Property Summary

NCBI Gene PubMed Count 167
PubMed Score 691.13
PubTator Score 579.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
'Mottled' pigmentation of the trunk and proximal extremities 1
Abnormal blistering of the skin 54
Abnormal pigmentation 25
Abnormal respiratory patterns 20
Adenoid Cystic Carcinoma 99
Animal Mammary Neoplasms 136
Atrophic condition of skin 25
Atrophic scar 18
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blister of skin 54
Defective tooth enamel 31
Discrete 2 to 5-mm hyper- and hypopigmented macules 1
Dystrophia unguium 53
Dystrophic tooth enamel 31
Ecchymosis 66
Enamel abnormalities 31
Epidermolysis Bullosa Herpetiformis Dowling-Meara 2
Epidermolysis Bullosa Simplex Kobner 2
Erythema 58
Exanthema 43
Flushing 60
Growth delay 114
Growth failure 114
Growth retardation 115
Haemorrhage subcutaneous 10
Highly variable severity 157
Hyperhidrosis disorder 81
Hyperkeratosis, generalized 14
Increased sweating 81
Increased tendency to bruise 66
Leukokeratosis 19
Leukoplakia, Oral 20
Mammary Neoplasms 425
Milium Cyst 16
Nail Diseases 24
Nail abnormality 22
Nail dysplasia 52
Neonatal onset 21
Neoplastic Cell Transformation 89
Onychogryposis 13
Ophthalmoparesis 11
Palmoplantar blistering 3
Palmoplantar keratosis 74
Poor growth 114
Precociously senile appearance 18
Prenatal onset 139
Progressive reticulate hyperpigmentation 1
Punctate palmoplantar hyperkeratosis 1
Recurrent skin infections 21
Reticular pigmentation pattern 7
Reticulate skin pigmentation 7
Ridged nails 14
Skin Vesicle 5
Skin bulla 54
Sweating 81
Variable expressivity 157
Very poor growth 114
Weber-Cockayne Syndrome 2
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Skin cancer 469 0.0 3.0
Disease Target Count Z-score Confidence
Epidermolysis bullosa 21 5.818 2.9

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer -4.600 1.6e-21
breast carcinoma -1.600 2.6e-02
esophageal adenocarcinoma -4.400 2.3e-02
group 3 medulloblastoma -1.100 8.2e-03
interstitial cystitis -1.400 4.2e-02
lung cancer 1.900 4.7e-03
non-small cell lung cancer 4.731 4.4e-11
osteosarcoma 1.040 1.6e-03
posterior fossa group B ependymoma 1.100 1.7e-02

 GWAS Trait (1)

Gene RIF (100)

AA Sequence

MSRQSSVSFRSGGSRSFSTASAITPSVSRTSFTSVSRSGGGGGGGFGRVSLAGACGVGGYGSRSLYNLGG      1 - 70
SKRISISTSGGSFRNRFGAGAGGGYGFGGGAGSGFGFGGGAGGGFGLGGGAGFGGGFGGPGFPVCPPGGI     71 - 140
QEVTVNQSLLTPLNLQIDPSIQRVRTEEREQIKTLNNKFASFIDKVRFLEQQNKVLDTKWTLLQEQGTKT    141 - 210
VRQNLEPLFEQYINNLRRQLDSIVGERGRLDSELRNMQDLVEDFKNKYEDEINKRTTAENEFVMLKKDVD    211 - 280
AAYMNKVELEAKVDALMDEINFMKMFFDAELSQMQTHVSDTSVVLSMDNNRNLDLDSIIAEVKAQYEEIA    281 - 350
NRSRTEAESWYQTKYEELQQTAGRHGDDLRNTKHEISEMNRMIQRLRAEIDNVKKQCANLQNAIADAEQR    351 - 420
GELALKDARNKLAELEEALQKAKQDMARLLREYQELMNTKLALDVEIATYRKLLEGEECRLSGEGVGPVN    421 - 490
ISVVTSSVSSGYGSGSGYGGGLGGGLGGGLGGGLAGGSSGSYYSSSSGGVGLGGGLSVGGSGFSASSGRG    491 - 560
LGVGFGSGGGSSSSVKFVSTTSSSRKSFKS                                            561 - 590
//

Text Mined References (173)

PMID Year Title