Property Summary

NCBI Gene PubMed Count 62
PubMed Score 73.56
PubTator Score 406.69

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Cleft Palate 271
Abnormal development of end part of bone 14
Abnormal diaphysis morphology 5
Abnormality of pelvic girdle bone morphology 37
Abnormality of the metaphyses 48
Abnormally-shaped vertebrae 31
Anteverted nostril 191
Aplasia/Hypoplasia of the capital femoral epiphysis 2
Arthralgia 90
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Brachydactyly 156
Broad ribs 12
Bulbous nasal tip 48
Bulbous nose 48
Cognitive delay 608
Concave bridge of nose 195
Contracture 96
Contracture of joint 93
Coronal cleft vertebrae 8
Decreased projection of midface 105
Degenerative polyarthritis 115
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Dermatologic disorders 93
Disorder of eye 27
Downward slant of palpebral fissure 158
Dumbbell-shaped long bones 4
Enlarged epiphyses 4
Enlarged joints 3
Epiphyseal dysplasia 14
Exophthalmos 112
Eye Abnormalities 35
Feeding difficulties in infancy 175
Flexion contracture 93
Flexion contractures of joints 93
Global developmental delay 608
Glossoptosis 10
Hearing Loss, Mixed Conductive-Sensorineural 12
Hearing abnormality 12
Hyperkyphosis 111
Hypoplastic fingernails 11
Hypoplastic ilia 12
Hypoplastic ischia 11
Hypoplastic mandible condyle 275
Hypoplastic pubic bone 7
Hypoplastic scapulae 14
Hypotrophic malar bone 129
Hypotrophic midface 105
Infectious disease of lung 29
Joint stiffness 84
Kyphosis deformity of spine 114
Large tarsal bones 2
Long philtrum 137
Lordosis 54
Low set ears 181
Lumbar lordosis 35
Malar flattening 129
Mandibular hypoplasia 275
Mental and motor retardation 608
Metaphyseal widening 22
Micrognathism 275
Micromelia 58
Microstomia 78
Midface retrusion 105
Multiple pulmonary infections 29
Narrow thorax 53
Orbital separation excessive 244
Pierre Robin Syndrome 11
Platyspondyly 56
Posterior displacement of the tongue 10
Potato nose 48
Premature osteoarthritis 6
Prominent eyes 96
Prominent globes 96
Prominent interphalangeal joints 3
Protruding eyes 96
Protuberant abdomen 16
Recurrent pneumonia 29
Recurrent pulmonary infections 29
Respiratory Insufficiency 132
Respiratory function loss 121
Rhizomelia 25
Round face 45
Round, full face 45
Sensorineural Hearing Loss (disorder) 284
Short hands 50
Short metacarpal 43
Short neck 140
Short nose 132
Short phalanx of finger 32
Short ribs 30
Short stature 531
Short tubular bones 22
Skin Abnormalities 37
Small midface 105
Small nose 132
Small wings of the pelvic girdle 12
Splayed metaphyses 19
Thoracic hypoplasia 14
Uranostaphyloschisis 167
Wide anterior fontanel 44
Disease Target Count P-value
lung cancer 4740 3.7e-04
osteosarcoma 7950 1.1e-03
intraductal papillary-mucinous adenoma (IPMA) 2955 5.9e-03
pituitary cancer 1972 8.4e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (4)

Disease log2 FC p
intraductal papillary-mucinous adenoma (... 1.200 5.9e-03
lung cancer 1.300 3.7e-04
osteosarcoma 2.872 1.1e-03
pituitary cancer -1.200 8.4e-03

Gene RIF (36)

