Property Summary

NCBI Gene PubMed Count 501
PubMed Score 471.59
PubTator Score 1227.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 998
Abnormal number of teeth 2
Abnormality of refraction 2
Acquired flat foot 70
Acquired scoliosis 274
Adenocarcinoma of lung (disorder) 59
Adenoid Cystic Carcinoma 90
Agenesis of corpus callosum 79
Agoraphobia 20
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Atrial Septal Defects 81
Auricular malformation 41
Autistic Disorder 358
Bifid uterus 3
Bilateral fifth finger clinodactyly 109
Bipolar Disorder 646
Birthmark 35
Bladder Neoplasm 106
Blepharoptosis 229
Bowed and upward slanting eyebrows 39
Broad flat nasal bridge 232
Broad hallux 29
Broad thumbs 26
Bushy eyebrows 48
Byzanthine arch palate 194
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL 1
Cafe-au-Lait Spots 37
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Cataract 290
Cervical vertebral abnormalities 6
Chorioretinal dystrophy 4
Conduction disorder of the heart 79
Congenital Epicanthus 175
Congenital anomaly of the kidney 12
Congenital deafness 180
Congenital dislocation of radial head 14
Congenital ocular coloboma (disorder) 37
Constipation 174
Contracture 95
Contracture of joint 92
Convex nasal ridge 36
Corneal abnormalities 6
Cornela disease 6
Cryptorchidism 287
Curvature of little finger 109
Curvature of spine 275
Deafness 193
Decreased projection of maxilla 65
Defective enamel matrix 34
Deficiency of upper jaw bones 65
Delayed bone age 132
Delayed speech and language development 110
Dens evaginatus 3
Dental Enamel Hypoplasia 42
Deviated nasal septum 2
Downward slant of palpebral fissure 158
Duane Retraction Syndrome 11
Dull intelligence 634
Dyschezia 129
Dysplasia of tooth enamel 34
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 100
Endogenous depression 7
Enophthalmos 74
Epilepsy 775
Exophthalmos 110
Extra cusp on inside of front tooth 3
Facial grimacing 3
Failure to gain weight 359
Feeding difficulties in infancy 174
Flared iliac wings 12
Flatfoot 71
Flexion contracture 92
Flexion contractures of joints 92
Frontal bossing 154
Gait, Unsteady 29
Glaucoma 232
Globe retraction and deviation on adduction 3
Hair whorls 3
Hallucal duplication 3
Hearing Loss, Partial 180
High axial triradius 2
Highly variable severity 149
Hirschsprung Disease 29
Hirsutism 46
Hyperactive behavior 90
Hyperplasia of foramen magnum 6
Hyperreflexia 208
Hypoplasia of the maxilla 65
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 273
Hypotrophic maxilla 65
Impulsive Behavior 9
Inadequate arch length for tooth size 45
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Isolated cases 70
Joint laxity 52
Keloid 37
Kidney Diseases 110
Lacrimal Duct Obstruction 16
Language Delay 110
Large foramen magnum 6
Laryngomalacia 13
Late fontanel closure 28
Legg-Calve-Perthes disease 14
Lens Opacities 227
Limited eye motility from Duane anomaly 3
Long eyelashes 36
Low anterior hairline 30
Low hanging columella 4
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Malocclusion 57
Mandibular hypoplasia 273
Maxillary retrognathia 65
Megacolon 27
Mental Retardation 634
Mental deficiency 634
Micrognathism 273
Microstomia 76
Mirror movements disorder 8
Muscle hypotonia 562
Narrow palate 20
Nasal bridge wide 232
Obesity, Abdominal 23
Obstruction of nasolacrimal duct 9
Papillary cystadenoma of the epididymis 3
Partial/complete duplication of the phalanges of the hallux 3
Patent ductus arteriosus 86
Pectus excavatum 100
Pediatric failure to thrive 359
Penile hypospadias 102
Phonophobia 11
Plantar crease between first and second toes 2
Polydactyly 106
Polyhydramnios 106
Poor coordination 11
Poor school performance 634
Postnatal growth retardation 56
Premature development of the breasts 5
Prominent eyes 95
Prominent fingertip pads 6
Prominent globes 95
Protruding eyes 95
Radial deviation of thumb terminal phalanx 2
Recurrent upper respiratory tract infection 21
Reduced concentration span 9
Respiratory distress 42
Retrognathia 53
Retrusion of upper jaw bones 65
Rounded columella 4
Schizophrenia 1136
Seizures 584
Self Mutilation 14
Shawl scrotum 9
Short stature 514
Simple ear 41
Single transverse palmar crease 29
Sleep Apnea, Obstructive 10
Small cell carcinoma of lung 43
Small head 366
Speech Delay 110
Speech impairment 110
Spina bifida occulta 18
Squamous cell carcinoma 125
Squamous cell carcinoma of esophagus 72
Stereotyped Behavior 36
Stereotypic Movement Disorder 41
Strabismus 265
Strawberry nevus of skin 10
Sunken eyes 62
Syndactyly 88
Talon cusp 3
Tethered Cord Syndrome 7
Thick, flared eyebrows 39
Thin dental enamel 34
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Upswept frontal hair pattern 3
Upswept frontal hairline 3
Variable expressivity 149
Vascular ring 3
Ventricular Septal Defects 113
Wide anterior fontanel 44
hearing impairment 194
Disease Target Count P-value
ovarian cancer 8297 4.6e-04
astrocytoma 1113 2.0e-03
subependymal giant cell astrocytoma 2230 3.7e-03
osteosarcoma 7766 7.6e-03
Multiple myeloma 1296 1.1e-02

