Property Summary

NCBI Gene PubMed Count 16
PubMed Score 3.98
PubTator Score 3.85

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Short Rib-Polydactyly Syndrome 13 0.0 0.0
Disease Target Count
Abdomen distended 43
Abnormal maturation of the pelvis bone 3
Abnormal pelvis bone ossification 3
Abnormal skeletal development 60
Abnormality of cardiovascular system morphology 23
Abnormality of pelvic girdle bone morphology 37
Abnormality of the clavicle 14
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Absent or minimally ossified vertebral bodies 3
Acetabular spurs 3
Ambiguous Genitalia 24
Autosomal recessive predisposition 1442
Big calvaria 147
Brachydactyly 156
Cleft Lip 141
Concave bridge of nose 195
Cone-shaped epiphyses 24
Congenital Epicanthus 177
Congenital duplication of uterus 3
Congenital hypoplasia of kidney 32
Congenital hypoplasia of lung 48
Congenital hypoplasia of penis 176
Cryptorchidism 296
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Failure to gain weight 365
Femoral bowing 20
Fibrosis of pancreas 3
Frontal bossing 157
Hepatic Fibrosis, Congenital 10
Hydronephrosis 89
Hydrops Fetalis 21
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Jeune thoracic dystrophy 10
Lethal skeletal dysplasia 6
Long philtrum 137
Mandibular hypoplasia 275
Micrognathism 275
Micromelia 58
Narrow thorax 53
Osteochondrodysplasias 72
POLYDACTYLY, POSTAXIAL 13
Pediatric failure to thrive 365
Polyhydramnios 108
Radial polydactyly 8
Respiratory Insufficiency 132
Respiratory function loss 121
Short hands 50
Short limb dwarfism, disproportionate 22
Short rib-polydactyly syndrome, Verma-Naumoff type 5
Short ribs 30
Short stature 531
Short thorax 21
Short tubular bones 22
Sternal anomalies 19
Syndactyly 88
Thoracic dysplasia 3
Ulnar polydactyly of fingers 47
Urethrovaginal fistula 1
Uterus bilocularis 3
Ventricular Septal Defects 119
Wide nose 35
Disease Target Count P-value
ependymoma 4679 8.0e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Polydactyly 107 4.413 2.2
Ciliopathy 71 3.647 1.8

Expression

  Differential Expression (1)

Disease log2 FC p
ependymoma 1.400 8.0e-03

Gene RIF (2)

AA Sequence

MEPGKRRTKDDTWKADDLRKHLWAIQSGGSKEERKHREKKLRKESEMDLPEHKEPRCRDPDQDARSRDRV      1 - 70
AEVHTAKESPRGERDRDRQRERRRDAKDREKEKLKEKHREAEKSHSRGKDREKEKDRRARKEELRQTVAH     71 - 140
HNLLGQETRDRQLLERAERKGRSVSKVRSEEKDEDSERGDEDRERRYRERKLQYGDSKDNPLKYWLYKEE    141 - 210
GERRHRKPREPDRDNKHREKSSTREKREKYSKEKSNSFSDKGEERHKEKRHKEGFHFDDERHQSNVDRKE    211 - 280
KSAKDEPRKRESQNGEHRNRGASSKRDGTSSQHAENLVRNHGKDKDSRRKHGHEEGSSVWWKLDQRPGGE    281 - 350
ETVEIEKEETDLENARADAYTASCEDDFEDYEDDFEVCDGDDDESSNEPESREKLEELPLAQKKEIQEIQ    351 - 420
RAINAENERIGELSLKLFQKRGRTEFEKEPRTDTNSSPSRASVCGIFVDFASASHRQKSRTQALKQKMRS    421 - 490
TKLLRLIDLDFSFTFSLLDLPPVNEYDMYIRNFGKKNTKQAYVQCNEDNVERDIQTEEIETREVWTQHPG    491 - 560
ESTVVSGGSEQRDTSDAVVMPKIDTPRLCSFLRAACQVMAVLLEEDRLAAEPSWNLRAQDRALYFSDSSS    561 - 630
QLNTSLPFLQNRKVSSLHTSRVQRQMVVSVHDLPEKSFVPLLDSKYVLCVWDIWQPSGPQKVLICESQVT    631 - 700
CCCLSPLKAFLLFAGTAHGSVVVWDLREDSRLHYSVTLSDGFWTFRTATFSTDGILTSVNHRSPLQAVEP    701 - 770
ISTSVHKKQSFVLSPFSTQEEMSGLSFHIASLDESGVLNVWVVVELPKADIAGSISDLGLMPGGRVKLVH    771 - 840
SALIQLGDSLSHKGNEFWGTTQTLNVKFLPSDPNHFIIGTDMGLISHGTRQDLRVAPKLFKPQQHGIRPV    841 - 910
KVNVIDFSPFGEPIFLAGCSDGSIRLHQLSSAFPLLQWDSSTDSHAVTGLQWSPTRPAVFLVQDDTSNIY    911 - 980
IWDLLQSDLGPVAKQQVSPNRLVAMAAVGEPEKAGGSFLALVLARASGSIDIQHLKRRWAAPEVDECNRL    981 - 1050
RLLLQEALWPEGKLHK                                                         1051 - 1066
//

Text Mined References (21)

PMID Year Title