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 39
Abnormally small eyeball 94
Agenesis of corpus callosum 79
Ambiguous Genitalia 21
Anteverted nostril 186
Ascites 22
Autosomal recessive predisposition 1407
Bifid scrotum 14
Brachycephaly 86
Broad cranium shape 86
Cataract 290
Cerebellar Hypoplasia 61
Cerebral hypoplasia 3
Cleft Palate 265
Clouding of corneal stroma 49
Cognitive delay 596
Combined immunodeficiency 5
Concave bridge of nose 191
Congenital Epicanthus 175
Congenital hypoplasia of penis 168
Corneal Opacity 52
Cryptorchidism 287
Cystic kidney 30
Dandy-Walker Syndrome 35
Decreased projection of midface 104
Decreased size of eyeball 94
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Dilated ventricles (finding) 119
Dull intelligence 634
Epilepsies, Myoclonic 30
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Generalized hypotonia 37
Generalized myoclonic seizures 28
Glaucoma 232
Global developmental delay 596
Global developmental delay, severe 47
Hematologic Neoplasms 22
Hereditary nonpolyposis colorectal carcinoma 18
High forehead 101
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hydrocephalus 148
Hypodysplasia of the corpus callosum 1
Hypoplastic mandible condyle 273
Hypoplastic sternum 5
Hypotrophic malar bone 129
Hypotrophic midface 104
Increased gastric cancer 21
Increased nuchal translucency 6
Infant, Small for Gestational Age 174
Intellectual disability 998
Intrauterine retardation 174
Leiomyosarcoma of uterus 13
Lens Opacities 227
Leukemia 103
Long philtrum 137
Low Birth Weights 69
Low intelligence 634
Low set ears 178
Malar flattening 129
Mandibular hypoplasia 273
Maternal oligohydramnios 29
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micrognathism 273
Microphthalmos 95
Midface retrusion 104
Muscle biopsy shows dystrophic changes 39
Muscular dystrophy 75
Myoclonic Epilepsies, Progressive 42
Nephroblastoma 50
Nystagmus 309
Oligohydramnios 50
Orbital separation excessive 240
Penile hypospadias 102
Phenotypic variability 147
Polyhydramnios 106
Poor school performance 634
Posteriorly rotated ear 59
Postnatal growth retardation 56
Premature chromatid separation 2
Profound Mental Retardation 31
Profound intellectual disabilities 31
Renal Cell Carcinoma 211
Renal cyst 30
Rhabdomyosarcoma 39
Severe psychomotor retardation 47
Short neck 139
Short nose 127
Short stature 514
Short sternum 5
Small for gestational age (disorder) 69
Small head 366
Small midface 104
Small nose 127
Squamous cell carcinoma of esophagus 72
Stomach Neoplasms 287
Tall forehead 101
Tonic - clonic seizures 43
Transitional cell carcinoma of bladder 17
Triangular face 57
Triangular mouth 6
Upward slant of palpebral fissure 74
Uranostaphyloschisis 162
Wide nose 35
Wide skull shape 86
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.9
Liver cancer 589 0.0 0.5
Disease Target Count Z-score Confidence
Cancer 2388 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