Property Summary

NCBI Gene PubMed Count 105
PubMed Score 148.40
PubTator Score 108.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Seckel syndrome 34
Abnormally small eyeball 97
Absent earlobe 9
Absent fourth finger distal interphalangeal crease 1
Agenesis of teeth 21
Aggressive behavior 75
Aggressive reaction 75
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bunion 26
Cachexia 50
Cerebellar Hypoplasia 61
Cone-shaped epiphyses 24
Congenital microcephaly 2
Convex nasal ridge 37
Craniosynostosis 74
Curvature of little finger 110
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased width of tooth 59
Defective tooth enamel 31
Delayed bone age 136
Downward slant of palpebral fissure 158
Dull intelligence 645
Dystrophic tooth enamel 31
Enamel abnormalities 31
Fetal Growth Retardation 189
Few cafe-au-lait spots 1
Glaucoma 239
Growth delay 114
Growth failure 114
Growth retardation 115
Hallux Valgus 26
Head circumference small for gestational age 2
Heart murmur 5
Hip Dislocation, Congenital 48
Hyperplasia of nose 23
Hypertrophy of nose 23
Hypoplastic mandible condyle 275
Impaired cognition 96
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint hyperflexibility 78
Large nose 23
Low Birth Weights 69
Low intelligence 645
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Mental impairment 95
Microdontia (disorder) 59
Microglossia 10
Micrognathism 275
Microphthalmos 100
Mild global developmental delay 14
Narrow face 54
Narrow forehead 34
Penile hypospadias 106
Physical aggression 76
Poor growth 114
Poor school performance 645
Precociously senile appearance 18
Psychomotor retardation, mild 14
Reduced number of teeth 21
Retrognathia 54
Sandal gap 24
Short middle phalanx of the 5th finger 13
Short stature 531
Single interphalangeal crease of fifth finger 2
Skull malformation 38
Small for gestational age (disorder) 69
Small head 374
Small tongue 10
Sparse scalp hair 42
Syndactyly (4-5 toes) 3
Thin face 54
Thoracic scoliosis 4
Very poor growth 114
microcephaly-digital anomalies syndrome 1
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Intracranial aneurysm 24 0.0 3.0
tuberculosis 2010 0.0 3.0
Disease Target Count Z-score Confidence
Cancer 2499 3.649 1.8

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma 1.500 4.8e-05
astrocytoma 1.100 3.9e-16
Astrocytoma, Pilocytic 1.100 1.2e-06
atypical teratoid / rhabdoid tumor 1.800 3.7e-05
colon cancer 2.600 5.9e-03
ependymoma 1.300 1.2e-06
glioblastoma 1.700 1.5e-09
group 3 medulloblastoma 1.300 9.4e-04
inflammatory breast cancer -1.500 3.8e-03
lung cancer 3.100 7.6e-05
lung carcinoma 1.100 1.7e-15
medulloblastoma, large-cell 1.500 6.4e-06
nasopharyngeal carcinoma 1.300 1.7e-04
oligodendroglioma 1.200 4.9e-11
ovarian cancer 1.600 2.0e-04
pituitary cancer -1.200 4.5e-04
primitive neuroectodermal tumor 1.200 1.6e-04
subependymal giant cell astrocytoma 2.028 1.7e-02

Gene RIF (64)

AA Sequence

MNISGSSCGSPNSADTSSDFKDLWTKLKECHDREVQGLQVKVTKLKQERILDAQRLEEFFTKNQQLREQQ      1 - 70
KVLHETIKVLEDRLRAGLCDRCAVTEEHMRKKQQEFENIRQQNLKLITELMNERNTLQEENKKLSEQLQQ     71 - 140
KIENDQQHQAAELECEEDVIPDSPITAFSFSGVNRLRRKENPHVRYIEQTHTKLEHSVCANEMRKVSKSS    141 - 210
THPQHNPNENEILVADTYDQSQSPMAKAHGTSSYTPDKSSFNLATVVAETLGLGVQEESETQGPMSPLGD    211 - 280
ELYHCLEGNHKKQPFEESTRNTEDSLRFSDSTSKTPPQEELPTRVSSPVFGATSSIKSGLDLNTSLSPSL    281 - 350
LQPGKKKHLKTLPFSNTCISRLEKTRSKSEDSALFTHHSLGSEVNKIIIQSSNKQILINKNISESLGEQN    351 - 420
RTEYGKDSNTDKHLEPLKSLGGRTSKRKKTEEESEHEVSCPQASFDKENAFPFPMDNQFSMNGDCVMDKP    421 - 490
LDLSDRFSAIQRQEKSQGSETSKNKFRQVTLYEALKTIPKGFSSSRKASDGNCTLPKDSPGEPCSQECII    491 - 560
LQPLNKCSPDNKPSLQIKEENAVFKIPLRPRESLETENVLDDIKSAGSHEPIKIQTRSDHGGCELASVLQ    561 - 630
LNPCRTGKIKSLQNNQDVSFENIQWSIDPGADLSQYKMDVTVIDTKDGSQSKLGGETVDMDCTLVSETVL    631 - 700
LKMKKQEQKGEKSSNEERKMNDSLEDMFDRTTHEEYESCLADSFSQAADEEEELSTATKKLHTHGDKQDK    701 - 770
VKQKAFVEPYFKGDERETSLQNFPHIEVVRKKEERRKLLGHTCKECEIYYADMPAEEREKKLASCSRHRF    771 - 840
RYIPPNTPENFWEVGFPSTQTCMERGYIKEDLDPCPRPKRRQPYNAIFSPKGKEQKT                 841 - 897
//

Text Mined References (120)

PMID Year Title