Property Summary

NCBI Gene PubMed Count 35
PubMed Score 84.17
PubTator Score 42.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Intellectual disability 1016
Celiac disease 116
Brachydactyly 156
Abnormality of the soft palate 3
Adenoid Cystic Carcinoma 99
Bilateral fifth finger clinodactyly 110
Bipartite clavicle 5
Broad flat nasal bridge 236
Broad thumbs 28
Bulbous nasal tip 48
Bulbous nose 48
Cognitive delay 608
Communication delay 2
Cone-shaped epiphyses of phalanges 15
Congenital hypoplasia of clavicle 18
Constipation 181
Curvature of little finger 110
Deficit in expressive language 2
Delayed bone age 136
Downturned corners of mouth 48
Dull intelligence 645
Dyschezia 135
Enlarged joints 3
Enophthalmos 75
Expressive language delay 2
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flexion contracture of proximal interphalangeal joint 75
Generalized hirsutism 36
Global developmental delay 608
High pitched voice 23
Hirsutism 47
Hypernasal voice 39
Hyperplasia of columella 4
Hyperplasia of nose 23
Hypertrophy of nose 23
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Joint laxity 54
Joint stiffness 84
Large nose 23
Long eyelashes 37
Low intelligence 645
Low posterior hairline 52
Macrostomia 72
Malabsorption 82
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Nasal bridge wide 236
Nasal voice 39
Poor school performance 645
Posteriorly rotated ear 61
Potato nose 48
Pseudoarthrosis of clavicle 5
Recurrent otitis media 42
Short neck 140
Short philtrum 53
Short stature 531
Smooth philtrum 43
Speech Disorders 58
Sunken eyes 63
Thin hypoplastic alae nasi 51
Thin lips 49
Triangular face 58
Wide columella 4
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.9
Liver cancer 604 0.0 0.5

Expression

Gene RIF (17)

