Property Summary

NCBI Gene PubMed Count 90
PubMed Score 118.13
PubTator Score 99.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Intellectual disability 1016
Abnormal dermatoglyphic pattern 24
Abnormal vertebral bodies 16
Acquired scoliosis 281
Anemia, Hemolytic 55
Anoperineal fistula 2
Anus, Imperforate 46
Aortic coarctation 30
Atrial Septal Defects 85
Autoimmune thrombocytopenia 22
Birthmark 35
Bladder Neoplasm 112
Blepharoptosis 231
Blue sclera 32
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Butterfly vertebrae 7
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Cerebral atrophy 178
Cleft Palate 271
Cognitive delay 608
Conductive hearing loss 123
Congenital anomaly of spine 16
Congenital deafness 185
Congenital hemivertebra 25
Congenital hypoplasia of penis 176
Congenital hypothyroidism 26
Congenital malrotation of intestine 16
Crossed fused renal ectopia 2
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased size of teeth 62
Decreased width of tooth 59
Dental abnormalities 60
Depressed nasal tip 11
Diffuse large B-cell lymphoma 39
Dilated ventricles (finding) 121
Dull intelligence 645
Epilepsy 792
Eversion of lateral third of lower eyelids 4
Failure to gain weight 365
Feeding difficulties 127
Feeding difficulties in infancy 175
Global developmental delay 608
Hearing Loss, Partial 185
Heart Septal Defects 24
Hip Dislocation, Congenital 48
Hirsutism 47
Hydrocephalus 152
Hypodontia 81
Hypoplasia of columella 7
Idiopathic thrombocytopenia 22
Immune thrombocytopenic purpura 24
Joint hyperflexibility 78
Kabuki make-up syndrome 4
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Laterally sparse eyebrows 12
Long eyelashes 37
Long palpebral fissure 17
Low intelligence 645
Macrotia 87
Malabsorption 82
Male infertility 206
Mammary Neoplasms 425
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Multiple vertebral anomalies 16
Muscle hypotonia 571
Nasal bridge wide 236
Obstruction of pelviureteric junction 8
Pediatric failure to thrive 365
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Premature development of the breasts 5
Prominent ear 56
Prominent fingertip pads 6
Protruding ears 56
Range of joint movement increased 32
Recurrent aspiration pneumonia 4
Recurrent infections 48
Recurrent otitis media 42
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short columella 7
Short fifth finger 9
Short middle phalanges 12
Short stature 531
Small head 374
Sparse eyebrow 42
Squamous cell carcinoma of esophagus 77
Strabismus 270
Stricture of anus 13
T-Cell Lymphoma 13
Thick, flared eyebrows 41
Tooth Abnormalities 69
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Widely spaced teeth 31
hearing impairment 199
Disease Target Count
Kabuki syndrome 1 2

Expression

Gene RIF (76)

