Property Summary

Ligand Count 9
NCBI Gene PubMed Count 1,030
PubMed Score 3681.59
PubTator Score 1885.93

Knowledge Summary

Patent (143,944)

TINX Plot

  Disease (9)

Disease Target Count
Cerebellar Ataxia 304
Abnormal sperm development 1
Abnormal spermatogenesis 1
Abnormality of bone marrow cell morphology 4
Adenoid Cystic Carcinoma 99
Alpha 1 foetoprotein abnormal 2
Alpha 1 foetoprotein increased 2
Anorexia 43
Aplasia/Hypoplasia of the thymus 4
Ataxia-Telangiectasia Variant 1
Autosomal recessive predisposition 1442
B-Cell Lymphomas 12
Birthmark 35
Bladder Neoplasm 112
Bone Marrow Diseases 7
Bronchiectasis 64
Cafe-au-Lait Spots 37
Cellular immunodeficiency 17
Choreoathetoid movements 32
Choreoathetosis 32
Chromosome Breakage 36
Congenital hypoplasia of thymus 15
Conjunctival telangiectasis 14
Decreased antibody level in blood 35
Decreased number of CD4+ T cells 4
Decreased to absent deep tendon reflexes 42
Defective B cell differentiation 1
Delayed Puberty 97
Dysarthria 192
Dystonia 164
Dystonic disease 106
Elevated hepatic transaminases 81
Epilepsy 792
Fatigue 182
Female hypogonadism syndrome 25
Fever 138
Gait abnormality 135
Hair hypopigmentation 12
Hair shaft abnormalities 30
Hematologic Neoplasms 22
Hepatic enzyme increased 81
Hodgkin Disease 15
Hypogammaglobulinemia 35
Immunoglobulin A deficiency (disorder) 19
Immunoglobulin IgG2 deficiency 3
Impaired glucose tolerance 28
Increased chromosomal breakage 27
Leukemia 104
Liver Dysfunction 99
Liver carcinoma 240
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Lymphadenopathy 62
Lymphoma, Non-Hodgkin 24
Lymphopenia 67
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 12
Mammary Neoplasms 425
Mucosal telangiectasiae 14
Muscle Spasticity 195
Myoclonus 74
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Pancreatic Neoplasm 85
Paranasal Sinus Diseases 34
Polycystic ovary syndrome 360
Premature canities 24
Recurrent bronchitis 23
Recurrent respiratory infections 141
Schizophrenia 1160
Sclerocystic Ovaries 17
Seizures 596
Short stature 531
Sinusitis 65
Skeletal muscle atrophy 139
Small thymus 13
Splenomegaly 190
Squamous cell carcinoma 129
Strabismus 270
Subclinical abnormal liver function tests 81
Telangiectasia of the skin 39
Thymic hypoplasia or aplasia 4
Transaminases increased 81
Tremor 113
Weight decreased 103
diabetes mellitus 1728
hair abnormalities (non-specific) 30
muscle degeneration 139
Disease Target Count Z-score Confidence
Melanoma 711 0.0 3.0
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 1.0
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (16)

Disease log2 FC p
diabetes mellitus -1.100 3.7e-03
acute quadriplegic myopathy 1.030 9.4e-09
astrocytic glioma 1.500 1.4e-02
atypical teratoid / rhabdoid tumor 1.300 3.2e-05
ependymoma 1.300 1.5e-02
group 3 medulloblastoma 1.500 3.5e-03
malignant mesothelioma 2.000 7.8e-07
medulloblastoma, large-cell 1.700 2.2e-05
Multiple Sclerosis -1.400 1.6e-05
non primary Sjogren syndrome sicca -1.200 1.9e-02
oligodendroglioma 1.200 2.8e-02
osteosarcoma 3.715 1.8e-06
ovarian cancer -1.800 1.3e-07
Pick disease 1.200 4.9e-05
progressive supranuclear palsy -1.300 9.1e-03
ulcerative colitis 1.400 1.1e-04

Protein-protein Interaction (1)

Gene RIF (948)