Expression

  Differential Expression (5)

Disease log2 FC p
ovarian cancer -1.200 4.6e-04
astrocytoma 1.700 2.0e-03
Multiple myeloma 1.067 1.1e-02
osteosarcoma -1.064 7.6e-03
subependymal giant cell astrocytoma -1.753 3.7e-03

Synonym

Accession Q92793 D3DUC9 O00147 Q16376 Q4LE28
Symbols CBP
RSTS
KAT3A
RSTS1

Gene

PDB

1JSP   2N1A   2KWF   1RDT   2RNY   4N3W   4N4F   1LIQ   1WO3   1WO4   1WO5   1WO6   1WO7   1ZOQ   2D82   2KJE   2L84   2L85   2LXS   2LXT   3DWY   3P1C   3P1D   3P1E   3P1F   3SVH   4A9K   4NR4   4NR5   4NR6   4NR7   4NYV   4NYW   4NYX   4OUF   4TQN   4TS8   4WHU   4YK0   5CGP   5DBM   5EIC   5ENG   5EP7   5GH9   5H85   5I83   5I86   5I89   5I8B   5I8G   5J0D   5JEM   5KTU   5KTW   5KTX   5LPJ   5LPL   5MPZ   5MQE   5MQG   5MQK   5NRW   5NU3   5TB6  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Protein-protein Interaction (2)

Gene RIF (262)

