeficiency 5
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital hypoplasia of penis 176
Corneal Opacity 53
Cryptorchidism 296
Cystic kidney 30
Dandy-Walker Syndrome 39
Decreased projection of midface 105
Decreased size of eyeball 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Epilepsies, Myoclonic 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Generalized hypotonia 37
Generalized myoclonic seizures 30
Glaucoma 239
Global developmental delay 608
Global developmental delay, severe 47
Hematologic Neoplasms 22
Hereditary nonpolyposis colorectal carcinoma 18
High forehead 102
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrocephalus 152
Hypodysplasia of the corpus callosum 1
Hypoplastic mandible condyle 275
Hypoplastic sternum 5
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased gastric cancer 21
Increased nuchal translucency 6
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Leiomyosarcoma of uterus 13
Lens Opacities 231
Leukemia 104
Long philtrum 137
Low Birth Weights 69
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Muscle biopsy shows dystrophic changes 39
Muscular dystrophy 75
Myoclonic Epilepsies, Progressive 44
Nephroblastoma 51
Nystagmus 317
Oligohydramnios 52
Orbital separation excessive 244
Penile hypospadias 106
Phenotypic variability 150
Polyhydramnios 108
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Premature chromatid separation 2
Profound Mental Retardation 31
Profound intellectual disabilities 31
Renal Cell Carcinoma 214
Renal cyst 30
Rhabdomyosarcoma 39
Severe psychomotor retardation 47
Short neck 140
Short nose 132
Short stature 531
Short sternum 5
Small for gestational age (disorder) 69
Small head 374
Small midface 105
Small nose 132
Squamous cell carcinoma of esophagus 77
Stomach Neoplasms 300
Tall forehead 102
Tonic - clonic seizures 44
Transitional cell carcinoma of bladder 17
Triangular face 58
Triangular mouth 6
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Wide nose 35
Wide skull shape 88
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Liver cancer 604 0.0 0.5
Disease Target Count Z-score Confidence
Cancer 2499 4.518 2.3
Disease Target Count Z-score Confidence
Alternating exotropia 1 4.32 2.2
Mitral valve stenosis 14 3.366 1.7

Expression

  Differential Expression (27)

Disease log2 FC p
adrenocortical carcinoma 3.115 9.8e-06
adult high grade glioma 2.500 4.2e-05
Atopic dermatitis 1.500 4.8e-05
atypical teratoid / rhabdoid tumor 3.800 2.1e-09
Breast cancer 2.600 2.1e-20
breast carcinoma 1.600 6.4e-37
cystic fibrosis and chronic rhinosinusit... 1.225 8.0e-03
ductal carcinoma in situ 2.900 2.7e-04
Endometriosis 2.203 9.2e-03
ependymoma 1.800 2.8e-06
glioblastoma 3.200 3.5e-12
group 3 medulloblastoma 4.200 3.0e-08
interstitial cystitis 1.200 7.5e-03
intraductal papillary-mucinous carcinoma... 2.800 1.2e-04
intraductal papillary-mucinous neoplasm ... 3.600 2.8e-04
invasive ductal carcinoma 3.100 8.8e-05
lung adenocarcinoma 1.100 1.3e-08
lung cancer 3.500 7.0e-06
malignant mesothelioma 1.300 7.6e-07
medulloblastoma, large-cell 3.800 3.4e-07
nasopharyngeal carcinoma 1.700 1.9e-05
non-small cell lung cancer 3.595 5.5e-32
ovarian cancer 2.200 5.2e-05
pancreatic cancer 1.600 4.9e-06
pituitary cancer 1.600 2.4e-04
primitive neuroectodermal tumor 3.500 3.7e-07
psoriasis 1.400 4.4e-34

Protein-protein Interaction (1)

Gene RIF (103)

AA Sequence

MAAVKKEGGALSEAMSLEGDEWELSKENVQPLRQGRIMSTLQGALAQESACNNTLQQQKRAFEYEIRFYT      1 - 70
GNDPLDVWDRYISWTEQNYPQGGKESNMSTLLERAVEALQGEKRYYSDPRFLNLWLKLGRLCNEPLDMYS     71 - 140
YLHNQGIGVSLAQFYISWAEEYEARENFRKADAIFQEGIQQKAEPLERLQSQHRQFQARVSRQTLLALEK    141 - 210
EEEEEVFESSVPQRSTLAELKSKGKKTARAPIIRVGGALKAPSQNRGLQNPFPQQMQNNSRITVFDENAD    211 - 280
EASTAELSKPTVQPWIAPPMPRAKENELQAGPWNTGRSLEHRPRGNTASLIAVPAVLPSFTPYVEETARQ    281 - 350
PVMTPCKIEPSINHILSTRKPGKEEGDPLQRVQSHQQASEEKKEKMMYCKEKIYAGVGEFSFEEIRAEVF    351 - 420
RKKLKEQREAELLTSAEKRAEMQKQIEEMEKKLKEIQTTQQERTGDQQEETMPTKETTKLQIASESQKIP    421 - 490
GMTLSSSVCQVNCCARETSLAENIWQEQPHSKGPSVPFSIFDEFLLSEKKNKSPPADPPRVLAQRRPLAV    491 - 560
LKTSESITSNEDVSPDVCDEFTGIEPLSEDAIITGFRNVTICPNPEDTCDFARAARFVSTPFHEIMSLKD    561 - 630
LPSDPERLLPEEDLDVKTSEDQQTACGTIYSQTLSIKKLSPIIEDSREATHSSGFSGSSASVASTSSIKC    631 - 700
LQIPEKLELTNETSENPTQSPWCSQYRRQLLKSLPELSASAELCIEDRPMPKLEIEKEIELGNEDYCIKR    701 - 770
EYLICEDYKLFWVAPRNSAELTVIKVSSQPVPWDFYINLKLKERLNEDFDHFCSCYQYQDGCIVWHQYIN    771 - 840
CFTLQDLLQHSEYITHEITVLIIYNLLTIVEMLHKAEIVHGDLSPRCLILRNRIHDPYDCNKNNQALKIV    841 - 910
DFSYSVDLRVQLDVFTLSGFRTVQILEGQKILANCSSPYQVDLFGIADLAHLLLFKEHLQVFWDGSFWKL    911 - 980
SQNISELKDGELWNKFFVRILNANDEATVSVLGELAAEMNGVFDTTFQSHLNKALWKVGKLTSPGALLFQ    981 - 1050
//

Text Mined References (164)

PMID Year Title