Property Summary

NCBI Gene PubMed Count 31
PubMed Score 78.02
PubTator Score 66.20

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Mental Retardation, X-Linked, Syndromic, Christianson Type 1 0.0 0.0
Disease Target Count
Autistic Disorder 364
Ophthalmoplegia 106
Absent speech 43
Adducted thumb 22
Ataxia, Truncal 21
Atrophy of cerebellum 103
Bushy eyebrows 49
Cachexia 50
Cerebellar degeneration 103
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Class III malocclusion 78
Cognitive delay 608
Conspicuously happy disposition 2
Contracture 96
Contracture of joint 93
Deglutition Disorders 132
Developmental regression 95
Dilated ventricles (finding) 121
Drooling 27
Dystonia 164
Dystonic disease 106
Fecal Incontinence 7
Feeding difficulties in infancy 175
Flexion contracture 93
Flexion contractures of joints 93
Foot Deformities 30
Gait Ataxia 51
Gastroesophageal reflux disease 110
Generalized seizures 9
Generalized seizures, recurrent 9
Global developmental delay 608
Global developmental delay, severe 47
Happy demeanor 3
Heartburn 78
Hyperactive behavior 91
Hypertrophy of lower jaw 78
Hypoplasia or absence of the corpus callosum 23
Inappropriate laughter 4
Increased size of mandible 78
Infratentorial atrophy 103
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Long nose 15
Loss of ability to walk in first decade 1
Loss of developmental milestones 95
Macrotia 87
Mandibular hyperplasia 78
Mental and motor retardation 608
Mental deterioration in childhood 95
Mental retardation X-linked, South African type 1
Muscle hypotonia 571
Mutism 17
Narrow face 54
Narrow thorax 53
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuronal loss 25
Nystagmus 317
Open mouth 45
Pectus excavatum 100
Profound Mental Retardation 31
Profound intellectual disabilities 31
Progressive mental retardation 37
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Seizures, tonic-clonic, photosensitive 1
Severe mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Sialorrhea 28
Skeletal muscle atrophy 139
Sleep disturbances 37
Slender fingers 5
Small head 374
Spasm 6
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Thin face 54
Underweight 17
Urinary Incontinence 50
Weight decreased 103
Weight less than 3rd percentile 17
X-linked dominant 57
mandibular excess (physical finding) 78
muscle degeneration 139
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Christianson syndrome 2 0.0 5.0
Disease Target Count Z-score Confidence
Intellectual disability 1016 4.643 2.3
Epilepsy 792 3.872 1.9

Expression

  Differential Expression (12)

Disease log2 FC p
adult high grade glioma -1.600 6.9e-06
astrocytic glioma -1.200 3.6e-02
atypical teratoid / rhabdoid tumor -1.900 9.0e-06
Breast cancer -1.200 9.1e-04
ependymoma -1.900 2.0e-02
glioblastoma -1.300 1.2e-06
intraductal papillary-mucinous neoplasm ... 1.200 3.3e-02
lung cancer -1.200 3.8e-02
medulloblastoma -1.100 1.4e-04
medulloblastoma, large-cell -2.500 1.8e-05
ovarian cancer -1.100 1.0e-04
Pick disease -1.300 1.8e-02

Gene RIF (23)

AA Sequence

MARRGWRRAPLRRGVGSSPRARRLMRPLWLLLAVGVFDWAGASDGGGGEARAMDEEIVSEKQAEESHRQD      1 - 70
SANLLIFILLLTLTILTIWLFKHRRARFLHETGLAMIYGLLVGLVLRYGIHVPSDVNNVTLSCEVQSSPT     71 - 140
TLLVTFDPEVFFNILLPPIIFYAGYSLKRRHFFRNLGSILAYAFLGTAISCFVIGSIMYGCVTLMKVTGQ    141 - 210
LAGDFYFTDCLLFGAIVSATDPVTVLAIFHELQVDVELYALLFGESVLNDAVAIVLSSSIVAYQPAGDNS    211 - 280
HTFDVTAMFKSIGIFLGIFSGSFAMGAATGVVTALVTKFTKLREFQLLETGLFFLMSWSTFLLAEAWGFT    281 - 350
GVVAVLFCGITQAHYTYNNLSTESQHRTKQLFELLNFLAENFIFSYMGLTLFTFQNHVFNPTFVVGAFVA    351 - 420
IFLGRAANIYPLSLLLNLGRRSKIGSNFQHMMMFAGLRGAMAFALAIRDTATYARQMMFSTTLLIVFFTV    421 - 490
WVFGGGTTAMLSCLHIRVGVDSDQEHLGVPENERRTTKAESAWLFRMWYNFDHNYLKPLLTHSGPPLTTT    491 - 560
LPACCGPIARCLTSPQAYENQEQLKDDDSDLILNDGDISLTYGDSTVNTEPATSSAPRRFMGNSSEDALD    561 - 630
RELAFGDHELVIRGTRLVLPMDDSEPPLNLLDNTRHGPA                                   631 - 669
//

Text Mined References (36)

PMID Year Title