AA Sequence

MQSSPSPAHPQLPVLQTQMVSDGMTGSNPVSPASSSSPASSGAGGISPQHIAQDSSLDGPPGPPDGATVP      1 - 70
LEGFSLSQAADLANKGPKWEKSHAEIAEQAKHEAEIETRIAELRKEGFWSLKRLPKVPEPPRPKGHWDYL     71 - 140
CEEMQWLSADFAQERRWKRGVARKVVRMVIRHHEEQRQKEERARREEQAKLRRIASTMAKDVRQFWSNVE    141 - 210
KVVQFKQQSRLEEKRKKALDLHLDFIVGQTEKYSDLLSQSLNQPLTSSKAGSSPCLGSSSAASSPPPPAS    211 - 280
RLDDEDGDFQPQEDEEEDDEETIEVEEQQEGNDAEAQRREIELLRREGELPLEELLRSLPPQLLEGPSSP    281 - 350
SQTPSSHDSDTRDGPEEGAEEEPPQVLEIKPPPSAVTQRNKQPWHPDEDDEEFTANEEEAEDEEDTIAAE    351 - 420
EQLEGEVDHAMELSELAREGELSMEELLQQYAGAYAPGSGSSEDEDEDEVDANSSDCEPEGPVEAEEPPQ    421 - 490
EDSSSQSDSVEDRSEDEEDEHSEEEETSGSSASEESESEESEDAQSQSQADEEEEDDDFGVEYLLARDEE    491 - 560
QSEADAGSGPPTPGPTTLGPKKEITDIAAAAESLQPKGYTLATTQVKTPIPLLLRGQLREYQHIGLDWLV    561 - 630
TMYEKKLNGILADEMGLGKTIQTISLLAHLACEKGNWGPHLIIVPTSVMLNWEMELKRWCPSFKILTYYG    631 - 700
AQKERKLKRQGWTKPNAFHVCITSYKLVLQDHQAFRRKNWRYLILDEAQNIKNFKSQRWQSLLNFNSQRR    701 - 770
LLLTGTPLQNSLMELWSLMHFLMPHVFQSHREFKEWFSNPLTGMIEGSQEYNEGLVKRLHKVLRPFLLRR    771 - 840
VKVDVEKQMPKKYEHVIRCRLSKRQRCLYDDFMAQTTTKETLATGHFMSVINILMQLRKVCNHPNLFDPR    841 - 910
PVTSPFITPGICFSTASLVLRATDVHPLQRIDMGRFDLIGLEGRVSRYEADTFLPRHRLSRRVLLEVATA    911 - 980
PDPPPRPKPVKMKVNRMLQPVPKQEGRTVVVVNNPRAPLGPVPVRPPPGPELSAQPTPGPVPQVLPASLM    981 - 1050
VSASPAGPPLIPASRPPGPVLLPPLQPNSGSLPQVLPSPLGVLSGTSRPPTPTLSLKPTPPAPVRLSPAP   1051 - 1120
PPGSSSLLKPLTVPPGYTFPPAAATTTSTTTATATTTAVPAPTPAPQRLILSPDMQARLPSGEVVSIGQL   1121 - 1190
ASLAQRPVANAGGSKPLTFQIQGNKLTLTGAQVRQLAVGQPRPLQRNVVHLVSAGGQHHLISQPAHVALI   1191 - 1260
QAVAPTPGPTPVSVLPSSTPSTTPAPTGLSLPLAANQVPPTMVNNTGVVKIVVRQAPRDGLTPVPPLAPA   1261 - 1330
PRPPSSGLPAVLNPRPTLTPGRLPTPTLGTARAPMPTPTLVRPLLKLVHSPSPEVSASAPGAAPLTISSP   1331 - 1400
LHVPSSLPGPASSPMPIPNSSPLASPVSSTVSVPLSSSLPISVPTTLPAPASAPLTIPISAPLTVSASGP   1401 - 1470
ALLTSVTPPLAPVVPAAPGPPSLAPSGASPSASALTLGLATAPSLSSSQTPGHPLLLAPTSSHVPGLNST   1471 - 1540
VAPACSPVLVPASALASPFPSAPNPAPAQASLLAPASSASQALATPLAPMAAPQTAILAPSPAPPLAPLP   1541 - 1610
VLAPSPGAAPVLASSQTPVPVMAPSSTPGTSLASASPVPAPTPVLAPSSTQTMLPAPVPSPLPSPASTQT   1611 - 1680
LALAPALAPTLGGSSPSQTLSLGTGNPQGPFPTQTLSLTPASSLVPTPAQTLSLAPGPPLGPTQTLSLAP   1681 - 1750
APPLAPASPVGPAPAHTLTLAPASSSASLLAPASVQTLTLSPAPVPTLGPAAAQTLALAPASTQSPASQA   1751 - 1820
SSLVVSASGAAPLPVTMVSRLPVSKDEPDTLTLRSGPPSPPSTATSFGGPRPRRQPPPPPRSPFYLDSLE   1821 - 1890
EKRKRQRSERLERIFQLSEAHGALAPVYGTEVLDFCTLPQPVASPIGPRSPGPSHPTFWTYTEAAHRAVL   1891 - 1960
FPQQRLDQLSEIIERFIFVMPPVEAPPPSLHACHPPPWLAPRQAAFQEQLASELWPRARPLHRIVCNMRT   1961 - 2030
QFPDLRLIQYDCGKLQTLAVLLRQLKAEGHRVLIFTQMTRMLDVLEQFLTYHGHLYLRLDGSTRVEQRQA   2031 - 2100
LMERFNADKRIFCFILSTRSGGVGVNLTGADTVVFYDSDWNPTMDAQAQDRCHRIGQTRDVHIYRLISER   2101 - 2170
TVEENILKKANQKRMLGDMAIEGGNFTTAYFKQQTIRELFDMPLEEPSSSSVPSAPEEEEETVASKQTHI   2171 - 2240
LEQALCRAEDEEDIRAATQAKAEQVAELAEFNENDGFPAGEGEEAGRPGAEDEEMSRAEQEIAALVEQLT   2241 - 2310
PIERYAMKFLEASLEEVSREELKQAEEQVEAARKDLDQAKEEVFRLPQEEEEGPGAGDESSCGTGGGTHR   2311 - 2380
RSKKAKAPERPGTRVSERLRGARAETQGANHTPVISAHQTRSTTTPPRCSPARERVPRPAPRPRPTPASA   2381 - 2450
PAAIPALVPVPVSAPVPISAPNPITILPVHILPSPPPPSQIPPCSSPACTPPPACTPPPAHTPPPAQTCL   2451 - 2520
VTPSSPLLLGPPSVPISASVTNLPLGLRPEAELCAQALASPESLELASVASSETSSLSLVPPKDLLPVAV   2521 - 2590
EILPVSEKNLSLTPSAPSLTLEAGSIPNGQEQEAPDSAEGTTLTVLPEGEELPLCVSESNGLELPPSAAS   2591 - 2660
DEPLQEPLEADRTSEELTEAKTPTSSPEKPQELVTAEVAAPSTSSSATSSPEGPSPARPPRRRTSADVEI   2661 - 2730
RGQGTGRPGQPPGPKVLRKLPGRLVTVVEEKELVRRRRQQRGAASTLVPGVSETSASPGSPSVRSMSGPE   2731 - 2800
SSPPIGGPCEAAPSSSLPTPPQQPFIARRHIELGVTGGGSPENGDGALLAITPPAVKRRRGRPPKKNRSP   2801 - 2870
ADAGRGVDEAPSSTLKGKTNGADPVPGPETLIVADPVLEPQLIPGPQPLGPQPVHRPNPLLSPVEKRRRG   2871 - 2940
RPPKARDLPIPGTISSAGDGNSESRTQPPPHPSPLTPLPPLLVCPTATVANTVTTVTISTSPPKRKRGRP   2941 - 3010
PKNPPSPRPSQLPVLDRDSTSVLESCGLGRRRQPQGQGESEGSSSDEDGSRPLTRLARLRLEAEGMRGRK   3011 - 3080
SGGSMVVAVIQDDLDLADSGPGGLELTPPVVSLTPKLRSTRLRPGSLVPPLETEKLPRKRAGAPVGGSPG   3081 - 3150
LAKRGRLQPPSPLGPEGSVEESEAEASGEEEEGDGTPRRRPGPRRLVGTTNQGDQRILRSSAPPSLAGPA   3151 - 3220
VSHRGRKAKT                                                               3221 - 3230
//

Text Mined References (37)

PMID Year Title