Property Summary

NCBI Gene PubMed Count 112
PubMed Score 337.22
PubTator Score 236.51

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
ANONYCHIA 20
Abnormal blistering of the skin 54
Abnormality of the stomach 2
Anemia 365
Aplasia Cutis Congenita 14
Aplasia of the bladder 3
Arthrogryposis 54
Atrophic scar 18
Autosomal recessive predisposition 1442
Axillary pterygia 6
Blister of skin 54
Congenital pyloric atresia 3
Congenital scar 13
Congenital small ears 48
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Defective enamel matrix 35
Deglutition Disorders 132
Dehydration 40
Dental Enamel Hypoplasia 43
Dental caries 164
Diarrhea, intractable 6
Difficulty walking up stairs 12
Disorder of the genitourinary system 6
Dysplasia of tooth enamel 35
Dystrophia unguium 53
Ecchymosis 66
Ectropion 38
Elevated creatine kinase 110
Elevated maternal serum alpha-fetoprotein 4
Enophthalmos 75
Esophageal atresia 43
Failure to gain weight 365
Flexion contracture 93
Flexion contractures of joints 93
Fragile skin 18
Generalized muscle weakness 57
Genitourinary dysplasia 6
Glomerulosclerosis (disorder) 7
Gowers sign 24
Gowers sign present 24
Hemoglobin low 124
Hydronephrosis 89
Increased connective tissue 7
Increased tendency to bruise 66
Junctional split 6
Keratitis 62
Lumbar lordosis 35
Milium Cyst 16
Motor delay 147
Muscle biopsy shows dystrophic changes 39
Muscular dystrophy 75
Nail dysplasia 52
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Onychogryposis 13
Onychogryposis of toenails 2
Oral mucosal blistering 10
Palmoplantar keratosis 74
Pediatric failure to thrive 365
Plantar hyperkeratosis 7
Polyhydramnios 108
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
Punctate epithelial keratitis 2
RENAL ADYSPLASIA 25
Rapidly progressive 27
Rapidly progressive disorder 27
Renal dysplasia 28
Respiratory Distress Syndrome 15
Rotting teeth 73
Scarring alopecia of scalp 13
Septicemia 6
Short stature 531
Skeletal muscle atrophy 139
Skin Erosion 12
Skin bulla 54
Skin fragility with non-scarring blistering 1
Sunken eyes 63
Thin dental enamel 35
Thin hypoplastic alae nasi 51
Ureterocele 14
Urethral Stricture 18
Urogenital Abnormalities 9
muscle degeneration 139
Disease Target Count P-value
non-small cell lung cancer 2890 2.1e-06
pancreatic cancer 2398 2.3e-04
oligodendroglioma 2850 1.1e-03
ependymoma 4679 2.5e-03
active Crohn's disease 922 3.3e-03
astrocytic glioma 2597 4.7e-03
osteosarcoma 7950 1.2e-02
COPD 118 2.6e-02
glioblastoma 5792 3.4e-02
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 6.726 3.4
limb-girdle muscular dystrophy 37 0.0 4.0

Expression

  Differential Expression (9)

Disease log2 FC p
active Crohn's disease -1.446 3.3e-03
astrocytic glioma 2.700 4.7e-03
COPD -1.300 2.6e-02
ependymoma 2.800 2.5e-03
glioblastoma 1.100 3.4e-02
non-small cell lung cancer 1.053 2.1e-06
oligodendroglioma 2.500 1.1e-03
osteosarcoma 1.400 1.2e-02
pancreatic cancer 1.400 2.3e-04

 GO Process (1)

Gene RIF (47)

