Property Summary

NCBI Gene PubMed Count 215
PubMed Score 3311.44
PubTator Score 254.16

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormal sex determination 11
Abnormality of the labia 9
Abnormality of the scrotum 9
Abnormality of the voice 46
Ambiguous Genitalia 24
Ataxia, Appendicular 25
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Axial hypotonia 46
Azoospermia 110
Cerebellar degeneration 103
Chest Pain 38
Clinodactyly of the 5th toe 6
Cognitive delay 608
Congenital hypoplasia of penis 176
Coughing 25
Cryptorchidism 296
Curvature of the little toe 6
Decreased fertility in females 20
Decreased tendon reflex 122
Decreased testosterone in males 28
Delayed Puberty 97
Dull intelligence 645
Dysarthria 192
Elevated follicle stimulating hormone 15
Elevated luteinizing hormone 14
Epilepsy 792
Epileptic encephalopathy 26
Esophageal Neoplasms 69
Esophageal carcinoma 16
Feeding difficulties in infancy 175
Female external genitalia in males 13
Gait Ataxia 51
Global developmental delay 608
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Gynecomastia 64
Highly variable severity 157
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypokinesia 19
Hypoplasia of vagina 14
Infratentorial atrophy 103
Intellectual disability 1016
Juvenile arthritis 126
Low intelligence 645
Low serum estradiol levels 22
Male infertility 206
Mammary Neoplasms 425
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Muscle Rigidity 49
Muscle Spasticity 195
Nausea and vomiting 97
Nystagmus, End-Position 12
Osteoporosis 363
Penile hypospadias 106
Poor school performance 645
Primary hypogonadism 37
Primary physiologic amenorrhea 55
Progressive microcephaly 32
Pure gonadal dysgenesis 19
Rudimentary vagina 14
Seizures 596
Small head 374
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Squamous cell carcinoma 129
Squamous cell carcinoma of esophagus 77
Streak ovary 15
Testicular regression syndrome 9
Urogenital sinus anomaly 15
Variable expressivity 157
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Cancer 2499 6.776 3.4
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (11)

Disease log2 FC p
adult high grade glioma -1.100 4.8e-03
astrocytoma 1.600 2.6e-03
ependymoma 1.100 2.4e-06
group 4 medulloblastoma -1.200 1.2e-04
intraductal papillary-mucinous adenoma (... -1.600 4.8e-04
intraductal papillary-mucinous carcinoma... -1.500 5.8e-03
medulloblastoma, large-cell -1.200 1.0e-03
osteosarcoma 1.299 6.0e-06
ovarian cancer -1.400 4.7e-08
psoriasis 2.400 7.8e-04
tuberculosis 1.200 4.3e-06

Protein-protein Interaction (5)

Gene RIF (192)

AA Sequence

MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDEN      1 - 70
GQVFFVDHINKRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFET     71 - 140
AKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCN    141 - 210
AATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRL    211 - 280
SPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTK    281 - 350
SMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWALSERLIQERLGSQSG          351 - 414
//

Text Mined References (219)

PMID Year Title