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 253
Abnormality of iron homeostasis 2
Abnormality of the immune system 18
Abnormality of the pancreas 2
Afro-textured hair 13
Anteverted nostril 191
Autosomal recessive predisposition 1442
Biopsy shows villous atrophy 16
Brittle hair 25
Bulging forehead 66
Cholestasis 155
Clastothrix 4
Cleft uvula 27
Congenital small ears 48
Curly hair (finding) 14
Depressed nasal ridge 51
Diarrhea, intractable 6
Downward slant of palpebral fissure 158
Duodenal villous atrophy 16
Exophthalmos 112
Failure to gain weight 365
Fetal Growth Retardation 189
Fibrosis, Liver 32
Fine hair 42
Fractured hair 25
Fragile hair 25
Frontal bossing 157
Galactosuria 4
Hepatic methionine adenosyltransferase deficiency 7
Hepatomegaly 285
Hypoalbuminemia 24
Icterus 82
Impaired cognition 96
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Kinky hair texture 13
Large placenta 2
Liver Cirrhosis 181
Liver Failure 73
Long philtrum 137
Low Birth Weights 69
Low set ears 181
Macrostomia 72
Mental impairment 95
Microstomia 78
Nappy hair texture 13
Orbital separation excessive 244
Pancreatic Diseases 8
Pediatric failure to thrive 365
Polyhydramnios 108
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Protruding eyes 96
Reduced tensile strength of hair 25
Renal cortical microcysts 4
Short stature 531
Small for gestational age (disorder) 69
Small intestine biopsy shows villous atrophy 16
Sparse hair 59
Thin, sparse hair 59
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Variable degree of villous atrophy 16
Villous atrophy 16
Villous atrophy of intestine 16
Wide nose 35
Wooly hair 17
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 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