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 25 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 94
Anophthalmos 12
Anosmia 22
Anterior hypopituitarism 18
Aortic arch dilatation 3
Aplasia/Hypoplasia of the earlobes 10
Aplasia/Hypoplasia of the thymus 4
Atrial Septal Defects 81
Attention deficit hyperactivity disorder 272
Autistic Disorder 358
Autosomal recessive predisposition 1407
Bell Palsy 57
Bifid scrotum 14
Blepharoptosis 229
CHOANAL ATRESIA, POSTERIOR 2
CLEFT CHIN 9
Choanal Atresia 42
Cleft Lip 141
Cleft Palate 265
Coloboma of iris 37
Concave bridge of nose 191
Congenital deafness 180
Congenital hypoplasia of penis 168
Congenital ocular coloboma (disorder) 37
Cryptorchidism 287
Deafness 193
Decreased size of eyeball 94
Deglutition Disorders 128
Delayed Puberty 94
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dull intelligence 634
Duodenal atresia 5
Esophageal atresia 42
Facial Paresis 58
Facial asymmetry 31
Facial muscle weakness of muscles innervated by CN VII 57
Feeding difficulties 127
Fundus coloboma 17
Gastroesophageal reflux disease 108
Gynecomastia 61
Hearing Loss, Partial 180
Heart Septal Defects 23
Heartburn 76
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Horseshoe Kidney 16
Hydronephrosis 87
Hypocalcemia 32
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypothyroidism 115
Hypotrophic malar bone 129
Intellectual disability 998
Interrupted aortic arch 4
Isolated cases 70
Labial hypoplasia 3
Late tooth eruption 59
Low intelligence 634
Low-set, posteriorly rotated ears 109
Lymphopenia 66
Malar flattening 129
Malformed pinnae 36
Mental Retardation 634
Mental deficiency 634
Microphthalmos 95
Microstomia 76
Muscle hypotonia 562
Narrow face 54
Nystagmus 309
Obsessive compulsive behavior 25
Optic Atrophy 239
Overfolded helix 22
Parathyroid hypoplasia 3
Patent ductus arteriosus 86
Phenotypic variability 147
Polyhydramnios 106
Poor school performance 634
Postnatal growth retardation 56
Primary physiologic amenorrhea 52
Pulmonary Stenosis 44
Small testicle 69
Sparse axillary hair 26
Sparse pubic hair 29
Square face 3
Strabismus 265
Tetralogy of Fallot 66
Thin face 54
Thymic hypoplasia or aplasia 4
Umbilical hernia 88
Uranostaphyloschisis 162
Ventricular Septal Defects 113
hearing impairment 194
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