AA Sequence

MERCSRCHRLLLLLPLVLGLSAAPGWAGAPPVDVLRALRFPSLPDGVRRAKGICPADVAYRVARPAQLSA      1 - 70
PTRQLFPGGFPKDFSLLTVVRTRPGLQAPLLTLYSAQGVRQLGLELGRPVRFLYEDQTGRPQPPSQPVFR     71 - 140
GLSLADGKWHRVAVAVKGQSVTLIVDCKKRVTRPLPRSARPVLDTHGVIIFGARILDEEVFEGDVQELAI    141 - 210
VPGVQAAYESCEQKELECEGGQRERPQNQQPHRAQRSPQQQPSRLHRPQNQEPQSQPTESLYYDYEPPYY    211 - 280
DVMTTGTTPDYQDPTPGEEEEILESSLLPPLEEEQTDLQVPPTADRFQAEEYGEGGTDPPEGPYDYTYGY    281 - 350
GDDYREETELGPALSAETAHSGAAAHGPRGLKGEKGEPAVLEPGMLVEGPPGPEGPAGLIGPPGIQGNPG    351 - 420
PVGDPGERGPPGRAGLPGSDGAPGPPGTSLMLPFRFGSGGGDKGPVVAAQEAQAQAILQQARLALRGPPG    421 - 490
PMGYTGRPGPLGQPGSPGLKGESGDLGPQGPRGPQGLTGPPGKAGRRGRAGADGARGMPGDPGVKGDRGF    491 - 560
DGLPGLPGEKGHRGDTGAQGLPGPPGEDGERGDDGEIGPRGLPGESGPRGLLGPKGPPGIPGPPGVRGMD    561 - 630
GPQGPKGSLGPQGEPGPPGQQGTPGTQGLPGPQGAIGPHGEKGPQGKPGLPGMPGSDGPPGHPGKEGPPG    631 - 700
TKGNQGPSGPQGPLGYPGPRGVKGVDGIRGLKGHKGEKGEDGFPGFKGDIGVKGDRGEVGVPGSRGEDGP    701 - 770
EGPKGRTGPTGDPGPPGLMGEKGKLGVPGLPGYPGRQGPKGSLGFPGFPGASGEKGARGLSGKSGPRGER    771 - 840
GPTGPRGQRGPRGATGKSGAKGTSGGDGPHGPPGERGLPGPQGPNGFPGPKGPLGPPGKDGLPGHPGQRG    841 - 910
EVGFQGKTGPPGPPGVVGPQGAAGETGPMGERGHPGPPGPPGEQGLPGTAGKEGTKGDPGPPGAPGKDGP    911 - 980
AGLRGFPGERGLPGTAGGPGLKGNEGPSGPPGPAGSPGERGAAGSGGPIGPPGRPGPQGPPGAAGEKGVP    981 - 1050
GEKGPIGPTGRDGVQGPVGLPGPAGPPGVAGEDGDKGEVGDPGQKGTKGNKGEHGPPGPPGPIGPVGQPG   1051 - 1120
AAGADGEPGARGPQGHFGAKGDEGTRGFNGPPGPIGLQGLPGPSGEKGETGDVGPMGPPGPPGPRGPAGP   1121 - 1190
NGADGPQGPPGGVGNLGPPGEKGEPGESGSPGIQGEPGVKGPRGERGEKGESGQPGEPGPPGPKGPTGDD   1191 - 1260
GPKGNPGPVGFPGDPGPPGEGGPRGQDGAKGDRGEDGEPGQPGSPGPTGENGPPGPLGKRGPAGSPGSEG   1261 - 1330
RQGGKGAKGDPGAIGAPGKTGPVGPAGPAGKPGPDGLRGLPGSVGQQGRPGATGQAGPPGPVGPPGLPGL   1331 - 1400
RGDAGAKGEKGHPGLIGLIGPPGEQGEKGDRGLPGPQGSPGQKGEMGIPGASGPIGPGGPPGLPGPAGPK   1401 - 1470
GAKGATGPGGPKGEKGVQGPPGHPGPPGEVIQPLPIQMPKKTRRSVDGSRLMQEDEAIPTGGAPGSPGGL   1471 - 1540
EEIFGSLDSLREEIEQMRRPTGTQDSPARTCQDLKLCHPELPDGEYWVDPNQGCARDAFRVFCNFTAGGE   1541 - 1610
TCVTPRDDVTQFSYVDSEGSPVGVVQLTFLRLLSVSAHQDVSYPCSGAARDGPLRLRGANEDELSPETSP   1611 - 1680
YVKEFRDGCQTQQGRTVLEVRTPVLEQLPVLDASFSDLGAPPRRGGVLLGPVCFMG                 1681 - 1736
//

Text Mined References (62)

PMID Year Title