Property Summary

NCBI Gene PubMed Count 70
PubMed Score 186.27
PubTator Score 118.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Intellectual disability 1016
Abnormal behavior 52
Abnormal umbilicus 2
Abnormally low-pitched voice 6
Absent auditory canals 23
Absent external auditory canals 23
Absent finger 4
Accessory rib 10
Anteverted nostril 191
Anxiety 136
Anxiety disease 113
Astigmatism 54
Atresia of the external auditory canal 23
Atretic auditory canal 23
Attention deficit hyperactivity disorder 278
Bilateral fifth finger clinodactyly 110
Bilateral single transverse palmar creases 34
Blepharitis 23
Blepharoptosis 231
Bowed and upward slanting eyebrows 41
Brachycephaly 88
Broad cranium shape 88
Bushy eyebrows 49
Byzanthine arch palate 194
Cellulitis of eyelid 17
Choanal Atresia 42
Cleft Lip 141
Cleft Palate 271
Coloboma of optic disc 9
Concave bridge of nose 195
Conductive hearing loss 123
Congenital Heart Defects 58
Congenital diaphragmatic hernia 67
Congenital dislocation of radial head 14
Congenital hypoplasia of penis 176
Congenital hypoplasia of radius 23
Corneal diameter decreased 47
Cryptorchidism 296
Curly eyelashes 6
Curvature of little finger 110
Cutis marmorata 32
Decreased platelet count 111
Delayed bone age 136
Delayed speech and language development 112
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downturned corners of mouth 48
Dull intelligence 645
Duplication of internal organs 2
Ectopic kidney 11
Epilepsy 792
Exophthalmos 112
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flexion contracture - elbow 32
Gastroesophageal reflux disease 110
Generalized hirsutism 36
Hearing problem 3
Heartburn 78
Hernia, Inguinal 89
Hiatal Hernia 7
High, narrow palate 32
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hirsutism 47
Hypoplasia of nipple 16
Hypoplastic feet 66
Hypoplastic male genitalia 7
Hypoplastic mandible condyle 275
Hypoplastic radial head 2
Hypoplastic sternum 5
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Isolated cases 72
Joint stiffness 84
Language Delay 112
Late tooth eruption 61
Limited elbow extension 19
Long eyelashes 37
Long philtrum 137
Loss of definition of corticomedullary differentiation 2
Low anterior hairline 30
Low intelligence 645
Low posterior hairline 52
Low set ears 181
Low-set, posteriorly rotated ears 110
Malrotation of colon 2
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Microcornea 47
Micrognathism 275
Micromelia 58
Multicystic Dysplastic Kidney 52
Muscle Hypertonia 88
Myopia 176
Nystagmus 317
Obsessive compulsive behavior 25
Optic Atrophy 242
Pediatric failure to thrive 365
Penile hypospadias 106
Phenotypic variability 150
Phocomelia 2
Phthisis bulbi 5
Pneumonia 174
Poor school performance 645
Premature Birth 77
Premature birth of newborn 67
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Proximally placed thumbs 17
Pyloric Stenosis 47
Radial ray hypoplasia 23
Radioulnar synostosis 35
Seizures 596
Self-Injurious Behavior 12
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Severe postnatal growth retardation 16
Short first metacarpals 11
Short neck 140
Short nose 132
Short stature 531
Short sternum 5
Simple syndactyly of toes, first web space 23
Single transverse palmar crease 29
Sleep disturbances 37
Small hand 36
Small head 374
Small labia majora 16
Small nose 132
Speech Delay 112
Speech Disorders 58
Speech impairment 112
Strabismus 270
Syndactyly of the toes 45
Synophrys 40
Thick, flared eyebrows 41
Thin lips 49
Thin upper lip vermilion 67
Thrombocytopenia 197
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Vesico-Ureteral Reflux 33
Weak cry 17
Wide skull shape 88
Widely spaced teeth 31
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.4
Kidney cancer 2613 0.0 0.9
Liver cancer 604 0.0 0.7

