Property Summary

NCBI Gene PubMed Count 76
PubMed Score 106.99
PubTator Score 102.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Intellectual disability 1016
Legg-Calve-Perthes disease 14
Abnormally low-pitched voice 6
Absent mandible 6
Accelerated bone age after puberty 2
Acquired flat foot 72
Acquired scoliosis 281
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Animal Mammary Neoplasms 136
Aplasia/Hypoplasia of the mandible 3
Arthralgia 90
Bilateral fifth finger clinodactyly 110
Bone pain 42
Bulbous nasal tip 48
Bulbous nose 48
Bushy eyebrows 49
Byzanthine arch palate 194
Cone-shaped epiphyses 24
Cone-shaped epiphyses of middle phalanges 2
Cone-shaped epiphyses of phalanges 15
Cone-shaped epiphyses of the proximal phalanges of the hand 1
Congenital neurologic anomalies 20
Congenital pectus carinatum 52
Coxa Magna 1
Curvature of little finger 110
Curvature of spine 282
Decreased projection of lower jaw 3
Decreased size of teeth 62
Decreased width of tooth 59
Deep philtrum 21
Deficiency of lower jaw 3
Degenerative polyarthritis 115
Delayed bone age 136
Dental caries 164
Depressed philtrum 21
Dull intelligence 645
Fine hair 42
Flat proximal femoral epiphyses 8
Flatfoot 73
Flexion contracture of proximal interphalangeal joint 75
Fragile nails 16
Frontal bossing 157
Generalized osteopenia 99
Horizontal groove on chin 1
Hypoplastic feet 66
Hypoplastic finger 17
Hypoplastic mandible condyle 275
Inadequate arch length for tooth size 45
Infantile muscular hypotonia 12
Ivory epiphyses of the distal phalanges of the hand 1
Joint hyperflexibility 78
Koilonychia 7
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Late tooth eruption 61
Laterally sparse eyebrows 12
Leukonychia 6
Long philtrum 137
Long upper lip 1
Lordosis 54
Low intelligence 645
Low-set, posteriorly rotated ears 110
Macrotia 87
Malocclusion 57
Mandibular Retrusion 3
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Multiple exostoses of long tubular bones 2
Muscle hypotonia 571
Narrow palate 20
Osteopenia 99
Pear-shaped nose 2
Poor school performance 645
Potato nose 48
Prominent ear 56
Protruding ears 56
Recurrent respiratory infections 141
Redundant skin 28
Rotting teeth 73
Scapular weakness 23
Short distal phalanges 50
Short finger 17
Short hands 50
Short metacarpal 43
Short metatarsal 21
Short phalanx of finger 32
Short stature 531
Shortening of all phalanges of fingers 2
Slow-growing hair 19
Smooth philtrum 43
Sparse eyebrow 42
Sparse eyelashes 31
Sparse hair 59
Sparse scalp hair 42
Swelling of proximal interphalangeal joints 1
Thin hypoplastic alae nasi 51
Thin nails 5
Thin upper lip vermilion 67
Thin, sparse hair 59
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Tooth, Supernumerary 7
Triangular face 58
Trichorhinophalangeal dysplasia type I 1
Winged scapula 23
Disease Target Count Z-score Confidence
Kidney cancer 2613 0.0 1.0
Disease Target Count Z-score Confidence
Rheumatoid arthritis 1191 0.0 0.00856142674090888

Expression

  Differential Expression (23)

Disease log2 FC p
Rheumatoid arthritis 1.600 8.6e-03
astrocytic glioma 1.500 2.8e-03
atypical teratoid / rhabdoid tumor 1.100 1.6e-02
Breast cancer 2.300 4.9e-02
breast carcinoma 1.800 7.8e-04
colon cancer -1.700 1.1e-02
ductal carcinoma in situ 1.500 4.3e-02
ependymoma 2.000 7.5e-03
glioblastoma 2.100 2.8e-06
group 3 medulloblastoma -1.400 3.0e-02
intraductal papillary-mucinous carcinoma... -1.500 4.8e-02
invasive ductal carcinoma 1.500 3.1e-02
lung cancer 1.500 3.9e-03
lung carcinoma -2.000 1.6e-29
malignant mesothelioma -2.400 1.0e-07
medulloblastoma, large-cell -2.200 5.9e-03
oligodendroglioma 1.300 2.3e-02
osteosarcoma 3.120 5.2e-06
ovarian cancer 1.200 1.2e-03
pediatric high grade glioma 1.400 5.1e-04
Pick disease 1.200 4.6e-04
pituitary cancer -1.200 1.3e-05
tuberculosis -1.100 1.0e-03