AA Sequence

MAENLLDGPPNPKRAKLSSPGFSANDSTDFGSLFDLENDLPDELIPNGGELGLLNSGNLVPDAASKHKQL      1 - 70
SELLRGGSGSSINPGIGNVSASSPVQQGLGGQAQGQPNSANMASLSAMGKSPLSQGDSSAPSLPKQAAST     71 - 140
SGPTPAASQALNPQAQKQVGLATSSPATSQTGPGICMNANFNQTHPGLLNSNSGHSLINQASQGQAQVMN    141 - 210
GSLGAAGRGRGAGMPYPTPAMQGASSSVLAETLTQVSPQMTGHAGLNTAQAGGMAKMGITGNTSPFGQPF    211 - 280
SQAGGQPMGATGVNPQLASKQSMVNSLPTFPTDIKNTSVTNVPNMSQMQTSVGIVPTQAIATGPTADPEK    281 - 350
RKLIQQQLVLLLHAHKCQRREQANGEVRACSLPHCRTMKNVLNHMTHCQAGKACQVAHCASSRQIISHWK    351 - 420
NCTRHDCPVCLPLKNASDKRNQQTILGSPASGIQNTIGSVGTGQQNATSLSNPNPIDPSSMQRAYAALGL    421 - 490
PYMNQPQTQLQPQVPGQQPAQPQTHQQMRTLNPLGNNPMNIPAGGITTDQQPPNLISESALPTSLGATNP    491 - 560
LMNDGSNSGNIGTLSTIPTAAPPSSTGVRKGWHEHVTQDLRSHLVHKLVQAIFPTPDPAALKDRRMENLV    561 - 630
AYAKKVEGDMYESANSRDEYYHLLAEKIYKIQKELEEKRRSRLHKQGILGNQPALPAPGAQPPVIPQAQP    631 - 700
VRPPNGPLSLPVNRMQVSQGMNSFNPMSLGNVQLPQAPMGPRAASPMNHSVQMNSMGSVPGMAISPSRMP    701 - 770
QPPNMMGAHTNNMMAQAPAQSQFLPQNQFPSSSGAMSVGMGQPPAQTGVSQGQVPGAALPNPLNMLGPQA    771 - 840
SQLPCPPVTQSPLHPTPPPASTAAGMPSLQHTTPPGMTPPQPAAPTQPSTPVSSSGQTPTPTPGSVPSAT    841 - 910
QTQSTPTVQAAAQAQVTPQPQTPVQPPSVATPQSSQQQPTPVHAQPPGTPLSQAAASIDNRVPTPSSVAS    911 - 980
AETNSQQPGPDVPVLEMKTETQAEDTEPDPGESKGEPRSEMMEEDLQGASQVKEETDIAEQKSEPMEVDE    981 - 1050
KKPEVKVEVKEEEESSSNGTASQSTSPSQPRKKIFKPEELRQALMPTLEALYRQDPESLPFRQPVDPQLL   1051 - 1120
GIPDYFDIVKNPMDLSTIKRKLDTGQYQEPWQYVDDVWLMFNNAWLYNRKTSRVYKFCSKLAEVFEQEID   1121 - 1190
PVMQSLGYCCGRKYEFSPQTLCCYGKQLCTIPRDAAYYSYQNRYHFCEKCFTEIQGENVTLGDDPSQPQT   1191 - 1260
TISKDQFEKKKNDTLDPEPFVDCKECGRKMHQICVLHYDIIWPSGFVCDNCLKKTGRPRKENKFSAKRLQ   1261 - 1330
TTRLGNHLEDRVNKFLRRQNHPEAGEVFVRVVASSDKTVEVKPGMKSRFVDSGEMSESFPYRTKALFAFE   1331 - 1400
EIDGVDVCFFGMHVQEYGSDCPPPNTRRVYISYLDSIHFFRPRCLRTAVYHEILIGYLEYVKKLGYVTGH   1401 - 1470
IWACPPSEGDDYIFHCHPPDQKIPKPKRLQEWYKKMLDKAFAERIIHDYKDIFKQATEDRLTSAKELPYF   1471 - 1540
EGDFWPNVLEESIKELEQEEEERKKEESTAASETTEGSQGDSKNAKKKNNKKTNKNKSSISRANKKKPSM   1541 - 1610
PNVSNDLSQKLYATMEKHKEVFFVIHLHAGPVINTLPPIVDPDPLLSCDLMDGRDAFLTLARDKHWEFSS   1611 - 1680
LRRSKWSTLCMLVELHTQGQDRFVYTCNECKHHVETRWHCTVCEDYDLCINCYNTKSHAHKMVKWGLGLD   1681 - 1750
DEGSSQGEPQSKSPQESRRLSIQRCIQSLVHACQCRNANCSLPSCQKMKRVVQHTKGCKRKTNGGCPVCK   1751 - 1820
QLIALCCYHAKHCQENKCPVPFCLNIKHKLRQQQIQHRLQQAQLMRRRMATMNTRNVPQQSLPSPTSAPP   1821 - 1890
GTPTQQPSTPQTPQPPAQPQPSPVSMSPAGFPSVARTQPPTTVSTGKPTSQVPAPPPPAQPPPAAVEAAR   1891 - 1960
QIEREAQQQQHLYRVNINNSMPPGRTGMGTPGSQMAPVSLNVPRPNQVSGPVMPSMPPGQWQQAPLPQQQ   1961 - 2030
PMPGLPRPVISMQAQAAVAGPRMPSVQPPRSISPSALQDLLRTLKSPSSPQQQQQVLNILKSNPQLMAAF   2031 - 2100
IKQRTAKYVANQPGMQPQPGLQSQPGMQPQPGMHQQPSLQNLNAMQAGVPRPGVPPQQQAMGGLNPQGQA   2101 - 2170
LNIMNPGHNPNMASMNPQYREMLRRQLLQQQQQQQQQQQQQQQQQQGSAGMAGGMAGHGQFQQPQGPGGY   2171 - 2240
PPAMQQQQRMQQHLPLQGSSMGQMAAQMGQLGQMGQPGLGADSTPNIQQALQQRILQQQQMKQQIGSPGQ   2241 - 2310
PNPMSPQQHMLSGQPQASHLPGQQIATSLSNQVRSPAPVQSPRPQSQPPHSSPSPRIQPQPSPHHVSPQT   2311 - 2380
GSPHPGLAVTMASSIDQGHLGNPEQSAMLPQLNTPSRSALSSELSLVGDTTGDTLEKFVEGL           2381 - 2442
//

Text Mined References (515)

PMID Year Title