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 998
Abnormal behavior 51
Abnormal umbilicus 2
Abnormally low-pitched voice 6
Absent auditory canals 23
Absent external auditory canals 23
Absent finger 4
Accessory rib 9
Anteverted nostril 186
Anxiety 135
Anxiety disease 112
Astigmatism 54
Atresia of the external auditory canal 23
Atretic auditory canal 23
Attention deficit hyperactivity disorder 272
Bilateral fifth finger clinodactyly 109
Bilateral single transverse palmar creases 34
Blepharitis 21
Blepharoptosis 229
Bowed and upward slanting eyebrows 39
Brachycephaly 86
Broad cranium shape 86
Bushy eyebrows 48
Byzanthine arch palate 194
Cellulitis of eyelid 15
Choanal Atresia 42
Cleft Lip 141
Cleft Palate 265
Coloboma of optic disc 9
Concave bridge of nose 191
Conductive hearing loss 122
Congenital Heart Defects 57
Congenital diaphragmatic hernia 66
Congenital dislocation of radial head 14
Congenital hypoplasia of penis 168
Congenital hypoplasia of radius 23
Corneal diameter decreased 46
Cryptorchidism 287
Curly eyelashes 6
Curvature of little finger 109
Cutis marmorata 31
Decreased platelet count 110
Delayed bone age 132
Delayed speech and language development 110
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Downturned corners of mouth 47
Dull intelligence 634
Duplication of internal organs 2
Ectopic kidney 11
Epilepsy 775
Exophthalmos 110
Failure to gain weight 359
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Flexion contracture - elbow 30
Gastroesophageal reflux disease 108
Generalized hirsutism 33
Hearing problem 3
Heartburn 76
Hernia, Inguinal 88
Hiatal Hernia 7
High, narrow palate 32
Highly variable clinical phenotype 147
Highly variable phenotype and severity 147
Highly variable phenotype, even within families 147
Hirsutism 46
Hypoplasia of nipple 16
Hypoplastic feet 66
Hypoplastic male genitalia 7
Hypoplastic mandible condyle 273
Hypoplastic radial head 2
Hypoplastic sternum 5
Infant, Small for Gestational Age 174
Intrauterine retardation 174
Isolated cases 70
Joint stiffness 80
Language Delay 110
Late tooth eruption 59
Limited elbow extension 18
Long eyelashes 36
Long philtrum 137
Loss of definition of corticomedullary differentiation 2
Low anterior hairline 30
Low intelligence 634
Low posterior hairline 52
Low set ears 178
Low-set, posteriorly rotated ears 109
Malrotation of colon 2
Mandibular hypoplasia 273
Mental Retardation 634
Mental deficiency 634
Microcornea 46
Micrognathism 273
Micromelia 58
Multicystic Dysplastic Kidney 51
Muscle Hypertonia 88
Myopia 175
Nystagmus 309
Obsessive compulsive behavior 25
Optic Atrophy 239
Pediatric failure to thrive 359
Penile hypospadias 102
Phenotypic variability 147
Phocomelia 2
Phthisis bulbi 5
Pneumonia 169
Poor school performance 634
Premature Birth 76
Premature birth of newborn 67
Prominent eyes 95
Prominent globes 95
Protruding eyes 95
Proximally placed thumbs 16
Pyloric Stenosis 47
Radial ray hypoplasia 23
Radioulnar synostosis 35
Seizures 584
Self-Injurious Behavior 12
Sensorineural Hearing Loss (disorder) 281
Severe mental retardation (I.Q. 20-34) 97
Severe postnatal growth retardation 16
Short first metacarpals 11
Short neck 139
Short nose 127
Short stature 514
Short sternum 5
Simple syndactyly of toes, first web space 22
Single transverse palmar crease 29
Sleep disturbances 37
Small hand 36
Small head 366
Small labia majora 16
Small nose 127
Speech Delay 110
Speech Disorders 56
Speech impairment 110
Strabismus 265
Syndactyly of the toes 45
Synophrys 39
Thick, flared eyebrows 39
Thin lips 49
Thin upper lip vermilion 67
Thrombocytopenia 193
Uranostaphyloschisis 162
Ventricular Septal Defects 113
Vesico-Ureteral Reflux 30
Weak cry 17
Wide skull shape 86
Widely spaced teeth 31
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.4
Kidney cancer 2548 0.0 0.9
Liver cancer 589 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