Property Summary

NCBI Gene PubMed Count 80
PubMed Score 54.93
PubTator Score 37.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE 1 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormal hair pattern 1
Abnormality of earlobe 5
Absent speech 43
Acquired flat foot 72
Acquired scoliosis 281
Aggressive behavior 75
Aggressive reaction 75
Big calvaria 147
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Broad-based gait 19
Byzanthine arch palate 194
Cachexia 50
Coarse facial features 108
Congenital hypoplasia of penis 176
Congenital pes cavus 88
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Delayed Puberty 97
Downward slant of palpebral fissure 158
Dull intelligence 645
Epilepsy 792
Flatfoot 73
Full lower lip 64
Gait Ataxia 51
Gynecomastia 64
Hernia, Inguinal 89
Hyperactive behavior 91
Hyperkyphosis 111
Hyperplasia of nose 23
Hypertrophy of nose 23
Hypogonadism 173
Hypoplastic feet 66
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Joint laxity 54
Kyphosis deformity of spine 114
Large nose 23
Linear atrophy 15
Low intelligence 645
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT 1
Macroglossia 65
Macrostomia 72
Mental Retardation 645
Mental deficiency 645
Moderate mental retardation (I.Q. 35-49) 28
Mood swings 77
Muscle hypotonia 571
Obesity 678
Obesity, Abdominal 24
Open Bite 21
Penile hypospadias 106
Physical aggression 76
Poor school performance 645
Prominent lower lip 64
Relative macrocephaly 12
Sandal gap 24
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Short hands 50
Short neck 140
Short philtrum 53
Short stature 531
Sloping shoulders 21
Small hand 36
Small testicle 75
Synophrys 40
Thickened facial skin with coarse facial features 108
Tremor 113
X- linked recessive 110
nonverbal 43
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9

Expression

  Differential Expression (15)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.400 6.9e-06
ependymoma 1.200 2.1e-07
Gaucher disease type 3 -1.200 2.1e-02
glioblastoma 1.400 6.7e-03
group 4 medulloblastoma 1.700 6.4e-05
Hydrolethalus syndrome 1.005 3.9e-02
lung cancer 1.100 3.2e-02
malignant mesothelioma -1.100 1.8e-06
medulloblastoma, large-cell 1.600 8.9e-05
osteosarcoma 1.254 5.7e-04
ovarian cancer -1.500 5.6e-07
pediatric high grade glioma 1.200 2.7e-03
primitive neuroectodermal tumor 1.200 5.1e-05
psoriasis 1.100 1.4e-03
spina bifida -1.204 3.6e-02

Protein-protein Interaction (4)

Gene RIF (46)

AA Sequence

MMSQSSGSGDGNDDEATTSKDGGFSSPSPSAAAAAQEVRSATDGNTSTTPPTSAKKRKLNSSSSSSSNSS      1 - 70
NEREDFDSTSSSSSTPPLQPRDSASPSTSSFCLGVSVAASSHVPIQKKLRFEDTLEFVGFDAKMAEESSS     71 - 140
SSSSSSPTAATSQQQQLKNKSILISSVASVHHANGLAKSSTTVSSFANSKPGSAKKLVIKNFKDKPKLPE    141 - 210
NYTDETWQKLKEAVEAIQNSTSIKYNLEELYQAVENLCSYKISANLYKQLRQICEDHIKAQIHQFREDSL    211 - 280
DSVLFLKKIDRCWQNHCRQMIMIRSIFLFLDRTYVLQNSMLPSIWDMGLELFRAHIISDQKVQNKTIDGI    281 - 350
LLLIERERNGEAIDRSLLRSLLSMLSDLQIYQDSFEQRFLEETNRLYAAEGQKLMQEREVPEYLHHVNKR    351 - 420
LEEEADRLITYLDQTTQKSLIATVEKQLLGEHLTAILQKGLNNLLDENRIQDLSLLYQLFSRVRGGVQVL    421 - 490
LQQWIEYIKAFGSTIVINPEKDKTMVQELLDFKDKVDHIIDICFLKNEKFINAMKEAFETFINKRPNKPA    491 - 560
ELIAKYVDSKLRAGNKEATDEELEKMLDKIMIIFRFIYGKDVFEAFYKKDLAKRLLVGKSASVDAEKSML    561 - 630
SKLKHECGAAFTSKLEGMFKDMELSKDIMIQFKQYMQNQNVPGNIELTVNILTMGYWPTYVPMEVHLPPE    631 - 700
MVKLQEIFKTFYLGKHSGRKLQWQSTLGHCVLKAEFKEGKKELQVSLFQTLVLLMFNEGEEFSLEEIKQA    701 - 770
TGIEDGELRRTLQSLACGKARVLAKNPKGKDIEDGDKFICNDDFKHKLFRIKINQIQMKETVEEQASTTE    771 - 840
RVFQDRQYQIDAAIVRIMKMRKTLSHNLLVSEVYNQLKFPVKPADLKKRIESLIDRDYMERDKENPNQYN    841 - 910
YIA                                                                       911 - 913
//

Text Mined References (93)

PMID Year Title