Property Summary

Ligand Count 266
NCBI Gene PubMed Count 716
PubMed Score 1399.03
PubTator Score 933.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal behavior 52
Abnormality of the fingernails 51
Abnormality of the metaphyses 48
Abnormally low-pitched voice 6
Absence of septum pellucidum 13
Acquired scoliosis 281
Advanced bone age 35
Big calvaria 147
Broad feet 19
Broad forehead 59
Broad thumbs 28
CLEFT CHIN 9
Calcaneovalgus deformity 8
Class III malocclusion 78
Cognitive delay 608
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital clubfoot 109
Congenital pes cavus 88
Contracture of joint of hand 30
Coxa valga 22
Coxa valga deformity 22
Craniosynostosis 74
Cryptorchidism 296
Curvature of digit 57
Curvature of spine 282
Cutis Laxa 39
Deep philtrum 21
Deep-set nails 2
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed philtrum 21
Diastasis recti 9
Diffuse large B-cell lymphoma 39
Dilation of lateral ventricles 4
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysarthria 192
Dysharmonic bone age 1
Epilepsy 792
Feeding difficulties in infancy 175
Fine hair 42
Flared femoral metaphysis 2
Flared humeral metaphysis 1
Flared humerus 1
Flexion contracture of proximal interphalangeal joint 75
Generalized elastolysis 24
Global developmental delay 608
Hanging skin 24
Hernia, Inguinal 89
Hoarseness 31
Hyperkyphosis 111
Hypertrophy of lower jaw 78
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Hypoplastic toenails 22
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Intellectual disability 1016
Inversion of nipple (disorder) 7
Joint stiffness 84
Juvenile Myelomonocytic Leukemia 21
Kyphosis deformity of spine 114
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large hand 18
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Limited elbow extension 19
Limited knee extension 3
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
MYELODYSPLASTIC SYNDROME 53
Macrotia 87
Mammary Neoplasms 425
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metatarsus Varus 24
Micrognathism 275
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle hypotonia 571
Orbital separation excessive 244
Overriding toe 10
Poor school performance 645
Prominent fingertip pads 6
Radially deviated fingers 38
Redundant skin 28
Retrognathia 54
Round face 45
Round, full face 45
Seizures 596
Short fourth metatarsals 4
Short ribs 30
Slurred speech 7
Sparse hair 59
Speech Delay 112
Speech impairment 112
Strabismus 270
Tall stature 34
Testicular Hydrocele 8
Thin nails 5
Thin, sparse hair 59
Toeing-in 24
Umbilical hernia 93
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Prostate cancer 175 0.0 5.0
Disease Target Count Z-score Confidence
Cancer 2499 6.098 3.0
Polycythemia vera 27 3.123 1.6

Expression

  Differential Expression (29)

Disease log2 FC p
osteosarcoma -2.681 4.3e-03
adrenocortical carcinoma 2.356 7.5e-06
adult high grade glioma 2.700 4.1e-05
astrocytic glioma 1.600 1.7e-02
Astrocytoma, Pilocytic 1.300 1.5e-04
atypical teratoid / rhabdoid tumor 3.300 1.1e-07
Breast cancer 3.400 2.6e-02
breast carcinoma 1.500 1.2e-04
cystic fibrosis and chronic rhinosinusit... 1.139 5.4e-03
ductal carcinoma in situ 2.600 3.8e-04
ependymoma 1.900 3.4e-03
glioblastoma 3.300 1.5e-11
group 3 medulloblastoma 4.800 1.2e-09
interstitial cystitis 1.900 5.0e-03
intraductal papillary-mucinous carcinoma... 3.000 1.0e-04
intraductal papillary-mucinous neoplasm ... 2.600 1.3e-03
invasive ductal carcinoma 2.900 5.4e-04
lung adenocarcinoma 1.200 3.1e-11
lung cancer 2.100 2.8e-02
malignant mesothelioma 2.100 2.5e-08
medulloblastoma, large-cell 3.600 3.7e-06
nasopharyngeal carcinoma 1.400 7.4e-06
non-small cell lung cancer 2.558 9.0e-24
oligodendroglioma 1.600 1.1e-02
ovarian cancer 1.700 1.3e-04
pancreatic cancer 1.200 6.5e-06
primary Sjogren syndrome 1.300 1.5e-02
primitive neuroectodermal tumor 4.100 1.3e-07
psoriasis 1.100 1.0e-28

 OMIM Phenotype (1)

Protein-protein Interaction (9)

PDB (17)

Gene RIF (668)

AA Sequence

MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEWKQRRIQPVHI      1 - 70
LTSVSSLRGTRECSVTSDLDFPTQVIPLKTLNAVASVPIMYSWSPLQQNFMVEDETVLHNIPYMGDEVLD     71 - 140
QDGTFIEELIKNYDGKVHGDRECGFINDEIFVELVNALGQYNDDDDDDDGDDPEEREEKQKDLEDHRDDK    141 - 210
ESRPPRKFPSDKIFEAISSMFPDKGTAEELKEKYKELTEQQLPGALPPECTPNIDGPNAKSVQREQSLHS    211 - 280
FHTLFCRRCFKYDCFLHPFHATPNTYKRKNTETALDNKPCGPQCYQHLEGAKEFAAALTAERIKTPPKRP    281 - 350
GGRRRGRLPNNSSRPSTPTINVLESKDTDSDREAGTETGGENNDKEEEEKKDETSSSSEANSRCQTPIKM    351 - 420
KPNIEPPENVEWSGAEASMFRVLIGTYYDNFCAIARLIGTKTCRQVYEFRVKESSIIAPAPAEDVDTPPR    421 - 490
KKKRKHRLWAAHCRKIQLKKDGSSNHVYNYQPCDHPRQPCDSSCPCVIAQNFCEKFCQCSSECQNRFPGC    491 - 560
RCKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVSCKNCSIQRGSKKHLLLAPSDVAGWGIFIKD    561 - 630
PVQKNEFISEYCGEIISQDEADRRGKVYDKYMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYAKVM    631 - 700
MVNGDHRIGIFAKRAIQTGEELFFDYRYSQADALKYVGIEREMEIP                            701 - 746
//

Text Mined References (738)

PMID Year Title