Property Summary

NCBI Gene PubMed Count 48
PubMed Score 380.74
PubTator Score 101.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
3-4 toe syndactyly 3
Absent/hypoplastic third toe 1
Acquired flat foot 72
Anteriorly placed anus 7
Anus, Imperforate 46
Bifid scrotum 16
Bifid uterus 4
Bilateral fifth finger clinodactyly 110
Broad thumbs 28
Clinodactyly of toes 3
Congenital Abnormality 11
Congenital deafness 185
Congenital small ears 48
Congenital urethral valve 1
Constipation 181
Cryptorchidism 296
Curvature of little finger 110
Deafness 198
Dull intelligence 645
Duodenal atresia 6
Dyschezia 135
Flatfoot 73
Fundus coloboma 18
Gastroesophageal reflux disease 110
Hearing Loss, Partial 185
Heartburn 78
Hypothyroidism 122
Intellectual disability 1016
Kidney Failure 111
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Low intelligence 645
Macrotia 87
Malformed pinnae 37
Mental Retardation 645
Mental deficiency 645
Metatarsal synostosis 4
Multiple, subcutaneous nodules 53
Overfolded helix 24
Overfolding of the superior helices 4
Partial duplication of thumb phalanx 6
Penile hypospadias 106
Polydactyly preaxial type 1 9
Poor school performance 645
Preauricular skin tag 19
Pseudoepiphyses of second metacarpal 1
RECTOPERINEAL FISTULA 1
Rectovaginal Fistula 5
Renal Insufficiency 90
Renal failure in adulthood 76
Satyr ear 1
Short metatarsal 21
Simple syndactyly of toes, first web space 23
Skin tag on the posterior cheek 19
Small head 374
Stahl ear 2
Stricture of anus 13
Subcutaneous nodule 53
Syndactyly, 3rd-4th finger 3
Tetralogy of Fallot 63
Toe curvature 3
Triphalangeal thumb 9
Umbilical hernia 93
Ventricular Septal Defects 119
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.3
Kidney cancer 2613 0.0 0.9
Melanoma 711 0.0 0.8
Skin cancer 469 0.0 0.8
Disease Target Count
Townes syndrome 1

Expression

  Differential Expression (16)

Disease log2 FC p
adult high grade glioma 1.700 2.8e-03
astrocytoma 1.500 8.7e-03
Astrocytoma, Pilocytic 1.800 4.6e-05
atypical teratoid / rhabdoid tumor -2.300 8.1e-04
Down syndrome 1.700 5.1e-04
ependymoma 1.300 6.9e-04
glioblastoma 2.300 3.1e-09
group 3 medulloblastoma -3.000 2.9e-04
interstitial cystitis -1.600 7.5e-03
malignant mesothelioma 1.800 1.7e-05
medulloblastoma, large-cell -2.600 3.1e-05
osteosarcoma 1.287 4.3e-02
pancreatic ductal adenocarcinoma liver m... -3.692 1.8e-04
pituitary cancer -2.500 2.6e-05
primitive neuroectodermal tumor 2.300 1.5e-04
psoriasis 1.100 2.0e-11

Gene RIF (23)

AA Sequence

MSRRKQAKPQHFQSDPEVASLPRRDGDTEKGQPSRPTKSKDAHVCGRCCAEFFELSDLLLHKKNCTKNQL      1 - 70
VLIVNENPASPPETFSPSPPPDNPDEQMNDTVNKTDQVDCSDLSEHNGLDREESMEVEAPVANKSGSGTS     71 - 140
SGSHSSTAPSSSSSSSSSSGGGGSSSTGTSAITTSLPQLGDLTTLGNFSVINSNVIIENLQSTKVAVAQF    141 - 210
SQEARCGGASGGKLAVPALMEQLLALQQQQIHQLQLIEQIRHQILLLASQNADLPTSSSPSQGTLRTSAN    211 - 280
PLSTLSSHLSQQLAAAAGLAQSLASQSASISGVKQLPPIQLPQSSSGNTIIPSNSGSSPNMNILAAAVTT    281 - 350
PSSEKVASSAGASHVSNPAVSSSSSPAFAISSLLSPASNPLLPQQASANSVFPSPLPNIGTTAEDLNSLS    351 - 420
ALAQQRKSKPPNVTAFEAKSTSDEAFFKHKCRFCAKVFGSDSALQIHLRSHTGERPFKCNICGNRFSTKG    421 - 490
NLKVHFQRHKEKYPHIQMNPYPVPEHLDNIPTSTGIPYGMSIPPEKPVTSWLDTKPVLPTLTTSVGLPLP    491 - 560
PTLPSLIPFIKTEEPAPIPISHSATSPPGSVKSDSGGPESATRNLGGLPEEAEGSTLPPSGGKSEESGMV    561 - 630
TNSVPTASSSVLSSPAADCGPAGSATTFTNPLLPLMSEQFKAKFPFGGLLDSAQASETSKLQQLVENIDK    631 - 700
KATDPNECIICHRVLSCQSALKMHYRTHTGERPFKCKICGRAFTTKGNLKTHYSVHRAMPPLRVQHSCPI    701 - 770
CQKKFTNAVVLQQHIRMHMGGQIPNTPVPDSYSESMESDTGSFDEKNFDDLDNFSDENMEDCPEGSIPDT    771 - 840
PKSADASQDSLSSSPLPLEMSSIAALENQMKMINAGLAEQLQASLKSVENGSIEGDVLTNDSSSVGGDME    841 - 910
SQSAGSPAISESTSSMQALSPSNSTQEFHKSPSIEEKPQRAVPSEFANGLSPTPVNGGALDLTSSHAEKI    911 - 980
IKEDSLGILFPFRDRGKFKNTACDICGKTFACQSALDIHYRSHTKERPFICTVCNRGFSTKGNLKQHMLT    981 - 1050
HQMRDLPSQLFEPSSNLGPNQNSAVIPANSLSSLIKTEVNGFVHVSPQDSKDTPTSHVPSGPLSSSATSP   1051 - 1120
VLLPALPRRTPKQHYCNTCGKTFSSSSALQIHERTHTGEKPFACTICGRAFTTKGNLKVHMGTHMWNSTP   1121 - 1190
ARRGRRLSVDGPMTFLGGNPVKFPEMFQKDLAARSGSGDPSSFWNQYAAALSNGLAMKANEISVIQNGGI   1191 - 1260
PPIPGSLGSGNSSPVSGLTGNLERLQNSEPNAPLAGLEKMASSENGTNFRFTRFVEDSKEIVTS         1261 - 1324
//

Text Mined References (53)

PMID Year Title