Property Summary

NCBI Gene PubMed Count 14
PubMed Score 50.35
PubTator Score 43.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormally small eyeball 97
Accessory rib 10
Acquired scoliosis 281
Basal cell carcinoma 54
Basal cell nevi 23
Big calvaria 147
Brachydactyly 156
Broad flat nasal bridge 236
Calcification of falx cerebri 6
Cardiac fibroma 3
Cardiac rhabdomyoma 5
Cataract 297
Cerebral calcification 43
Class III malocclusion 78
Cleft Lip 141
Cleft Palate 271
Coarse facial features 108
Coloboma of iris 38
Congenital anomaly of neck 19
Congenital fusion of ribs 4
Congenital hemivertebra 25
Curvature of spine 282
Decreased size of eyeball 97
Deformity of neck 19
Frontal bossing 157
Fused vertebrae 25
Glaucoma 239
Hamartomatous stomach polyps 3
Highly variable severity 157
Hydrocephalus 152
Hypertrophy of lower jaw 78
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Irregular ossification of hand bones 3
Keratocystic Odontogenic Tumor 3
Kyphoscoliosis deformity of spine 60
Lens Opacities 231
MACROSTOMIA, ISOLATED 2
Macrostomia 72
Malformation of the neck 19
Mandibular hyperplasia 78
Melanocytic nevus 43
Microphthalmos 100
Milium Cyst 16
Motor delay 147
Nasal bridge wide 236
No development of motor milestones 147
Noncancerous mole 28
Orbital cyst 8
Orbital separation excessive 244
Ovarian Fibromata 3
Palmar pit 4
Parietal bossing 5
Plantar pits 4
Polydactyly 107
Sella Turcica, Bridged 3
Short 4th metacarpal 7
Short ribs 30
Short thumb terminal phalanx 5
Skin tag 14
Sloping shoulders 21
Spinal fusion 25
Sprengel deformity 16
Sternal anomalies 19
Strabismus 270
Thickened facial skin with coarse facial features 108
Uranostaphyloschisis 167
Variable expressivity 157
Vertebral body fusion 25
Vertebral wedging 4
mandibular excess (physical finding) 78
spina bifida 1074
Disease Target Count P-value
facioscapulohumeral dystrophy 288 7.7e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count
BCC1 3
Gorlin syndrome 4

Expression

  Differential Expression (1)

Disease log2 FC p
facioscapulohumeral dystrophy 1.800 7.7e-03

Gene RIF (7)

AA Sequence

MTRSPPLRELPPSYTPPARTAAPQILAGSLKAPLWLRAYFQGLLFSLGCGIQRHCGKVLFLGLLAFGALA      1 - 70
LGLRMAIIETNLEQLWVEVGSRVSQELHYTKEKLGEEAAYTSQMLIQTARQEGENILTPEALGLHLQAAL     71 - 140
TASKVQVSLYGKSWDLNKICYKSGVPLIENGMIERMIEKLFPCVILTPLDCFWEGAKLQGGSAYLPGRPD    141 - 210
IQWTNLDPEQLLEELGPFASLEGFRELLDKAQVGQAYVGRPCLHPDDLHCPPSAPNHHSRQAPNVAHELS    211 - 280
GGCHGFSHKFMHWQEELLLGGMARDPQGELLRAEALQSTFLLMSPRQLYEHFRGDYQTHDIGWSEEQAST    281 - 350
VLQAWQRRFVQLAQEALPENASQQIHAFSSTTLDDILHAFSEVSAARVVGGYLLMLAYACVTMLRWDCAQ    351 - 420
SQGSVGLAGVLLVALAVASGLGLCALLGITFNAATTQVLPFLALGIGVDDVFLLAHAFTEALPGTPLQER    421 - 490
MGECLQRTGTSVVLTSINNMAAFLMAALVPIPALRAFSLQAAIVVGCTFVAVMLVFPAILSLDLRRRHCQ    491 - 560
RLDVLCCFSSPCSAQVIQILPQELGDGTVPVGIAHLTATVQAFTHCEASSQHVVTILPPQAHLVPPPSDP    561 - 630
LGSELFSPGGSTRDLLGQEEETRQKAACKSLPCARWNLAHFARYQFAPLLLQSHAKAIVLVLFGALLGLS    631 - 700
LYGATLVQDGLALTDVVPRGTKEHAFLSAQLRYFSLYEVALVTQGGFDYAHSQRALFDLHQRFSSLKAVL    701 - 770
PPPATQAPRTWLHYYRNWLQGIQAAFDQDWASGRITRHSYRNGSEDGALAYKLLIQTGDAQEPLDFSQLT    771 - 840
TRKLVDREGLIPPELFYMGLTVWVSSDPLGLAASQANFYPPPPEWLHDKYDTTGENLRIPPAQPLEFAQF    841 - 910
PFLLRGLQKTADFVEAIEGARAACAEAGQAGVHAYPSGSPFLFWEQYLGLRRCFLLAVCILLVCTFLVCA    911 - 980
LLLLNPWTAGLIVLVLAMMTVELFGIMGFLGIKLSAIPVVILVASVGIGVEFTVHVALGFLTTQGSRNLR    981 - 1050
AAHALEHTFAPVTDGAISTLLGLLMLAGSHFDFIVRYFFAALTVLTLLGLLHGLVLLPVLLSILGPPPEV   1051 - 1120
IQMYKESPEILSPPAPQGGGLRWGASSSLPQSFARVTTSMTVAIHPPPLPGAYIHPAPDEPPWSPAATSS   1121 - 1190
GNLSSRGPGPATG                                                            1191 - 1203
//

Text Mined References (14)

PMID Year Title