Property Summary

NCBI Gene PubMed Count 133
PubMed Score 1021.07
PubTator Score 739.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Blepharophimosis 70
Abnormal skeletal development 60
Abnormal vertebral ossification 5
Abnormality of epiphysis morphology 39
Abnormality of femoral epiphysis 1
Abnormality of pelvic girdle bone morphology 37
Abnormality of the abdominal wall 10
Abnormality of the metaphyses 48
Abnormality of the pharynx 19
Acquired flat foot 72
Acquired scoliosis 281
Anisospondyly 2
Anterior bowing of long bones 1
Arthrogryposis 54
Atrial Septal Defects 85
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blue sclera 32
Bowing of the long bones 31
Broad flat nasal bridge 236
Byzanthine arch palate 194
Calvarial defect 10
Cataract 297
Chubby cheeks 50
Cleft Palate 271
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Congenital pectus carinatum 52
Contracture of joint of hand 30
Convex nasal bridge 57
Corneal diameter decreased 47
Coronal cleft vertebrae 8
Coxa valga 22
Coxa valga deformity 22
Cranial defect 10
Creatine phosphokinase serum increased 110
Cryptorchidism 296
Curvature of spine 282
Decrease in jaw opening 5
Decreased tendon reflex 122
Delayed bone age 136
Depressed nasal ridge 51
Dull intelligence 645
Electromyogram abnormal 49
Elevated aldolase level 2
Elevated creatine kinase 110
Everted lower lip vermilion 54
Eyebrow abnormalities 12
Fetal overgrowth 16
Flat face 52
Flatfoot 73
Flexion contracture - wrist 6
Flexion contracture of hip 10
Flexion contracture-shoulder 3
Full cheeks 50
Gait abnormality 135
Generalized hirsutism 36
Generalized overgrowth 16
Hernia, Inguinal 89
High pitched voice 23
Hip Dislocation, Congenital 48
Hip joint varus deformity - observation 24
Hyperkyphosis 111
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypophonia 7
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Intellectual disability 1016
Joint stiffness 84
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Lens Opacities 231
Limited jaw mobility 5
Limited jaw opening 5
Long eyelashes in irregular rows 1
Lordosis 54
Low Vision 174
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Lumbar lordosis 35
Malar flattening 129
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 275
Mask-like facies 25
Mental Retardation 645
Mental deficiency 645
Metaphyseal widening 22
Metatarsal Valgus 1
Microcornea 47
Micrognathism 275
Micromelia 58
Microstomia 78
Muscle Hypertonia 88
Muscle Weakness 170
Myopathy 185
Myopia 176
Myotonia 10
Narrow thorax 53
Nasal bridge wide 236
Neonatal Death 14
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Osteoporosis 363
Overfolded helix 24
Overgrowth 16
Platyspondyly 56
Poor school performance 645
Posteriorly rotated ear 61
Prominent nasal bridge 57
Protruding lower lip 54
Puffy cheeks 50
Pursed lips 2
Respiratory Insufficiency 132
Respiratory function loss 121
Schwartz-Jampel Syndrome 1
Short limb dwarfism, disproportionate 22
Short neck 140
Short stature 531
Short tubular bones 22
Skeletal muscle atrophy 139
Skeletal muscle hypertrophy 16
Skull defect 10
Small testicle 75
Spinal rigidity 13
Strabismus 270
Thoracic hypoplasia 14
Toe contractures 5
Trismus 6
Umbilical hernia 93
Uranostaphyloschisis 167
Visual Impairment 174
Voice Fatigue 7
muscle degeneration 139
Disease Target Count Z-score Confidence
Schwartz-Jampel syndrome 1 3 5.478 2.7

Expression

  Differential Expression (16)

