Property Summary

Ligand Count 2
NCBI Gene PubMed Count 71
PubMed Score 176.83
PubTator Score 101.13

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Abnormal behavior 52
Abnormal dermatoglyphic pattern 24
Abnormal vertebral bodies 16
Abnormality of the breast 2
Acquired scoliosis 281
Adenoid Cystic Carcinoma 99
Anemia, Hemolytic 55
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anoperineal fistula 2
Anus, Imperforate 46
Aortic coarctation 30
Atrial Septal Defects 85
Autoimmune thrombocytopenia 22
Birthmark 35
Bladder Neoplasm 112
Blepharoptosis 231
Blue sclera 32
Bowed and upward slanting eyebrows 41
Broad flat nasal bridge 236
Broad nasal tip 28
Butterfly vertebrae 7
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Central hypotonia 5
Cerebral atrophy 178
Cleft Palate 271
Cognitive delay 608
Conductive hearing loss 123
Congenital anomaly of spine 16
Congenital deafness 185
Congenital hemivertebra 25
Congenital hypoplasia of penis 176
Congenital hypothyroidism 26
Congenital malrotation of intestine 16
Crossed fused renal ectopia 2
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased size of teeth 62
Decreased width of tooth 59
Dental abnormalities 60
Depressed nasal tip 11
Dilated ventricles (finding) 121
Dull intelligence 645
Epilepsy 792
Eversion of lateral third of lower eyelids 4
Failure to gain weight 365
Feeding difficulties 127
Feeding difficulties in infancy 175
Generalized joint laxity 6
Global developmental delay 608
Hearing Loss, Partial 185
Heart Septal Defects 24
Hip Dislocation, Congenital 48
Hirsutism 47
Hydrocephalus 152
Hypodontia 81
Hypoplasia of columella 7
Idiopathic thrombocytopenia 22
Immune thrombocytopenic purpura 24
Joint hyperflexibility 78
Kabuki make-up syndrome 4
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Laterally sparse eyebrows 12
Long eyelashes 37
Long palpebral fissure 17
Low intelligence 645
Macrotia 87
Malabsorption 82
Malocclusion 57
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microdontia (disorder) 59
Multiple vertebral anomalies 16
Muscle hypotonia 571
Nasal bridge wide 236
Neonatal hypoglycemia 17
Obstruction of pelviureteric junction 8
Pediatric failure to thrive 365
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Premature development of the breasts 5
Prominent ear 56
Prominent fingertip pads 6
Protruding ears 56
Range of joint movement increased 32
Recurrent aspiration pneumonia 4
Recurrent infections 48
Recurrent otitis media 42
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short columella 7
Short fifth finger 9
Short middle phalanges 12
Short stature 531
Small head 374
Sparse eyebrow 42
Squamous cell carcinoma of esophagus 77
Strabismus 270
Stricture of anus 13
Thick, flared eyebrows 41
Tooth Abnormalities 69
Underweight 17
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Weight decreased 103
Weight less than 3rd percentile 17
Widely spaced teeth 31
X-linked dominant 57
hearing impairment 199
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Infertility 188 4.518 2.3
Cancer 2499 3.914 2.0
Disease Target Count
Kabuki Syndrome 2 2
Kabuki syndrome 1 2

Expression

  Differential Expression (14)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.600 1.4e-04
breast carcinoma 1.100 6.5e-03
Down syndrome 1.200 5.4e-04
glioblastoma 1.300 1.7e-03
group 3 medulloblastoma 1.500 6.5e-04
intraductal papillary-mucinous adenoma (... 1.300 3.1e-05
intraductal papillary-mucinous carcinoma... 1.300 2.8e-03
intraductal papillary-mucinous neoplasm ... 1.200 2.9e-02
lung adenocarcinoma 1.438 4.5e-07
medulloblastoma, large-cell -2.000 8.6e-03
osteosarcoma 1.940 1.1e-03
ovarian cancer -1.900 1.2e-06
psoriasis -1.100 1.4e-05
tuberculosis -1.500 1.0e-04

