Property Summary

NCBI Gene PubMed Count 1,131
PubMed Score 1076.78
PubTator Score 1264.03

Knowledge Summary

Patent (139,462)

TINX Plot

  Disease (9)

Disease Target Count
Abdominal Pain 95
Abnormality of cardiovascular system morphology 22
Abnormality of metabolism/homeostasis 133
Abnormality of the penis 7
Abnormally small eyeball 94
Acquired scoliosis 274
Action Tremor 22
Adenocarcinoma of lung (disorder) 59
Adenoid Cystic Carcinoma 90
Adult onset 81
Angioid streaks 11
Anxiety 135
Anxiety disease 112
Asymmetric growth 5
Attention deficit hyperactivity disorder 272
Autosomal recessive predisposition 1407
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 12
Big calvaria 147
Broad forehead 58
Bronchioloalveolar Adenocarcinoma 14
Byzanthine arch palate 194
Cardiovascular Abnormalities 31
Cardiovascular Diseases 57
Cataract 290
Cerebellar Ataxia 302
Cerebellar hypoplasia and atrophy 39
Chubby cheeks 49
Cognitive delay 596
Colon diverticulum anatomic structure 15
Colorectal cancer 24
Concave bridge of nose 191
Congenital Epicanthus 175
Congenital abnormality of vein 3
Congenital arteriovenous malformation 8
Congenital deafness 180
Congenital hemihypertrophy 6
Congenital macrodactylia 4
Conjunctival hamartoma 7
Constipation 174
Curvature of spine 275
Cutis marmorata 31
Deafness 193
Death in early adulthood 24
Death in early childhood 82
Death in infancy 82
Decreased projection of maxilla 65
Decreased size of eyeball 94
Deficiency of upper jaw bones 65
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Depressive disorder 401
Diffuse large B-cell lymphoma 37
Dilated ventricles (finding) 119
Diverticular disease of colon 15
Downward slant of palpebral fissure 158
Dull intelligence 634
Dyschezia 129
Dysgerminoma 11
Enlargement of skull bones 7
Epilepsy 775
Excessive growth of skull bones 7
Facial asymmetry 31
Failure to gain weight 359
Fatigue 176
Fetal Alcohol Spectrum Disorders 11
Fetal alcohol syndrome 20
Fetal overgrowth 16
Fibroadenoma of breast 3
Fibrous skin tumor of tuberous sclerosis 18
Fissured tongue 24
Fleshy earlobes 8
Frontal bossing 154
Full cheeks 49
Gastrointestinal Hemorrhage 49
Gastrointestinal hamartomatous polyps 10
Generalized overgrowth 16
Global developmental delay 596
Goiter 37
Gynecomastia 61
Hamartoma Syndrome, Multiple 10
Hamartomatous polyp 10
Hand polydactyly 10
Hearing Loss, Partial 180
Hemangioma, Cavernous 20
Hematologic Neoplasms 22
Hemimegalencephaly 5
Hereditary Nonpolyposis Colorectal Cancer 11
Hereditary nonpolyposis colorectal carcinoma 18
Hernia 8
High forehead 101
Hydrocephalus 148
Hyperkeratosis, generalized 14
Hyperkyphosis 109
Hyperostosis of cranial vault 7
Hyperpigmented macules 41
Hyperplasia of cheeks 49
Hyperthyroidism 52
Hypertrophy of cheeks 49
Hypertrophy of cranial bones 7
Hypoplasia of the maxilla 65
Hypoplastic mandible condyle 273
Hypothyroidism 115
Hypotrophic maxilla 65
Impaired cognition 95
Increased gastric cancer 21
Increased head circumference 147
Increased hepatocellular carcinoma risk 27
Increased incidence of hepatocellular carcinoma 27
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 998
Intermittent migraine headaches 66
Intracranial hypertension 30
Irritation - emotion 67
Isolated cases 70
Joint hyperflexibility 76
Joint laxity 52
Kyphosis deformity of spine 112
Leiomyosarcoma of uterus 13
Lens Opacities 227
Leukemia 103
Lipoma 32
Liver carcinoma 229
Low intelligence 634
Macrocephaly 11
Macroglossia 62
Macrostomia 70
Macule 19
Malabsorption 81
Malignant neoplasm of breast 14
Malignant neoplasm of ovary 3
Malignant tumor of colon 19
Mammary Neoplasms 403
Mandibular hypoplasia 273
Maxillary retrognathia 65
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 4
Megalencephaly cutis marmorata telangiectatica congenita 1
Melanocytic nevus 43
Meningioma 39
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Micrognathism 273
Micronodular cirrhosis 12
Microphthalmos 95
Microstomia 76
Migraine Disorders 74
Mucosal telangiectasiae 14
Multiple, subcutaneous nodules 49
Muscle Hypertonia 88
Muscle hypotonia 562
Myopia 175
NEVUS, EPIDERMAL (disorder) 5
Nausea and vomiting 93
Nephroblastoma 50
Noncancerous mole 28
Numerous nevi 5
Orbital separation excessive 240
Ovarian Cysts 40
Ovarian papillary adenocarcinoma 5
Overgrowth 16
Palmoplantar keratosis 73
Papilloma 44
Papule 42
Pectus excavatum 100
Pediatric failure to thrive 359
Persistent cavum septum pellucidum 10
Polydactyly 106
Polydactyly of toes 12
Polymicrogyria 48
Polyp of large intestine 8
Poor school performance 634
Port-Wine Stain 8
Progressive macrocephaly 18
Puffy cheeks 49
Rectal Neoplasms 17
Retrusion of upper jaw bones 65
Sandal gap 24
Schizophrenia 1136
Sebaceous adenoma 26
Seborrheic keratosis 8
Seizures 584
Skin tag 14
Smooth philtrum 43
Somatic mutation 61
Splenomegaly 186
Squamous cell carcinoma of the head and neck 28
Stomach Carcinoma 11
Subacute progressive viral hepatitis 9
Subcutaneous lipomas 9
Subcutaneous nodule 49
Syndactyly 88
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall forehead 101
Telangiectasia of the skin 38
Terminal tremor 20
Testicular Hydrocele 7
Thick skull bones 7
Thyroid Gland Follicular Adenoma 9
Thyroiditis 28
Transitional cell carcinoma of bladder 17
Varicocele 25
Ventricular Septal Defects 113
Visceral angiomatosis 13
Warts 10
Weight decreased 101
breast carcinoma 1589
glioblastoma 5635
hearing impairment 194
Disease Target Count
follicular lymphoma 20
Disease Target Count Z-score Confidence
Cancer 2388 6.442 3.2
Disease Target Count Z-score Confidence
Proteus syndrome 6 3.953 2.0
Adenoma 159 3.17 1.6
Endometriosis 521 3.169 1.6

