Property Summary

NCBI Gene PubMed Count 77
PubMed Score 339.37
PubTator Score 254.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count
Intellectual disability 1016
Epilepsy 792
Abnormal brainstem MRI signal intensity 1
Abnormal cortical gyration 5
Absent reflex 92
Absent tendon reflex 92
Actual Aspiration 8
Astrocytosis 4
Autosomal recessive predisposition 1442
Bell Palsy 58
Bladder Neoplasm 112
Brain Edema 50
Cerebral Edema 30
Congenital muscular dystrophy (disorder) 14
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Derangement of temporomandibular joint 1
Difficulty chewing 3
Dull intelligence 645
Elevated creatine kinase 110
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties in infancy 175
Flexion contracture 93
Flexion contractures of joints 93
Gastroesophageal reflux disease 110
Heartburn 78
Highly elevated creatine phosphokinase 1
Hypointensity of cerebral white matter on MRI 5
Hypokinesia 19
Increased connective tissue 7
Kyphoscoliosis deformity of spine 60
Low intelligence 645
Lower respiratory tract infection 14
Macroglossia 65
Malformation of the temporomandibular joint 1
Mental Retardation 645
Mental deficiency 645
Motor delay 147
Muscle biopsy shows dystrophic changes 39
Muscle fiber atrophy 3
Muscle hypotonia 571
Myositis 30
No development of motor milestones 147
Poor school performance 645
Prenatal onset 139
Pulmonary aspiration 8
Recurrent lower respiratory tract infection 12
Reflex, Deep Tendon, Absent 92
Respiratory Failure 104
Respiratory insufficiency due to muscle weakness 37
Seizures 596
Temporomandibular joint abnormalities 1
Temporomandibular joint deformity 1
Weak cry 17
Disease Target Count Z-score Confidence
Refractive error 50 0.0 3.0
Disease Target Count Z-score Confidence
Congenital merosin-deficient muscular dystrophy 1A 1 0.0 5.0
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 29 0.0 4.0

Expression

  Differential Expression (24)

Disease log2 FC p
Breast cancer -3.000 2.5e-02
acute quadriplegic myopathy 1.168 2.7e-05
adrenocortical carcinoma -1.353 1.8e-02
Atopic dermatitis -1.300 3.8e-03
atypical teratoid / rhabdoid tumor 1.400 3.5e-02
autosomal dominant Emery-Dreifuss muscul... 1.183 1.1e-03
breast carcinoma -1.200 7.3e-17
colon cancer -1.200 6.1e-03
Duchenne muscular dystrophy 1.164 1.7e-08
ductal carcinoma in situ -1.100 2.9e-02
ependymoma 1.800 9.7e-04
glioblastoma 1.300 3.0e-02
intraductal papillary-mucinous adenoma (... -1.500 8.2e-03
intraductal papillary-mucinous carcinoma... -1.400 1.3e-02
intraductal papillary-mucinous neoplasm ... -1.800 2.6e-02
invasive ductal carcinoma -1.050 3.4e-02
limb girdle muscular dystrophy 2A 1.037 2.3e-04
lung cancer -1.700 6.6e-03
lung carcinoma -1.800 2.4e-16
medulloblastoma 1.200 2.4e-02
ovarian cancer -1.400 2.3e-06
pancreatic cancer 1.200 8.5e-03
primary pancreatic ductal adenocarcinoma 1.520 1.1e-02
psoriasis -1.100 3.0e-04

 CSPA Cell Line (4)

Protein-protein Interaction (1)

Gene RIF (44)

