Property Summary

NCBI Gene PubMed Count 31
PubMed Score 5.60
PubTator Score 11.96

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Wolf-Hirschhorn syndrome 32
Abnormally-shaped vertebrae 31
Acquired scoliosis 281
Aplasia/Hypoplasia of the lungs 13
Arachnodactyly 49
Atrial Septal Defects 85
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Calvarial defect 10
Cerebellar Ataxia 304
Claw hand 26
Cleft Lip 141
Cognitive delay 608
Coloboma of iris 38
Congenital Epicanthus 177
Congenital anomaly of the kidney 12
Congenital clubfoot 109
Congenital deafness 185
Congenital diaphragmatic hernia 67
Congenital small ears 48
Cranial defect 10
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Delayed bone age 136
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Epilepsy 792
Failure to gain weight 365
Fetal Growth Retardation 189
Focal absence of scalp tissue 5
Frontal bossing 157
Global developmental delay 608
Hearing Loss, Partial 185
Heart valve disease 39
Hemangioma 69
High anterior hairline 7
High forehead 102
Hyperkyphosis 111
Hypodontia 81
Hypoplasia of thumb 26
Hypoplastic mandible condyle 275
Hypoplastic pubic rami 3
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Kidney Diseases 114
Kyphosis deformity of spine 114
Long narrow head 75
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Optic Atrophy 242
Orbital separation excessive 244
Pediatric failure to thrive 365
Penile hypospadias 106
Polydactyly preaxial type 1 9
Reduced fetal movement 51
Rib fusion 16
Rib segmentation abnormalities 8
Sacral dimples 18
Scalp aplasia cutis congenita 5
Scalp defect 5
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short hallux 16
Short philtrum 53
Skull defect 10
Small head 374
Solitary scalp defect 5
Tall forehead 102
Tethered Cord Syndrome 7
Thick, flared eyebrows 41
Turridolichocephaly 75
VALVULAR ABNORMALITY 12
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Microcephaly 166 3.522 1.8

Expression

  Differential Expression (9)

Disease log2 FC p
adult high grade glioma -2.000 3.6e-04
astrocytic glioma -1.600 1.4e-02
Astrocytoma, Pilocytic -1.700 2.6e-05
atypical teratoid / rhabdoid tumor -1.900 1.3e-04
glioblastoma -1.700 7.5e-07
group 3 medulloblastoma -1.900 5.5e-03
lung cancer 1.100 2.4e-03
medulloblastoma, large-cell -3.200 3.4e-06
primitive neuroectodermal tumor -1.300 3.0e-02

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (14)

AA Sequence

MASMRESDTGLWLHNKLGATDELWAPPSIASLLTAAVIDNIRLCFHGLSSAVKLKLLLGTLHLPRRTVDE      1 - 70
MKGALMEIIQLASLDSDPWVLMVADILKSFPDTGSLNLELEEQNPNVQDILGELREKVGECEASAMLPLE     71 - 140
CQYLNKNALTTLAGPLTPPVKHFQLKRKPKSATLRAELLQKSTETAQQLKRSAGVPFHAKGRGLLRKMDT    141 - 210
TTPLKGIPKQAPFRSPTAPSVFSPTGNRTPIPPSRTLLRKERGVKLLDISELDMVGAGREAKRRRKTLDA    211 - 280
EVVEKPAKEETVVENATPDYAAGLVSTQKLGSLNNEPALPSTSYLPSTPSVVPASSYIPSSETPPAPSSR    281 - 350
EASRPPEEPSAPSPTLPAQFKQRAPMYNSGLSPATPTPAAPTSPLTPTTPPAVAPTTQTPPVAMVAPQTQ    351 - 420
APAQQQPKKNLSLTREQMFAAQEMFKTANKVTRPEKALILGFMAGSRENPCQEQGDVIQIKLSEHTEDLP    421 - 490
KADGQGSTTMLVDTVFEMNYATGQWTRFKKYKPMTNVS                                    491 - 528
//

Text Mined References (38)

PMID Year Title