Property Summary

Ligand Count 43
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 1016
Abnormal number of teeth 2
Abnormality of refraction 2
Acquired flat foot 72
Acquired scoliosis 281
Adenocarcinoma of lung (disorder) 60
Adenoid Cystic Carcinoma 99
Agenesis of corpus callosum 83
Agoraphobia 21
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Atrial Septal Defects 85
Auricular malformation 41
Autistic Disorder 364
Bifid uterus 4
Bilateral fifth finger clinodactyly 110
Bipolar Disorder 666
Birthmark 35
Bladder Neoplasm 112
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Broad hallux 29
Broad thumbs 28
Bushy eyebrows 49
Byzanthine arch palate 194
CHROMOSOME 16p13.3 DELETION SYNDROME, PROXIMAL 1
Cafe-au-Lait Spots 37
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cataract 297
Cervical vertebral abnormalities 6
Chorioretinal dystrophy 4
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital anomaly of the kidney 12
Congenital deafness 185
Congenital dislocation of radial head 14
Congenital ocular coloboma (disorder) 40
Constipation 181
Contracture 96
Contracture of joint 93
Convex nasal ridge 37
Corneal abnormalities 6
Cornela disease 6
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Deafness 198
Decreased projection of maxilla 66
Defective enamel matrix 35
Deficiency of upper jaw bones 66
Delayed bone age 136
Delayed speech and language development 112
Dens evaginatus 3
Dental Enamel Hypoplasia 43
Deviated nasal septum 2
Downward slant of palpebral fissure 158
Duane Retraction Syndrome 13
Dull intelligence 645
Dyschezia 135
Dysplasia of tooth enamel 35
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Electroencephalogram abnormal 101
Endogenous depression 8
Enophthalmos 75
Epilepsy 792
Exophthalmos 112
Extra cusp on inside of front tooth 3
Facial grimacing 3
Failure to gain weight 365
Feeding difficulties in infancy 175
Flared iliac wings 13
Flatfoot 73
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Gait, Unsteady 29
Glaucoma 239
Globe retraction and deviation on adduction 3
Hair whorls 3
Hallucal duplication 3
Hearing Loss, Partial 185
High axial triradius 2
Highly variable severity 157
Hirschsprung Disease 31
Hirsutism 47
Hyperactive behavior 91
Hyperplasia of foramen magnum 6
Hyperreflexia 209
Hypoplasia of the maxilla 66
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Hypotrophic maxilla 66
Impulsive Behavior 9
Inadequate arch length for tooth size 45
Increased circumference of foramen magnum 6
Increased diameter of foramen magnum 6
Isolated cases 72
Joint laxity 54
Keloid 37
Kidney Diseases 114
Lacrimal Duct Obstruction 16
Language Delay 112
Large foramen magnum 6
Laryngomalacia 14
Late fontanel closure 28
Legg-Calve-Perthes disease 14
Lens Opacities 231
Limited eye motility from Duane anomaly 3
Long eyelashes 37
Low anterior hairline 30
Low hanging columella 4
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Malocclusion 57
Mandibular hypoplasia 275
Maxillary retrognathia 66
Megacolon 29
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Microstomia 78
Mirror movements disorder 8
Muscle hypotonia 571
Narrow palate 20
Nasal bridge wide 236
Obesity, Abdominal 24
Obstruction of nasolacrimal duct 9
Papillary cystadenoma of the epididymis 3
Partial/complete duplication of the phalanges of the hallux 3
Patent ductus arteriosus 90
Pectus excavatum 100
Pediatric failure to thrive 365
Penile hypospadias 106
Phonophobia 11
Plantar crease between first and second toes 2
Polydactyly 107
Polyhydramnios 108
Poor coordination 11
Poor school performance 645
Postnatal growth retardation 57
Premature development of the breasts 5
Prominent eyes 96
Prominent fingertip pads 6
Prominent globes 96
Protruding eyes 96
Radial deviation of thumb terminal phalanx 2
Recurrent upper respiratory tract infection 21
Reduced concentration span 9
Respiratory distress 43
Retrognathia 54
Retrusion of upper jaw bones 66
Rounded columella 4
Schizophrenia 1160
Seizures 596
Self Mutilation 14
Shawl scrotum 9
Short stature 531
Simple ear 41
Single transverse palmar crease 29
Sleep Apnea, Obstructive 10
Small cell carcinoma of lung 45
Small head 374
Speech Delay 112
Speech impairment 112
Spina bifida occulta 19
Squamous cell carcinoma 129
Squamous cell carcinoma of esophagus 77
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Strawberry nevus of skin 10
Sunken eyes 63
Syndactyly 88
Talon cusp 3
Tethered Cord Syndrome 7
Thick, flared eyebrows 41
Thin dental enamel 35
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Upswept frontal hair pattern 3
Upswept frontal hairline 3
Variable expressivity 157
Vascular ring 3
Ventricular Septal Defects 119
Wide anterior fontanel 44
hearing impairment 199
Disease Target Count P-value
ovarian cancer 8520 4.6e-04
astrocytoma 1146 2.0e-03
subependymal giant cell astrocytoma 2287 3.7e-03
osteosarcoma 7950 7.6e-03
Multiple myeloma 1332 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