Property Summary

NCBI Gene PubMed Count 25
PubMed Score 43.67
PubTator Score 26.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal helices 11
Abnormal lung lobation 10
Abnormality of the ribs 32
Accessory nipple 11
Acquired scoliosis 281
Advanced bone age 35
Agenesis of corpus callosum 83
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Aplasia/Hypoplasia of the abdominal wall musculature 17
Atrial Septal Defects 85
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Birth length greater than 97th percentile 5
Broad feet 19
Broad flat nasal bridge 236
Broad secondary alveolar ridge 3
Broad thumbs 28
Broad toes 5
Bundle-Branch Block 8
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomyopathies 110
Cerebellar vermis hypoplasia 24
Cervical rib 4
Class III malocclusion 78
Cleft Palate 271
Coarse facial features 108
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital deafness 185
Congenital diaphragmatic hernia 67
Congenital malrotation of intestine 16
Congenital omphalocele 20
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Cystic kidney 30
Deafness 198
Death in early childhood 82
Death in infancy 82
Defect of vertebral segmentation 17
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diastasis recti 9
Dilatation of ureter 15
Discordant ventriculoarterial connection 17
Double ureter 6
Downward slant of palpebral fissure 158
Duplication of renal pelvis 2
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated IgE 10
Enlarged kidney 14
Flared iliac wings 13
Flexion contracture of proximal interphalangeal joint 75
Fused vertebrae 25
Hearing Loss, Partial 185
Hepatomegaly 285
Hernia, Inguinal 89
High, narrow palate 32
Hydrocephalus 152
Hydronephrosis 89
Hypertrophy of lower jaw 78
Hypoglycemia 152
Hypoplastic feet 66
Hypoplastic toes 29
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Islets of Langerhans hyperplasia 11
Low-set, posteriorly rotated ears 110
Macroglossia 65
Macrostomia 72
Malocclusion 57
Mandibular hyperplasia 78
Meckel Diverticulum 5
Micronychia (disorder) 24
Multicystic Dysplastic Kidney 52
Muscle hypotonia 571
Nail dysplasia 52
Narrow sacroiliac notch 4
Nasal bridge wide 236
Neck webbing 35
Nephroblastoma 51
Orbital separation excessive 244
Patent ductus arteriosus 90
Pectus excavatum 100
Penile hypospadias 106
Polyhydramnios 108
Polysplenia 7
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Preauricular skin tag 19
Prolonged QT interval 15
Pulmonary Stenosis 45
Renal cyst 30
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 3
Short distal phalanges 50
Short hands 50
Short index finger 6
Short neck 140
Short nose 132
Shortened sacroiliac notches 4
Simple syndactyly of fingers - first web 9
Six lumbar vertebrae 2
Skin tag on the posterior cheek 19
Small nose 132
Somatic mutation 61
Spade-like hand 16
Speech Disorders 58
Spinal fusion 25
Splenomegaly 190
Submucous cleft lip 2
Syndactyly of fingers 48
Syndactyly of the toes 45
Tall stature 34
Thickened facial skin with coarse facial features 108
Two carpal ossification centers present at birth 2
Ulnar polydactyly of fingers 47
Umbilical hernia 93
Uranostaphyloschisis 167
Uroureter 15
Ventricular Septal Defects 119
Vertebral body fusion 25
X- linked recessive 110
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Robinow syndrome 11 0.0 5.0
Disease Target Count Z-score Confidence
Perlman syndrome 9 3.791 1.9
Hypermobility syndrome 17 3.495 1.7

Expression

  Differential Expression (18)

Disease log2 FC p
Astrocytoma, Pilocytic 1.100 3.0e-03
atypical teratoid / rhabdoid tumor 2.500 1.0e-04
Breast cancer 1.300 1.1e-04
diabetes mellitus -1.300 6.7e-03
ductal carcinoma in situ 1.300 3.6e-02
ependymoma 2.300 1.5e-11
glioblastoma 1.100 2.0e-03
group 4 medulloblastoma -1.400 6.5e-05
Hydrolethalus syndrome -1.298 2.9e-02
lung adenocarcinoma 1.690 9.4e-06
lung cancer -1.400 3.8e-03
lung carcinoma -1.900 1.7e-29
malignant mesothelioma 3.100 1.5e-08
osteosarcoma 2.796 2.3e-05
ovarian cancer -1.900 1.6e-06
pediatric high grade glioma 1.300 4.8e-05
primitive neuroectodermal tumor 1.600 4.9e-02
psoriasis -1.100 8.1e-09

 CSPA Cell Line (3)

Protein-protein Interaction (2)

Gene RIF (7)

AA Sequence

MARFGLPALLCTLAVLSAALLAAELKSKSCSEVRRLYVSKGFNKNDAPLHEINGDHLKICPQGSTCCSQE      1 - 70
MEEKYSLQSKDDFKSVVSEQCNHLQAVFASRYKKFDEFFKELLENAEKSLNDMFVKTYGHLYMQNSELFK     71 - 140
DLFVELKRYYVVGNVNLEEMLNDFWARLLERMFRLVNSQYHFTDEYLECVSKYTEQLKPFGDVPRKLKLQ    141 - 210
VTRAFVAARTFAQGLAVAGDVVSKVSVVNPTAQCTHALLKMIYCSHCRGLVTVKPCYNYCSNIMRGCLAN    211 - 280
QGDLDFEWNNFIDAMLMVAERLEGPFNIESVMDPIDVKISDAIMNMQDNSVQVSQKVFQGCGPPKPLPAG    281 - 350
RISRSISESAFSARFRPHHPEERPTTAAGTSLDRLVTDVKEKLKQAKKFWSSLPSNVCNDERMAAGNGNE    351 - 420
DDCWNGKGKSRYLFAVTGNGLANQGNNPEVQVDTSKPDILILRQIMALRVMTSKMKNAYNGNDVDFFDIS    421 - 490
DESSGEGSGSGCEYQQCPSEFDYNATDHAGKSANEKADSAGVRPGAQAYLLTVFCILFLVMQREWR        491 - 556
//

Text Mined References (25)

PMID Year Title