Property Summary

NCBI Gene PubMed Count 11
PubMed Score 188.31
PubTator Score 14.83

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Trichohepatoenteric Syndrome 2 0.0 0.0
Disease Target Count
Diarrhea 245
Abnormality of iron homeostasis 2
Abnormality of the immune system 18
Abnormality of the pancreas 2
Afro-textured hair 13
Anteverted nostril 186
Autosomal recessive predisposition 1407
Biopsy shows villous atrophy 15
Brittle hair 25
Bulging forehead 64
Cholestasis 154
Clastothrix 4
Cleft uvula 27
Congenital small ears 46
Curly hair (finding) 14
Depressed nasal ridge 48
Diarrhea, intractable 6
Downward slant of palpebral fissure 158
Duodenal villous atrophy 15
Exophthalmos 110
Failure to gain weight 359
Fetal Growth Retardation 186
Fibrosis, Liver 32
Fine hair 42
Fractured hair 25
Fragile hair 25
Frontal bossing 154
Galactosuria 4
Hepatic methionine adenosyltransferase deficiency 7
Hepatomegaly 280
Hypoalbuminemia 24
Icterus 81
Impaired cognition 95
Infant, Small for Gestational Age 174
Intrauterine retardation 174
Kinky hair texture 13
Large placenta 2
Liver Cirrhosis 173
Liver Failure 72
Long philtrum 137
Low Birth Weights 69
Low set ears 178
Macrostomia 70
Mental impairment 95
Microstomia 76
Nappy hair texture 13
Orbital separation excessive 240
Pancreatic Diseases 8
Pediatric failure to thrive 359
Polyhydramnios 106
Prominent eyes 95
Prominent forehead 64
Prominent globes 95
Protruding eyes 95
Reduced tensile strength of hair 25
Renal cortical microcysts 4
Short stature 514
Small for gestational age (disorder) 69
Small intestine biopsy shows villous atrophy 15
Sparse hair 59
Thin, sparse hair 59
Underdeveloped brows 37
Underdeveloped supraorbital ridges 37
Variable degree of villous atrophy 15
Villous atrophy 15
Villous atrophy of intestine 15
Wide nose 35
Wooly hair 17
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.1
Kidney cancer 2548 0.0 0.6
Disease Target Count Z-score Confidence
Bacterial conjunctivitis 10 3.264 1.6
Disease Target Count
Trichohepatoenteric syndrome 1 2

Expression

  Differential Expression (12)

Disease log2 FC p
acute quadriplegic myopathy 1.064 1.6e-03
adrenocortical carcinoma 1.054 2.2e-02
Amyotrophic lateral sclerosis 1.018 9.6e-06
astrocytic glioma 1.400 2.4e-02
ependymoma 1.300 5.9e-03
group 4 medulloblastoma 1.600 1.0e-03
interstitial lung disease -1.100 3.1e-02
medulloblastoma, large-cell 1.900 9.4e-04
oligodendroglioma 1.400 1.9e-02
osteosarcoma 2.861 7.6e-04
ovarian cancer -2.200 7.5e-12
psoriasis 1.300 9.0e-04

Synonym

Accession Q6PGP7 O15077 Q6PJI3 TPR repeat protein 37
Symbols Ski3
THES
KIAA0372

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

Gene RIF (5)

AA Sequence

MSSKEVKTALKSARDAIRNKEYKEALKHCKTVLKQEKNNYNAWVFIGVAAAELEQPDQAQSAYKKAAELE      1 - 70
PDQLLAWQGLANLYEKYNHINAKDDLPGVYQKLLDLYESVDKQKWCDVCKKLVDLYYQEKKHLEVARTWH     71 - 140
KLIKTRQEQGAENEELHQLWRKLTQFLAESTEDQNNETQQLLFTAFENALGLSDKIPSEDHQVLYRHFIQ    141 - 210
SLSKFPHESARLKKACEGMINIYPTVQYPLEVLCLHLIESGNLTDEGQQYCCRLVEMDSKSGPGLIGLGI    211 - 280
KALQDKKYEDAVRNLTEGLKESPVCTSGWYHLAEAQVKMHRPKEAVLSCSQALKIVDNLGASGNSLYQRN    281 - 350
LCLHLKAEALIKLSDYDSSEEAIRTLDQISDADNIPGLLVLKSLAYRNKGSFDEAAKIMEDLLSSYPDLA    351 - 420
EVHALEALIHFTKKDYLQAEKCFQRALEKDTEVAEYHYQLGLTYWFMGEETRKDKTKALTHFLKAARLDT    421 - 490
YMGKVFCYLGHYYRDVVGDKNRARGCYRKAFELDDTDAESGAAAVDLSVELEDMEMALAILTTVTQKASA    491 - 560
GTAKWAWLRRGLYYLKAGQHSQAVADLQAALRADPKDFNCWESLGEAYLSRGGYTTALKSFTKASELNPE    561 - 630
SIYSVFKVAAIQQILGKYKEAVAQYQMIIKKKEDYVPALKGLGECHLMMAKAALVDYLDGKAVDYIEKAL    631 - 700
EYFTCALQHRADVSCLWKLAGDACTCLYAVAPSKVNVHVLGVLLGQKEGKQVLKKNELLHLGGRCYGRAL    701 - 770
KLMSTSNTWCDLGINYYRQAQHLAETGSNMNDLKELLEKSLHCLKKAVRLDSNNHLYWNALGVVACYSGI    771 - 840
GNYALAQHCFIKSIQSEQINAVAWTNLGVLYLTNENIEQAHEAFKMAQSLDPSYLMCWIGQALIAEAVGS    841 - 910
YDTMDLFRHTTELNMHTEGALGYAYWVCTTLQDKSNRETELYQYNILQMNAIPAAQVILNKYVERIQNYA    911 - 980
PAFTMLGYLNEHLQLKKEAANAYQRAILLLQTAEDQDTYNVAIRNYGRLLCSTGEYDKAIQAFKSTPLEV    981 - 1050
LEDIIGFALALFMKGLYKESSKAYERALSIVESEQDKAHILTALAITEYKQGKTDVAKTLLFKCSILKEP   1051 - 1120
TTESLQALCALGLAMQDATLSKAALNELLKHIKHKDSNYQRCLLTSAIYALQGRSVAVQKQISKAVHSNP   1121 - 1190
GDPALWSLLSRVVAQYAQRNAKGGVVAGNVAHILDSNHGKKALLYTAVNQLAMGSSSAEDEKNTALKTIQ   1191 - 1260
KAALLSPGDPAIWAGLMAACHADDKLALVNNTQPKRIDLYLALLSAVSASIKDEKFFENYNQSLEKWSLS   1261 - 1330
QAVTGLIDTGRISEAETLCTKNLKSNPDQPAVILLLRQVQCKPLLESQKPLPDAVLEELQKTVMSNSTSV   1331 - 1400
PAWQWLAHVYQSQGMMRAAEMCYRKSLQLASQRGSWSGKLSSLLRLALLALKVCMANISNDHWPSLVQEA   1401 - 1470
TTEALKLCFCPLAVLLQALLQFKRKMGARETRRLLERVVYQPGYPKSIASTARWYLLRHLYAKDDYELID   1471 - 1540
VLVNNAKTHGDTRALELNQRLSSQ                                                 1541 - 1564
//

Text Mined References (13)

PMID Year Title