Gene RIF (59)

AA Sequence

MKSCGVSLATAAAAAAAFGDEEKKMAAGKASGESEEASPSLTAEEREALGGLDSRLFGFVRFHEDGARTK      1 - 70
ALLGKAVRCYESLILKAEGKVESDFFCQLGHFNLLLEDYPKALSAYQRYYSLQSDYWKNAAFLYGLGLVY     71 - 140
FHYNAFQWAIKAFQEVLYVDPSFCRAKEIHLRLGLMFKVNTDYESSLKHFQLALVDCNPCTLSNAEIQFH    141 - 210
IAHLYETQRKYHSAKEAYEQLLQTENLSAQVKATVLQQLGWMHHTVDLLGDKATKESYAIQYLQKSLEAD    211 - 280
PNSGQSWYFLGRCYSSIGKVQDAFISYRQSIDKSEASADTWCSIGVLYQQQNQPMDALQAYICAVQLDHG    281 - 350
HAAAWMDLGTLYESCNQPQDAIKCYLNATRSKSCSNTSALAARIKYLQAQLCNLPQGSLQNKTKLLPSIE    351 - 420
EAWSLPIPAELTSRQGAMNTAQQNTSDNWSGGHAVSHPPVQQQAHSWCLTPQKLQHLEQLRANRNNLNPA    421 - 490
QKLMLEQLESQFVLMQQHQMRPTGVAQVRSTGIPNGPTADSSLPTNSVSGQQPQLALTRVPSVSQPGVRP    491 - 560
ACPGQPLANGPFSAGHVPCSTSRTLGSTDTILIGNNHITGSGSNGNVPYLQRNALTLPHNRTNLTSSAEE    561 - 630
PWKNQLSNSTQGLHKGQSSHSAGPNGERPLSSTGPSQHLQAAGSGIQNQNGHPTLPSNSVTQGAALNHLS    631 - 700
SHTATSGGQQGITLTKESKPSGNILTVPETSRHTGETPNSTASVEGLPNHVHQMTADAVCSPSHGDSKSP    701 - 770
GLLSSDNPQLSALLMGKANNNVGTGTCDKVNNIHPAVHTKTDNSVASSPSSAISTATPSPKSTEQTTTNS    771 - 840
VTSLNSPHSGLHTINGEGMEESQSPMKTDLLLVNHKPSPQIIPSMSVSIYPSSAEVLKACRNLGKNGLSN    841 - 910
SSILLDKCPPPRPPSSPYPPLPKDKLNPPTPSIYLENKRDAFFPPLHQFCTNPNNPVTVIRGLAGALKLD    911 - 980
LGLFSTKTLVEANNEHMVEVRTQLLQPADENWDPTGTKKIWHCESNRSHTTIAKYAQYQASSFQESLREE    981 - 1050
NEKRSHHKDHSDSESTSSDNSGRRRKGPFKTIKFGTNIDLSDDKKWKLQLHELTKLPAFVRVVSAGNLLS   1051 - 1120
HVGHTILGMNTVQLYMKVPGSRTPGHQENNNFCSVNINIGPGDCEWFVVPEGYWGVLNDFCEKNNLNFLM   1121 - 1190
GSWWPNLEDLYEANVPVYRFIQRPGDLVWINAGTVHWVQAIGWCNNIAWNVGPLTACQYKLAVERYEWNK   1191 - 1260
LQSVKSIVPMVHLSWNMARNIKVSDPKLFEMIKYCLLRTLKQCQTLREALIAAGKEIIWHGRTKEEPAHY   1261 - 1330
CSICEVEVFDLLFVTNESNSRKTYIVHCQDCARKTSGNLENFVVLEQYKMEDLMQVYDQFTLAPPLPSAS   1331 - 1400
S//

Text Mined References (76)

PMID Year Title