Gene RIF (55)

AA Sequence

MVRKKNPPLRNVASEGEGQILEPIGTESKVSGKNKEFSADQMSENTDQSDAAELNHKEEHSLHVQDPSSS      1 - 70
SKKDLKSAVLSEKAGFNYESPSKGGNFPSFPHDEVTDRNMLAFSSPAAGGVCEPLKSPQRAEADDPQDMA     71 - 140
CTPSGDSLETKEDQKMSPKATEETGQAQSGQANCQGLSPVSVASKNPQVPSDGGVRLNKSKTDLLVNDNP    141 - 210
DPAPLSPELQDFKCNICGYGYYGNDPTDLIKHFRKYHLGLHNRTRQDAELDSKILALHNMVQFSHSKDFQ    211 - 280
KVNRSVFSGVLQDINSSRPVLLNGTYDVQVTSGGTFIGIGRKTPDCQGNTKYFRCKFCNFTYMGNSSTEL    281 - 350
EQHFLQTHPNKIKASLPSSEVAKPSEKNSNKSIPALQSSDSGDLGKWQDKITVKAGDDTPVGYSVPIKPL    351 - 420
DSSRQNGTEATSYYWCKFCSFSCESSSSLKLLEHYGKQHGAVQSGGLNPELNDKLSRGSVINQNDLAKSS    421 - 490
EGETMTKTDKSSSGAKKKDFSSKGAEDNMVTSYNCQFCDFRYSKSHGPDVIVVGPLLRHYQQLHNIHKCT    491 - 560
IKHCPFCPRGLCSPEKHLGEITYPFACRKSNCSHCALLLLHLSPGAAGSSRVKHQCHQCSFTTPDVDVLL    561 - 630
FHYESVHESQASDVKQEANHLQGSDGQQSVKESKEHSCTKCDFITQVEEEISRHYRRAHSCYKCRQCSFT    631 - 700
AADTQSLLEHFNTVHCQEQDITTANGEEDGHAISTIKEEPKIDFRVYNLLTPDSKMGEPVSESVVKREKL    701 - 770
EEKDGLKEKVWTESSSDDLRNVTWRGADILRGSPSYTQASLGLLTPVSGTQEQTKTLRDSPNVEAAHLAR    771 - 840
PIYGLAVETKGFLQGAPAGGEKSGALPQQYPASGENKSKDESQSLLRRRRGSGVFCANCLTTKTSLWRKN    841 - 910
ANGGYVCNACGLYQKLHSTPRPLNIIKQNNGEQIIRRRTRKRLNPEALQAEQLNKQQRGSNEEQVNGSPL    911 - 980
ERRSEDHLTESHQREIPLPSLSKYEAQGSLTKSHSAQQPVLVSQTLDIHKRMQPLHIQIKSPQESTGDPG    981 - 1050
NSSSVSEGKGSSERGSPIEKYMRPAKHPNYSPPGSPIEKYQYPLFGLPFVHNDFQSEADWLRFWSKYKLS   1051 - 1120
VPGNPHYLSHVPGLPNPCQNYVPYPTFNLPPHFSAVGSDNDIPLDLAIKHSRPGPTANGASKEKTKAPPN   1121 - 1190
VKNEGPLNVVKTEKVDRSTQDELSTKCVHCGIVFLDEVMYALHMSCHGDSGPFQCSICQHLCTDKYDFTT   1191 - 1260
HIQRGLHRNNAQVEKNGKPKE                                                    1261 - 1281
//

Text Mined References (87)

PMID Year Title