Property Summary

NCBI Gene PubMed Count 37
PubMed Score 49.72
PubTator Score 38.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Marshall-Smith syndrome 5 6.667 3.3
Disease Target Count
Acquired scoliosis 281
Advanced bone age 35
Agenesis of corpus callosum 83
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Atrial Septal Defects 85
Bipolar Disorder 666
Blue sclera 32
Bulging forehead 66
Bullet-shaped middle phalanges of the hand 1
Bushy eyebrows 49
Cerebral atrophy 178
Choanal Atresia 42
Choanal stenosis 11
Concave bridge of nose 195
Congenital deafness 185
Congenital omphalocele 20
Curvature of spine 282
Deafness 198
Death in childhood 14
Decreased projection of midface 105
Decreased size of mandibular ramus 2
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Distal widening of metacarpals 1
Dull intelligence 645
Failure to gain weight 365
Fetal overgrowth 16
Frontal bossing 157
Generalized overgrowth 16
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Glossoptosis 10
Hearing Loss, Partial 185
Hypoplastic sternum 5
Hypotrophic malar bone 129
Hypotrophic midface 105
Idiopathic pulmonary arterial hypertension 40
Intellectual disability 1016
Irregular dentition 3
Isolated cases 72
Large sternal ossification centers 1
Laryngomalacia 14
Long face 71
Low intelligence 645
Low set ears 181
Malar flattening 129
Mental Retardation 645
Mental deficiency 645
Midface retrusion 105
Motor delay 147
Muscle hypotonia 571
Narrow face 54
No development of motor milestones 147
ODONTOID HYPOPLASIA 16
Overfolded helix 24
Overgrowth 16
Pachygyria 41
Patent ductus arteriosus 90
Pectus excavatum 100
Pediatric failure to thrive 365
Poor school performance 645
Posterior displacement of the tongue 10
Prominent forehead 66
Prominent premaxilla 3
Pulmonary hypertension 86
Recurrent aspiration pneumonia 4
Retrognathia 54
SOTOS SYNDROME 2 1
Shallow orbits 13
Short distal phalanges 50
Short mandibular rami 2
Short nose 132
Short philtrum 53
Short sternum 5
Sleep Apnea, Obstructive 10
Slender, gracile long tubular bones 21
Small midface 105
Small nose 132
Supratentorial atrophy 94
Synophrys 40
Tall stature 34
Thin face 54
Umbilical hernia 93
Underweight 17
Weight decreased 103
Weight less than 3rd percentile 17
hearing impairment 199
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Chromosome 19p13.13 deletion syndrome 5 0.0 5.0
Disease Target Count
Malan overgrowth syndrome 1

Expression

  Differential Expression (16)

Disease log2 FC p
acute myeloid leukemia -1.100 3.0e-02
astrocytic glioma 1.100 3.0e-02
Breast cancer -1.100 6.8e-06
breast carcinoma -1.100 1.0e-03
ductal carcinoma in situ -1.300 1.1e-02
ependymoma 1.300 6.0e-03
group 4 medulloblastoma 1.300 8.0e-03
invasive ductal carcinoma -2.800 7.0e-04
lung adenocarcinoma -1.100 4.7e-10
lung carcinoma -1.700 2.4e-18
malignant mesothelioma -1.400 5.3e-06
oligodendroglioma 1.600 3.7e-03
osteosarcoma -1.207 1.1e-02
pituitary cancer -1.400 2.4e-03
primary pancreatic ductal adenocarcinoma 1.001 3.0e-02
psoriasis -2.400 5.5e-03

Gene RIF (18)

AA Sequence

MYSPYCLTQDEFHPFIEALLPHVRAFSYTWFNLQARKRKYFKKHEKRMSKDEERAVKDELLGEKPEIKQK      1 - 70
WASRLLAKLRKDIRPEFREDFVLTITGKKPPCCVLSNPDQKGKIRRIDCLRQADKVWRLDLVMVILFKGI     71 - 140
PLESTDGERLYKSPQCSNPGLCVQPHHIGVTIKELDLYLAYFVHTPESGQSDSSNQQGDADIKPLPNGHL    141 - 210
SFQDCFVTSGVWNVTELVRVSQTPVATASGPNFSLADLESPSYYNINQVTLGRRSITSPPSTSTTKRPKS    211 - 280
IDDSEMESPVDDVFYPGTGRSPAAGSSQSSGWPNDVDAGPASLKKSGKLDFCSALSSQGSSPRMAFTHHP    281 - 350
LPVLAGVRPGSPRATASALHFPSTSIIQQSSPYFTHPTIRYHHHHGQDSLKEFVQFVCSDGSGQATGQPN    351 - 420
GSGQGKVPGSFLLPPPPPVARPVPLPMPDSKSTSTAPDGAALTPPSPSFATTGASSANRFVSIGPRDGNF    421 - 490
LNIPQQSQSWFL                                                              491 - 502
//

Text Mined References (44)

PMID Year Title