AA Sequence

MDSQKLAGEDKDSEPAADGPAASEDPSATESDLPNPHVGEVSVLSSGSPRLQETPQDCSGGPVRRCALCN      1 - 70
CGEPSLHGQRELRRFELPFDWPRCPVVSPGGSPGPNEAVLPSEDLSQIGFPEGLTPAHLGEPGGSCWAHH     71 - 140
WCAAWSAGVWGQEGPELCGVDKAIFSGISQRCSHCTRLGASIPCRSPGCPRLYHFPCATASGSFLSMKTL    141 - 210
QLLCPEHSEGAAYLEEARCAVCEGPGELCDLFFCTSCGHHYHGACLDTALTARKRAGWQCPECKVCQACR    211 - 280
KPGNDSKMLVCETCDKGYHTFCLKPPMEELPAHSWKCKACRVCRACGAGSAELNPNSEWFENYSLCHRCH    281 - 350
KAQGGQTIRSVAEQHTPVCSRFSPPEPGDTPTDEPDALYVACQGQPKGGHVTSMQPKEPGPLQCEAKPLG    351 - 420
KAGVQLEPQLEAPLNEEMPLLPPPEESPLSPPPEESPTSPPPEASRLSPPPEELPASPLPEALHLSRPLE    421 - 490
ESPLSPPPEESPLSPPPESSPFSPLEESPLSPPEESPPSPALETPLSPPPEASPLSPPFEESPLSPPPEE    491 - 560
LPTSPPPEASRLSPPPEESPMSPPPEESPMSPPPEASRLFPPFEESPLSPPPEESPLSPPPEASRLSPPP    561 - 630
EDSPMSPPPEESPMSPPPEVSRLSPLPVVSRLSPPPEESPLSPPPEESPTSPPPEASRLSPPPEDSPTSP    631 - 700
PPEDSPASPPPEDSLMSLPLEESPLLPLPEEPQLCPRSEGPHLSPRPEEPHLSPRPEEPHLSPQAEEPHL    701 - 770
SPQPEEPCLCAVPEEPHLSPQAEGPHLSPQPEELHLSPQTEEPHLSPVPEEPCLSPQPEESHLSPQSEEP    771 - 840
CLSPRPEESHLSPELEKPPLSPRPEKPPEEPGQCPAPEELPLFPPPGEPSLSPLLGEPALSEPGEPPLSP    841 - 910
LPEELPLSPSGEPSLSPQLMPPDPLPPPLSPIITAAAPPALSPLGELEYPFGAKGDSDPESPLAAPILET    911 - 980
PISPPPEANCTDPEPVPPMILPPSPGSPVGPASPILMEPLPPQCSPLLQHSLVPQNSPPSQCSPPALPLS    981 - 1050
VPSPLSPIGKVVGVSDEAELHEMETEKVSEPECPALEPSATSPLPSPMGDLSCPAPSPAPALDDFSGLGE   1051 - 1120
DTAPLDGIDAPGSQPEPGQTPGSLASELKGSPVLLDPEELAPVTPMEVYPECKQTAGQGSPCEEQEEPRA   1121 - 1190
PVAPTPPTLIKSDIVNEISNLSQGDASASFPGSEPLLGSPDPEGGGSLSMELGVSTDVSPARDEGSLRLC   1191 - 1260
TDSLPETDDSLLCDAGTAISGGKAEGEKGRRRSSPARSRIKQGRSSSFPGRRRPRGGAHGGRGRGRARLK   1261 - 1330
STASSIETLVVADIDSSPSKEEEEEDDDTMQNTVVLFSNTDKFVLMQDMCVVCGSFGRGAEGHLLACSQC   1331 - 1400
SQCYHPYCVNSKITKVMLLKGWRCVECIVCEVCGQASDPSRLLLCDDCDISYHTYCLDPPLLTVPKGGWK   1401 - 1470
CKWCVSCMQCGAASPGFHCEWQNSYTHCGPCASLVTCPICHAPYVEEDLLIQCRHCERWMHAGCESLFTE   1471 - 1540
DDVEQAADEGFDCVSCQPYVVKPVAPVAPPELVPMKVKEPEPQYFRFEGVWLTETGMALLRNLTMSPLHK   1541 - 1610
RRQRRGRLGLPGEAGLEGSEPSDALGPDDKKDGDLDTDELLKGEGGVEHMECEIKLEGPVSPDVEPGKEE   1611 - 1680
TEESKKRKRKPYRPGIGGFMVRQRKSHTRTKKGPAAQAEVLSGDGQPDEVIPADLPAEGAVEQSLAEGDE   1681 - 1750
KKKQQRRGRKKSKLEDMFPAYLQEAFFGKELLDLSRKALFAVGVGRPSFGLGTPKAKGDGGSERKELPTS   1751 - 1820
QKGDDGPDIADEESRGLEGKADTPGPEDGGVKASPVPSDPEKPGTPGEGMLSSDLDRISTEELPKMESKD   1821 - 1890
