Property Summary

NCBI Gene PubMed Count 198
PubMed Score 307.06
PubTator Score 428.37

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Optic Atrophy 242
Abnormal amplitude of pattern reversal visual evoked potentials 1
Abnormal auditory evoked potential 7
Abnormal color vision 31
Adductor longus contractures 1
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Babinski Reflex 100
Blepharoptosis 231
Blind spot located at fixation point 21
Blue/yellow color vision defect 3
CAPOS syndrome 2
Cerebellar Ataxia 304
Cerebellar degeneration 103
Color Blindness, Blue 3
Color Blindness, Red-Green 4
Color vision defect 33
Color vision defect, severe 31
Contracture of hamstring(s) 1
Contracture of tendo achilles 10
Decreased pain sensation 17
Decreased to absent deep tendon reflexes 42
Degenerative polyarthritis 115
Dull intelligence 645
GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO (finding) 2
Gait abnormality 135
Hearing loss, progressive sensorineural 23
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Horizontal Nystagmus 10
Hyperreflexia 209
Infratentorial atrophy 103
Intellectual disability 1016
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Muscle Spasticity 195
Myopathy 185
Neuropathy 261
Nystagmus 317
Ophthalmoplegia 106
Peripheral Neuropathy 134
Phenotypic variability 150
Poor school performance 645
Progressive spasticity 6
Red/green color vision defect 3
Reduced visual acuity 63
Schizophrenia 1160
Scotoma, Central 21
Scotoma, Centrocecal 11
Sensorineural Hearing Loss (disorder) 284
Strabismus 270
Variation in muscle fiber size 16
Visual Impairment 174
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Chronic progressive external ophthalmoplegia 26 0.0 5.0
Disease Target Count Z-score Confidence
Cardiomyopathy 116 0.0 4.0
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -1.300 1.7e-04
astrocytic glioma -1.500 6.1e-03
Astrocytoma, Pilocytic -1.100 1.2e-05
atypical teratoid / rhabdoid tumor -1.100 1.3e-05
Breast cancer 3.500 2.4e-02
ependymoma -1.700 6.3e-03
glioblastoma -1.200 1.6e-07
malignant mesothelioma 1.200 3.2e-05
medulloblastoma -1.100 8.8e-04
medulloblastoma, large-cell -2.000 2.2e-04
oligodendroglioma -1.400 2.5e-02
osteosarcoma -2.037 3.5e-05
ovarian cancer 1.400 8.5e-03
Pick disease -1.200 7.6e-03
tuberculosis -1.100 1.9e-03

 GWAS Trait (1)

Gene RIF (179)

AA Sequence

MWRLRRAAVACEVCQSLVKHSSGIKGSLPLQKLHLVSRSIYHSHHPTLKLQRPQLRTSFQQFSSLTNLPL      1 - 70
RKLKFSPIKYGYQPRRNFWPARLATRLLKLRYLILGSAVGGGYTAKKTFDQWKDMIPDLSEYKWIVPDIV     71 - 140
WEIDEYIDFEKIRKALPSSEDLVKLAPDFDKIVESLSLLKDFFTSGSPEETAFRATDRGSESDKHFRKVS    141 - 210
DKEKIDQLQEELLHTQLKYQRILERLEKENKELRKLVLQKDDKGIHHRKLKKSLIDMYSEVLDVLSDYDA    211 - 280
SYNTQDHLPRVVVVGDQSAGKTSVLEMIAQARIFPRGSGEMMTRSPVKVTLSEGPHHVALFKDSSREFDL    281 - 350
TKEEDLAALRHEIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGVINTVTSGMAPDTKETIFS    351 - 420
ISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPHGRRTIFVLTKVDLAEKNVASPSRIQQIIEGKL    421 - 490
FPMKALGYFAVVTGKGNSSESIEAIREYEEEFFQNSKLLKTSMLKAHQVTTRNLSLAVSDCFWKMVRESV    491 - 560
EQQADSFKATRFNLETEWKNNYPRLRELDRNELFEKAKNEILDEVISLSQVTPKHWEEILQQSLWERVST    561 - 630
HVIENIYLPAAQTMNSGTFNTTVDIKLKQWTDKQLPNKAVEVAWETLQEEFSRFMTEPKGKEHDDIFDKL    631 - 700
KEAVKEESIKRHKWNDFAEDSLRVIQHNALEDRSISDKQQWDAAIYFMEEALQARLKDTENAIENMVGPD    701 - 770
WKKRWLYWKNRTQEQCVHNETKNELEKMLKCNEEHPAYLASDEITTVRKNLESRGVEVDPSLIKDTWHQV    771 - 840
YRRHFLKTALNHCNLCRRGFYYYQRHFVDSELECNDVVLFWRIQRMLAITANTLRQQLTNTEVRRLEKNV    841 - 910
KEVLEDFAEDGEKKIKLLTGKRVQLAEDLKKVREIQEKLDAFIEALHQEK                        911 - 960
//

Text Mined References (210)

PMID Year Title