AA Sequence

MPGAAGVLLLLLLSGGLGGVQAQRPQQQRQSQAHQQRGLFPAVLNLASNALITTNATCGEKGPEMYCKLV      1 - 70
EHVPGQPVRNPQCRICNQNSSNPNQRHPITNAIDGKNTWWQSPSIKNGIEYHYVTITLDLQQVFQIAYVI     71 - 140
VKAANSPRPGNWILERSLDDVEYKPWQYHAVTDTECLTLYNIYPRTGPPSYAKDDEVICTSFYSKIHPLE    141 - 210
NGEIHISLINGRPSADDPSPELLEFTSARYIRLRFQRIRTLNADLMMFAHKDPREIDPIVTRRYYYSVKD    211 - 280
ISVGGMCICYGHARACPLDPATNKSRCECEHNTCGDSCDQCCPGFHQKPWRAGTFLTKTECEACNCHGKA    281 - 350
EECYYDENVARRNLSLNIRGKYIGGGVCINCTQNTAGINCETCTDGFFRPKGVSPNYPRPCQPCHCDPIG    351 - 420
SLNEVCVKDEKHARRGLAPGSCHCKTGFGGVSCDRCARGYTGYPDCKACNCSGLGSKNEDPCFGPCICKE    421 - 490
NVEGGDCSRCKSGFFNLQEDNWKGCDECFCSGVSNRCQSSYWTYGKIQDMSGWYLTDLPGRIRVAPQQDD    491 - 560
LDSPQQISISNAEARQALPHSYYWSAPAPYLGNKLPAVGGQLTFTISYDLEEEEEDTERVLQLMIILEGN    561 - 630
DLSISTAQDEVYLHPSEEHTNVLLLKEESFTIHGTHFPVRRKEFMTVLANLKRVLLQITYSFGMDAIFRL    631 - 700
SSVNLESAVSYPTDGSIAAAVEVCQCPPGYTGSSCESCWPRHRRVNGTIFGGICEPCQCFGHAESCDDVT    701 - 770
GECLNCKDHTGGPYCDKCLPGFYGEPTKGTSEDCQPCACPLNIPSNNFSPTCHLDRSLGLICDGCPVGYT    771 - 840
GPRCERCAEGYFGQPSVPGGSCQPCQCNDNLDFSIPGSCDSLSGSCLICKPGTTGRYCELCADGYFGDAV    841 - 910
DAKNCQPCRCNAGGSFSEVCHSQTGQCECRANVQGQRCDKCKAGTFGLQSARGCVPCNCNSFGSKSFDCE    911 - 980
ESGQCWCQPGVTGKKCDRCAHGYFNFQEGGCTACECSHLGNNCDPKTGRCICPPNTIGEKCSKCAPNTWG    981 - 1050
HSITTGCKACNCSTVGSLDFQCNVNTGQCNCHPKFSGAKCTECSRGHWNYPRCNLCDCFLPGTDATTCDS   1051 - 1120
ETKKCSCSDQTGQCTCKVNVEGIHCDRCRPGKFGLDAKNPLGCSSCYCFGTTTQCSEAKGLIRTWVTLKA   1121 - 1190
EQTILPLVDEALQHTTTKGIVFQHPEIVAHMDLMREDLHLEPFYWKLPEQFEGKKLMAYGGKLKYAIYFE   1191 - 1260
AREETGFSTYNPQVIIRGGTPTHARIIVRHMAAPLIGQLTRHEIEMTEKEWKYYGDDPRVHRTVTREDFL   1261 - 1330
DILYDIHYILIKATYGNFMRQSRISEISMEVAEQGRGTTMTPPADLIEKCDCPLGYSGLSCEACLPGFYR   1331 - 1400
LRSQPGGRTPGPTLGTCVPCQCNGHSSLCDPETSICQNCQHHTAGDFCERCALGYYGIVKGLPNDCQQCA   1401 - 1470
CPLISSSNNFSPSCVAEGLDDYRCTACPRGYEGQYCERCAPGYTGSPGNPGGSCQECECDPYGSLPVPCD   1471 - 1540
PVTGFCTCRPGATGRKCDGCKHWHAREGWECVFCGDECTGLLLGDLARLEQMVMSINLTGPLPAPYKMLY   1541 - 1610
