Property Summary

NCBI Gene PubMed Count 70
PubMed Score 275.23
PubTator Score 99.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormally-shaped vertebrae 31
Absence of septum pellucidum 13
Accessory proximal metacarpal ossification centers 7
Accessory spleen 7
Acquired scoliosis 281
Aplasia/Hypoplasia of the lungs 13
Arachnodactyly 49
Atrial Septal Defects 85
Auricular malformation 41
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Calvarial defect 10
Cerebellar Ataxia 304
Claw hand 26
Cleft Lip 141
Cleft Palate 271
Cognitive delay 608
Coloboma of iris 38
Congenital Epicanthus 177
Congenital anomaly of the kidney 12
Congenital clubfoot 109
Congenital deafness 185
Congenital diaphragmatic hernia 67
Congenital ectopic pupil 7
Congenital small ears 48
Convex nasal ridge 37
Cranial defect 10
Craniofacial asymmetry 5
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased muscle mass 28
Delayed bone age 136
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Epilepsy 792
Exophthalmos 112
Failure to gain weight 365
Fetal Growth Retardation 189
Focal absence of scalp tissue 5
Frontal bossing 157
Fused vertebrae 25
Gastroesophageal reflux disease 110
Generalized hypotonia 37
Global developmental delay 608
Hearing Loss, Partial 185
Heart valve disease 39
Heartburn 78
Hemangioma 69
High anterior hairline 7
High forehead 102
Hyperconvex fingernails 7
Hyperkyphosis 111
Hypodontia 81
Hypoplasia of thumb 26
Hypoplastic mandible condyle 275
Hypoplastic pubic rami 3
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated cases 72
Kidney Diseases 114
Kyphosis deformity of spine 114
Long narrow head 75
Low Birth Weights 69
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Malrotation of small bowel 6
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mental and motor retardation 608
Metatarsus Varus 24
Micrognathism 275
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Narrowing of ear canal 13
Nasal bridge wide 236
Neoplastic Cell Transformation 89
Nystagmus 317
Optic Atrophy 242
Orbital separation excessive 244
Pediatric failure to thrive 365
Penile hypospadias 106
Periventricular cysts 7
Persistent cavum septum pellucidum 10
Polydactyly preaxial type 1 9
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preauricular skin tag 19
Precocious Puberty 28
Precursor Cell Lymphoblastic Leukemia Lymphoma 43
Prominent eyes 96
Prominent glabella 7
Prominent globes 96
Protruding eyes 96
Radioulnar synostosis 35
Reduced fetal movement 51
Rib fusion 16
Rib segmentation abnormalities 8
Rieger syndrome 8
Sacral dimples 18
Scalp aplasia cutis congenita 5
Scalp defect 5
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Severe postnatal growth retardation 16
Short hallux 16
Short philtrum 53
Short stature 531
Short upper lip 7
Simple ear 41
Skin tag on the posterior cheek 19
Skull defect 10
Small for gestational age (disorder) 69
Small head 374
Solitary scalp defect 5
Spinal fusion 25
Stenosis of external auditory canal 13
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Sternal ossification center abnormalities 5
Strabismus 270
Tall forehead 102
Tethered Cord Syndrome 7
Thick, flared eyebrows 41
Toeing-in 24
Turridolichocephaly 75
Uranostaphyloschisis 167
VALVULAR ABNORMALITY 12
Ventricular Septal Defects 119
Vertebral body fusion 25
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Cancer 2499 0.0 4.0

Expression

  Differential Expression (26)

Disease log2 FC p
adrenocortical carcinoma 1.224 1.9e-03
adult high grade glioma -1.400 8.4e-04
Astrocytoma, Pilocytic -1.500 3.1e-07
Atopic dermatitis 1.400 2.5e-06
atypical teratoid / rhabdoid tumor 1.700 9.4e-06
Breast cancer 1.700 5.9e-26
breast carcinoma 1.200 5.1e-30
ductal carcinoma in situ 1.200 2.5e-04
ependymoma -1.200 1.1e-02
gastric carcinoma 1.500 2.8e-02
glioblastoma 1.500 4.6e-08
group 3 medulloblastoma 1.200 2.0e-03
intraductal papillary-mucinous carcinoma... 1.200 1.2e-03
intraductal papillary-mucinous neoplasm ... 1.200 6.0e-03
invasive ductal carcinoma 1.600 4.8e-04
lung adenocarcinoma 1.700 2.4e-12
lung cancer 1.900 1.3e-02
malignant mesothelioma 1.300 1.1e-06
medulloblastoma, large-cell 2.100 3.6e-06
non-small cell lung cancer 1.449 9.6e-22
osteosarcoma -1.949 1.0e-03
ovarian cancer 1.200 1.2e-03
pancreatic ductal adenocarcinoma liver m... 1.160 3.5e-02
pituitary cancer 1.300 2.1e-04
primitive neuroectodermal tumor 1.300 1.2e-03
subependymal giant cell astrocytoma -1.838 5.0e-03

Gene RIF (49)

AA Sequence

MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEGVMQKFNGHDA      1 - 70
LPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNGSPEIKLKITKTYMNGKPLFE     71 - 140
SSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLEQGLVEAALVSKISSPSDKKIPAKKESCPNT    141 - 210
GRDKDHLLKYNVGDLVWSKVSGYPWWPCMVSADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKS    211 - 280
LVAFEGEGQFEKLCQESAKQAPTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVG    281 - 350
DQLHLNPQVAKEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK    351 - 420
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASGEEIEELLRSQ    421 - 490
WSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKKRNHTKRIQDPTEDAEAEDTPRKRLRTDKHSLRKRD    491 - 560
TITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKRNRASTAASSALGFSKSSSPSASLTENEVSD    561 - 630
SPGDEPSESPYESADETQTEVSVSSKKSERGVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLACLGLSRR    631 - 700
PEGRFTCSECASGIHSCFVCKESKTDVKRCVVTQCGKFYHEACVKKYPLTVFESRGFRCPLHSCVSCHAS    701 - 770
NPSNPRPSKGKMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRHHAHVNVSWCFVCSKG    771 - 840
GSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCHPKNVPPNIQK    841 - 910
MKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKNALQEAEARFREIKLQREARE    911 - 980
TQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKPTDENPCGFDSECLNRMLMFECHPQVCPAGE    981 - 1050
FCQNQCFTKRQYPETKIIKTDGKGWGLVAKRDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYML   1051 - 1120
TIDKDRIIDAGPKGNYSRFMNHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTV   1121 - 1190
CRCGASNCSGFLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCT   1191 - 1260
KAYHLSCLGLGKRPFGKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGRSYCCEHDLGA   1261 - 1330
ASVRSTKTEKPPPEPGKPKGKRRRRRGWRRVTEGK                                      1331 - 1365
//

Text Mined References (77)

PMID Year Title