AA Sequence

MVAGMLMPRDQLRAIYEVLFREGVMVAKKDRRPRSLHPHVPGVTNLQVMRAMASLRARGLVRETFAWCHF      1 - 70
YWYLTNEGIAHLRQYLHLPPEIVPASLQRVRRPVAMVMPARRTPHVQAVQGPLGSPPKRGPLPTEEQRVY     71 - 140
RRKELEEVSPETPVVPATTQRTLARPGPEPAPATDERDRVQKKTFTKWVNKHLIKAQRHISDLYEDLRDG    141 - 210
HNLISLLEVLSGDSLPREKGRMRFHKLQNVQIALDYLRHRQVKLVNIRNDDIADGNPKLTLGLIWTIILH    211 - 280
FQISDIQVSGQSEDMTAKEKLLLWSQRMVEGYQGLRCDNFTSSWRDGRLFNAIIHRHKPLLIDMNKVYRQ    281 - 350
TNLENLDQAFSVAERDLGVTRLLDPEDVDVPQPDEKSIITYVSSLYDAMPRVPDVQDGVRANELQLRWQE    351 - 420
YRELVLLLLQWMRHHTAAFEERRFPSSFEEIEILWSQFLKFKEMELPAKEADKNRSKGIYQSLEGAVQAG    421 - 490
QLKVPPGYHPLDVEKEWGKLHVAILEREKQLRSEFERLECLQRIVTKLQMEAGLCEEQLNQADALLQSDV    491 - 560
RLLAAGKVPQRAGEVERDLDKADSMIRLLFNDVQTLKDGRHPQGEQMYRRVYRLHERLVAIRTEYNLRLK    561 - 630
AGVAAPATQVAQVTLQSVQRRPELEDSTLRYLQDLLAWVEENQHRVDGAEWGVDLPSVEAQLGSHRGLHQ    631 - 700
SIEEFRAKIERARSDEGQLSPATRGAYRDCLGRLDLQYAKLLNSSKARLRSLESLHSFVAAATKELMWLN    701 - 770
EKEEEEVGFDWSDRNTNMTAKKESYSALMRELELKEKKIKELQNAGDRLLREDHPARPTVESFQAALQTQ    771 - 840
WSWMLQLCCCIEAHLKENAAYFQFFSDVREAEGQLQKLQEALRRKYSCDRSATVTRLEDLLQDAQDEKEQ    841 - 910
LNEYKGHLSGLAKRAKAVVQLKPRHPAHPMRGRLPLLAVCDYKQVEVTVHKGDECQLVGPAQPSHWKVLS    911 - 980
SSGSEAAVPSVCFLVPPPNQEAQEAVTRLEAQHQALVTLWHQLHVDMKSLLAWQSLRRDVQLIRSWSLAT    981 - 1050
FRTLKPEEQRQALHSLELHYQAFLRDSQDAGGFGPEDRLMAEREYGSCSHHYQQLLQSLEQGAQEESRCQ   1051 - 1120
RCISELKDIRLQLEACETRTVHRLRLPLDKEPARECAQRIAEQQKAQAEVEGLGKGVARLSAEAEKVLAL   1121 - 1190
PEPSPAAPTLRSELELTLGKLEQVRSLSAIYLEKLKTISLVIRGTQGAEEVLRAHEEQLKEAQAVPATLP   1191 - 1260
ELEATKASLKKLRAQAEAQQPTFDALRDELRGAQEVGERLQQRHGERDVEVERWRERVAQLLERWQAVLA   1261 - 1330
QTDVRQRELEQLGRQLRYYRESADPLGAWLQDARRRQEQIQAMPLADSQAVREQLRQEQALLEEIERHGE   1331 - 1400
KVEECQRFAKQYINAIKDYELQLVTYKAQLEPVASPAKKPKVQSGSESVIQEYVDLRTHYSELTTLTSQY   1401 - 1470
IKFISETLRRMEEEERLAEQQRAEERERLAEVEAALEKQRQLAEAHAQAKAQAEREAKELQQRMQEEVVR   1471 - 1540
REEAAVDAQQQKRSIQEELQQLRQSSEAEIQAKARQAEAAERSRLRIEEEIRVVRLQLEATERQRGGAEG   1541 - 1610
