Property Summary

NCBI Gene PubMed Count 61
PubMed Score 61.26
PubTator Score 51.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Acquired scoliosis 274
Ankle contracture 8
Autosomal recessive predisposition 1407
Bell Palsy 57
Byzanthine arch palate 194
Cachexia 50
Cardiovascular Abnormalities 31
Cardiovascular Diseases 57
Cervical Dystonia 26
Congenital clubfoot 108
Congenital muscular dystrophy (disorder) 14
Congenital torticollis 6
Contracture 95
Contracture of joint 92
Creatine phosphokinase serum increased 110
Curvature of spine 275
Distal limb muscle weakness due to peripheral neuropathy 60
Distal muscle weakness 60
Electromyogram abnormal 48
Elevated creatine kinase 110
Facial Paresis 58
Facial muscle weakness of muscles innervated by CN VII 57
Failure to gain weight 359
Feeding difficulties in infancy 174
Flexion contracture 92
Flexion contracture - elbow 30
Flexion contracture of proximal interphalangeal joint 74
Flexion contractures of joints 92
Generalized amyotrophy 20
Highly variable severity 149
Hyperhidrosis disorder 78
Hyperkyphosis 109
Increased laxity of ankles 3
Increased laxity of fingers 3
Increased laxity of wrists 3
Increased sweating 78
Infantile onset 236
Joint laxity 52
Joint stiffness 80
Kyphosis deformity of spine 112
Laryngeal dystonia 5
Limb-girdle muscle weakness 12
Lower respiratory tract infection 14
Mildly increased creatine kinase 20
Motor delay 144
Muscle fiber necrosis 6
Myopathy 185
Neonatal Hypotonia 64
No development of motor milestones 144
Nocturnal hypoventilation 3
Organic writer's cramp 10
Oromandibular dystonia 4
Pediatric failure to thrive 359
Phrynoderma 10
Progressive disorder 139
Prominent ear 55
Protruding ears 55
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Recurrent lower respiratory tract infection 12
Reduced fetal movement 51
Respiratory insufficiency due to muscle weakness 36
Round face 43
Round, full face 43
Slender build 14
Slow progression 88
Spasmodic torticollis 17
Spinal rigidity 13
Spontaneous abortion 97
Static Tremor 21
Sweating 78
Torticollis 18
Type 1 muscle fiber predominance 10
Variable expressivity 149
Variation in muscle fiber size 16
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 29 0.0 4.0

Expression

  Differential Expression (34)

Gene RIF (29)

