Property Summary

NCBI Gene PubMed Count 166
PubMed Score 391.59
PubTator Score 284.39

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Anemia 365
Abnormal pigmentation 25
Abnormally small eyeball 97
Absence of radius and ulna 15
Absent radius 15
Acquired scoliosis 281
Almond-shaped eyes 23
Anemic pallor 4
Autosomal recessive predisposition 1442
Birthmark 35
Cafe-au-Lait Spots 37
Chromosomal breakage induced by crosslinking agents 5
Chromosome Breakage 36
Cognitive delay 608
Congenital Heart Defects 58
Congenital absence of kidney 31
Congenital deafness 185
Congenital heart disease 93
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased platelet count 111
Decreased size of eyeball 97
Deficient excision of UV-induced pyrimidine dimers in DNA 4
Digitalization of thumbs 6
Dull intelligence 645
Duplicated collecting system 7
Ecchymosis 66
Ectopic kidney 11
Esophageal atresia 43
Global developmental delay 608
Hearing Loss, Partial 185
Hematologic Neoplasms 22
Hemoglobin low 124
Horseshoe Kidney 16
Hypoplasia of thumb 26
Increased chromosomal breakage 27
Increased tendency to bruise 66
Intellectual disability 1016
Irregular hyperpigmentation 33
Leukemia 104
Leukopenia 72
Low Birth Weights 69
Low intelligence 645
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microphthalmos 100
Neutrophil count decreased 47
Pancytopenia 45
Poor school performance 645
Primary hypogonadism 37
Prolonged G2 phase of cell cycle 4
Pyridoxine-responsive sideroblastic anemia 17
Radial aplasia 15
Radial aplasia/hypoplasia 29
Reticulocytopenia 10
Short palpebral fissure 38
Short stature 531
Small for gestational age (disorder) 69
Small head 374
Strabismus 270
Thrombocytopenia 197
Thumb aplasia 16
Tracheoesophageal Fistula 36
hearing impairment 199
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.6

Expression

  Differential Expression (18)

 GO Function (1)

Gene RIF (136)

AA Sequence

MVSKRRLSKSEDKESLTEDASKTRKQPLSKKTKKSHIANEVEENDSIFVKLLKISGIILKTGESQNQLAV      1 - 70
DQIAFQKKLFQTLRRHPSYPKIIEEFVSGLESYIEDEDSFRNCLLSCERLQDEEASMGASYSKSLIKLLL     71 - 140
GIDILQPAIIKTLFEKLPEYFFENKNSDEINIPRLIVSQLKWLDRVVDGKDLTTKIMQLISIAPENLQHD    141 - 210
IITSLPEILGDSQHADVGKELSDLLIENTSLTVPILDVLSSLRLDPNFLLKVRQLVMDKLSSIRLEDLPV    211 - 280
IIKFILHSVTAMDTLEVISELREKLDLQHCVLPSRLQASQVKLKSKGRASSSGNQESSGQSCIILLFDVI    281 - 350
KSAIRYEKTISEAWIKAIENTASVSEHKVFDLVMLFIIYSTNTQTKKYIDRVLRNKIRSGCIQEQLLQST    351 - 420
FSVHYLVLKDMCSSILSLAQSLLHSLDQSIISFGSLLYKYAFKFFDTYCQQEVVGALVTHICSGNEAEVD    421 - 490
TALDVLLELVVLNPSAMMMNAVFVKGILDYLDNISPQQIRKLFYVLSTLAFSKQNEASSHIQDDMHLVIR    491 - 560
KQLSSTVFKYKLIGIIGAVTMAGIMAADRSESPSLTQERANLSDEQCTQVTSLLQLVHSCSEQSPQASAL    561 - 630
YYDEFANLIQHEKLDPKALEWVGHTICNDFQDAFVVDSCVVPEGDFPFPVKALYGLEEYDTQDGIAINLL    631 - 700
PLLFSQDFAKDGGPVTSQESGQKLVSPLCLAPYFRLLRLCVERQHNGNLEEIDGLLDCPIFLTDLEPGEK    701 - 770
LESMSAKERSFMCSLIFLTLNWFREIVNAFCQETSPEMKGKVLTRLKHIVELQIILEKYLAVTPDYVPPL    771 - 840
GNFDVETLDITPHTVTAISAKIRKKGKIERKQKTDGSKTSSSDTLSEEKNSECDPTPSHRGQLNKEFTGK    841 - 910
EEKTSLLLHNSHAFFRELDIEVFSILHCGLVTKFILDTEMHTEATEVVQLGPPELLFLLEDLSQKLESML    911 - 980
TPPIARRVPFLKNKGSRNIGFSHLQQRSAQEIVHCVFQLLTPMCNHLENIHNYFQCLAAENHGVVDGPGV    981 - 1050
KVQEYHIMSSCYQRLLQIFHGLFAWSGFSQPENQNLLYSALHVLSSRLKQGEHSQPLEELLSQSVHYLQN   1051 - 1120
FHQSIPSFQCALYLIRLLMVILEKSTASAQNKEKIASLARQFLCRVWPSGDKEKSNISNDQLHALLCIYL   1121 - 1190
EHTESILKAIEEIAGVGVPELINSPKDASSSTFPTLTRHTFVVFFRVMMAELEKTVKKIEPGTAADSQQI   1191 - 1260
HEEKLLYWNMAVRDFSILINLIKVFDSHPVLHVCLKYGRLFVEAFLKQCMPLLDFSFRKHREDVLSLLET   1261 - 1330
FQLDTRLLHHLCGHSKIHQDTRLTQHVPLLKKTLELLVCRVKAMLTLNNCREAFWLGNLKNRDLQGEEIK   1331 - 1400
SQNSQESTADESEDDMSSQASKSKATEDGEEDEVSAGEKEQDSDESYDDSD                      1401 - 1451
//

Text Mined References (178)

PMID Year Title