ELQALRARAEEAEAQKRQAQEEAERLRRQVQDESQRKRQAEVELASRVKAEAEAAREKQRALQALEELRL   1611 - 1680
QAEEAERRLRQAEVERARQVQVALETAQRSAEAELQSKRASFAEKTAQLERSLQEEHVAVAQLREEAERR   1681 - 1750
AQQQAEAERAREEAERELERWQLKANEALRLRLQAEEVAQQKSLAQAEAEKQKEEAEREARRRGKAEEQA   1751 - 1820
VRQRELAEQELEKQRQLAEGTAQQRLAAEQELIRLRAETEQGEQQRQLLEEELARLQREAAAATQKRQEL   1821 - 1890
EAELAKVRAEMEVLLASKARAEEESRSTSEKSKQRLEAEAGRFRELAEEAARLRALAEEAKRQRQLAEED   1891 - 1960
AARQRAEAERVLAEKLAAIGEATRLKTEAEIALKEKEAENERLRRLAEDEAFQRRRLEEQAAQHKADIEE   1961 - 2030
RLAQLRKASDSELERQKGLVEDTLRQRRQVEEEILALKASFEKAAAGKAELELELGRIRSNAEDTLRSKE   2031 - 2100
QAELEAARQRQLAAEEERRRREAEERVQKSLAAEEEAARQRKAALEEVERLKAKVEEARRLRERAEQESA   2101 - 2170
RQLQLAQEAAQKRLQAEEKAHAFAVQQKEQELQQTLQQEQSVLDQLRGEAEAARRAAEEAEEARVQAERE   2171 - 2240
AAQSRRQVEEAERLKQSAEEQAQARAQAQAAAEKLRKEAEQEAARRAQAEQAALRQKQAADAEMEKHKKF   2241 - 2310
AEQTLRQKAQVEQELTTLRLQLEETDHQKNLLDEELQRLKAEATEAARQRSQVEEELFSVRVQMEELSKL   2311 - 2380
KARIEAENRALILRDKDNTQRFLQEEAEKMKQVAEEAARLSVAAQEAARLRQLAEEDLAQQRALAEKMLK   2381 - 2450
EKMQAVQEATRLKAEAELLQQQKELAQEQARRLQEDKEQMAQQLAEETQGFQRTLEAERQRQLEMSAEAE   2451 - 2520
RLKLRVAEMSRAQARAEEDAQRFRKQAEEIGEKLHRTELATQEKVTLVQTLEIQRQQSDHDAERLREAIA   2521 - 2590
ELEREKEKLQQEAKLLQLKSEEMQTVQQEQLLQETQALQQSFLSEKDSLLQRERFIEQEKAKLEQLFQDE   2591 - 2660
VAKAQQLREEQQRQQQQMEQERQRLVASMEEARRRQHEAEEGVRRKQEELQQLEQQRRQQEELLAEENQR   2661 - 2730
LREQLQLLEEQHRAALAHSEEVTASQVAATKTLPNGRDALDGPAAEAEPEHSFDGLRRKVSAQRLQEAGI   2731 - 2800
LSAEELQRLAQGHTTVDELARREDVRHYLQGRSSIAGLLLKATNEKLSVYAALQRQLLSPGTALILLEAQ   2801 - 2870
AASGFLLDPVRNRRLTVNEAVKEGVVGPELHHKLLSAERAVTGYKDPYTGQQISLFQAMQKGLIVREHGI   2871 - 2940
RLLEAQIATGGVIDPVHSHRVPVDVAYRRGYFDEEMNRVLADPSDDTKGFFDPNTHENLTYLQLLERCVE   2941 - 3010
DPETGLCLLPLTDKAAKGGELVYTDSEARDVFEKATVSAPFGKFQGKTVTIWEIINSEYFTAEQRRDLLR   3011 - 3080
QFRTGRITVEKIIKIIITVVEEQEQKGRLCFEGLRSLVPAAELLESRVIDRELYQQLQRGERSVRDVAEV   3081 - 3150
