Property Summary

NCBI Gene PubMed Count 97
PubMed Score 1441.10
PubTator Score 1162.38

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Hypohidrosis 34
Hypotrichosis 47
Abnormality of oral mucosa 3
Absence of eyebrows 31
Absent eyebrow 13
Absent nipple (finding) 4
Agenesis of eyebrows 13
Anhidrosis 23
Aplasia of eyebrows 13
Aplasia/Hypoplasia of the eyebrow 31
Brittle hair 25
Christ-Siemens-Touraine syndrome 3
Concave bridge of nose 195
Decreased projection of maxilla 66
Decreased size of teeth 62
Decreased width of tooth 59
Deficiency of upper jaw bones 66
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Drooping upper lip 4
Dry skin 75
Dysphonia 7
Eczema 45
Everted lower lip vermilion 54
Everted upper lip vermilion 4
Fever 138
Fractured hair 25
Fragile hair 25
Frontal bossing 157
Hoarseness 31
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypodontia 81
Hypoplasia of nipple 16
Hypoplasia of the maxilla 66
Hypoplastic mandible condyle 275
Hypoplastic-absent eccrine sweat glands 1
Hypoplastic-absent sebaceous glands 1
Hypotrophic maxilla 66
Intolerant of heat 7
Koilonychia 7
Large elongated pulp chamber 14
Late tooth eruption 61
Madarosis of eyebrow 13
Mandibular hypoplasia 275
Maxillary retrognathia 66
Microdontia (disorder) 59
Micrognathism 275
Missing more than six teeth 22
Oligodontia 24
Peg-shaped teeth 8
Periorbital hyperpigmentation 2
Periorbital wrinkles 2
Pointed teeth 8
Prominent supraorbital ridges 19
Protruding lower lip 54
Protruding upper lip 4
Reduced tensile strength of hair 25
Respiratory distress 43
Retrusion of upper jaw bones 66
Short lower third of face 9
Short nose 132
Small chin 9
Small nose 132
Soft skin 17
Sparse body hair 32
Sparse eyebrow 42
Sparse eyelashes 31
Sparse or absent eyebrows 31
Sparse/absent eyebrows 31
Taurodontism 14
Thick vermilion border 25
Thin hypoplastic alae nasi 51
Thin skin 47
Velvety skin 17
X- linked recessive 110
X-linked dominant 57
Xerosis 75
Disease Target Count P-value
psoriasis 6694 4.6e-138
malignant mesothelioma 3232 1.7e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6

Expression

  Differential Expression (2)

Disease log2 FC p
malignant mesothelioma 1.300 1.7e-05
psoriasis -1.600 4.6e-138

Gene RIF (68)

AA Sequence

MGYPEVERRELLPAAAPRERGSQGCGCGGAPARAGEGNSCLLFLGFFGLSLALHLLTLCCYLELRSELRR      1 - 70
ERGAESRLGGSGTPGTSGTLSSLGGLDPDSPITSHLGQPSPKQQPLEPGEAALHSDSQDGHQMALLNFFF     71 - 140
PDEKPYSEEESRRVRRNKRSKSNEGADGPVKNKKKGKKAGPPGPNGPPGPPGPPGPQGPPGIPGIPGIPG    141 - 210
TTVMGPPGPPGPPGPQGPPGLQGPSGAADKAGTRENQPAVVHLQGQGSAIQVKNDLSGGVLNDWSRITMN    211 - 280
PKVFKLHPRSGELEVLVDGTYFIYSQVEVYYINFTDFASYEVVVDEKPFLQCTRSIETGKTNYNTCYTAG    281 - 350
VCLLKARQKIAVKMVHADISINMSKHTTFFGAIRLGEAPAS                                 351 - 391
//

Text Mined References (108)

PMID Year Title