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 79
Autistic Disorder 358
Bilateral fifth finger clinodactyly 109
Brachycephaly 86
Brachydactyly 154
Broad cranium shape 86
Broad flat nasal bridge 232
Cerebral atrophy 175
Cognitive delay 596
Concave bridge of nose 191
Congenital Epicanthus 175
Constipation 174
Curvature of little finger 109
Decreased projection of midface 104
Deglutition Disorders 128
Depressed nasal bridge 191
Depressed nasal ridge 48
Depressed nasal root/bridge 191
Dilated ventricles (finding) 119
Dull intelligence 634
Dyschezia 129
Electroencephalogram abnormal 100
Enophthalmos 74
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Flexion contracture of proximal interphalangeal joint 74
Gait abnormality 129
Gastroesophageal reflux disease 108
Global developmental delay 596
Heartburn 76
High-grade hypermetropia 24
Hypoplastic feet 66
Hypotrophic midface 104
Intellectual disability 998
Juvenile arthritis 123
Late fontanel closure 28
Long philtrum 137
Low intelligence 634
Low-set, posteriorly rotated ears 109
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Microstomia 76
Midface retrusion 104
Muscle hypotonia 562
Nasal bridge wide 232
Pediatric failure to thrive 359
Pointed chin 33
Poor school performance 634
Poor speech 37
Problems speaking 37
Seizures 584
Self-Injurious Behavior 12
Small head 366
Small midface 104
Stereotyped Behavior 36
Stereotypic Movement Disorder 41
Strabismus 265
Straight eyebrows 5
Sunken eyes 62
Wide skull shape 86
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.1
Disease Target Count Z-score Confidence
Glaucoma 232 0.0 2.9
Schizophrenia 1136 0.0 1.2
Vitiligo 71 0.0 3.0
Disease Target Count
Chromosome 1p36 deletion syndrome 21

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