Property Summary

NCBI Gene PubMed Count 43
PubMed Score 466.80
PubTator Score 275.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the antitragus 5
Abnormality of the hypothalamus-pituitary axis 12
Absent reflex 92
Absent tendon reflex 92
Action Tremor 22
Ataxia, Spinocerebellar 16
Atrophic spinal cord 2
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Axonal neuropathy 27
Babinski Reflex 100
Central heterochromia 1
Cerebellar Ataxia 304
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 2
Cerebellar degeneration 103
Chorioretinal dystrophy 4
Congenital hypoplasia of penis 176
Cryptorchidism 296
Decreased fertility 33
Decreased tendon reflex 122
Decreased visual acuity, progressive 36
Delayed Puberty 97
Distal amyotrophy 51
Distal limb muscle weakness due to peripheral neuropathy 62
Distal lower limb muscle weakness 6
Distal muscle weakness 62
Dull intelligence 645
Dwarfism 37
Electroretinogram abnormal 95
Explosive speech 9
Gait abnormality 135
Gynecomastia 64
Hand deformities 32
Hand polydactyly 11
Hemiplegia and hemiparesis 38
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperreflexia 209
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of scrotum 24
Infratentorial atrophy 103
Intellectual disability 1016
Isolated somatotropin deficiency 30
Kidney Failure 111
Long eyebrows 2
Long eyelashes 37
Low Birth Weights 69
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Muscle hypotonia 571
Nystagmus 317
Obesity 678
Optic Atrophy 242
Peripheral Neuropathy 134
Peripheral axonal neuropathy 18
Phenotypic variability 150
Photodysphoria 121
Photophobia 121
Pigmentary retinal degeneration 11
Poor school performance 645
Progressive disorder 142
Progressive spastic paraplegia 2
Progressive visual loss 36
Reflex, Deep Tendon, Absent 92
Renal Insufficiency 90
Renal failure in adulthood 76
Retinal Dystrophies 33
Retinal exudates 11
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Scanning speech 9
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Small for gestational age (disorder) 69
Spastic Paraplegia 42
Speech Disorders 58
Syndactyly of fingers 48
Terminal tremor 20
nervous system disorder 53
Disease Target Count P-value
non-small cell lung cancer 2890 4.2e-24
osteosarcoma 7950 3.4e-04
diabetes mellitus 1728 2.3e-03
group 3 medulloblastoma 4104 1.2e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Klinefelter's syndrome 56 0.0 4.0
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (4)

Disease log2 FC p
diabetes mellitus -1.100 2.3e-03
group 3 medulloblastoma -1.200 1.2e-02
non-small cell lung cancer -1.549 4.2e-24
osteosarcoma -1.535 3.4e-04

 GO Function (1)

Gene RIF (28)

AA Sequence

MGTSSHGLATNSSGAKVAERDGFQDVLAPGEGSAGRICGAQPVPFVPQVLGVMIGAGVAVVVTAVLILLV      1 - 70
VRRLRVPKTPAPDGPRYRFRKRDKVLFYGRKIMRKVSQSTSSLVDTSVSATSRPRMRKKLKMLNIAKKIL     71 - 140
RIQKETPTLQRKEPPPAVLEADLTEGDLANSHLPSEVLYMLKNVRVLGHFEKPLFLELCRHMVFQRLGQG    141 - 210
DYVFRPGQPDASIYVVQDGLLELCLPGPDGKECVVKEVVPGDSVNSLLSILDVITGHQHPQRTVSARAAR    211 - 280
DSTVLRLPVEAFSAVFTKYPESLVRVVQIIMVRLQRVTFLALHNYLGLTNELFSHEIQPLRLFPSPGLPT    281 - 350
RTSPVRGSKRMVSTSATDEPRETPGRPPDPTGAPLPGPTGDPVKPTSLETPSAPLLSRCVSMPGDISGLQ    351 - 420
GGPRSDFDMAYERGRISVSLQEEASGGSLAAPARTPTQEPREQPAGACEYSYCEDESATGGCPFGPYQGR    421 - 490
QTSSIFEAAKQELAKLMRIEDPSLLNSRVLLHHAKAGTIIARQGDQDVSLHFVLWGCLHVYQRMIDKAED    491 - 560
VCLFVAQPGELVGQLAVLTGEPLIFTLRAQRDCTFLRISKSDFYEIMRAQPSVVLSAAHTVAARMSPFVR    561 - 630
QMDFAIDWTAVEAGRALYRQGDRSDCTYIVLNGRLRSVIQRGSGKKELVGEYGRGDLIGVVEALTRQPRA    631 - 700
TTVHAVRDTELAKLPEGTLGHIKRRYPQVVTRLIHLLSQKILGNLQQLQGPFPAGSGLGVPPHSELTNPA    701 - 770
SNLATVAILPVCAEVPMVAFTLELQHALQAIGPTLLLNSDIIRARLGASALDSIQEFRLSGWLAQQEDAH    771 - 840
RIVLYQTDASLTPWTVRCLRQADCILIVGLGDQEPTLGQLEQMLENTAVRALKQLVLLHREEGAGPTRTV    841 - 910
EWLNMRSWCSGHLHLRCPRRLFSRRSPAKLHELYEKVFSRRADRHSDFSRLARVLTGNTIALVLGGGGAR    911 - 980
GCSHIGVLKALEEAGVPVDLVGGTSIGSFIGALYAEERSASRTKQRAREWAKSMTSVLEPVLDLTYPVTS    981 - 1050
MFTGSAFNRSIHRVFQDKQIEDLWLPYFNVTTDITASAMRVHKDGSLWRYVRASMTLSGYLPPLCDPKDG   1051 - 1120
HLLMDGGYINNLPADIARSMGAKTVIAIDVGSQDETDLSTYGDSLSGWWLLWKRLNPWADKVKVPDMAEI   1121 - 1190
QSRLAYVSCVRQLEVVKSSSYCEYLRPPIDCFKTMDFGKFDQIYDVGYQYGKAVFGGWSRGNVIEKMLTD   1191 - 1260
RRSTDLNESRRADVLAFPSSGFTDLAEIVSRIEPPTSYVSDGCADGEESDCLTEYEEDAGPDCSRDEGGS   1261 - 1330
PEGASPSTASEMEEEKSILRQRRCLPQEPPGSATDA                                     1331 - 1366
//

Text Mined References (51)

PMID Year Title