Property Summary

NCBI Gene PubMed Count 30
PubMed Score 95.24
PubTator Score 26.95

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Absent speech 43
Agenesis of corpus callosum 83
Autistic Disorder 364
Bilateral fifth finger clinodactyly 110
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Broad flat nasal bridge 236
Cerebral atrophy 178
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Constipation 181
Curvature of little finger 110
Decreased projection of midface 105
Deglutition Disorders 132
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Dyschezia 135
Electroencephalogram abnormal 101
Enophthalmos 75
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Flexion contracture of proximal interphalangeal joint 75
Gait abnormality 135
Gastroesophageal reflux disease 110
Global developmental delay 608
Heartburn 78
High-grade hypermetropia 24
Hypoplastic feet 66
Hypotrophic midface 105
Intellectual disability 1016
Juvenile arthritis 126
Late fontanel closure 28
Long philtrum 137
Low intelligence 645
Low-set, posteriorly rotated ears 110
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microstomia 78
Midface retrusion 105
Muscle hypotonia 571
Nasal bridge wide 236
Pediatric failure to thrive 365
Pointed chin 33
Poor school performance 645
Poor speech 37
Problems speaking 37
Seizures 596
Self-Injurious Behavior 12
Small head 374
Small midface 105
Stereotyped Behavior 37
Stereotypic Movement Disorder 42
Strabismus 270
Straight eyebrows 5
Sunken eyes 63
Wide skull shape 88
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count Z-score Confidence
Glaucoma 239 0.0 2.9
Schizophrenia 1160 0.0 1.2
Vitiligo 73 0.0 3.0
Disease Target Count
Chromosome 1p36 deletion syndrome 23

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytoma 1.500 3.3e-03
atypical teratoid / rhabdoid tumor 1.100 2.0e-02
Breast cancer -2.700 2.9e-02
group 4 medulloblastoma 1.100 4.2e-03
lung cancer 2.200 1.6e-05
medulloblastoma, large-cell 1.500 3.8e-04
osteosarcoma -1.057 2.1e-06
ovarian cancer -1.300 1.3e-04
psoriasis -1.200 2.4e-10
subependymal giant cell astrocytoma -1.498 2.4e-02
tuberculosis 1.200 4.7e-08
ulcerative colitis -1.100 1.8e-08

Gene RIF (5)

AA Sequence

MTADKDKDKDKEKDRDRDRDREREKRDKARESENSRPRRSCTLEGGAKNYAESDHSEDEDNDNNSATAEE      1 - 70
STKKNKKKPPKKKSRYERTDTGEITSYITEDDVVYRPGDCVYIESRRPNTPYFICSIQDFKLVHNSQACC     71 - 140
RSPTPALCDPPACSLPVASQPPQHLSEAGRGPVGSKRDHLLMNVKWYYRQSEVPDSVYQHLVQDRHNEND    141 - 210
SGRELVITDPVIKNRELFISDYVDTYHAAALRGKCNISHFSDIFAAREFKARVDSFFYILGYNPETRRLN    211 - 280
STQGEIRVGPSHQAKLPDLQPFPSPDGDTVTQHEELVWMPGVNDCDLLMYLRAARSMAAFAGMCDGGSTE    281 - 350
DGCVAASRDDTTLNALNTLHESGYDAGKALQRLVKKPVPKLIEKCWTEDEVKRFVKGLRQYGKNFFRIRK    351 - 420
ELLPNKETGELITFYYYWKKTPEAASSRAHRRHRRQAVFRRIKTRTASTPVNTPSRPPSSEFLDLSSASE    421 - 490
DDFDSEDSEQELKGYACRHCFTTTSKDWHHGGRENILLCTDCRIHFKKYGELPPIEKPVDPPPFMFKPVK    491 - 560
EEDDGLSGKHSMRTRRSRGSMSTLRSGRKKQPASPDGRTSPINEDIRSSGRNSPSAASTSSNDSKAETVK    561 - 630
KSAKKVKEEASSPLKSNKRQREKVASDTEEADRTSSKKTKTQEISRPNSPSEGEGESSDSRSVNDEGSSD    631 - 700
PKDIDQDNRSTSPSIPSPQDNESDSDSSAQQQMLQAQPPALQAPTGVTPAPSSAPPGTPQLPTPGPTPSA    701 - 770
TAVPPQGSPTASQAPNQPQAPTAPVPHTHIQQAPALHPQRPPSPHPPPHPSPHPPLQPLTGSAGQPSAPS    771 - 840
HAQPPLHGQGPPGPHSLQAGPLLQHPGPPQPFGLPPQASQGQAPLGTSPAAAYPHTSLQLPASQSALQSQ    841 - 910
QPPREQPLPPAPLAMPHIKPPPTTPIPQLPAPQAHKHPPHLSGPSPFSMNANLPPPPALKPLSSLSTHHP    911 - 980
PSAHPPPLQLMPQSQPLPSSPAQPPGLTQSQNLPPPPASHPPTGLHQVAPQPPFAQHPFVPGGPPPITPP    981 - 1050
TCPSTSTPPAGPGTSAQPPCSGAAASGGSIAGGSSCPLPTVQIKEEALDDAEEPESPPPPPRSPSPEPTV   1051 - 1120
VDTPSHASQSARFYKHLDRGYNSCARTDLYFMPLAGSKLAKKREEAIEKAKREAEQKAREEREREKEKEK   1121 - 1190
EREREREREREAERAAKASSSAHEGRLSDPQLSGPGHMRPSFEPPPTTIAAVPPYIGPDTPALRTLSEYA   1191 - 1260
RPHVMSPTNRNHPFYMPLNPTDPLLAYHMPGLYNVDPTIRERELREREIREREIRERELRERMKPGFEVK   1261 - 1330
PPELDPLHPAANPMEHFARHSALTIPPTAGPHPFASFHPGLNPLERERLALAGPQLRPEMSYPDRLAAER   1331 - 1400
IHAERMASLTSDPLARLQMFNVTPHHHQHSHIHSHLHLHQQDPLHQGSAGPVHPLVDPLTAGPHLARFPY   1401 - 1470
PPGTLPNPLLGQPPHEHEMLRHPVFGTPYPRDLPGAIPPPMSAAHQLQAMHAQSAELQRLAMEQQWLHGH   1471 - 1540
PHMHGGHLPSQEDYYSRLKKEGDKQL                                               1541 - 1566
//

Text Mined References (39)

PMID Year Title