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 22
Abnormality of the thorax 18
Abnormality of the voice 46
Abnormally small eyeball 94
Acquired scoliosis 274
Aggressive behavior 75
Aggressive reaction 75
Anisocoria 2
Anteverted nostril 186
Arachnodactyly 49
Attention deficit hyperactivity disorder 272
Autism Spectrum Disorders 73
Autistic Disorder 358
Bilateral single transverse palmar creases 34
Birthmark 35
Bowed and upward slanting eyebrows 39
Brachydactyly 154
Broad flat nasal bridge 232
Byzanthine arch palate 194
Cafe-au-Lait Spots 37
Capuchin ears 16
Cognitive delay 596
Coloboma of iris 37
Congenital Epicanthus 175
Congenital clinodactyly 57
Congenital deafness 180
Congenital diaphragmatic hernia 66
Congenital ear anomaly NOS (disorder) 28
Congenital hypoplasia of penis 168
Conspicuously happy disposition 2
Convex nasal bridge 56
Cryptorchidism 287
Cupped ears (finding) 16
Curvature of digit 57
Curvature of spine 275
Deafness 193
Decreased size of eyeball 94
Delayed speech and language development 110
Developmental regression 94
Downward slant of palpebral fissure 158
Dull intelligence 634
Dysgenesis of corpus callosum 3
Enophthalmos 74
Facial asymmetry 31
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Full lower lip 61
Gastrointestinal atresia 1
Global developmental delay 596
Growth delay 112
Growth failure 112
Growth retardation 113
Hearing Loss, Partial 180
Hernia, Inguinal 88
High anterior hairline 7
High forehead 101
High, narrow palate 32
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hyperactive behavior 90
Hyperopia 68
Hypogonadism 169
Hypoplasia of thumb 26
Immunologic Deficiency Syndromes 110
Infant, Small for Gestational Age 174
Intestinal atresia 12
Intrauterine retardation 174
Isolated cases 70
Isolated somatotropin deficiency 28
Joint hyperflexibility 76
Joint laxity 52
Language Delay 110
Large auricle 85
Large dysplastic ears 85
Large pinnae 85
Large prominent ears 85
Large protruding ears 85
Large, floppy ears 85
Long face 71
Long philtrum 137
Loss of developmental milestones 94
Low Birth Weights 69
Low intelligence 634
Macrotia 85
Malformed pinnae 36
Medial eyebrow flare 4
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental deterioration in childhood 94
Microphthalmos 95
Microretrognathia 13
Microstomia 76
Muscle hypotonia 562
Narrow face 54
Nasal bridge wide 232
Nasal flaring 2
Neurodevelopmental regression 94
Nystagmus 309
Obesity 655
Open mouth 44
Orbital separation excessive 240
Penile hypospadias 102
Phenotypic variability 147
Physical aggression 76
Polyhydramnios 106
Poor growth 112
Poor school performance 634
Prominent lower lip 61
Prominent nasal bridge 56
Proximally placed thumbs 16
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Radially deviated fingers 38
Recurrent infections 48
Short hands 50
Short nose 127
Short stature 514
Single transverse palmar crease 29
Sleep disturbances 37
Small for gestational age (disorder) 69
Small head 366
Small nose 127
Small penis 5
Smooth philtrum 43
Sparse eyebrow 40
Speech Delay 110
Speech impairment 110
Strabismus 265
Sunken eyes 62
Syndactyly of the toes 45
Tall forehead 101
Thick nasal alae 5
Thick, flared eyebrows 39
Thin face 54
Thin hypoplastic alae nasi 50
Thin lips 49
Upward slant of palpebral fissure 74
Very poor growth 112
Wide nose 35
Widely spaced teeth 31
hearing impairment 194
Disease Target Count P-value
psoriasis 6514 2.8e-12
ovarian cancer 8297 1.1e-04
pituitary cancer 1915 3.8e-04
osteosarcoma 7766 1.2e-03
group 3 medulloblastoma 4002 1.7e-03
subependymal giant cell astrocytoma 2230 1.7e-02
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.1
Kidney cancer 2548 0.0 0.7
Disease Target Count Z-score Confidence
Heart disease 288 0.0 1.2
Disease Target Count Z-score Confidence
Rett syndrome 17 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