Disease log2 FC p
Astrocytoma, Pilocytic 1.100 1.7e-04
atypical teratoid / rhabdoid tumor 1.600 5.1e-04
cystic fibrosis and chronic rhinosinusit... 1.030 2.8e-02
Duchenne muscular dystrophy 1.009 8.1e-06
ductal carcinoma in situ -1.100 2.4e-03
ependymoma 1.100 1.7e-05
gastric carcinoma 1.100 3.2e-02
glioblastoma 1.100 2.7e-04
invasive ductal carcinoma -1.400 9.1e-03
malignant mesothelioma -2.500 1.1e-07
ovarian cancer 2.300 3.3e-07
pancreatic cancer 1.100 5.2e-03
pancreatic ductal adenocarcinoma liver m... 1.517 1.9e-03
Polycystic ovary syndrome -1.163 2.6e-02
psoriasis -1.300 5.0e-06
sonic hedgehog group medulloblastoma 1.100 1.6e-03

Protein-protein Interaction (1)

Gene RIF (95)

AA Sequence

MGWRAAGALLLALLLHGRLLAVTHGLRAYDGLSLPEDIETVTASQMRWTHSYLSDDEDMLADSISGDDLG      1 - 70
SGDLGSGDFQMVYFRALVNFTRSIEYSPQLEDAGSREFREVSEAVVDTLESEYLKIPGDQVVSVVFIKEL     71 - 140
DGWVFVELDVGSEGNADGAQIQEMLLRVISSGSVASYVTSPQGFQFRRLGTVPQFPRACTEAEFACHSYN    141 - 210
ECVALEYRCDRRPDCRDMSDELNCEEPVLGISPTFSLLVETTSLPPRPETTIMRQPPVTHAPQPLLPGSV    211 - 280
RPLPCGPQEAACRNGHCIPRDYLCDGQEDCEDGSDELDCGPPPPCEPNEFPCGNGHCALKLWRCDGDFDC    281 - 350
EDRTDEANCPTKRPEEVCGPTQFRCVSTNMCIPASFHCDEESDCPDRSDEFGCMPPQVVTPPRESIQASR    351 - 420
GQTVTFTCVAIGVPTPIINWRLNWGHIPSHPRVTVTSEGGRGTLIIRDVKESDQGAYTCEAMNARGMVFG    421 - 490
IPDGVLELVPQRGPCPDGHFYLEHSAACLPCFCFGITSVCQSTRRFRDQIRLRFDQPDDFKGVNVTMPAQ    491 - 560
PGTPPLSSTQLQIDPSLHEFQLVDLSRRFLVHDSFWALPEQFLGNKVDSYGGSLRYNVRYELARGMLEPV    561 - 630
QRPDVVLMGAGYRLLSRGHTPTQPGALNQRQVQFSEEHWVHESGRPVQRAELLQVLQSLEAVLIQTVYNT    631 - 700
KMASVGLSDIAMDTTVTHATSHGRAHSVEECRCPIGYSGLSCESCDAHFTRVPGGPYLGTCSGCNCNGHA    701 - 770
SSCDPVYGHCLNCQHNTEGPQCNKCKAGFFGDAMKATATSCRPCPCPYIDASRRFSDTCFLDTDGQATCD    771 - 840
ACAPGYTGRRCESCAPGYEGNPIQPGGKCRPVNQEIVRCDERGSMGTSGEACRCKNNVVGRLCNECADGS    841 - 910
FHLSTRNPDGCLKCFCMGVSRHCTSSSWSRAQLHGASEEPGHFSLTNAASTHTTNEGIFSPTPGELGFSS    911 - 980
FHRLLSGPYFWSLPSRFLGDKVTSYGGELRFTVTQRSQPGSTPLHGQPLVVLQGNNIILEHHVAQEPSPG    981 - 1050
QPSTFIVPFREQAWQRPDGQPATREHLLMALAGIDTLLIRASYAQQPAESRVSGISMDVAVPEETGQDPA   1051 - 1120