Expression

  Differential Expression (6)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.200 9.2e-07
ductal carcinoma in situ -1.200 4.4e-05
invasive ductal carcinoma -1.500 1.4e-04
juvenile dermatomyositis 1.168 3.2e-08
medulloblastoma, large-cell -1.200 5.0e-05
psoriasis -1.500 1.2e-04

Synonym

Accession P42336 Q14CW1 Q99762 PI3-kinase subunit alpha
Symbols MCM
CWS5
MCAP
PI3K
CLOVE
MCMTC
PI3K-alpha
p110-alpha

Gene

PANTHER Protein Class (2)

PDB

2RD0   3HHM   3HIZ   4JPS   4L1B   4L23   4L2Y   4OVU   4OVV   4WAF   4YKN   4ZOP   5FI4   5ITD   5SW8   5SWG   5SWO   5SWP   5SWR   5SWT   5SX8   5SX9   5SXA   5SXB   5SXC   5SXD   5SXE   5SXF   5SXI   5SXJ   5SXK   5UK8   5UKJ   5UL1   2ENQ   3ZIM   4TUU   4TV3   5DXH   5DXT   5UBR  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Protein-protein Interaction (1)

Gene RIF (1162)

AA Sequence

MPPRPSSGELWGIHLMPPRILVECLLPNGMIVTLECLREATLITIKHELFKEARKYPLHQLLQDESSYIF      1 - 70
VSVTQEAEREEFFDETRRLCDLRLFQPFLKVIEPVGNREEKILNREIGFAIGMPVCEFDMVKDPEVQDFR     71 - 140
RNILNVCKEAVDLRDLNSPHSRAMYVYPPNVESSPELPKHIYNKLDKGQIIVVIWVIVSPNNDKQKYTLK    141 - 210
INHDCVPEQVIAEAIRKKTRSMLLSSEQLKLCVLEYQGKYILKVCGCDEYFLEKYPLSQYKYIRSCIMLG    211 - 280
RMPNLMLMAKESLYSQLPMDCFTMPSYSRRISTATPYMNGETSTKSLWVINSALRIKILCATYVNVNIRD    281 - 350
IDKIYVRTGIYHGGEPLCDNVNTQRVPCSNPRWNEWLNYDIYIPDLPRAARLCLSICSVKGRKGAKEEHC    351 - 420
PLAWGNINLFDYTDTLVSGKMALNLWPVPHGLEDLLNPIGVTGSNPNKETPCLELEFDWFSSVVKFPDMS    421 - 490
VIEEHANWSVSREAGFSYSHAGLSNRLARDNELRENDKEQLKAISTRDPLSEITEQEKDFLWSHRHYCVT    491 - 560
IPEILPKLLLSVKWNSRDEVAQMYCLVKDWPPIKPEQAMELLDCNYPDPMVRGFAVRCLEKYLTDDKLSQ    561 - 630
YLIQLVQVLKYEQYLDNLLVRFLLKKALTNQRIGHFFFWHLKSEMHNKTVSQRFGLLLESYCRACGMYLK    631 - 700
HLNRQVEAMEKLINLTDILKQEKKDETQKVQMKFLVEQMRRPDFMDALQGFLSPLNPAHQLGNLRLEECR    701 - 770
IMSSAKRPLWLNWENPDIMSELLFQNNEIIFKNGDDLRQDMLTLQIIRIMENIWQNQGLDLRMLPYGCLS    771 - 840
IGDCVGLIEVVRNSHTIMQIQCKGGLKGALQFNSHTLHQWLKDKNKGEIYDAAIDLFTRSCAGYCVATFI    841 - 910
LGIGDRHNSNIMVKDDGQLFHIDFGHFLDHKKKKFGYKRERVPFVLTQDFLIVISKGAQECTKTREFERF    911 - 980
QEMCYKAYLAIRQHANLFINLFSMMLGSGMPELQSFDDIAYIRKTLALDKTEQEALEYFMKQMNDAHHGG    981 - 1050
WTTKMDWIFHTIKQHALN                                                       1051 - 1068
//

Text Mined References (1132)

PMID Year Title