Property Summary

Ligand Count 3
NCBI Gene PubMed Count 925
PubMed Score 1137.42
PubTator Score 3208.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal dermatoglyphic pattern 24
Abnormality of cardiovascular system morphology 23
Abnormality of metabolism/homeostasis 134
Abnormally small eyeball 97
Animal Mammary Neoplasms 136
Bilateral fifth finger clinodactyly 110
Bladder Neoplasm 112
Blepharoptosis 231
Brachydactyly 156
Broad flat nasal bridge 236
Cataract 297
Cleft Palate 271
Coloboma of iris 38
Congenital Epicanthus 177
Convex nasal bridge 57
Curvature of little finger 110
Decreased size of eyeball 97
Dull intelligence 645
Ewings sarcoma 8
Familial Retinoblastoma 4
Fetal Growth Retardation 189
Hematologic Neoplasms 22
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Isolated cases 72
Lens Opacities 231
Leukemia 104
Leukocoria 10
Liver carcinoma 240
Low intelligence 645
Low set ears 181
Lung Neoplasms 232
Lymphoma 81
Mammary Neoplasms 425
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Microphthalmos 100
Muscle hypotonia 571
Nasal bridge wide 236
Orbital separation excessive 244
Pancreatic Neoplasm 85
Pineal Gland Neoplasm 1
Poor school performance 645
Precursor Cell Lymphoblastic Leukemia Lymphoma 43
Prominent ear 56
Prominent nasal bridge 57
Protruding ears 56
Retinal Neoplasms 3
Retinal calcification 1
Short neck 140
Short stature 531
Small cell carcinoma of lung 45
Small head 374
Somatic mutation 61
Squamous cell carcinoma of esophagus 77
Syndactyly of fingers 48
Thickened helices 15
Transitional cell carcinoma of bladder 17
Triangular head shape 10
Trigonocephaly 10
Uranostaphyloschisis 167
Vitreous Hemorrhage 6
Wedge shaped head 10
Disease Target Count Z-score Confidence
DOID:2627 94 0.0 1.0
Kidney cancer 2613 0.0 1.1
Ocular cancer 7 0.0 1.1
Disease Target Count Z-score Confidence
Urinary bladder cancer 36 0.0 5.0
lung cancer 4740 0.0 1.1
Disease Target Count Z-score Confidence
Cancer 2499 5.867 2.9
Endometriosis 540 3.312 1.7
Uterine fibroid 28 3.187 1.6

Expression

  Differential Expression (15)

Disease log2 FC p
osteosarcoma 1.371 1.4e-03
acute quadriplegic myopathy 1.068 2.9e-05
astrocytic glioma 1.100 5.8e-03
atypical teratoid / rhabdoid tumor 1.200 1.9e-05
dermatomyositis 1.500 2.9e-03
ependymoma 1.600 1.0e-02
glioblastoma 1.300 2.8e-03
group 4 medulloblastoma 1.600 2.3e-04
juvenile dermatomyositis 1.053 1.7e-09
malignant mesothelioma 1.100 1.7e-03
medulloblastoma, large-cell 2.000 1.1e-05
oligodendroglioma 1.300 6.2e-03
primary Sjogren syndrome 1.100 1.9e-03
primitive neuroectodermal tumor 1.200 2.5e-04
Rheumatoid arthritis 1.100 4.6e-02

Gene RIF (683)

AA Sequence

MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHV      1 - 70
RERAWLTWEKVSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDT     71 - 140
STKVDNAMSRLLKKYDVLFALFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMED    141 - 210
DLVISFQLMLCVLDYFIKLSPPMLLKEPYKTAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKE    211 - 280
HECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKRYEEIYLKNKDLDARLFLDHDKTLQTDSIDS    281 - 350
FETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENLISYFNNCTVNPKESILKRVK    351 - 420
DIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDNIFHMSLLACA    421 - 490
LEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES    491 - 560
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAET    561 - 630
QATSAFQTQKPLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHL    631 - 700
DQIMMCSMYGICKVKNIDLKFKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQ    701 - 770
YASTRPPTLSPIPHIPRSPYKFPSSPLRIPGGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFG    771 - 840
TSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTR    841 - 910
MQKQKMNDSMDTSNKEEK                                                        911 - 928
//

Text Mined References (947)

PMID Year Title