Property Summary

NCBI Gene PubMed Count 47
PubMed Score 31.55
PubTator Score 38.06

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 1 0.0 0.0
Disease Target Count
Abnormal blistering of the skin 54
Abnormal pigmentation 25
Abnormality of female internal genitalia 13
Abnormality of the fingernails 51
Abnormality of the pharynx 19
Anemia 365
Anorectal Malformations 8
Aplasia/Hypoplasia of the skin 16
Autosomal recessive predisposition 1442
Blister of skin 54
Blood Coagulation Disorders 42
Bone marrow hypocellularity 20
Cellular immunodeficiency 17
Coagulation abnormalities 27
Cognitive delay 608
Decreased platelet count 111
Dental caries 164
Dystrophia unguium 53
Esophageal Stenosis 15
Fetal Growth Retardation 189
Frequent fractures 53
Gingival Diseases 19
Global developmental delay 608
Hemoglobin low 124
Hemorrhagic Disorders 30
Hyperhidrosis disorder 81
Hyperpigmented macules 42
Hypodontia 81
Hypoplastic-absent toenails 11
Increased fracture rate 53
Increased sweating 81
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Large elongated pulp chamber 14
Leukokeratosis 19
Leukoplakia, Oral 20
Malabsorption 82
Malignant Squamous Cell Neoplasm 17
Mental and motor retardation 608
Nail dysplasia 52
Neutrophil abnormality 20
Pancytopenia 45
Periodontal Diseases 21
Recurrent respiratory infections 141
Rotting teeth 73
Rough bone trabeculation 11
Short stature 531
Skin Ulcer 48
Skin bulla 54
Sparse hair 59
Squamous cell carcinoma 129
Sweating 81
Taurodontism 14
Telangiectasia of the skin 39
Thin, sparse hair 59
Thrombocytopenia 197
Tracheoesophageal Fistula 36
Urethral Stricture 18
Varying degree of multiple fractures 53
hypopigmented skin patch 59
periodontitis 293
Disease Target Count P-value
group 3 medulloblastoma 4104 7.3e-04
ependymoma 4679 4.2e-02

Expression

  Differential Expression (2)

Disease log2 FC p
ependymoma 1.500 4.2e-02
group 3 medulloblastoma 1.200 7.3e-04

 GWAS Trait (1)

Gene RIF (34)

AA Sequence

MKTLETQPLAPDCCPSDQDPAPAHPSPHASPMNKNADSELMPPPPERGDPPRLSPDPVAGSAVSQELREG      1 - 70
DPVSLSTPLETEFGSPSELSPRIEEQELSENTSLPAEEANGSLSEEEANGPELGSGKAMEDTSGEPAAED     71 - 140
EGDTAWNYSFSQLPRFLSGSWSEFSTQPENFLKGCKWAPDGSCILTNSADNILRIYNLPPELYHEGEQVE    141 - 210
YAEMVPVLRMVEGDTIYDYCWYSLMSSAQPDTSYVASSSRENPIHIWDAFTGELRASFRAYNHLDELTAA    211 - 280
HSLCFSPDGSQLFCGFNRTVRVFSTARPGRDCEVRATFAKKQGQSGIISCIAFSPAQPLYACGSYGRSLG    281 - 350
LYAWDDGSPLALLGGHQGGITHLCFHPDGNRFFSGARKDAELLCWDLRQSGYPLWSLGREVTTNQRIYFD    351 - 420
LDPTGQFLVSGSTSGAVSVWDTDGPGNDGKPEPVLSFLPQKDCTNGVSLHPSLPLLATASGQRVFPEPTE    421 - 490
SGDEGEELGLPLLSTRHVHLECRLQLWWCGGAPDSSIPDDHQGEKGQGGTEGGVGELI                491 - 548
//

Text Mined References (56)

PMID Year Title