Property Summary

NCBI Gene PubMed Count 126
PubMed Score 70.06
PubTator Score 122.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Chromosome 15q24 deletion syndrome 12
15q24 Microdeletion 1
Abnormality of cardiovascular system morphology 23
Abnormality of the thorax 19
Abnormality of the voice 46
Abnormally small eyeball 97
Acquired scoliosis 281
Aggressive behavior 75
Aggressive reaction 75
Anisocoria 2
Anteverted nostril 191
Arachnodactyly 49
Attention deficit hyperactivity disorder 278
Autism Spectrum Disorders 75
Autistic Disorder 364
Bilateral single transverse palmar creases 34
Birthmark 35
Bowed and upward slanting eyebrows 41
Brachydactyly 156
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Capuchin ears 17
Cognitive delay 608
Coloboma of iris 38
Congenital Epicanthus 177
Congenital clinodactyly 57
Congenital deafness 185
Congenital diaphragmatic hernia 67
Congenital ear anomaly NOS (disorder) 29
Congenital hypoplasia of penis 176
Conspicuously happy disposition 2
Convex nasal bridge 57
Cryptorchidism 296
Cupped ears (finding) 17
Curvature of digit 57
Curvature of spine 282
Deafness 198
Decreased size of eyeball 97
Delayed speech and language development 112
Developmental regression 95
Downward slant of palpebral fissure 158
Dull intelligence 645
Dysgenesis of corpus callosum 3
Enophthalmos 75
Facial asymmetry 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Full lower lip 64
Gastrointestinal atresia 1
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hernia, Inguinal 89
High anterior hairline 7
High forehead 102
High, narrow palate 32
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hyperactive behavior 91
Hyperopia 70
Hypogonadism 173
Hypoplasia of thumb 26
Immunologic Deficiency Syndromes 113
Infant, Small for Gestational Age 176
Intestinal atresia 12
Intrauterine retardation 176
Isolated cases 72
Isolated somatotropin deficiency 30
Joint hyperflexibility 78
Joint laxity 54
Language Delay 112
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long face 71
Long philtrum 137
Loss of developmental milestones 95
Low Birth Weights 69
Low intelligence 645
Macrotia 87
Malformed pinnae 37
Medial eyebrow flare 4
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Microphthalmos 100
Microretrognathia 13
Microstomia 78
Muscle hypotonia 571
Narrow face 54
Nasal bridge wide 236
Nasal flaring 2
Neurodevelopmental regression 95
Nystagmus 317
Obesity 678
Open mouth 45
Orbital separation excessive 244
Penile hypospadias 106
Phenotypic variability 150
Physical aggression 76
Polyhydramnios 108
Poor growth 114
Poor school performance 645
Prominent lower lip 64
Prominent nasal bridge 57
Proximally placed thumbs 17
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Radially deviated fingers 38
Recurrent infections 48
Short hands 50
Short nose 132
Short stature 531
Single transverse palmar crease 29
Sleep disturbances 37
Small for gestational age (disorder) 69
Small head 374
Small nose 132
Small penis 5
Smooth philtrum 43
Sparse eyebrow 42
Speech Delay 112
Speech impairment 112
Strabismus 270
Sunken eyes 63
Syndactyly of the toes 45
Tall forehead 102
Thick nasal alae 5
Thick, flared eyebrows 41
Thin face 54
Thin hypoplastic alae nasi 51
Thin lips 49
Upward slant of palpebral fissure 75
Very poor growth 114
Wide nose 35
Widely spaced teeth 31
hearing impairment 199
Disease Target Count P-value
psoriasis 6694 2.8e-12
ovarian cancer 8520 1.1e-04
pituitary cancer 1972 3.8e-04
osteosarcoma 7950 1.2e-03
group 3 medulloblastoma 4104 1.7e-03
subependymal giant cell astrocytoma 2287 1.7e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.7
Disease Target Count Z-score Confidence
Heart disease 306 0.0 1.2
Disease Target Count Z-score Confidence
Rett syndrome 18 3.69 1.8
Disease Target Count
15q24 microdeletion syndrome 1

