Property Summary

NCBI Gene PubMed Count 31
PubMed Score 117.07
PubTator Score 75.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal cortical bone morphology 22
Autosomal recessive predisposition 1442
Bell Palsy 58
Big calvaria 147
Blepharoptosis 231
Bulging forehead 66
Class III malocclusion 78
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital absence of kidney 31
Congenital anomaly of nose 4
Congenital deafness 185
Congenital hypoplasia of kidney 32
Congenital hypoplasia of radius 23
Craniofacial hyperostosis 11
Curved distal phalanges of the hand 2
Cutaneous finger syndactyly 11
Deafness 198
Decreased tendon reflex 122
Diaphyseal thickening 11
Difficulty walking 28
Downward slant of palpebral fissure 158
Enlargement of craniofacial bones 11
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Fingernail dysplasia 6
Frontal bossing 157
Hearing Loss, Partial 185
Hypertrophy of craniofacial bones 11
Hypertrophy of lower jaw 78
Hypoplastic finger 17
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Malformation of the nose 4
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Micrognathism 275
Nail dysplasia 52
Nose deformity 4
Orbital separation excessive 244
Osteosclerosis 31
Prenatal onset 139
Prominent forehead 66
Radial ray hypoplasia 23
Sensorineural Hearing Loss (disorder) 284
Short finger 17
Short ulnae 24
Simple syndactyly of fingers - first web 9
Tall stature 34
Thick craniofacial bones 11
ULNAR HYPOPLASIA 24
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 0.0 4.0

Expression

  Differential Expression (14)

Disease log2 FC p
atypical teratoid / rhabdoid tumor -1.200 4.3e-02
Breast cancer -1.300 3.5e-05
colon cancer 3.300 6.5e-04
cutaneous lupus erythematosus -2.300 2.8e-03
Down syndrome 1.400 1.6e-03
group 3 medulloblastoma -3.400 2.8e-07
lung cancer 1.200 1.9e-03
malignant mesothelioma 2.100 2.7e-06
medulloblastoma, large-cell -3.100 1.4e-03
non-small cell lung cancer 1.121 1.6e-06
oligodendroglioma 1.800 2.5e-03
posterior fossa group A ependymoma -1.300 4.6e-04
psoriasis -1.700 1.1e-06
subependymal giant cell astrocytoma -1.407 1.2e-02

Protein-protein Interaction (1)

Gene RIF (20)

AA Sequence

MRRQWGALLLGALLCAHGLASSPECACGRSHFTCAVSALGECTCIPAQWQCDGDNDCGDHSDEDGCILPT      1 - 70
CSPLDFHCDNGKCIRRSWVCDGDNDCEDDSDEQDCPPRECEEDEFPCQNGYCIRSLWHCDGDNDCGDNSD     71 - 140
EQCDMRKCSDKEFRCSDGSCIAEHWYCDGDTDCKDGSDEENCPSAVPAPPCNLEEFQCAYGRCILDIYHC    141 - 210
DGDDDCGDWSDESDCSSHQPCRSGEFMCDSGLCINAGWRCDGDADCDDQSDERNCTTSMCTAEQFRCHSG    211 - 280
RCVRLSWRCDGEDDCADNSDEENCENTGSPQCALDQFLCWNGRCIGQRKLCNGVNDCGDNSDESPQQNCR    281 - 350
PRTGEENCNVNNGGCAQKCQMVRGAVQCTCHTGYRLTEDGHTCQDVNECAEEGYCSQGCTNSEGAFQCWC    351 - 420
ETGYELRPDRRSCKALGPEPVLLFANRIDIRQVLPHRSEYTLLLNNLENAIALDFHHRRELVFWSDVTLD    421 - 490
RILRANLNGSNVEEVVSTGLESPGGLAVDWVHDKLYWTDSGTSRIEVANLDGAHRKVLLWQNLEKPRAIA    491 - 560
LHPMEGTIYWTDWGNTPRIEASSMDGSGRRIIADTHLFWPNGLTIDYAGRRMYWVDAKHHVIERANLDGS    561 - 630
HRKAVISQGLPHPFAITVFEDSLYWTDWHTKSINSANKFTGKNQEIIRNKLHFPMDIHTLHPQRQPAGKN    631 - 700
RCGDNNGGCTHLCLPSGQNYTCACPTGFRKISSHACAQSLDKFLLFARRMDIRRISFDTEDLSDDVIPLA    701 - 770
DVRSAVALDWDSRDDHVYWTDVSTDTISRAKWDGTGQEVVVDTSLESPAGLAIDWVTNKLYWTDAGTDRI    771 - 840
EVANTDGSMRTVLIWENLDRPRDIVVEPMGGYMYWTDWGASPKIERAGMDASGRQVIISSNLTWPNGLAI    841 - 910
DYGSQRLYWADAGMKTIEFAGLDGSKRKVLIGSQLPHPFGLTLYGERIYWTDWQTKSIQSADRLTGLDRE    911 - 980
TLQENLENLMDIHVFHRRRPPVSTPCAMENGGCSHLCLRSPNPSGFSCTCPTGINLLSDGKTCSPGMNSF    981 - 1050
LIFARRIDIRMVSLDIPYFADVVVPINITMKNTIAIGVDPQEGKVYWSDSTLHRISRANLDGSQHEDIIT   1051 - 1120
TGLQTTDGLAVDAIGRKVYWTDTGTNRIEVGNLDGSMRKVLVWQNLDSPRAIVLYHEMGFMYWTDWGENA   1121 - 1190
KLERSGMDGSDRAVLINNNLGWPNGLTVDKASSQLLWADAHTERIEAADLNGANRHTLVSPVQHPYGLTL   1191 - 1260
LDSYIYWTDWQTRSIHRADKGTGSNVILVRSNLPGLMDMQAVDRAQPLGFNKCGSRNGGCSHLCLPRPSG   1261 - 1330
FSCACPTGIQLKGDGKTCDPSPETYLLFSSRGSIRRISLDTSDHTDVHVPVPELNNVISLDYDSVDGKVY   1331 - 1400
YTDVFLDVIRRADLNGSNMETVIGRGLKTTDGLAVDWVARNLYWTDTGRNTIEASRLDGSCRKVLINNSL   1401 - 1470
DEPRAIAVFPRKGYLFWTDWGHIAKIERANLDGSERKVLINTDLGWPNGLTLDYDTRRIYWVDAHLDRIE   1471 - 1540
SADLNGKLRQVLVSHVSHPFALTQQDRWIYWTDWQTKSIQRVDKYSGRNKETVLANVEGLMDIIVVSPQR   1541 - 1610
QTGTNACGVNNGGCTHLCFARASDFVCACPDEPDSRPCSLVPGLVPPAPRATGMSEKSPVLPNTPPTTLY   1611 - 1680
SSTTRTRTSLEEVEGRCSERDARLGLCARSNDAVPAAPGEGLHISYAIGGLLSILLILVVIAALMLYRHK   1681 - 1750
KSKFTDPGMGNLTYSNPSYRTSTQEVKIEAIPKPAMYNQLCYKKEGGPDHNYTKEKIKIVEGICLLSGDD   1751 - 1820
AEWDDLKQLRSSRGGLLRDHVCMKTDTVSIQASSGSLDDTETEQLLQEEQSECSSVHTAATPERRGSLPD   1821 - 1890
TGWKHERKLSSESQV                                                          1891 - 1905
//

Text Mined References (30)

PMID Year Title