Property Summary

NCBI Gene PubMed Count 47
PubMed Score 281.58
PubTator Score 232.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Hydronephrosis 89
Hypertrichosis 46
Abnormality of the nasopharynx 9
Absent speech 43
Anteverted nostril 191
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Bicornuate uterus 11
Blepharoptosis 231
Brachycephaly 88
Broad cranium shape 88
Broad ribs 12
Bulging forehead 66
Byzanthine arch palate 194
Cerebral atrophy 178
Choanal stenosis 11
Coarse facial features 108
Concave bridge of nose 195
Congenital clubfoot 109
Congenital hypoplasia of penis 176
Decreased projection of midface 105
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilatation of ureter 15
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Facial hemangioma 2
Failure to gain weight 365
Hepatoblastoma 19
High forehead 102
HyperCalcification of skull base 5
HyperMineralization of skull base 5
Hypoplasia of corpus callosum 90
Hypoplasia of first ribs 3
Hypoplasia of nipple 16
Hypoplasia of scrotum 24
Hypoplastic labia minora 10
Hypoplastic sternum 5
Hypoplastic/aplastic pubic bones 2
Hypotrophic malar bone 129
Hypotrophic midface 105
Hypsarrhythmia 25
Inadequate arch length for tooth size 45
Increased density of long bones 1
Juvenile Myelomonocytic Leukemia 21
Leukemia, Myelocytic, Acute 120
Long clavicle 7
Long face 71
Low intelligence 645
Low set ears 181
MYELODYSPLASTIC SYNDROME 53
Macroglossia 65
Malar flattening 129
Mammary Neoplasms 425
Mental Retardation 645
Mental deficiency 645
Metopic suture patent to nasal root 1
Midface retrusion 105
Motor delay 147
Myeloid Leukemia 19
Myeloid Leukemia, Chronic 23
Narrow palate 20
No development of motor milestones 147
Opisthotonus 14
Orbital separation excessive 244
Overcurvature of nail 6
Pediatric failure to thrive 365
Penile hypospadias 106
Pointed chin 33
Poor school performance 645
Postnatal growth retardation 57
Prominent forehead 66
Sclerosis of skull base 5
Seizures 596
Shallow orbits 13
Short distal phalanges 50
Short first metacarpals 11
Short neck 140
Short nose 132
Short sternum 5
Single transverse palmar crease 29
Sloping forehead 46
Small labia majora 16
Small midface 105
Small nose 132
Stenosis of ureter 2
Structure of wormian bone 24
Supratentorial atrophy 94
Synophrys 40
Tall forehead 102
Teratoma 8
Thickened cortex of long bones 4
Thickened facial skin with coarse facial features 108
Thin upper lip vermilion 67
Tibial bowing 19
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Ulnar polydactyly of fingers 47
Uroureter 15
Wide distal metaphysis of femur 1
Wide skull shape 88
Widely patent fontanels and sutures 12
nonverbal 43

Expression

  Differential Expression (16)

Disease log2 FC p
lung cancer -2.100 2.2e-04
adrenocortical carcinoma -1.250 5.0e-04
Breast cancer -1.200 5.0e-03
breast carcinoma -1.500 6.7e-20
colon cancer -2.100 3.7e-02
group 3 medulloblastoma 1.600 3.2e-02
intraductal papillary-mucinous adenoma (... -1.900 1.2e-05
intraductal papillary-mucinous carcinoma... -1.200 1.2e-02
intraductal papillary-mucinous neoplasm ... -1.200 4.5e-03
invasive ductal carcinoma -1.200 1.7e-03
lung adenocarcinoma -1.800 4.5e-09
malignant mesothelioma 1.400 1.7e-06
ovarian cancer -1.300 1.0e-02
posterior fossa group B ependymoma 1.100 4.6e-04
psoriasis -1.500 2.2e-03
tuberculosis 1.500 1.1e-06

Gene RIF (38)