LQQLFKDVLGSEREQHLGCGTPGLEGSRTPLQRPFLQGGLPLGNLPSSSPMDSYPGLCQSPFLDSRERGG   1891 - 1960
FFSPEPGEPDSPWTGSGGTTPSTPTTPTTEGEGDGLSYNQRSLQRWEKDEELGQLSTISPVLYANINFPN   1961 - 2030
LKQDYPDWSSRCKQIMKLWRKVPAADKAPYLQKAKDNRAAHRINKVQKQAESQINKQTKVGDIARKTDRP   2031 - 2100
ALHLRIPPQPGALGSPPPAAAPTIFIGSPTTPAGLSTSADGFLKPPAGSVPGPDSPGELFLKLPPQVPAQ   2101 - 2170
VPSQDPFGLAPAYPLEPRFPTAPPTYPPYPSPTGAPAQPPMLGASSRPGAGQPGEFHTTPPGTPRHQPST   2171 - 2240
PDPFLKPRCPSLDNLAVPESPGVGGGKASEPLLSPPPFGESRKALEVKKEELGASSPSYGPPNLGFVDSP   2241 - 2310
SSGTHLGGLELKTPDVFKAPLTPRASQVEPQSPGLGLRPQEPPPAQALAPSPPSHPDIFRPGSYTDPYAQ   2311 - 2380
PPLTPRPQPPPPESCCALPPRSLPSDPFSRVPASPQSQSSSQSPLTPRPLSAEAFCPSPVTPRFQSPDPY   2381 - 2450
SRPPSRPQSRDPFAPLHKPPRPQPPEVAFKAGSLAHTSLGAGGFPAALPAGPAGELHAKVPSGQPPNFVR   2451 - 2520
SPGTGAFVGTPSPMRFTFPQAVGEPSLKPPVPQPGLPPPHGINSHFGPGPTLGKPQSTNYTVATGNFHPS   2521 - 2590
GSPLGPSSGSTGESYGLSPLRPPSVLPPPAPDGSLPYLSHGASQRSGITSPVEKREDPGTGMGSSLATAE   2591 - 2660
LPGTQDPGMSGLSQTELEKQRQRQRLRELLIRQQIQRNTLRQEKETAAAAAGAVGPPGSWGAEPSSPAFE   2661 - 2730
QLSRGQTPFAGTQDKSSLVGLPPSKLSGPILGPGSFPSDDRLSRPPPPATPSSMDVNSRQLVGGSQAFYQ   2731 - 2800
RAPYPGSLPLQQQQQQLWQQQQATAATSMRFAMSARFPSTPGPELGRQALGSPLAGISTRLPGPGEPVPG   2801 - 2870
PAGPAQFIELRHNVQKGLGPGGTPFPGQGPPQRPRFYPVSEDPHRLAPEGLRGLAVSGLPPQKPSAPPAP   2871 - 2940
ELNNSLHPTPHTKGPTLPTGLELVNRPPSSTELGRPNPLALEAGKLPCEDPELDDDFDAHKALEDDEELA   2941 - 3010
HLGLGVDVAKGDDELGTLENLETNDPHLDDLLNGDEFDLLAYTDPELDTGDKKDIFNEHLRLVESANEKA   3011 - 3080
EREALLRGVEPGPLGPEERPPPAADASEPRLASVLPEVKPKVEEGGRHPSPCQFTIATPKVEPAPAANSL   3081 - 3150
GLGLKPGQSMMGSRDTRMGTGPFSSSGHTAEKASFGATGGPPAHLLTPSPLSGPGGSSLLEKFELESGAL   3151 - 3220
TLPGGPAASGDELDKMESSLVASELPLLIEDLLEHEKKELQKKQQLSAQLQPAQQQQQQQQQHSLLSAPG   3221 - 3290
PAQAMSLPHEGSSPSLAGSQQQLSLGLAGARQPGLPQPLMPTQPPAHALQQRLAPSMAMVSNQGHMLSGQ   3291 - 3360
HGGQAGLVPQQSSQPVLSQKPMGTMPPSMCMKPQQLAMQQQLANSFFPDTDLDKFAAEDIIDPIAKAKMV   3361 - 3430
ALKGIKKVMAQGSIGVAPGMNRQQVSLLAQRLSGGPSSDLQNHVAAGSGQERSAGDPSQPRPNPPTFAQG   3431 - 3500
VINEADQRQYEEWLFHTQQLLQMQLKVLEEQIGVHRKSRKALCAKQRTAKKAGREFPEADAEKLKLVTEQ   3501 - 3570
QSKIQKQLDQVRKQQKEHTNLMAEYRNKQQQQQQQQQQQQQQHSAVLALSPSQSPRLLTKLPGQLLPGHG   3571 - 3640
LQPPQGPPGGQAGGLRLTPGGMALPGQPGGPFLNTALAQQQQQQHSGGAGSLAGPSGGFFPGNLALRSLG   3641 - 3710
PDSRLLQERQLQLQQQRMQLAQKLQQQQQQQQQQQHLLGQVAIQQQQQQGPGVQTNQALGPKPQGLMPPS   3711 - 3780
