Property Summary

NCBI Gene PubMed Count 76
PubMed Score 726.31
PubTator Score 77.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Intellectual disability 1016
Aggressive behavior 75
Aggressive reaction 75
Arachnodactyly 49
Broad-based gait 19
Bulbous nasal tip 48
Bulbous nose 48
Byzanthine arch palate 194
Cleft Palate, Isolated, And Mental Retardation 2
Cognitive delay 608
Congenital Camptodactyly 40
Congenital clubfoot 109
Convex nasal bridge 57
Decreased projection of midface 105
Delayed speech and language development 112
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Feeding difficulties 127
Fine hair 42
Frontal bossing 157
Global developmental delay 608
Happy demeanor 3
Hernia, Inguinal 89
High forehead 102
Hyperactive behavior 91
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Inadequate arch length for tooth size 45
Language Delay 112
Long face 71
Long nose 15
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Microstomia 78
Midface retrusion 105
Missing more than six teeth 22
Muscle hypotonia 571
Nail dysplasia 52
Neoplastic Cell Transformation 89
Oligodontia 24
Peg-shaped teeth 8
Physical aggression 76
Pointed teeth 8
Poor school performance 645
Potato nose 48
Prominent nasal bridge 57
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short stature 531
Small cell carcinoma of lung 45
Small head 374
Small midface 105
Smooth philtrum 43
Sparse hair 59
Speech Delay 112
Speech impairment 112
Tall forehead 102
Thin lips 49
Thin skin 47
Thin, sparse hair 59
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Uranostaphyloschisis 167
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Refractive error 50 0.0 1.9
ulcerative colitis 1819 0.0 1.0
Disease Target Count
Glass Syndrome 1

Expression

  Differential Expression (16)

Disease log2 FC p
Hydrolethalus syndrome 1.316 4.9e-02
active ulcerative colitis -1.694 1.9e-02
astrocytic glioma -1.900 6.5e-03
atypical teratoid / rhabdoid tumor -2.900 5.2e-04
colon cancer -1.600 1.6e-02
glioblastoma -1.600 6.5e-05
group 4 medulloblastoma -3.100 5.8e-03
intraductal papillary-mucinous neoplasm ... 1.500 1.8e-02
lung cancer 2.500 2.6e-03
malignant mesothelioma 3.600 1.4e-09
medulloblastoma, large-cell -2.900 1.3e-02
ovarian cancer -1.600 6.2e-06
pediatric high grade glioma -1.100 2.7e-03
primitive neuroectodermal tumor -2.500 9.0e-03
progressive supranuclear palsy 1.100 5.9e-03
severe Alzheimer's disease -1.300 4.2e-02

 OMIM Phenotype (1)

Protein-protein Interaction (2)

Gene RIF (60)

AA Sequence

MERRSESPCLRDSPDRRSGSPDVKGPPPVKVARLEQNGSPMGARGRPNGAVAKAVGGLMIPVFCVVEQLD      1 - 70
GSLEYDNREEHAEFVLVRKDVLFSQLVETALLALGYSHSSAAQAQGIIKLGRWNPLPLSYVTDAPDATVA     71 - 140
DMLQDVYHVVTLKIQLQSCSKLEDLPAEQWNHATVRNALKELLKEMNQSTLAKECPLSQSMISSIVNSTY    141 - 210
YANVSATKCQEFGRWYKKYKKIKVERVERENLSDYCVLGQRPMHLPNMNQLASLGKTNEQSPHSQIHHST    211 - 280
PIRNQVPALQPIMSPGLLSPQLSPQLVRQQIAMAHLINQQIAVSRLLAHQHPQAINQQFLNHPPIPRAVK    281 - 350
PEPTNSSVEVSPDIYQQVRDELKRASVSQAVFARVAFNRTQGLLSEILRKEEDPRTASQSLLVNLRAMQN    351 - 420
FLNLPEVERDRIYQDERERSMNPNVSMVSSASSSPSSSRTPQAKTSTPTTDLPIKVDGANINITAAIYDE    421 - 490
IQQEMKRAKVSQALFAKVAANKSQGWLCELLRWKENPSPENRTLWENLCTIRRFLNLPQHERDVIYEEES    491 - 560
RHHHSERMQHVVQLPPEPVQVLHRQQSQPAKESSPPREEAPPPPPPTEDSCAKKPRSRTKISLEALGILQ    561 - 630
SFIHDVGLYPDQEAIHTLSAQLDLPKHTIIKFFQNQRYHVKHHGKLKEHLGSAVDVAEYKDEELLTESEE    631 - 700
NDSEEGSEEMYKVEAEEENADKSKAAPAEIDQR                                         701 - 733
//

Text Mined References (83)

PMID Year Title