LEVEQCSCPPGYRGPSCQDCDTGYTRTPSGLYLGTCERCSCHGHSEACEPETGACQGCQHHTEGPRCEQC   1121 - 1190
QPGYYGDAQRGTPQDCQLCPCYGDPAAGQAAHTCFLDTDGHPTCDACSPGHSGRHCERCAPGYYGNPSQG   1191 - 1260
QPCQRDSQVPGPIGCNCDPQGSVSSQCDAAGQCQCKAQVEGLTCSHCRPHHFHLSASNPDGCLPCFCMGI   1261 - 1330
TQQCASSAYTRHLISTHFAPGDFQGFALVNPQRNSRLTGEFTVEPVPEGAQLSFGNFAQLGHESFYWQLP   1331 - 1400
ETYQGDKVAAYGGKLRYTLSYTAGPQGSPLSDPDVQITGNNIMLVASQPALQGPERRSYEIMFREEFWRR   1401 - 1470
PDGQPATREHLLMALADLDELLIRATFSSVPLAASISAVSLEVAQPGPSNRPRALEVEECRCPPGYIGLS   1471 - 1540
CQDCAPGYTRTGSGLYLGHCELCECNGHSDLCHPETGACSQCQHNAAGEFCELCAPGYYGDATAGTPEDC   1541 - 1610
QPCACPLTNPENMFSRTCESLGAGGYRCTACEPGYTGQYCEQCGPGYVGNPSVQGGQCLPETNQAPLVVE   1611 - 1680
VHPARSIVPQGGSHSLRCQVSGSPPHYFYWSREDGRPVPSGTQQRHQGSELHFPSVQPSDAGVYICTCRN   1681 - 1750
LHQSNTSRAELLVTEAPSKPITVTVEEQRSQSVRPGADVTFICTAKSKSPAYTLVWTRLHNGKLPTRAMD   1751 - 1820
FNGILTIRNVQLSDAGTYVCTGSNMFAMDQGTATLHVQASGTLSAPVVSIHPPQLTVQPGQLAEFRCSAT   1821 - 1890
GSPTPTLEWTGGPGGQLPAKAQIHGGILRLPAVEPTDQAQYLCRAHSSAGQQVARAVLHVHGGGGPRVQV   1891 - 1960
SPERTQVHAGRTVRLYCRAAGVPSATITWRKEGGSLPPQARSERTDIATLLIPAITTADAGFYLCVATSP   1961 - 2030
AGTAQARIQVVVLSASDASPPPVKIESSSPSVTEGQTLDLNCVVAGSAHAQVTWYRRGGSLPPHTQVHGS   2031 - 2100
RLRLPQVSPADSGEYVCRVENGSGPKEASITVSVLHGTHSGPSYTPVPGSTRPIRIEPSSSHVAEGQTLD   2101 - 2170
LNCVVPGQAHAQVTWHKRGGSLPARHQTHGSLLRLHQVTPADSGEYVCHVVGTSGPLEASVLVTIEASVI   2171 - 2240
PGPIPPVRIESSSSTVAEGQTLDLSCVVAGQAHAQVTWYKRGGSLPARHQVRGSRLYIFQASPADAGQYV   2241 - 2310
CRASNGMEASITVTVTGTQGANLAYPAGSTQPIRIEPSSSQVAEGQTLDLNCVVPGQSHAQVTWHKRGGS   2311 - 2380
LPVRHQTHGSLLRLYQASPADSGEYVCRVLGSSVPLEASVLVTIEPAGSVPALGVTPTVRIESSSSQVAE   2381 - 2450
GQTLDLNCLVAGQAHAQVTWHKRGGSLPARHQVHGSRLRLLQVTPADSGEYVCRVVGSSGTQEASVLVTI   2451 - 2520
QQRLSGSHSQGVAYPVRIESSSASLANGHTLDLNCLVASQAPHTITWYKRGGSLPSRHQIVGSRLRIPQV   2521 - 2590
TPADSGEYVCHVSNGAGSRETSLIVTIQGSGSSHVPSVSPPIRIESSSPTVVEGQTLDLNCVVARQPQAI   2591 - 2660
ITWYKRGGSLPSRHQTHGSHLRLHQMSVADSGEYVCRANNNIDALEASIVISVSPSAGSPSAPGSSMPIR   2661 - 2730
IESSSSHVAEGETLDLNCVVPGQAHAQVTWHKRGGSLPSHHQTRGSRLRLHHVSPADSGEYVCRVMGSSG   2731 - 2800