AA Sequence

MRKHRHLPLVAVFCLFLSGFPTTHAQQQQADVKNGAAADIIFLVDSSWTIGEEHFQLVREFLYDVVKSLA      1 - 70
VGENDFHFALVQFNGNPHTEFLLNTYRTKQEVLSHISNMSYIGGTNQTGKGLEYIMQSHLTKAAGSRAGD     71 - 140
GVPQVIVVLTDGHSKDGLALPSAELKSADVNVFAIGVEDADEGALKEIASEPLNMHMFNLENFTSLHDIV    141 - 210
GNLVSCVHSSVSPERAGDTETLKDITAQDSADIIFLIDGSNNTGSVNFAVILDFLVNLLEKLPIGTQQIR    211 - 280
VGVVQFSDEPRTMFSLDTYSTKAQVLGAVKALGFAGGELANIGLALDFVVENHFTRAGGSRVEEGVPQVL    281 - 350
VLISAGPSSDEIRYGVVALKQASVFSFGLGAQAASRAELQHIATDDNLVFTVPEFRSFGDLQEKLLPYIV    351 - 420
GVAQRHIVLKPPTIVTQVIEVNKRDIVFLVDGSSALGLANFNAIRDFIAKVIQRLEIGQDLIQVAVAQYA    421 - 490
DTVRPEFYFNTHPTKREVITAVRKMKPLDGSALYTGSALDFVRNNLFTSSAGYRAAEGIPKLLVLITGGK    491 - 560
SLDEISQPAQELKRSSIMAFAIGNKGADQAELEEIAFDSSLVFIPAEFRAAPLQGMLPGLLAPLRTLSGT    561 - 630
PEVHSNKRDIIFLLDGSANVGKTNFPYVRDFVMNLVNSLDIGNDNIRVGLVQFSDTPVTEFSLNTYQTKS    631 - 700
DILGHLRQLQLQGGSGLNTGSALSYVYANHFTEAGGSRIREHVPQLLLLLTAGQSEDSYLQAANALTRAG    701 - 770
ILTFCVGASQANKAELEQIAFNPSLVYLMDDFSSLPALPQQLIQPLTTYVSGGVEEVPLAQPESKRDILF    771 - 840
LFDGSANLVGQFPVVRDFLYKIIDELNVKPEGTRIAVAQYSDDVKVESRFDEHQSKPEILNLVKRMKIKT    841 - 910
GKALNLGYALDYAQRYIFVKSAGSRIEDGVLQFLVLLVAGRSSDRVDGPASNLKQSGVVPFIFQAKNADP    911 - 980
AELEQIVLSPAFILAAESLPKIGDLHPQIVNLLKSVHNGAPAPVSGEKDVVFLLDGSEGVRSGFPLLKEF    981 - 1050
VQRVVESLDVGQDRVRVAVVQYSDRTRPEFYLNSYMNKQDVVNAVRQLTLLGGPTPNTGAALEFVLRNIL   1051 - 1120
VSSAGSRITEGVPQLLIVLTADRSGDDVRNPSVVVKRGGAVPIGIGIGNADITEMQTISFIPDFAVAIPT   1121 - 1190
FRQLGTVQQVISERVTQLTREELSRLQPVLQPLPSPGVGGKRDVVFLIDGSQSAGPEFQYVRTLIERLVD   1191 - 1260
YLDVGFDTTRVAVIQFSDDPKVEFLLNAHSSKDEVQNAVQRLRPKGGRQINVGNALEYVSRNIFKRPLGS   1261 - 1330
RIEEGVPQFLVLISSGKSDDEVDDPAVELKQFGVAPFTIARNADQEELVKISLSPEYVFSVSTFRELPSL   1331 - 1400
EQKLLTPITTLTSEQIQKLLASTRYPPPAVESDAADIVFLIDSSEGVRPDGFAHIRDFVSRIVRRLNIGP   1401 - 1470
SKVRVGVVQFSNDVFPEFYLKTYRSQAPVLDAIRRLRLRGGSPLNTGKALEFVARNLFVKSAGSRIEDGV   1471 - 1540
PQHLVLVLGGKSQDDVSRFAQVIRSSGIVSLGVGDRNIDRTELQTITNDPRLVFTVREFRELPNIEERIM   1541 - 1610
NSFGPSAATPAPPGVDTPPPSRPEKKKADIVFLLDGSINFRRDSFQEVLRFVSEIVDTVYEDGDSIQVGL   1611 - 1680
VQYNSDPTDEFFLKDFSTKRQIIDAINKVVYKGGRHANTKVGLEHLRVNHFVPEAGSRLDQRVPQIAFVI   1681 - 1750
TGGKSVEDAQDVSLALTQRGVKVFAVGVRNIDSEEVGKIASNSATAFRVGNVQELSELSEQVLETLHDAM   1751 - 1820
HETLCPGVTDAAKACNLDVILGFDGSRDQNVFVAQKGFESKVDAILNRISQMHRVSCSGGRSPTVRVSVV   1821 - 1890
ANTPSGPVEAFDFDEYQPEMLEKFRNMRSQHPYVLTEDTLKVYLNKFRQSSPDSVKVVIHFTDGADGDLA   1891 - 1960
DLHRASENLRQEGVRALILVGLERVVNLERLMHLEFGRGFMYDRPLRLNLLDLDYELAEQLDNIAEKACC   1961 - 2030
GVPCKCSGQRGDRGPIGSIGPKGIPGEDGYRGYPGDEGGPGERGPPGVNGTQGFQGCPGQRGVKGSRGFP   2031 - 2100
GEKGEVGEIGLDGLDGEDGDKGLPGSSGEKGNPGRRGDKGPRGEKGERGDVGIRGDPGNPGQDSQERGPK   2101 - 2170
GETGDLGPMGVPGRDGVPGGPGETGKNGGFGRRGPPGAKGNKGGPGQPGFEGEQGTRGAQGPAGPAGPPG   2171 - 2240
LIGEQGISGPRGSGGAAGAPGERGRTGPLGRKGEPGEPGPKGGIGNRGPRGETGDDGRDGVGSEGRRGKK   2241 - 2310
GERGFPGYPGPKGNPGEPGLNGTTGPKGIRGRRGNSGPPGIVGQKGDPGYPGPAGPKGNRGDSIDQCALI   2311 - 2380
QSIKDKCPCCYGPLECPVFPTELAFALDTSEGVNQDTFGRMRDVVLSIVNDLTIAESNCPRGARVAVVTY   2381 - 2450
NNEVTTEIRFADSKRKSVLLDKIKNLQVALTSKQQSLETAMSFVARNTFKRVRNGFLMRKVAVFFSNTPT   2451 - 2520
RASPQLREAVLKLSDAGITPLFLTRQEDRQLINALQINNTAVGHALVLPAGRDLTDFLENVLTCHVCLDI   2521 - 2590
CNIDPSCGFGSWRPSFRDRRAAGSDVDIDMAFILDSAETTTLFQFNEMKKYIAYLVRQLDMSPDPKASQH   2591 - 2660
FARVAVVQHAPSESVDNASMPPVKVEFSLTDYGSKEKLVDFLSRGMTQLQGTRALGSAIEYTIENVFESA   2661 - 2730
PNPRDLKIVVLMLTGEVPEQQLEEAQRVILQAKCKGYFFVVLGIGRKVNIKEVYTFASEPNDVFFKLVDK   2731 - 2800
STELNEEPLMRFGRLLPSFVSSENAFYLSPDIRKQCDWFQGDQPTKNLVKFGHKQVNVPNNVTSSPTSNP   2801 - 2870
VTTTKPVTTTKPVTTTTKPVTTTTKPVTIINQPSVKPAAAKPAPAKPVAAKPVATKMATVRPPVAVKPAT   2871 - 2940
AAKPVAAKPAAVRPPAAAAAKPVATKPEVPRPQAAKPAATKPATTKPMVKMSREVQVFEITENSAKLHWE   2941 - 3010
RAEPPGPYFYDLTVTSAHDQSLVLKQNLTVTDRVIGGLLAGQTYHVAVVCYLRSQVRATYHGSFSTKKSQ   3011 - 3080
PPPPQPARSASSSTINLMVSTEPLALTETDICKLPKDEGTCRDFILKWYYDPNTKSCARFWYGGCGGNEN   3081 - 3150
KFGSQKECEKVCAPVLAKPGVISVMGT                                              3151 - 3177
//

Text Mined References (68)

PMID Year Title