DTVRRALRGANVIAGVWLEEAGQKLSIYNALKKDLLPSDMAVALLEAQAGTGHIIDPATSARLTVDEAVR   3151 - 3220
AGLVGPEFHEKLLSAEKAVTGYRDPYTGQSVSLFQALKKGLIPREQGLRLLDAQLSTGGIVDPSKSHRVP   3221 - 3290
LDVACARGCLDEETSRALSAPRADAKAYSDPSTGEPATYGELQQRCRPDQLTGLSLLPLSEKAARARQEE   3291 - 3360
LYSELQARETFEKTPVEVPVGGFKGRTVTVWELISSEYFTAEQRQELLRQFRTGKVTVEKVIKILITIVE   3361 - 3430
EVETLRQERLSFSGLRAPVPASELLASGVLSRAQFEQLKDGKTTVKDLSELGSVRTLLQGSGCLAGIYLE   3431 - 3500
DTKEKVSIYEAMRRGLLRATTAALLLEAQAATGFLVDPVRNQRLYVHEAVKAGVVGPELHEQLLSAEKAV   3501 - 3570
TGYRDPYSGSTISLFQAMQKGLVLRQHGIRLLEAQIATGGIIDPVHSHRVPVDVAYQRGYFSEEMNRVLA   3571 - 3640
DPSDDTKGFFDPNTHENLTYRQLLERCVEDPETGLRLLPLKGAEKAEVVETTQVYTEEETRRAFEETQID   3641 - 3710
IPGGGSHGGSTMSLWEVMQSDLIPEEQRAQLMADFQAGRVTKERMIIIIIEIIEKTEIIRQQGLASYDYV   3711 - 3780
RRRLTAEDLFEARIISLETYNLLREGTRSLREALEAESAWCYLYGTGSVAGVYLPGSRQTLSIYQALKKG   3781 - 3850
LLSAEVARLLLEAQAATGFLLDPVKGERLTVDEAVRKGLVGPELHDRLLSAERAVTGYRDPYTEQTISLF   3851 - 3920
QAMKKELIPTEEALRLLDAQLATGGIVDPRLGFHLPLEVAYQRGYLNKDTHDQLSEPSEVRSYVDPSTDE   3921 - 3990
RLSYTQLLRRCRRDDGTGQLLLPLSDARKLTFRGLRKQITMEELVRSQVMDEATALQLREGLTSIEEVTK   3991 - 4060
NLQKFLEGTSCIAGVFVDATKERLSVYQAMKKGIIRPGTAFELLEAQAATGYVIDPIKGLKLTVEEAVRM   4061 - 4130
GIVGPEFKDKLLSAERAVTGYKDPYSGKLISLFQAMKKGLILKDHGIRLLEAQIATGGIIDPEESHRLPV   4131 - 4200
EVAYKRGLFDEEMNEILTDPSDDTKGFFDPNTEENLTYLQLMERCITDPQTGLCLLPLKEKKRERKTSSK   4201 - 4270
SSVRKRRVVIVDPETGKEMSVYEAYRKGLIDHQTYLELSEQECEWEEITISSSDGVVKSMIIDRRSGRQY   4271 - 4340
DIDDAIAKNLIDRSALDQYRAGTLSITEFADMLSGNAGGFRSRSSSVGSSSSYPISPAVSRTQLASWSDP   4341 - 4410
TEETGPVAGILDTETLEKVSITEAMHRNLVDNITGQRLLEAQACTGGIIDPSTGERFPVTDAVNKGLVDK   4411 - 4480
IMVDRINLAQKAFCGFEDPRTKTKMSAAQALKKGWLYYEAGQRFLEVQYLTGGLIEPDTPGRVPLDEALQ   4481 - 4550
RGTVDARTAQKLRDVGAYSKYLTCPKTKLKISYKDALDRSMVEEGTGLRLLEAAAQSTKGYYSPYSVSGS   4551 - 4620
GSTAGSRTGSRTGSRAGSRRGSFDATGSGFSMTFSSSSYSSSGYGRRYASGSSASLGGPESAVA         4621 - 4684
//

Text Mined References (130)

PMID Year Title