Property Summary

NCBI Gene PubMed Count 19
PubMed Score 89.90
PubTator Score 23.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Congenital diaphragmatic hernia 66
Agenesis of corpus callosum 79
Amblyopia 38
Anteverted nostril 186
Anus, Imperforate 43
Atrial Septal Defects 81
Autosomal recessive predisposition 1407
Big calvaria 147
Bilateral fifth finger clinodactyly 109
Broad flat nasal bridge 232
Broad forehead 58
Byzanthine arch palate 194
Cerebral atrophy 175
Choreoathetoid movements 32
Choreoathetosis 32
Cleft Palate 265
Clouding of corneal stroma 49
Coarse facial features 103
Cognitive delay 596
Concave bridge of nose 191
Congenital Epicanthus 175
Congenital hypoplasia of lung 47
Corneal Opacity 52
Cryptorchidism 287
Curvature of little finger 109
Decreased tendon reflex 121
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Dull intelligence 634
Epilepsy 775
Excess nuchal skin 30
Fryns syndrome 1
Gastroesophageal reflux disease 108
Global developmental delay 596
Global developmental delay, severe 47
Heart Septal Defects 23
Heartburn 76
Hydronephrosis 87
Hyperreflexia 208
Hypoplastic fingernails 11
Hypoplastic mandible condyle 273
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 998
Inverted V-shaped upper lip 19
Large fleshy ears 2
Long philtrum 137
Low intelligence 634
Low-set, posteriorly rotated ears 109
Macrostomia 70
Mandibular hypoplasia 273
Median cleft lip 7
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Micrognathism 273
Multicystic Dysplastic Kidney 51
Muscle hypotonia 562
Narrow forehead 34
Nasal bridge wide 232
Nipples absent or rudimentary 3
Non-midline cleft lip 6
Nystagmus 309
Open mouth 44
Orbital separation excessive 240
Overfolded helix 22
Patent ductus arteriosus 86
Polyhydramnios 106
Poor school performance 634
Prenatal onset 137
Seizures 584
Severe psychomotor retardation 47
Short distal phalanges 49
Short neck 139
Short nose 127
Small nose 127
Stricture of anus 12
Tented mouth 19
Tented upper lip 19
Testicular Hydrocele 7
Tetralogy of Fallot 66
Thickened facial skin with coarse facial features 103
Thin lips 49
Tremor 112
Uranostaphyloschisis 162
Wide spaced nipples 46
Disease Target Count P-value
ependymoma 4559 2.9e-10
Pick disease 1856 9.8e-06
tuberculosis 1963 9.9e-06
malignant mesothelioma 3135 4.0e-05
ovarian cancer 8297 5.9e-05
osteosarcoma 7766 1.9e-02
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.8
Disease Target Count Z-score Confidence
Paget's disease of bone 35 0.0 1.2
Disease Target Count
FRNS 1

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma 1.100 2.9e-10
malignant mesothelioma 1.200 4.0e-05
osteosarcoma -1.253 1.9e-02
ovarian cancer -1.300 5.9e-05
Pick disease -1.100 9.8e-06
tuberculosis 1.100 9.9e-06

Gene RIF (10)

AA Sequence

MLLFFTLGLLIHFVFFASIFDIYFTSPLVHGMTPQFTPLPPPARRLVLFVADGLRADALYELDENGNSRA      1 - 70
PFIRNIIMHEGSWGISHTRVPTESRPGHVALIAGFYEDVSAVAKGWKENPVEFDSLFNESKYTWSWGSPD     71 - 140
ILPMFAKGASGDHVYTYSYDAKREDFGAQDATKLDTWVFDNVKDFFHHARNNQSLFSKINEEKIVFFLHL    141 - 210
LGIDTNGHAHRPSSRDYKHNIKKVDDGVKEIVSMFNHFYGNDGKTTFIFTSDHGMTDWGSHGAGHPSETL    211 - 280
TPLVTWGAGIKYPQRVSAQQFDDAFLKEWRLENWKRLDVNQADIAPLMTSLIGVPFPLNSVGILPVDYLN    281 - 350
NTDLFKAESMFTNAVQILEQFKVKMTQKKEVTLPFLFTPFKLLSDSKQFNILRKARSYIKHRKFDEVVSL    351 - 420
CKELIHLALKGLSYYHTYDRFFLGVNVVIGFVGWISYASLLIIKSHSNLIKGVSKEVKKPSHLLPCSFVA    421 - 490
IGILVAFFLLIQACPWTYYVYGLLPLPIWYAVLREFQVIQDLVVSVLTYPLSHFVGYLLAFTLGIEVLVL    491 - 560
SFFYRYMLTAGLTAFAAWPFLTRLWTRAKMTSLSWTFFSLLLAVFPLMPVVGRKPDISLVMGAGLLVLLL    561 - 630
SLCVVTSLMKRKDSFIKEELLVHLLQVLSTVLSMYVVYSTQSSLLRKQGLPLMNQIISWATLASSLVVPL    631 - 700
LSSPVLFQRLFSILLSLMSTYLLLSTGYEALFPLVLSCLMFVWINIEQETLQQSGVCCKQKLTSIQFSYN    701 - 770
TDITQFRQLYLDDIRRAFFLVFFLVTAFFGTGNIASINSFDLASVYCFLTVFSPFMMGALMMWKILIPFV    771 - 840
LVMCAFEAVQLTTQLSSKSLFLIVLVISDIMALHFFFLVKDYGSWLDIGTSISHYVIVMSMTIFLVFLNG    841 - 910
LAQLLTTKKLRLCGKPKSHFM                                                     911 - 931
//

Text Mined References (21)

PMID Year Title