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma -1.300 3.3e-02
group 3 medulloblastoma 1.400 9.4e-04
intraductal papillary-mucinous carcinoma... 1.300 4.6e-03
intraductal papillary-mucinous neoplasm ... -1.300 1.7e-02
lung cancer -1.100 5.4e-03
malignant mesothelioma 1.300 1.2e-06
medulloblastoma, large-cell 1.500 4.6e-06
Multiple myeloma 1.272 3.0e-03
oligodendroglioma 1.100 2.5e-02
osteosarcoma 1.311 1.0e-03
ovarian cancer 2.300 3.6e-05
pancreatic cancer 1.100 4.6e-02
pancreatic carcinoma 1.100 4.6e-02
psoriasis -1.300 4.4e-09
Rheumatoid arthritis 2.800 8.4e-04

Protein-protein Interaction (1)

Gene RIF (46)

AA Sequence

MNGDMPHVPITTLAGIASLTDLLNQLPLPSPLPATTTKSLLFNARIAEEVNCLLACRDDNLVSQLVHSLN      1 - 70
QVSTDHIELKDNLGSDDPEGDIPVLLQAVLARSPNVFREKSMQNRYVQSGMMMSQYKLSQNSMHSSPASS     71 - 140
NYQQTTISHSPSSRFVPPQTSSGNRFMPQQNSPVPSPYAPQSPAGYMPYSHPSSYTTHPQMQQASVSSPI    141 - 210
VAGGLRNIHDNKVSGPLSGNSANHHADNPRHGSSEDYLHMVHRLSSDDGDSSTMRNAASFPLRSPQPVCS    211 - 280
PAGSEGTPKGSRPPLILQSQSLPCSSPRDVPPDILLDSPERKQKKQKKMKLGKDEKEQSEKAAMYDIISS    281 - 350
PSKDSTKLTLRLSRVRSSDMDQQEDMISGVENSNVSENDIPFNVQYPGQTSKTPITPQDINRPLNAAQCL    351 - 420
SQQEQTAFLPANQVPVLQQNTSVAAKQPQTSVVQNQQQISQQGPIYDEVELDALAEIERIERESAIERER    421 - 490
FSKEVQDKDKPLKKRKQDSYPQEAGGATGGNRPASQETGSTGNGSRPALMVSIDLHQAGRVDSQASITQD    491 - 560
SDSIKKPEEIKQCNDAPVSVLQEDIVGSLKSTPENHPETPKKKSDPELSKSEMKQSESRLAESKPNENRL    561 - 630
VETKSSENKLETKVETQTEELKQNESRTTECKQNESTIVEPKQNENRLSDTKPNDNKQNNGRSETTKSRP    631 - 700
ETPKQKGESRPETPKQKSDGHPETPKQKGDGRPETPKQKGESRPETPKQKNEGRPETPKHRHDNRRDSGK    701 - 770
PSTEKKPEVSKHKQDTKSDSPRLKSERAEALKQRPDGRSVSESLRRDHDNKQKSDDRGESERHRGDQSRV    771 - 840
RRPETLRSSSRNEHGIKSDSSKTDKLERKHRHESGDSRERPSSGEQKSRPDSPRVKQGDSNKSRSDKLGF    841 - 910
KSPTSKDDKRTEGNKSKVDTNKAHPDNKAEFPSYLLGGRSGALKNFVIPKIKRDKDGNVTQETKKMEMKG    911 - 980
EPKDKVEKIGLVEDLNKGAKPVVVLQKLSLDDVQKLIKDREDKSRSSLKPIKNKPSKSNKGSIDQSVLKE    981 - 1050
LPPELLAEIESTMPLCERVKMNKRKRSTVNEKPKYAEISSDEDNDSDEAFESSRKRHKKDDDKAWEYEER   1051 - 1120
DRRSSGDHRRSGHSHEGRRSSGGGRYRNRSPSDSDMEDYSPPPSLSEVARKMKKKEKQKKRKAYEPKLTP   1121 - 1190