SHQGLLVQQLSPQPPQGPQGMLGPAQVAVLQQQHPGALGPQGPHRQVLMTQSRVLSSPQLAQQGQGLMGH   3781 - 3850
RLVTAQQQQQQQQHQQQGSMAGLSHLQQSLMSHSGQPKLSAQPMGSLQQLQQQQQLQQQQQLQQQQQQQL   3851 - 3920
QQQQQLQQQQLQQQQQQQQLQQQQQQQLQQQQQQLQQQQQQQQQQFQQQQQQQQMGLLNQSRTLLSPQQQ   3921 - 3990
QQQQVALGPGMPAKPLQHFSSPGALGPTLLLTGKEQNTVDPAVSSEATEGPSTHQGGPLAIGTTPESMAT   3991 - 4060
EPGEVKPSLSGDSQLLLVQPQPQPQPSSLQLQPPLRLPGQQQQQVSLLHTAGGGSHGQLGSGSSSEASSV   4061 - 4130
PHLLAQPSVSLGDQPGSMTQNLLGPQQPMLERPMQNNTGPQPPKPGPVLQSGQGLPGVGIMPTVGQLRAQ   4131 - 4200
LQGVLAKNPQLRHLSPQQQQQLQALLMQRQLQQSQAVRQTPPYQEPGTQTSPLQGLLGCQPQLGGFPGPQ   4201 - 4270
TGPLQELGAGPRPQGPPRLPAPPGALSTGPVLGPVHPTPPPSSPQEPKRPSQLPSPSSQLPTEAQLPPTH   4271 - 4340
PGTPKPQGPTLEPPPGRVSPAAAQLADTLFSKGLGPWDPPDNLAETQKPEQSSLVPGHLDQVNGQVVPEA   4341 - 4410
SQLSIKQEPREEPCALGAQSVKREANGEPIGAPGTSNHLLLAGPRSEAGHLLLQKLLRAKNVQLSTGRGS   4411 - 4480
EGLRAEINGHIDSKLAGLEQKLQGTPSNKEDAAARKPLTPKPKRVQKASDRLVSSRKKLRKEDGVRASEA   4481 - 4550
LLKQLKQELSLLPLTEPAITANFSLFAPFGSGCPVNGQSQLRGAFGSGALPTGPDYYSQLLTKNNLSNPP   4551 - 4620
TPPSSLPPTPPPSVQQKMVNGVTPSEELGEHPKDAASARDSERALRDTSEVKSLDLLAALPTPPHNQTED   4621 - 4690
VRMESDEDSDSPDSIVPASSPESILGEEAPRFPHLGSGRWEQEDRALSPVIPLIPRASIPVFPDTKPYGA   4691 - 4760
LGLEVPGKLPVTTWEKGKGSEVSVMLTVSAAAAKNLNGVMVAVAELLSMKIPNSYEVLFPESPARAGTEP   4761 - 4830
KKGEAEGPGGKEKGLEGKSPDTGPDWLKQFDAVLPGYTLKSQLDILSLLKQESPAPEPPTQHSYTYNVSN   4831 - 4900
LDVRQLSAPPPEEPSPPPSPLAPSPASPPTEPLVELPTEPLAEPPVPSPLPLASSPESARPKPRARPPEE   4901 - 4970
GEDSRPPRLKKWKGVRWKRLRLLLTIQKGSGRQEDEREVAEFMEQLGTALRPDKVPRDMRRCCFCHEEGD   4971 - 5040
GATDGPARLLNLDLDLWVHLNCALWSTEVYETQGGALMNVEVALHRGLLTKCSLCQRTGATSSCNRMRCP   5041 - 5110
NVYHFACAIRAKCMFFKDKTMLCPMHKIKGPCEQELSSFAVFRRVYIERDEVKQIASIIQRGERLHMFRV   5111 - 5180
GGLVFHAIGQLLPHQMADFHSATALYPVGYEATRIYWSLRTNNRRCCYRCSIGENNGRPEFVIKVIEQGL   5181 - 5250
EDLVFTDASPQAVWNRIIEPVAAMRKEADMLRLFPEYLKGEELFGLTVHAVLRIAESLPGVESCQNYLFR   5251 - 5320
YGRHPLMELPLMINPTGCARSEPKILTHYKRPHTLNSTSMSKAYQSTFTGETNTPYSKQFVHSKSSQYRR   5321 - 5390
LRTEWKNNVYLARSRIQGLGLYAAKDLEKHTMVIEYIGTIIRNEVANRREKIYEEQNRGIYMFRINNEHV   5391 - 5460
IDATLTGGPARYINHSCAPNCVAEVVTFDKEDKIIIISSRRIPKGEELTYDYQFDFEDDQHKIPCHCGAW   5461 - 5530
NCRKWMN                                                                  5531 - 5537
//

Text Mined References (106)

PMID Year Title