Property Summary

NCBI Gene PubMed Count 166
PubMed Score 451.29
PubTator Score 353.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Absent speech 43
Acquired scoliosis 281
Apraxias 27
Attention deficit hyperactivity disorder 278
Bilateral fifth finger clinodactyly 110
Blonde hair 7
Brachycephaly 88
Broad cranium shape 88
Broad-based gait 19
Cerebral atrophy 178
Class III malocclusion 78
Clumsiness 7
Cognitive delay 608
Constipation 181
Curvature of little finger 110
Curvature of spine 282
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Drooling 27
Dull intelligence 645
Duplication 15q11-q13 Syndrome 1
Dyschezia 135
Electroencephalogram abnormal 101
Enophthalmos 75
Exotropia 35
Fair hair 7
Feeding difficulties in infancy 175
Flat back of the head 26
Flat occiput 26
Global developmental delay 608
Hyperactive behavior 91
Hyperreflexia 209
Hypertrophy of lower jaw 78
Hypopigmentation disorder 25
Hypoplasia of the maxilla 66
Hypotrophic maxilla 66
Increased size of mandible 78
Isolated cases 72
Language Delay 112
Low intelligence 645
Macroglossia 65
Macrostomia 72
Mandibular hyperplasia 78
Maxillary retrognathia 66
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Motor delay 147
Muscle hypotonia 571
Myopia 176
No development of motor milestones 147
Nystagmus 317
Obesity 678
Obsessive compulsive behavior 25
Paroxysmal bursts of laughter 2
Poor school performance 645
Postnatal microcephaly 24
Progressive gait ataxia 4
Progressive mental retardation 37
Protrusion of tongue 11
Retrusion of upper jaw bones 66
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Sialorrhea 28
Sleep-wake cycle disturbance 5
Speech Delay 112
Speech impairment 112
Strabismus 270
Sunken eyes 63
Tremor, Limb 2
Wide skull shape 88
Widely spaced teeth 31
blue iris (physical finding) 17
mandibular excess (physical finding) 78
nonverbal 43
obsessive-compulsive disorder 61
Disease Target Count P-value
group 4 medulloblastoma 1855 6.0e-05
ovarian cancer 8520 9.3e-05
psoriasis 6694 1.2e-04
primary Sjogren syndrome 735 1.3e-04
osteosarcoma 7950 2.1e-04
Multiple myeloma 1332 2.3e-04
adult high grade glioma 3801 4.2e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.7

Expression

  Differential Expression (7)

Disease log2 FC p
adult high grade glioma -1.300 4.2e-04
group 4 medulloblastoma 1.100 6.0e-05
Multiple myeloma 1.364 2.3e-04
osteosarcoma -1.095 2.1e-04
ovarian cancer 1.700 9.3e-05
primary Sjogren syndrome 1.100 1.3e-04
psoriasis -1.600 1.2e-04

 OMIM Phenotype (1)

 GWAS Trait (1)

Protein-protein Interaction (4)

Gene RIF (120)

AA Sequence

MEKLHQCYWKSGEPQSDDIEASRMKRAAAKHLIERYYHQLTEGCGNEACTNEFCASCPTFLRMDNNAAAI      1 - 70
KALELYKINAKLCDPHPSKKGASSAYLENSKGAPNNSCSEIKMNKKGARIDFKDVTYLTEEKVYEILELC     71 - 140
REREDYSPLIRVIGRVFSSAEALVQSFRKVKQHTKEELKSLQAKDEDKDEDEKEKAACSAAAMEEDSEAS    141 - 210
SSRIGDSSQGDNNLQKLGPDDVSVDIDAIRRVYTRLLSNEKIETAFLNALVYLSPNVECDLTYHNVYSRD    211 - 280
PNYLNLFIIVMENRNLHSPEYLEMALPLFCKAMSKLPLAAQGKLIRLWSKYNADQIRRMMETFQQLITYK    281 - 350
VISNEFNSRNLVNDDDAIVAASKCLKMVYYANVVGGEVDTNHNEEDDEEPIPESSELTLQELLGEERRNK    351 - 420
KGPRVDPLETELGVKTLDCRKPLIPFEEFINEPLNEVLEMDKDYTFFKVETENKFSFMTCPFILNAVTKN    421 - 490
LGLYYDNRIRMYSERRITVLYSLVQGQQLNPYLRLKVRRDHIIDDALVRLEMIAMENPADLKKQLYVEFE    491 - 560
GEQGVDEGGVSKEFFQLVVEEIFNPDIGMFTYDESTKLFWFNPSSFETEGQFTLIGIVLGLAIYNNCILD    561 - 630
VHFPMVVYRKLMGKKGTFRDLGDSHPVLYQSLKDLLEYEGNVEDDMMITFQISQTDLFGNPMMYDLKENG    631 - 700
DKIPITNENRKEFVNLYSDYILNKSVEKQFKAFRRGFHMVTNESPLKYLFRPEEIELLICGSRNLDFQAL    701 - 770
EETTEYDGGYTRDSVLIREFWEIVHSFTDEQKRLFLQFTTGTDRAPVGGLGKLKMIIAKNGPDTERLPTS    771 - 840
HTCFNVLLLPEYSSKEKLKERLLKAITYAKGFGML                                       841 - 875
//

Text Mined References (175)

PMID Year Title