Property Summary

NCBI Gene PubMed Count 20
PubMed Score 464.74
PubTator Score 79.40

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Crisponi syndrome 2 0.0 0.0
Disease Target Count
Acquired flat foot 72
Acquired scoliosis 281
Adducted thumb 22
Anteverted nostril 191
Autosomal recessive predisposition 1442
Bell Palsy 58
Byzanthine arch palate 194
Chubby cheeks 50
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital clubfoot 109
Curvature of spine 282
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dyspnea 76
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Feeding difficulties in infancy 175
Flatfoot 73
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Full cheeks 50
Hyperhidrosis disorder 81
Hyperkyphosis 111
Hypernasal voice 39
Hyperplasia of cheeks 50
Hypertrophy of cheeks 50
Hypohidrosis 34
Hypoplastic mandible condyle 275
Impaired cognition 96
Increased sweating 81
Intermittent fever 15
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large face 7
Limited elbow extension 19
Long philtrum 137
Low set ears 181
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 275
Mental impairment 95
Micrognathism 275
Microstomia 78
Muscle Hypertonia 88
Nasal voice 39
Opisthotonus 14
Puffy cheeks 50
Radially deviated fingers 38
Respiratory Insufficiency 132
Respiratory function loss 121
Retrognathia 54
Rotting teeth 73
Short hands 50
Short neck 140
Sudden Cardiac Death 29
Sweating 81
Tapering fingers (finding) 25
Wide nose 35
Disease Target Count Z-score Confidence
cold-induced sweating syndrome 7 7.043 3.5
Disease Target Count
COLD-INDUCED SWEATING SYNDROME 1 3

Expression

  Differential Expression (9)

Disease log2 FC p
adult high grade glioma -1.100 1.1e-02
cystic fibrosis -1.148 1.0e-04
ependymoma 2.900 2.0e-02
fibroadenoma 2.000 2.6e-03
glioblastoma -1.200 2.1e-02
group 4 medulloblastoma -1.300 3.3e-03
interstitial cystitis 1.100 1.4e-03
non-inflammatory breast cancer -2.000 1.1e-02
psoriasis 1.300 1.0e-03

 CSPA Cell Line (2)

Protein-protein Interaction (2)

Gene RIF (9)

AA Sequence

MPAGRRGPAAQSARRPPPLLPLLLLLCVLGAPRAGSGAHTAVISPQDPTLLIGSSLLATCSVHGDPPGAT      1 - 70
AEGLYWTLNGRRLPPELSRVLNASTLALALANLNGSRQRSGDNLVCHARDGSILAGSCLYVGLPPEKPVN     71 - 140
ISCWSKNMKDLTCRWTPGAHGETFLHTNYSLKYKLRWYGQDNTCEEYHTVGPHSCHIPKDLALFTPYEIW    141 - 210
VEATNRLGSARSDVLTLDILDVVTTDPPPDVHVSRVGGLEDQLSVRWVSPPALKDFLFQAKYQIRYRVED    211 - 280
SVDWKVVDDVSNQTSCRLAGLKPGTVYFVQVRCNPFGIYGSKKAGIWSEWSHPTAASTPRSERPGPGGGA    281 - 350
CEPRGGEPSSGPVRRELKQFLGWLKKHAYCSNLSFRLYDQWRAWMQKSHKTRNQDEGILPSGRRGTARGP    351 - 420
AR                                                                        421 - 422
//

Text Mined References (21)

PMID Year Title