PLEASVLVTIEASGSSAVHVPAPGGAPPIRIEPSSSRVAEGQTLDLKCVVPGQAHAQVTWHKRGGNLPAR   2801 - 2870
HQVHGPLLRLNQVSPADSGEYSCQVTGSSGTLEASVLVTIEPSSPGPIPAPGLAQPIYIEASSSHVTEGQ   2871 - 2940
TLDLNCVVPGQAHAQVTWYKRGGSLPARHQTHGSQLRLHLVSPADSGEYVCRAASGPGPEQEASFTVTVP   2941 - 3010
PSEGSSYRLRSPVISIDPPSSTVQQGQDASFKCLIHDGAAPISLEWKTRNQELEDNVHISPNGSIITIVG   3011 - 3080
TRPSNHGTYRCVASNAYGVAQSVVNLSVHGPPTVSVLPEGPVWVKVGKAVTLECVSAGEPRSSARWTRIS   3081 - 3150
STPAKLEQRTYGLMDSHAVLQISSAKPSDAGTYVCLAQNALGTAQKQVEVIVDTGAMAPGAPQVQAEEAE   3151 - 3220
LTVEAGHTATLRCSATGSPAPTIHWSKLRSPLPWQHRLEGDTLIIPRVAQQDSGQYICNATSPAGHAEAT   3221 - 3290
IILHVESPPYATTVPEHASVQAGETVQLQCLAHGTPPLTFQWSRVGSSLPGRATARNELLHFERAAPEDS   3291 - 3360
GRYRCRVTNKVGSAEAFAQLLVQGPPGSLPATSIPAGSTPTVQVTPQLETKSIGASVEFHCAVPSDRGTQ   3361 - 3430
LRWFKEGGQLPPGHSVQDGVLRIQNLDQSCQGTYICQAHGPWGKAQASAQLVIQALPSVLINIRTSVQTV   3431 - 3500
VVGHAVEFECLALGDPKPQVTWSKVGGHLRPGIVQSGGVVRIAHVELADAGQYRCTATNAAGTTQSHVLL   3501 - 3570
LVQALPQISMPQEVRVPAGSAAVFPCIASGYPTPDISWSKLDGSLPPDSRLENNMLMLPSVRPQDAGTYV   3571 - 3640
CTATNRQGKVKAFAHLQVPERVVPYFTQTPYSFLPLPTIKDAYRKFEIKITFRPDSADGMLLYNGQKRVP   3641 - 3710
GSPTNLANRQPDFISFGLVGGRPEFRFDAGSGMATIRHPTPLALGHFHTVTLLRSLTQGSLIVGDLAPVN   3711 - 3780
GTSQGKFQGLDLNEELYLGGYPDYGAIPKAGLSSGFIGCVRELRIQGEEIVFHDLNLTAHGISHCPTCRD   3781 - 3850
RPCQNGGQCHDSESSSYVCVCPAGFTGSRCEHSQALHCHPEACGPDATCVNRPDGRGYTCRCHLGRSGLR   3851 - 3920
CEEGVTVTTPSLSGAGSYLALPALTNTHHELRLDVEFKPLAPDGVLLFSGGKSGPVEDFVSLAMVGGHLE   3921 - 3990
FRYELGSGLAVLRSAEPLALGRWHRVSAERLNKDGSLRVNGGRPVLRSSPGKSQGLNLHTLLYLGGVEPS   3991 - 4060
VPLSPATNMSAHFRGCVGEVSVNGKRLDLTYSFLGSQGIGQCYDSSPCERQPCQHGATCMPAGEYEFQCL   4061 - 4130
CRDGFKGDLCEHEENPCQLREPCLHGGTCQGTRCLCLPGFSGPRCQQGSGHGIAESDWHLEGSGGNDAPG   4131 - 4200
QYGAYFHDDGFLAFPGHVFSRSLPEVPETIELEVRTSTASGLLLWQGVEVGEAGQGKDFISLGLQDGHLV   4201 - 4270
FRYQLGSGEARLVSEDPINDGEWHRVTALREGRRGSIQVDGEELVSGRSPGPNVAVNAKGSVYIGGAPDV   4271 - 4340
ATLTGGRFSSGITGCVKNLVLHSARPGAPPPQPLDLQHRAQAGANTRPCPS                      4341 - 4391
//

Text Mined References (140)

PMID Year Title