Property Summary

Ligand Count 64
NCBI Gene PubMed Count 140
PubMed Score 896.79
PubTator Score 585.89

Knowledge Summary

Patent (30,266)

TINX Plot

  Disease (8)

Disease Target Count
Abnormal development of end part of bone 14
Abnormality of the metaphyses 48
Autosomal recessive predisposition 1442
Barrel chest 12
Brachydactyly 156
Byzanthine arch palate 194
Carpal bone hypoplasia 6
Chronic Liver Failure 2
Cognitive delay 608
Concave bridge of nose 195
Cone-shaped epiphyses of phalanges 15
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital heart disease 93
Coxa valga 22
Coxa valga deformity 22
Death in early childhood 82
Death in infancy 82
Decreased size of teeth 62
Decreased width of tooth 59
Dehydration 40
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diabetes Mellitus, Insulin-Dependent 48
Disproportionately short middle phalanges 6
Dull intelligence 645
Elevated hepatic transaminases 81
Enlarged thorax 18
Epiphyseal dysplasia 14
Flat epiphyses 7
Gait abnormality 135
Generalized osteopenia 99
Global developmental delay 608
Glycosuria 29
Hepatic enzyme increased 81
Hepatomegaly 285
High forehead 102
Hyperglycemia 137
Hyperopia 70
Hyperuricemia 49
Infantile onset 238
Insulin resistant diabetes 13
Intellectual disability 1016
Intracerebral periventricular calcifications 2
Irregular ankle bone maturation 1
Irregular carpal bones 2
Irregular tarsal ossification 1
Irregular vertebral endplates 16
Ivory epiphyses of the toes 1
Ketoacidosis 11
Kidney Failure 111
Knee joint valgus deformity 56
Liver Dysfunction 99
Liver Failure, Acute 29
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Lordosis 54
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Motor delay 147
Multiple epiphyseal dysplasia 18
Muscle Hypertonia 88
Muscle hypotonia 571
Narrow iliac wings 7
Neutrophil count decreased 47
No development of motor milestones 147
ODONTOID HYPOPLASIA 16
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
Platyspondyly 56
Poor school performance 645
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Reduced pancreatic beta cells 6
Renal Insufficiency 90
Renal failure in adulthood 76
Renal tubular disorder 12
Sclerotic ivory phalangeal epiphyses 3
Short stature 531
Short thorax 21
Small epiphyses 9
Small head 374
Small wrist bones 6
Steatorrhea 34
Subclinical abnormal liver function tests 81
Tall forehead 102
Thin lips 49
Transaminases increased 81
Transient neonatal diabetes mellitus 14
Triangular face 58
Upward slant of palpebral fissure 75
Weight decreased 103
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Central nervous system disease 10 0.0 3.0
Disease Target Count Z-score Confidence
diabetes mellitus 1728 3.306 1.7
Disease Target Count Z-score Confidence
Cancer 2499 5.373 2.7
Vascular disease 319 3.796 1.9

Expression

  Differential Expression (6)

Disease log2 FC p
acute quadriplegic myopathy 1.075 8.4e-06
Chronic Lymphocytic Leukemia -1.843 2.0e-05
intraductal papillary-mucinous neoplasm ... -1.200 2.1e-03
osteosarcoma 1.731 1.4e-05
ovarian cancer 2.500 9.7e-06
psoriasis 2.300 3.5e-04

Synonym

Accession Q9NZJ5 A0AVH1 A0AVH2 B2RCU9 O95846 Q53QY0 Q53SB1
Symbols PEK
WRS
PERK

Gene

PDB (11)

Gene RIF (116)

AA Sequence

MERAISPGLLVRALLLLLLLLGLAARTVAAGRARGLPAPTAEAAFGLGAAAAPTSATRVPAAGAVAAAEV      1 - 70
TVEDAEALPAAAGEQEPRGPEPDDETELRPRGRSLVIISTLDGRIAALDPENHGKKQWDLDVGSGSLVSS     71 - 140
SLSKPEVFGNKMIIPSLDGALFQWDQDRESMETVPFTVESLLESSYKFGDDVVLVGGKSLTTYGLSAYSG    141 - 210
KVRYICSALGCRQWDSDEMEQEEDILLLQRTQKTVRAVGPRSGNEKWNFSVGHFELRYIPDMETRAGFIE    211 - 280
STFKPNENTEESKIISDVEEQEAAIMDIVIKVSVADWKVMAFSKKGGHLEWEYQFCTPIASAWLLKDGKV    281 - 350
IPISLFDDTSYTSNDDVLEDEEDIVEAARGATENSVYLGMYRGQLYLQSSVRISEKFPSSPKALESVTNE    351 - 420
NAIIPLPTIKWKPLIHSPSRTPVLVGSDEFDKCLSNDKFSHEEYSNGALSILQYPYDNGYYLPYYKRERN    421 - 490
KRSTQITVRFLDNPHYNKNIRKKDPVLLLHWWKEIVATILFCIIATTFIVRRLFHPHPHRQRKESETQCQ    491 - 560
TENKYDSVSGEANDSSWNDIKNSGYISRYLTDFEPIQCLGRGGFGVVFEAKNKVDDCNYAIKRIRLPNRE    561 - 630
LAREKVMREVKALAKLEHPGIVRYFNAWLEAPPEKWQEKMDEIWLKDESTDWPLSSPSPMDAPSVKIRRM    631 - 700
DPFATKEHIEIIAPSPQRSRSFSVGISCDQTSSSESQFSPLEFSGMDHEDISESVDAAYNLQDSCLTDCD    701 - 770
VEDGTMDGNDEGHSFELCPSEASPYVRSRERTSSSIVFEDSGCDNASSKEEPKTNRLHIGNHCANKLTAF    771 - 840
KPTSSKSSSEATLSISPPRPTTLSLDLTKNTTEKLQPSSPKVYLYIQMQLCRKENLKDWMNGRCTIEERE    841 - 910
RSVCLHIFLQIAEAVEFLHSKGLMHRDLKPSNIFFTMDDVVKVGDFGLVTAMDQDEEEQTVLTPMPAYAR    911 - 980
HTGQVGTKLYMSPEQIHGNSYSHKVDIFSLGLILFELLYPFSTQMERVRTLTDVRNLKFPPLFTQKYPCE    981 - 1050
YVMVQDMLSPSPMERPEAINIIENAVFEDLDFPGKTVLRQRSRSLSSSGTKHSRQSNNSHSPLPSN       1051 - 1116
//

Text Mined References (146)

PMID Year Title