EEMMDSSTFKRFTASIENILDNLEDMDFTAFGDDDEIPQELLLGKHQLNELGSESAKIKAMGIMDKLSTD   1191 - 1260
KTVKVLNILEKNIQDGSKLSTLLNHNNDTEEEERLWRDLIMERVTKSADACLTTINIMTSPNMPKAVYIE   1261 - 1330
DVIERVIQYTKFHLQNTLYPQYDPVYRLDPHGGGLLSSKAKRAKCSTHKQRVIVMLYNKVCDIVSSLSEL   1331 - 1400
LEIQLLTDTTILQVSSMGITPFFVENVSELQLCAIKLVTAVFSRYEKHRQLILEEIFTSLARLPTSKRSL   1401 - 1470
RNFRLNSSDMDGEPMYIQMVTALVLQLIQCVVHLPSSEKDSNAEEDSNKKIDQDVVITNSYETAMRTAQN   1471 - 1540
FLSIFLKKCGSKQGEEDYRPLFENFVQDLLSTVNKPEWPAAELLLSLLGRLLVHQFSNKSTEMALRVASL   1541 - 1610
DYLGTVAARLRKDAVTSKMDQGSIERILKQVSGGEDEIQQLQKALLDYLDENTETDPSLVFSRKFYIAQW   1611 - 1680
FRDTTLETEKAMKSQKDEESSEGTHHAKEIETTGQIMHRAENRKKFLRSIIKTTPSQFSTLKMNSDTVDY   1681 - 1750
DDACLIVRYLASMRPFAQSFDIYLTQILRVLGENAIAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRL   1751 - 1820
MDNSTSVREAAVELLGRFVLCRPQLAEQYYDMLIERILDTGISVRKRVIKILRDICIEQPTFPKITEMCV   1821 - 1890
KMIRRVNDEEGIKKLVNETFQKLWFTPTPHNDKEAMTRKILNITDVVAACRDTGYDWFEQLLQNLLKSEE   1891 - 1960
DSSYKPVKKACTQLVDNLVEHILKYEESLADSDNKGVNSGRLVACITTLFLFSKIRPQLMVKHAMTMQPY   1961 - 2030
LTTKCSTQNDFMVICNVAKILELVVPLMEHPSETFLATIEEDLMKLIIKYGMTVVQHCVSCLGAVVNKVT   2031 - 2100
QNFKFVWACFNRYYGAISKLKSQHQEDPNNTSLLTNKPALLRSLFTVGALCRHFDFDLEDFKGNSKVNIK   2101 - 2170
DKVLELLMYFTKHSDEEVQTKAIIGLGFAFIQHPSLMFEQEVKNLYNNILSDKNSSVNLKIQVLKNLQTY   2171 - 2240
LQEEDTRMQQADRDWKKVAKQEDLKEMGDVSSGMSSSIMQLYLKQVLEAFFHTQSSVRHFALNVIALTLN   2241 - 2310
QGLIHPVQCVPYLIAMGTDPEPAMRNKADQQLVEIDKKYAGFIHMKAVAGMKMSYQVQQAINTCLKDPVR   2311 - 2380
GFRQDESSSALCSHLYSMIRGNRQHRRAFLISLLNLFDDTAKTDVTMLLYIADNLACFPYQTQEEPLFIM   2381 - 2450
HHIDITLSVSGSNLLQSFKESMVKDKRKERKSSPSKENESSDSEEEVSRPRKSRKRVDSDSDSDSEDDIN   2451 - 2520
SVMKCLPENSAPLIEFANVSQGILLLLMLKQHLKNLCGFSDSKIQKYSPSESAKVYDKAINRKTGVHFHP   2521 - 2590
KQTLDFLRSDMANSKITEEVKRSIVKQYLDFKLLMEHLDPDEEEEEGEVSASTNARNKAITSLLGGGSPK   2591 - 2660
NNTAAETEDDESDGEDRGGGTSGSLRRSKRNSDSTELAAQMNESVDVMDVIAICCPKYKDRPQIARVVQK   2661 - 2730
TSSGFSVQWMAGSYSGSWTEAKRRDGRKLVPWVDTIKESDIIYKKIALTSANKLTNKVVQTLRSLYAAKD   2731 - 2800
GTSS                                                                     2801 - 2804
//

Text Mined References (83)

PMID Year Title