Property Summary

NCBI Gene PubMed Count 33
PubMed Score 25.39
PubTator Score 14.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Craniolenticulosutural Dysplasia 1 0.0 0.0
Osteoarthritis 184 0.0 0.0
Disease Target Count
Abnormal skeletal development 60
Acquired flat foot 72
Acquired scoliosis 281
Anteverted nostril 191
Autosomal recessive predisposition 1442
Big calvaria 147
Brittle hair 25
Broad flat nasal bridge 236
Coarse hair 31
Convex nasal bridge 57
Cryptorchidism 296
Curvature of spine 282
Decreased calcification of skull 10
Decreased projection of maxilla 66
Decreased projection of midface 105
Decreased size of teeth 62
Decreased width of tooth 59
Defect of skull ossification 10
Deficiency of upper jaw bones 66
Degenerative polyarthritis 115
Delayed closure of the soft spot on the skull 11
Dental caries 164
Early tooth exfoliation 17
Flatfoot 73
Forehead hyperpigmentation 1
Fractured hair 25
Fragile hair 25
Frontal bossing 157
Hyperpigmentation 37
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypoplasia of the maxilla 66
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint laxity 54
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Late closure of anterior fontanel 11
Late tooth eruption 61
Long philtrum 137
Macrostomia 72
Malar flattening 129
Maxillary retrognathia 66
Microdontia (disorder) 59
Midface retrusion 105
Narrow iliac wings 7
Narrow thorax 53
Narrow, high iliac wings 2
Nasal bridge wide 236
Orbital separation excessive 244
Osteochondrodysplasias 72
Posterior Y-sutural cataract 3
Posterior wedging of vertebral bodies 1
Premature tooth loss 17
Prominent nasal bridge 57
Prominent supraorbital ridges 19
Punctate cataract 1
Punctate lenticular opacities 1
Reduced tensile strength of hair 25
Retrusion of upper jaw bones 66
Rotting teeth 73
Rough hair texture 31
Short stature 531
Small midface 105
Smooth philtrum 43
Sparse hair 59
Strawberry nevus of skin 10
Sutural cataract 3
Thin lips 49
Thin upper lip vermilion 67
Thin, sparse hair 59
Tooth hypoplasia 7
Wide anterior fontanel 44
Wide bregma sutures 46
Wide nose 35
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 272 0.0 1.0

Expression

  Differential Expression (13)

Disease log2 FC p
Amyotrophic lateral sclerosis 1.134 2.9e-04
atypical teratoid/rhabdoid tumor 1.100 1.7e-03
Breast cancer 3.200 3.4e-02
gastric carcinoma 1.500 1.2e-02
group 4 medulloblastoma 1.300 3.1e-03
hereditary spastic paraplegia -1.180 3.1e-02
lung adenocarcinoma 1.065 3.6e-03
malignant mesothelioma -1.600 1.1e-04
osteosarcoma 3.680 8.2e-07
ovarian cancer -2.300 3.3e-07
pancreatic cancer 1.200 2.0e-03
pancreatic ductal adenocarcinoma liver m... -1.822 8.8e-04
Rheumatoid arthritis 1.300 4.0e-02

 GO Function (1)

Protein-protein Interaction (1)

Gene RIF (13)

AA Sequence

MTTYLEFIQQNEERDGVRFSWNVWPSSRLEATRMVVPVAALFTPLKERPDLPPIQYEPVLCSRTTCRAVL      1 - 70
NPLCQVDYRAKLWACNFCYQRNQFPPSYAGISELNQPAELLPQFSSIEYVVLRGPQMPLIFLYVVDTCME     71 - 140
DEDLQALKESMQMSLSLLPPTALVGLITFGRMVQVHELGCEGISKSYVFRGTKDLSAKQLQEMLGLSKVP    141 - 210
LTQATRGPQVQQPPPSNRFLQPVQKIDMNLTDLLGELQRDPWPVPQGKRPLRSSGVALSIAVGLLECTFP    211 - 280
NTGARIMMFIGGPATQGPGMVVGDELKTPIRSWHDIDKDNAKYVKKGTKHFEALANRAATTGHVIDIYAC    281 - 350
ALDQTGLLEMKCCPNLTGGYMVMGDSFNTSLFKQTFQRVFTKDMHGQFKMGFGGTLEIKTSREIKISGAI    351 - 420
GPCVSLNSKGPCVSENEIGTGGTCQWKICGLSPTTTLAIYFEVVNQHNAPIPQGGRGAIQFVTQYQHSSG    421 - 490
QRRIRVTTIARNWADAQTQIQNIAASFDQEAAAILMARLAIYRAETEEGPDVLRWLDRQLIRLCQKFGEY    491 - 560
HKDDPSSFRFSETFSLYPQFMFHLRRSSFLQVFNNSPDESSYYRHHFMRQDLTQSLIMIQPILYAYSFSG    561 - 630
PPEPVLLDSSSILADRILLMDTFFQILIYHGETIAQWRKSGYQDMPEYENFRHLLQAPVDDAQEILHSRF    631 - 700
PMPRYIDTEHGGSQARFLLSKVNPSQTHNNMYAWGQESGAPILTDDVSLQVFMDHLKKLAVSSAA         701 - 765
//

Text Mined References (40)

PMID Year Title