Property Summary

NCBI Gene PubMed Count 38
PubMed Score 48.91
PubTator Score 23.02

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
CHARGE syndrome 26 3.318 1.7
Idiopathic hypogonadotropic hypogonadism 21 0.0 0.0
Disease Target Count
Abnormality of aortic valve 9
Abnormality of female internal genitalia 13
Abnormality of the inner ear 2
Abnormality of the soft palate 3
Abnormally small eyeball 97
Anophthalmos 13
Anosmia 22
Anterior hypopituitarism 18
Aortic arch dilatation 3
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the thymus 4
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Autistic Disorder 364
Autosomal recessive predisposition 1442
Bell Palsy 58
Bifid scrotum 16
Blepharoptosis 231
CHOANAL ATRESIA, POSTERIOR 2
CLEFT CHIN 9
Choanal Atresia 42
Cleft Lip 141
Cleft Palate 271
Coloboma of iris 38
Concave bridge of nose 195
Congenital deafness 185
Congenital hypoplasia of penis 176
Congenital ocular coloboma (disorder) 40
Cryptorchidism 296
Deafness 198
Decreased size of eyeball 97
Deglutition Disorders 132
Delayed Puberty 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dull intelligence 645
Duodenal atresia 6
Esophageal atresia 43
Facial Paresis 59
Facial asymmetry 32
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Fundus coloboma 18
Gastroesophageal reflux disease 110
Gynecomastia 64
Hearing Loss, Partial 185
Heart Septal Defects 24
Heartburn 78
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Horseshoe Kidney 16
Hydronephrosis 89
Hypocalcemia 32
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypothyroidism 122
Hypotrophic malar bone 129
Intellectual disability 1016
Interrupted aortic arch 4
Isolated cases 72
Labial hypoplasia 3
Late tooth eruption 61
Low intelligence 645
Low-set, posteriorly rotated ears 110
Lymphopenia 67
Malar flattening 129
Malformed pinnae 37
Mental Retardation 645
Mental deficiency 645
Microphthalmos 100
Microstomia 78
Muscle hypotonia 571
Narrow face 54
Nystagmus 317
Obsessive compulsive behavior 25
Optic Atrophy 242
Overfolded helix 24
Parathyroid hypoplasia 3
Patent ductus arteriosus 90
Phenotypic variability 150
Polyhydramnios 108
Poor school performance 645
Postnatal growth retardation 57
Primary physiologic amenorrhea 55
Pulmonary Stenosis 45
Small testicle 75
Sparse axillary hair 28
Sparse pubic hair 31
Square face 3
Strabismus 270
Tetralogy of Fallot 67
Thin face 54
Thymic hypoplasia or aplasia 4
Umbilical hernia 93
Uranostaphyloschisis 167
Ventricular Septal Defects 119
hearing impairment 199
obsessive-compulsive disorder 61
Disease Target Count
CHARGE association 2

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -1.400 3.1e-02
astrocytic glioma -1.400 6.5e-03
Astrocytoma, Pilocytic 3.200 3.0e-06
Breast cancer -1.400 5.4e-04
colon cancer -1.400 1.2e-07
ependymoma -1.400 1.2e-02
interstitial cystitis -2.400 3.3e-04
lung adenocarcinoma -1.100 9.7e-05
lung cancer -1.100 3.1e-03
malignant mesothelioma 1.400 1.0e-06
medulloblastoma -1.400 4.5e-03
medulloblastoma, large-cell -2.200 1.1e-03
non-small cell lung carcinoma -1.200 8.6e-12
oligodendroglioma -1.300 1.6e-02
psoriasis -2.600 2.9e-04

Protein-protein Interaction (2)

Gene RIF (28)

AA Sequence

MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKELLNLNRTSIFHSPFGFLDLHTMLLDEYQERL      1 - 70
FVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVRVLHHYNRTHLLTCGTGAFDP     71 - 140
VCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFISTLIGSELFAGLYSDYWSRDAAIFRSMGRLA    141 - 210
HIRTEHDDERLLKEPKFVGSYMIPDNEDRDDNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRIL    211 - 280
VNKWSTFLKARLVCSVPGMNGIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIR    281 - 350
AAFNGPYAHKEGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHK    351 - 420
KPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILEELQIFKDPVP    421 - 490
IISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWDGISCSRYYPTGTHAKRRFRR    491 - 560
QDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLLECTPRSLQAKVIWFVQKGRETRKEEVKTDD    561 - 630
RVVKMDLGLLFLRLHKSDAGTYFCQTVEHSFVHTVRKITLEVVEEEKVEDMFNKDDEEDRHHRMPCPAQS    631 - 700
SISQGAKPWYKEFLQLIGYSNFQRVEEYCEKVWCTDRKRKKLKMSPSKWKYANPQEKKLRSKPEHYRLPR    701 - 770
HTLDS                                                                     771 - 775
//

Text Mined References (38)

PMID Year Title