Property Summary

Ligand Count 54
NCBI Gene PubMed Count 50
PubMed Score 86.36
PubTator Score 58.66

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Renal Cell Carcinoma 214
Aggressive behavior 75
Aggressive reaction 75
Alopecia areata 41
Atony of facial musculature 3
Babinski Reflex 100
Big calvaria 147
Brachydactyly 156
Class III malocclusion 78
Congenital clubfoot 109
Congenital hypoplasia of penis 176
Cryptorchidism 296
Decreased projection of maxilla 66
Deficiency of upper jaw bones 66
Delayed speech and language development 112
Diastema of Teeth 4
Enophthalmos 75
Epilepsy 792
Facial hypotonia 3
Fissured tongue 25
Gait, Shuffling 8
High, narrow palate 32
Hyperopia 70
Hyperreflexia 209
Hypertrophy of lower jaw 78
Hypoplasia of forehead 2
Hypoplasia of the maxilla 66
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Hypotrophic forehead 2
Hypotrophic maxilla 66
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large hand 18
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Low frustration tolerance 2
Lower limb atrophy 8
Lower limb hyperreflexia 10
Lower limb hypertonia 2
Lower limb muscle hypotrophy 8
Macrotia 87
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Maxillary retrognathia 66
Micrognathism 275
Muscle Spasticity 195
Muscle atrophy, lower limb, distal 8
Myopia 176
Pectus excavatum 100
Physical aggression 76
Progressive mental retardation 37
Progressive spastic paraplegia 2
Restlessness 14
Retrusion of upper jaw bones 66
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short distal phalanges 50
Short stature 531
Small forehead 2
Smooth philtrum 43
Speech Delay 112
Speech impairment 112
Sunken eyes 63
Talipes Calcaneovarus 2
Thin upper lip vermilion 67
Upward slant of palpebral fissure 75
X- linked recessive 110
mandibular excess (physical finding) 78
Disease Target Count P-value
ovarian cancer 8520 1.1e-06
psoriasis 6694 5.6e-05
osteosarcoma 7950 7.9e-05
lung cancer 4740 5.4e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.4
Kidney cancer 2613 0.0 0.8
Large intestine cancer 126 0.0 1.0
Disease Target Count Z-score Confidence
Jensen syndrome 6 4.287 2.1

Expression

  Differential Expression (4)

Disease log2 FC p
lung cancer 1.100 5.4e-03
osteosarcoma -1.446 7.9e-05
ovarian cancer -1.100 1.1e-06
psoriasis -1.900 5.6e-05

Gene RIF (36)

AA Sequence

MEPGSDDFLPPPECPVFEPSWAEFRDPLGYIAKIRPIAEKSGICKIRPPADWQPPFAVEVDNFRFTPRIQ      1 - 70
RLNELEAQTRVKLNYLDQIAKFWEIQGSSLKIPNVERRILDLYSLSKIVVEEGGYEAICKDRRWARVAQR     71 - 140
LNYPPGKNIGSLLRSHYERIVYPYEMYQSGANLVQCNTRPFDNEEKDKEYKPHSIPLRQSVQPSKFNSYG    141 - 210
RRAKRLQPDPEPTEEDIEKNPELKKLQIYGAGPKMMGLGLMAKDKTLRKKDKEGPECPPTVVVKEELGGD    211 - 280
VKVESTSPKTFLESKEELSHSPEPCTKMTMRLRRNHSNAQFIESYVCRMCSRGDEDDKLLLCDGCDDNYH    281 - 350
IFCLLPPLPEIPKGVWRCPKCVMAECKRPPEAFGFEQATREYTLQSFGEMADSFKADYFNMPVHMVPTEL    351 - 420
VEKEFWRLVNSIEEDVTVEYGADIHSKEFGSGFPVSDSKRHLTPEEEEYATSGWNLNVMPVLEQSVLCHI    421 - 490
NADISGMKVPWLYVGMVFSAFCWHIEDHWSYSINYLHWGEPKTWYGVPSLAAEHLEEVMKKLTPELFDSQ    491 - 560
PDLLHQLVTLMNPNTLMSHGVPVVRTNQCAGEFVITFPRAYHSGFNQGYNFAEAVNFCTADWLPAGRQCI    561 - 630
EHYRRLRRYCVFSHEELICKMAACPEKLDLNLAAAVHKEMFIMVQEERRLRKALLEKGITEAEREAFELL    631 - 700
PDDERQCIKCKTTCFLSALACYDCPDGLVCLSHINDLCKCSSSRQYLRYRYTLDELPAMLHKLKVRAESF    701 - 770
DTWANKVRVALEVEDGRKRSLEELRALESEARERRFPNSELLQQLKNCLSEAEACVSRALGLVSGQEAGP    771 - 840
HRVAGLQMTLTELRAFLDQMNNLPCAMHQIGDVKGVLEQVEAYQAEAREALASLPSSPGLLQSLLERGRQ    841 - 910
LGVEVPEAQQLQRQVEQARWLDEVKRTLAPSARRGTLAVMRGLLVAGASVAPSPAVDKAQAELQELLTIA    911 - 980
ERWEEKAHLCLEARQKHPPATLEAIIREAENIPVHLPNIQALKEALAKARAWIADVDEIQNGDHYPCLDD    981 - 1050
LEGLVAVGRDLPVGLEELRQLELQVLTAHSWREKASKTFLKKNSCYTLLEVLCPCADAGSDSTKRSRWME   1051 - 1120
KELGLYKSDTELLGLSAQDLRDPGSVIVAFKEGEQKEKEGILQLRRTNSAKPSPLASSSTASSTTSICVC   1121 - 1190
GQVLAGAGALQCDLCQDWFHGRCVSVPRLLSSPRPNPTSSPLLAWWEWDTKFLCPLCMRSRRPRLETILA   1191 - 1260
LLVALQRLPVRLPEGEALQCLTERAISWQGRARQALASEDVTALLGRLAELRQRLQAEPRPEEPPNYPAA   1261 - 1330
PASDPLREGSGKDMPKVQGLLENGDSVTSPEKVAPEEGSGKRDLELLSSLLPQLTGPVLELPEATRAPLE   1331 - 1400
ELMMEGDLLEVTLDENHSIWQLLQAGQPPDLERIRTLLELEKAERHGSRARGRALERRRRRKVDRGGEGD   1401 - 1470
DPAREELEPKRVRSSGPEAEEVQEEEELEEETGGEGPPAPIPTTGSPSTQENQNGLEPAEGTTSGPSAPF   1471 - 1540
STLTPRLHLPCPQQPPQQQL                                                     1541 - 1560
//

Text Mined References (62)

PMID Year Title