Property Summary

NCBI Gene PubMed Count 42
PubMed Score 45.85
PubTator Score 51.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of pulmonary valve 23
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 52
Arachnodactyly 49
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Blepharoptosis 231
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
CONOTRUNCAL ANOMALY FACE SYNDROME 9
Chronic otitis media 52
Cleft Palate 271
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital hypoplasia of kidney 32
Congenital hypoplasia of thymus 15
Constipation 181
Convex nasal bridge 57
Corneal Neovascularization 13
Dental caries 164
DiGeorge syndrome 47
Dyschezia 135
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Global developmental delay 608
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 41
Hypoplastic lobules 11
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Long face 71
Long philtrum 137
Low set ears 181
Malar flattening 129
Mental and motor retardation 608
Mild Mental Retardation 70
Muscle hypotonia 571
Myalgia 54
Nasal bridge wide 236
Nasal voice 39
Occipital myelomeningocele 8
Overfolded helix 24
Persistant truncus arteriosus 17
Platybasia 13
Posterior embryotoxon 28
Potato nose 48
Prominent nasal bridge 57
Rotting teeth 73
Seborrheic dermatitis 31
Short neck 140
Short stature 531
Shprintzen syndrome 9
Small thymus 13
Specific learning disability 47
Telecanthus 62
Tetany 18
Tetralogy of Fallot 63
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
ear infection chronic 52
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count
22q11.2 deletion syndrome 8

Expression

  Differential Expression (13)

Disease log2 FC p
adult high grade glioma 1.200 2.5e-03
Amyotrophic lateral sclerosis 1.098 9.7e-06
astrocytoma 1.300 5.6e-16
atypical teratoid / rhabdoid tumor 2.000 3.1e-06
ependymoma 1.900 6.0e-13
glioblastoma 1.100 6.4e-03
group 3 medulloblastoma 3.800 1.4e-07
medulloblastoma, large-cell 2.600 1.1e-04
osteosarcoma -1.830 3.1e-06
ovarian cancer -1.100 2.2e-06
Pick disease 1.100 1.6e-02
psoriasis -1.900 4.0e-05
subependymal giant cell astrocytoma 2.325 5.8e-03

Gene RIF (23)

AA Sequence

MTSSSPAGLEGSDLSSINTMMSAVMSVGKVTENGGSPQGIKSPSKPPGPNRIGRRNQETKEEKSSYNCPL      1 - 70
CEKICTTQHQLTMHIRQHNTDTGGADHSCSICGKSLSSASSLDRHMLVHSGERPYKCTVCGQSFTTNGNM     71 - 140
HRHMKIHEKDPNSATATAPPSPLKRRRLSSKRKLSHDAESEREDPAPAKKMVEDGQSGDLEKKADEVFHC    141 - 210
PVCFKEFVCKYGLETHMETHSDNPLRCDICCVTFRTHRGLLRHNALVHKQLPRDAMGRPFIQNNPSIPAG    211 - 280
FHDLGFTDFSCRKFPRISQAWCETNLRRCISEQHRFVCDTCDKAFPMLCSLALHKQTHVAADQGQEKPQA    281 - 350
TPLPGDALDQKGFLALLGLQHTKDVRPAPAEEPLPDDNQAIQLQTLKCQLPQDPGCTNLLSLSPFEAASL    351 - 420
GGSLTVLPATKDSIKHLSLQPFQKGFIIQPDSSIVVKPISGESAIELADIQQILKMAASAPPQISLPPFS    421 - 490
KAPAAPLQAIFKHMPPLKPKPLVTPRTVVATSTPPPLINAQQASPGCISPSLPPPPLKLLKGSVEAASNA    491 - 560
HLLQSKSGTQPHAATRLSLQQPRAELPGQPEMKTQLEQDSIIEALLPLSMEAKIKQEITEGELKAFMTAP    561 - 630
GGKKTPAMRKVLYPCRFCNQVFAFSGVLRAHVRSHLGISPYQCNICDYIAADKAALIRHLRTHSGERPYI    631 - 700
CKICHYPFTVKANCERHLRKKHLKATRKDIEKNIEYVSSSAAELVDAFCAPDTVCRLCGEDLKHYRALRI    701 - 770
HMRTHCGRGLGGGHKGRKPFECKECSAAFAAKRNCIHHILKQHLHVPEQDIESYVLAADGLGPAEAPAAE    771 - 840
ASGRGEDSGCAALGDCKPLTAFLEPQNGFLHRGPTQPPPPHVSIKLEPASSFAVDFNEPLDFSQKGLALV    841 - 910
QVKQENISFLSPSSLVPYDCSMEPIDLSIPKNFRKGDKDLATPSEAKKPEEEAGSSEQPSPCPAPGPSLP    911 - 980
VTLGPSGILESPMAPAPAATPEPPAQPLQGPVQLAVPIYSSALVSSPPLVGSSALLSGTALLRPLRPKPP    981 - 1050
LLLPKPPVTEELPPLASIAQIISSVSSAPTLLKTKVADPGPASTGSNTTASDSLGGSVPKAATTATPAAT   1051 - 1120
TSPKESSEPPAPASSPEAASPTEQGPAGTSKKRGRKRGMRSRPRANSGGVDLDSSGEFASIEKMLATTDT   1121 - 1190
NKFSPFLQTAEDNTQDEVAGAPADHHGPSDEEQGSPPEDKLLRAKRNSYTNCLQKITCPHCPRVFPWASS   1191 - 1260
LQRHMLTHTDSQSDAETAAAAGEVLDLTSRDREQPSEGATELRQVAGDAPVEQATAETASPVHREEHGRG   1261 - 1330
ESHEPEEEHGTEESTGDADGAEEDASSNQSLDLDFATKLMDFKLAEGDGEAGAGGAASQEQKLACDTCGK   1331 - 1400
SFKFLGTLSRHRKAHGRQEPKDEKGDGASTAEEGPQPAPEQEEKPPETPAEVVESAPGAGEAPAEKLAEE   1401 - 1470
TEGPSDGESAAEKRSSEKSDDDKKPKTDSPKSVASKADKRKKVCSVCNKRFWSLQDLTRHMRSHTGERPY   1471 - 1540
KCQTCERTFTLKHSLVRHQRIHQKARHAKHHGKDSDKEERGEEDSENESTHSGNNAVSENEAELAPNASN   1541 - 1610
HMAVTRSRKEGLASATKDCSHREEKVTAGWPSEPGQGDLNPESPAALGQDLLEPRSKRPAHPILATADGA   1611 - 1680
SQLVGME                                                                  1681 - 1687
//

Text Mined References (57)

PMID Year Title