Expression

  Differential Expression (6)

Disease log2 FC p
group 3 medulloblastoma 1.200 1.7e-03
osteosarcoma -1.273 1.2e-03
ovarian cancer 1.300 1.1e-04
pituitary cancer 1.300 3.8e-04
psoriasis -1.200 2.8e-12
subependymal giant cell astrocytoma -1.198 1.7e-02

Protein-protein Interaction (4)

Gene RIF (41)

AA Sequence

MKRRLDDQESPVYAAQQRRIPGSTEAFPHQHRVLAPAPPVYEAVSETMQSATGIQYSVTPSYQVSAMPQS      1 - 70
SGSHGPAIAAVHSSHHHPTAVQPHGGQVVQSHAHPAPPVAPVQGQQQFQRLKVEDALSYLDQVKLQFGSQ     71 - 140
PQVYNDFLDIMKEFKSQSIDTPGVISRVSQLFKGHPDLIMGFNTFLPPGYKIEVQTNDMVNVTTPGQVHQ    141 - 210
IPTHGIQPQPQPPPQHPSQPSAQSAPAPAQPAPQPPPAKVSKPSQLQAHTPASQQTPPLPPYASPRSPPV    211 - 280
QPHTPVTISLGTAPSLQNNQPVEFNHAINYVNKIKNRFQGQPDIYKAFLEILHTYQKEQRNAKEAGGNYT    281 - 350
PALTEQEVYAQVARLFKNQEDLLSEFGQFLPDANSSVLLSKTTAEKVDSVRNDHGGTVKKPQLNNKPQRP    351 - 420
SQNGCQIRRHPTGTTPPVKKKPKLLNLKDSSMADASKHGGGTESLFFDKVRKALRSAEAYENFLRCLVIF    421 - 490
NQEVISRAELVQLVSPFLGKFPELFNWFKNFLGYKESVHLETYPKERATEGIAMEIDYASCKRLGSSYRA    491 - 560
LPKSYQQPKCTGRTPLCKEVLNDTWVSFPSWSEDSTFVSSKKTQYEEHIYRCEDERFELDVVLETNLATI    561 - 630
RVLEAIQKKLSRLSAEEQAKFRLDNTLGGTSEVIHRKALQRIYADKAADIIDGLRKNPSIAVPIVLKRLK    631 - 700
MKEEEWREAQRGFNKVWREQNEKYYLKSLDHQGINFKQNDTKVLRSKSLLNEIESIYDERQEQATEENAG    701 - 770
VPVGPHLSLAYEDKQILEDAAALIIHHVKRQTGIQKEDKYKIKQIMHHFIPDLLFAQRGDLSDVEEEEEE    771 - 840
EMDVDEATGAVKKHNGVGGSPPKSKLLFSNTAAQKLRGMDEVYNLFYVNNNWYIFMRLHQILCLRLLRIC    841 - 910
SQAERQIEEENREREWEREVLGIKRDKSDSPAIQLRLKEPMDVDVEDYYPAFLDMVRSLLDGNIDSSQYE    911 - 980
DSLREMFTIHAYIAFTMDKLIQSIVRQLQHIVSDEICVQVTDLYLAENNNGATGGQLNTQNSRSLLESTY    981 - 1050
QRKAEQLMSDENCFKLMFIQSQGQVQLTIELLDTEEENSDDPVEAERWSDYVERYMNSDTTSPELREHLA   1051 - 1120
QKPVFLPRNLRRIRKCQRGREQQEKEGKEGNSKKTMENVDSLDKLECRFKLNSYKMVYVIKSEDYMYRRT   1121 - 1190
ALLRAHQSHERVSKRLHQRFQAWVDKWTKEHVPREMAAETSKWLMGEGLEGLVPCTTTCDTETLHFVSIN   1191 - 1260
KYRVKYGTVFKAP                                                            1261 - 1273
//

Text Mined References (140)

PMID Year Title