Property Summary

NCBI Gene PubMed Count 27
PubMed Score 10.32
PubTator Score 8.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of pulmonary valve 23
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 52
Arachnodactyly 49
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Bipolar Disorder 666
Blepharoptosis 231
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
CONOTRUNCAL ANOMALY FACE SYNDROME 9
Chronic otitis media 52
Cleft Palate 271
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital hypoplasia of kidney 32
Congenital hypoplasia of thymus 15
Constipation 181
Convex nasal bridge 57
Corneal Neovascularization 13
Dental caries 164
DiGeorge syndrome 47
Dyschezia 135
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Global developmental delay 608
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 41
Hypoplastic lobules 11
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Long face 71
Long philtrum 137
Low set ears 181
Major Depressive Disorder 301
Malar flattening 129
Mental and motor retardation 608
Mild Mental Retardation 70
Muscle hypotonia 571
Myalgia 54
Nasal bridge wide 236
Nasal voice 39
Occipital myelomeningocele 8
Overfolded helix 24
Persistant truncus arteriosus 17
Platybasia 13
Posterior embryotoxon 28
Potato nose 48
Prominent nasal bridge 57
Rotting teeth 73
Seborrheic dermatitis 31
Short neck 140
Short stature 531
Shprintzen syndrome 9
Small thymus 13
Specific learning disability 47
Telecanthus 62
Tetany 18
Tetralogy of Fallot 67
Unipolar Depression 250
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
ear infection chronic 52
Disease Target Count P-value
ovarian cancer 8520 7.3e-06
intraductal papillary-mucinous adenoma (IPMA) 2955 3.5e-04
astrocytoma 1146 4.6e-03
osteosarcoma 7950 6.5e-03
oligodendroglioma 2850 1.1e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
substance-related disorder 162 0.0 2.1
Disease Target Count
22q11.2 deletion syndrome 8

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytoma 1.300 4.6e-03
intraductal papillary-mucinous adenoma (... 1.100 3.5e-04
oligodendroglioma 1.100 1.1e-02
osteosarcoma -1.124 6.5e-03
ovarian cancer 1.900 7.3e-06

Protein-protein Interaction (1)

Gene RIF (9)

AA Sequence

MNVNQSVPPVPPFGQPQPIYPGYHQSSYGGQSGSTAPAIPYGAYNGPVPGYQQTPPQGMSRAPPSSGAPP      1 - 70
ASTAQAPCGQAAYGQFGQGDVQNGPSSTVQMQRLPGSQPFGSPLAPVGNQPPVLQPYGPPPTSAQVATQL     71 - 140
SGMQISGAVAPAPPSSGLGFGPPTSLASASGSFPNSGLYGSYPQGQAPPLSQAQGHPGIQTPQRSAPSQA    141 - 210
SSFTPPASGGPRLPSMTGPLLPGQSFGGPSVSQPNHVSSPPQALPPGTQMTGPLGPLPPMHSPQQPGYQP    211 - 280
QQNGSFGPARGPQSNYGGPYPAAPTFGSQPGPPQPLPPKRLDPDAIPSPIQVIEDDRNNRGTEPFVTGVR    281 - 350
GQVPPLVTTNFLVKDQGNASPRYIRCTSYNIPCTSDMAKQAQVPLAAVIKPLARLPPEEASPYVVDHGES    351 - 420
GPLRCNRCKAYMCPFMQFIEGGRRFQCCFCSCINDVPPQYFQHLDHTGKRVDAYDRPELSLGSYEFLATV    421 - 490
DYCKNNKFPSPPAFIFMIDVSYNAIRTGLVRLLCEELKSLLDFLPREGGAEESAIRVGFVTYNKVLHFYN    491 - 560
VKSSLAQPQMMVVSDVADMFVPLLDGFLVNVNESRAVITSLLDQIPEMFADTRETETVFVPVIQAGMEAL    561 - 630
KAAECAGKLFLFHTSLPIAEAPGKLKNRDDRKLINTDKEKTLFQPQTGAYQTLAKECVAQGCCVDLFLFP    631 - 700
NQYVDVATLSVVPQLTGGSVYKYASFQVENDQERFLSDLRRDVQKVVGFDAVMRVRTSTGIRAVDFFGAF    701 - 770
YMSNTTDVELAGLDGDKTVTVEFKHDDRLNEESGALLQCALLYTSCAGQRRLRIHNLALNCCTQLADLYR    771 - 840
NCETDTLINYMAKFAYRGVLNSPVKAVRDTLITQCAQILACYRKNCASPSSAGQLILPECMKLLPVYLNC    841 - 910
VLKSDVLQPGAEVTTDDRAYVRQLVTSMDVTETNVFFYPRLLPLTKSPVESTTEPPAVRASEERLSNGDI    911 - 980
YLLENGLNLFLWVGASVQQGVVQSLFSVSSFSQITSGLSVLPVLDNPLSKKVRGLIDSLRAQRSRYMKLT    981 - 1050
VVKQEDKMEMLFKHFLVEDKSLSGGASYVDFLCHMHKEIRQLLS                             1051 - 1094
//

Text Mined References (34)

PMID Year Title