Property Summary

Ligand Count 7
NCBI Gene PubMed Count 207
PubMed Score 395.04
PubTator Score 861.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal eating behavior 1
Abnormality of vision 40
Abnormally small eyeball 97
Astigmatism 54
Autism Spectrum Disorders 75
Autistic behavior 20
Autosomal recessive predisposition 1442
Big calvaria 147
Broad nasal tip 28
Cerebral atrophy 178
Chubby cheeks 50
Cognitive delay 608
Congenital ocular coloboma (disorder) 40
Decreased size of eyeball 97
Degenerative brain disorder 100
Delayed speech and language development 112
Dull intelligence 645
Enophthalmos 75
Epilepsy 792
Failure to gain weight 365
Full cheeks 50
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperactive behavior 91
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Language Delay 112
Lethargy 77
Liver carcinoma 240
Long ears 2
Low intelligence 645
Mammary Neoplasms 425
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microphthalmos 100
Mild Mental Retardation 70
Motor delay 147
Muscle Hypertonia 88
Muscle hypotonia 571
Myopia 176
No development of motor milestones 147
Nystagmus 317
Optic Atrophy 242
Pancreatic Neoplasm 85
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Phenotypic variability 150
Poor growth 114
Poor school performance 645
Puffy cheeks 50
Quadriplegia 20
Reduced dihydropyrimidine dehydrogenase activity 2
Seizures 596
Short nose 132
Shyness 1
Small head 374
Small nose 132
Speech Delay 112
Speech impairment 112
Sunken eyes 63
Supratentorial atrophy 94
Upward slant of palpebral fissure 75
Very poor growth 114
nervous system disorder 53
Disease Target Count
Malignant tumor of stomach 12
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.8
Melanoma 711 0.0 0.7
Skin cancer 469 0.0 0.6
Disease Target Count Z-score Confidence
Bipolar Disorder 666 0.0 2.0
Schizophrenia 1160 0.0 3.0
Disease Target Count
1p21.3 microdeletion syndrome 1

Expression

  Differential Expression (23)

Disease log2 FC p
active Crohn's disease 1.466 1.1e-02
adrenocortical carcinoma -1.794 5.7e-03
adult high grade glioma 3.000 7.2e-06
aldosterone-producing adenoma -1.141 2.3e-02
Astrocytoma, Pilocytic 2.400 3.1e-07
atypical teratoid/rhabdoid tumor 1.100 4.2e-02
Breast cancer -2.100 5.2e-10
chronic lymphosyte leukemia -1.400 4.6e-06
colon cancer -1.800 1.5e-02
cystic fibrosis 3.105 4.1e-07
ependymoma 1.600 1.5e-03
glioblastoma 2.100 3.7e-04
intraductal papillary-mucinous adenoma (... -2.200 4.5e-02
intraductal papillary-mucinous carcinoma... -2.300 1.1e-02
lung cancer -3.300 1.4e-05
lung carcinoma -1.200 7.9e-15
malignant mesothelioma -1.900 7.4e-06
non-small cell lung cancer -1.340 2.4e-09
osteosarcoma 1.097 1.4e-04
ovarian cancer -5.200 6.3e-09
pancreatic ductal adenocarcinoma liver m... -1.198 3.8e-02
tuberculosis 3.600 2.0e-08
ulcerative colitis 1.700 2.6e-05

Gene RIF (193)

AA Sequence

MAPVLSKDSADIESILALNPRTQTHATLCSTSAKKLDKKHWKRNPDKNCFNCEKLENNFDDIKHTTLGER      1 - 70
GALREAMRCLKCADAPCQKSCPTNLDIKSFITSIANKNYYGAAKMIFSDNPLGLTCGMVCPTSDLCVGGC     71 - 140
NLYATEEGPINIGGLQQFATEVFKAMSIPQIRNPSLPPPEKMSEAYSAKIALFGAGPASISCASFLARLG    141 - 210
YSDITIFEKQEYVGGLSTSEIPQFRLPYDVVNFEIELMKDLGVKIICGKSLSVNEMTLSTLKEKGYKAAF    211 - 280
IGIGLPEPNKDAIFQGLTQDQGFYTSKDFLPLVAKGSKAGMCACHSPLPSIRGVVIVLGAGDTAFDCATS    281 - 350
ALRCGARRVFIVFRKGFVNIRAVPEEMELAKEEKCEFLPFLSPRKVIVKGGRIVAMQFVRTEQDETGKWN    351 - 420
EDEDQMVHLKADVVISAFGSVLSDPKVKEALSPIKFNRWGLPEVDPETMQTSEAWVFAGGDVVGLANTTV    421 - 490
ESVNDGKQASWYIHKYVQSQYGASVSAKPELPLFYTPIDLVDISVEMAGLKFINPFGLASATPATSTSMI    491 - 560
RRAFEAGWGFALTKTFSLDKDIVTNVSPRIIRGTTSGPMYGPGQSSFLNIELISEKTAAYWCQSVTELKA    561 - 630
DFPDNIVIASIMCSYNKNDWTELAKKSEDSGADALELNLSCPHGMGERGMGLACGQDPELVRNICRWVRQ    631 - 700
AVQIPFFAKLTPNVTDIVSIARAAKEGGANGVTATNTVSGLMGLKSDGTPWPAVGIAKRTTYGGVSGTAI    701 - 770
RPIALRAVTSIARALPGFPILATGGIDSAESGLQFLHSGASVLQVCSAIQNQDFTVIEDYCTGLKALLYL    771 - 840
KSIEELQDWDGQSPATVSHQKGKPVPRIAELMDKKLPSFGPYLEQRKKIIAENKIRLKEQNVAFSPLKRN    841 - 910
CFIPKRPIPTIKDVIGKALQYLGTFGELSNVEQVVAMIDEEMCINCGKCYMTCNDSGYQAIQFDPETHLP    911 - 980
TITDTCTGCTLCLSVCPIVDCIKMVSRTTPYEPKRGVPLSVNPVC                             981 - 1025
//

Text Mined References (217)

PMID Year Title