GLENMTQELKHLLSPQRAPERLIQLAEGNLNTLVTEMNELLTRATKVTADGEQTGQDAERTNTRAKSLGE   1611 - 1680
FIKELARDAEAVNEKAIKLNETLGTRDEAFERNLEGLQKEIDQMIKELRRKNLETQKEIAEDELVAAEAL   1681 - 1750
LKKVKKLFGESRGENEEMEKDLREKLADYKNKVDDAWDLLREATDKIREANRLFAVNQKNMTALEKKKEA   1751 - 1820
VESGKRQIENTLKEGNDILDEANRLADEINSIIDYVEDIQTKLPPMSEELNDKIDDLSQEIKDRKLAEKV   1821 - 1890
SQAESHAAQLNDSSAVLDGILDEAKNISFNATAAFKAYSNIKDYIDEAEKVAKEAKDLAHEATKLATGPR   1891 - 1960
GLLKEDAKGCLQKSFRILNEAKKLANDVKENEDHLNGLKTRIENADARNGDLLRTLNDTLGKLSAIPNDT   1961 - 2030
AAKLQAVKDKARQANDTAKDVLAQITELHQNLDGLKKNYNKLADSVAKTNAVVKDPSKNKIIADADATVK   2031 - 2100
NLEQEADRLIDKLKPIKELEDNLKKNISEIKELINQARKQANSIKVSVSSGGDCIRTYKPEIKKGSYNNI   2101 - 2170
VVNVKTAVADNLLFYLGSAKFIDFLAIEMRKGKVSFLWDVGSGVGRVEYPDLTIDDSYWYRIVASRTGRN   2171 - 2240
GTISVRALDGPKASIVPSTHHSTSPPGYTILDVDANAMLFVGGLTGKLKKADAVRVITFTGCMGETYFDN   2241 - 2310
KPIGLWNFREKEGDCKGCTVSPQVEDSEGTIQFDGEGYALVSRPIRWYPNISTVMFKFRTFSSSALLMYL   2311 - 2380
ATRDLRDFMSVELTDGHIKVSYDLGSGMASVVSNQNHNDGKWKSFTLSRIQKQANISIVDIDTNQEENIA   2381 - 2450
TSSSGNNFGLDLKADDKIYFGGLPTLRNLSMKARPEVNLKKYSGCLKDIEISRTPYNILSSPDYVGVTKG   2451 - 2520
CSLENVYTVSFPKPGFVELSPVPIDVGTEINLSFSTKNESGIILLGSGGTPAPPRRKRRQTGQAYYAILL   2521 - 2590
NRGRLEVHLSTGARTMRKIVIRPEPNLFHDGREHSVHVERTRGIFTVQVDENRRYMQNLTVEQPIEVKKL   2591 - 2660
FVGGAPPEFQPSPLRNIPPFEGCIWNLVINSVPMDFARPVSFKNADIGRCAHQKLREDEDGAAPAEIVIQ   2661 - 2730
PEPVPTPAFPTPTPVLTHGPCAAESEPALLIGSKQFGLSRNSHIAIAFDDTKVKNRLTIELEVRTEAESG   2731 - 2800
LLFYMARINHADFATVQLRNGLPYFSYDLGSGDTHTMIPTKINDGQWHKIKIMRSKQEGILYVDGASNRT   2801 - 2870
ISPKKADILDVVGMLYVGGLPINYTTRRIGPVTYSIDGCVRNLHMAEAPADLEQPTSSFHVGTCFANAQR   2871 - 2940
GTYFDGTGFAKAVGGFKVGLDLLVEFEFRTTTTTGVLLGISSQKMDGMGIEMIDEKLMFHVDNGAGRFTA   2941 - 3010
VYDAGVPGHLCDGQWHKVTANKIKHRIELTVDGNQVEAQSPNPASTSADTNDPVFVGGFPDDLKQFGLTT   3011 - 3080
SIPFRGCIRSLKLTKGTGKPLEVNFAKALELRGVQPVSCPAN                               3081 - 3122
//

Text Mined References (79)

PMID Year Title