Property Summary

NCBI Gene PubMed Count 24
PubMed Score 210.00
PubTator Score 6142.78

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
ATRIOVENTRICULAR CANAL DEFECT 17
Abnormal vertebral bodies 16
Absence of radius and ulna 15
Absent radius 15
Acquired scoliosis 281
Almond-shaped eyes 23
Anemia 365
Anus, Imperforate 46
Chromosome Breakage 36
Cognitive delay 608
Congenital absence of kidney 31
Congenital anomaly of spine 16
Curvature of spine 282
Decreased platelet count 111
Dilated ventricles (finding) 121
Discordant ventriculoarterial connection 17
Dull intelligence 645
Endocardial Cushion Defects 17
Enlarged kidney 14
Esophageal atresia 43
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hand polydactyly 11
Hemoglobin low 124
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrocephalus 152
Hydronephrosis 89
Increased chromosomal breakage 27
Intellectual disability 1016
Irregular hyperpigmentation 33
Leukopenia 72
Low intelligence 645
Low set ears 181
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Multiple vertebral anomalies 16
Phenotypic variability 150
Poor growth 114
Poor school performance 645
Proximally placed thumbs 17
Pyridoxine-responsive sideroblastic anemia 17
Radial aplasia 15
Radial aplasia/hypoplasia 29
Short palpebral fissure 38
Short stature 531
Short upper arms 16
Small head 374
Thrombocytopenia 197
Thumb aplasia 16
Tracheoesophageal Fistula 36
Urethral atresia 4
Very poor growth 114
X- linked recessive 110
hypopigmented skin patch 59
Disease Target Count P-value
osteosarcoma 7950 1.8e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma -1.191 1.8e-02

Gene RIF (10)

AA Sequence

MTSKQAMSSNEQERLLCYNGEVLVFQLSKGNFADKEPTKTPILHVRRMVFDRGTKVFVQKSTGFFTIKEE      1 - 70
NSHLKIMCCNCVSDFRTGINLPYIVIEKNKKNNVFEYFLLILHSTNKFEMRLSFKLGYEMKDGLRVLNGP     71 - 140
LILWRHVKAFFFISSQTGKVVSVSGNFSSIQWAGEIENLGMVLLGLKECCLSEEECTQEPSKSDYAIWNT    141 - 210
KFCVYSLESQEVLSDIYIIPPAYSSVVTYVHICATEIIKNQLRISLIALTRKNQLISFQNGTPKNVCQLP    211 - 280
FGDPCAVQLMDSGGGNLFFVVSFISNNACAVWKESFQVAAKWEKLSLVLIDDFIGSGTEQVLLLFKDSLN    281 - 350
SDCLTSFKITDLGKINYSSEPSDCNEDDLFEDKQENRYLVVPPLETGLKVCFSSFRELRQHLLLKEKIIS    351 - 420
KSYKALINLVQGKDDNTSSAEEKECLVPLCGEEENSVHILDEKLSDNFQDSEQLVEKIWYRVIDDSLVVG    421 - 490
VKTTSSLKLSLNDVTLSLLMDQAHDSRFRLLKCQNRVIKLSTNPFPAPYLMPCEIGLEAKRVTLTPDSKK    491 - 560
EESFVCEHPSKKECVQIITAVTSLSPLLTFSKFCCTVLLQIMERESGNCPKDRYVVCGRVFLSLEDLSTG    561 - 630
KYLLTFPKKKPIEHMEDLFALLAAFHKSCFQITSPGYALNSMKVWLLEHMKCEIIKEFPEVYFCERPGSF    631 - 700
YGTLFTWKQRTPFEGILIIYSRNQTVMFQCLHNLIRILPINCFLKNLKSGSENFLIDNMAFTLEKELVTL    701 - 770
SSLSSAIAKHESNFMQRCEVSKGKSSVVAAALSDRRENIHPYRKELQREKKKMLQTNLKVSGALYREITL    771 - 840
KVAEVQLKSDFAAQKLSNL                                                       841 - 859
//

Text Mined References (24)

PMID Year Title