AA Sequence

MESRETLSSSRQRGGESDFLPVSSAKPPAAPGCAGEPLLSTPGPGKGIPVGGERMEPEEEDELGSGRDVD      1 - 70
SNSNADSEKWVAGDGLEEQEFSIKEANFTEGSLKLKIQTTKRAKKPPKNLENYICPPEIKITIKQSGDQK     71 - 140
VSRAGKNSKATKEEERSHSKKKLLTASDLAASDLKGFQPQAYERPQKHSTLHYDTGLPQDFTGDTLKPKH    141 - 210
QQKSSSQNHMDWSTNSDSGPVTQNCFISPESGRETASTSKIPALEPVASFAKAQGKKGSAGNTWSQLSNN    211 - 280
NKDLLLGGVAPSPSSHSSPAPPSSSAECNGLQPLVDQDGGGTKEPPEPPTVGSKKKSSKKDVISQTIPNP    281 - 350
DLDWVKNAQKAFDNTEGKREGYSADSAQEASPARQNVSSASNPENDSSHVRITIPIKAPSLDPTNHKRKK    351 - 420
RQSIKAVVEKIMPEKALASGITMSSEVVNRILSNSEGNKKDPRVPKLSKMIENESPSVGLETGGNAEKVI    421 - 490
PGGVSKPRKPPMVMTPPTCTDHSPSRKLPEIQHPKFAAKRRWTCSKPKPSTMLREAVMATSDKLMLEPPS    491 - 560
AYPITPSSPLYTNTDSLTVITPVKKKRGRPKKQPLLTVETIHEGTSTSPVSPISREFPGTKKRKRRRNLA    561 - 630
KLAQLVPGEDKPMSEMKFHKKVGKLGVLDKKTIKTINKMKTLKRKNILNQILSCSSSVALKAKAPPETSP    631 - 700
GAAAIESKLGKQINVSKRGTIYIGKKRGRKPRAELPPPSEEPKTAIKHPRPVSSQPDVPAVPSNFQSLVA    701 - 770
SSPAAMHPLSTQLGGSNGNLSPASTETNFSELKTMPNLQPISALPTKTQKGIHSGTWKLSPPRLMANSPS    771 - 840
HLCEIGSLKEITLSPVSESHSEETIPSDSGIGTDNNSTSDQAEKSSESRRRYSFDFCSLDNPEAIPSDTS    841 - 910
TKNRHGHRQKHLIVDNFLAHESLKKPKHKRKRKSLQNRDDLQFLADLEELITKFQVFRISHRSYTFYHEN    911 - 980
PYPSIFRINFDHYYPVPYIQYDPLLYLRRTSDLKSKKKRGRPAKTNDTMTKVPFLQGFSYPIPSGSYYAP    981 - 1050
YGMPYTSMPMMNLGYYGQYPAPLYLSHTLGAASPFMRPTVPPPQFHTNSHVKMSGAAKHKAKHGVHLQGP   1051 - 1120
VSMGLGDMQPSLNPPKVGSASLSSGRLHKRKHKHKHKHKEDRILGTHDNLSGLFAGKATGFSSHILSERL   1121 - 1190
SSADKELPLVSEKNKHKEKQKHQHSEAGHKASKNNFEVDTLSTLSLSDAQHWTQAKEKGDLSSEPVDSCT   1191 - 1260
KRYSGSGGDGGSTRSENLDVFSEMNPSNDKWDSDVSGSKRRSYEGFGTYREKDIQAFKMNRKERSSYDSS   1261 - 1330
MSPGMPSPHLKVDQTAVHSKNEGSVPTMMTRKKPAAVDSVTIPPAPVLSLLAASAATSDAVGSSLKKRFK   1331 - 1400
RREIEAIQCEVRKMCNYTKILSTKKNLDHVNKILKAKRLQRQSKTGNNFVKKRRGRPRKQPTQFDEDSRD   1401 - 1470
QMPVLEKCIDLPSKRGQKPSLSPLVLEPAASQDTIMATIEAVIHMAREAPPLPPPPPPPLPPPPPPPLPP   1471 - 1540
PPPLPKTPRGGKRKHKPQAPAQPPQQSPPQQPLPQEEEVKAKRQRKSRGSESEVLP                 1541 - 1596
//

Text Mined References (52)

PMID Year Title