AA Sequence

MSLVLNDLLICCRQLEHDRATERKKEVEKFKRLIRDPETIKHLDRHSDSKQGKYLNWDAVFRFLQKYIQK      1 - 70
ETECLRIAKPNVSASTQASRQKKMQEISSLVKYFIKCANRRAPRLKCQELLNYIMDTVKDSSNGAIYGAD     71 - 140
CSNILLKDILSVRKYWCEISQQQWLELFSVYFRLYLKPSQDVHRVLVARIIHAVTKGCCSQTDGLNSKFL    141 - 210
DFFSKAIQCARQEKSSSGLNHILAALTIFLKTLAVNFRIRVCELGDEILPTLLYIWTQHRLNDSLKEVII    211 - 280
ELFQLQIYIHHPKGAKTQEKGAYESTKWRSILYNLYDLLVNEISHIGSRGKYSSGFRNIAVKENLIELMA    281 - 350
DICHQVFNEDTRSLEISQSYTTTQRESSDYSVPCKRKKIELGWEVIKDHLQKSQNDFDLVPWLQIATQLI    351 - 420
SKYPASLPNCELSPLLMILSQLLPQQRHGERTPYVLRCLTEVALCQDKRSNLESSQKSDLLKLWNKIWCI    421 - 490
TFRGISSEQIQAENFGLLGAIIQGSLVEVDREFWKLFTGSACRPSCPAVCCLTLALTTSIVPGTVKMGIE    491 - 560
QNMCEVNRSFSLKESIMKWLLFYQLEGDLENSTEVPPILHSNFPHLVLEKILVSLTMKNCKAAMNFFQSV    561 - 630
PECEHHQKDKEELSFSEVEELFLQTTFDKMDFLTIVRECGIEKHQSSIGFSVHQNLKESLDRCLLGLSEQ    631 - 700
LLNNYSSEITNSETLVRCSRLLVGVLGCYCYMGVIAEEEAYKSELFQKAKSLMQCAGESITLFKNKTNEE    701 - 770
FRIGSLRNMMQLCTRCLSNCTKKSPNKIASGFFLRLLTSKLMNDIADICKSLASFIKKPFDRGEVESMED    771 - 840
DTNGNLMEVEDQSSMNLFNDYPDSSVSDANEPGESQSTIGAINPLAEEYLSKQDLLFLDMLKFLCLCVTT    841 - 910
AQTNTVSFRAADIRRKLLMLIDSSTLEPTKSLHLHMYLMLLKELPGEEYPLPMEDVLELLKPLSNVCSLY    911 - 980
RRDQDVCKTILNHVLHVVKNLGQSNMDSENTRDAQGQFLTVIGAFWHLTKERKYIFSVRMALVNCLKTLL    981 - 1050
EADPYSKWAILNVMGKDFPVNEVFTQFLADNHHQVRMLAAESINRLFQDTKGDSSRLLKALPLKLQQTAF   1051 - 1120
ENAYLKAQEGMREMSHSAENPETLDEIYNRKSVLLTLIAVVLSCSPICEKQALFALCKSVKENGLEPHLV   1121 - 1190
KKVLEKVSETFGYRRLEDFMASHLDYLVLEWLNLQDTEYNLSSFPFILLNYTNIEDFYRSCYKVLIPHLV   1191 - 1260
IRSHFDEVKSIANQIQEDWKSLLTDCFPKILVNILPYFAYEGTRDSGMAQQRETATKVYDMLKSENLLGK   1261 - 1330
QIDHLFISNLPEIVVELLMTLHEPANSSASQSTDLCDFSGDLDPAPNPPHFPSHVIKATFAYISNCHKTK   1331 - 1400
LKSILEILSKSPDSYQKILLAICEQAAETNNVYKKHRILKIYHLFVSLLLKDIKSGLGGAWAFVLRDVIY   1401 - 1470
TLIHYINQRPSCIMDVSLRSFSLCCDLLSQVCQTAVTYCKDALENHLHVIVGTLIPLVYEQVEVQKQVLD   1471 - 1540
LLKYLVIDNKDNENLYITIKLLDPFPDHVVFKDLRITQQKIKYSRGPFSLLEEINHFLSVSVYDALPLTR   1541 - 1610
LEGLKDLRRQLELHKDQMVDIMRASQDNPQDGIMVKLVVNLLQLSKMAINHTGEKEVLEAVGSCLGEVGP   1611 - 1680
IDFSTIAIQHSKDASYTKALKLFEDKELQWTFIMLTYLNNTLVEDCVKVRSAAVTCLKNILATKTGHSFW   1681 - 1750
EIYKMTTDPMLAYLQPFRTSRKKFLEVPRFDKENPFEGLDDINLWIPLSENHDIWIKTLTCAFLDSGGTK   1751 - 1820
CEILQLLKPMCEVKTDFCQTVLPYLIHDILLQDTNESWRNLLSTHVQGFFTSCLRHFSQTSRSTTPANLD   1821 - 1890
SESEHFFRCCLDKKSQRTMLAVVDYMRRQKRPSSGTIFNDAFWLDLNYLEVAKVAQSCAAHFTALLYAEI   1891 - 1960
YADKKSMDDQEKRSLAFEEGSQSTTISSLSEKSKEETGISLQDLLLEIYRSIGEPDSLYGCGGGKMLQPI   1961 - 2030
TRLRTYEHEAMWGKALVTYDLETAIPSSTRQAGIIQALQNLGLCHILSVYLKGLDYENKDWCPELEELHY   2031 - 2100
QAAWRNMQWDHCTSVSKEVEGTSYHESLYNALQSLRDREFSTFYESLKYARVKEVEEMCKRSLESVYSLY   2101 - 2170
PTLSRLQAIGELESIGELFSRSVTHRQLSEVYIKWQKHSQLLKDSDFSFQEPIMALRTVILEILMEKEMD   2171 - 2240
NSQRECIKDILTKHLVELSILARTFKNTQLPERAIFQIKQYNSVSCGVSEWQLEEAQVFWAKKEQSLALS   2241 - 2310
ILKQMIKKLDASCAANNPSLKLTYTECLRVCGNWLAETCLENPAVIMQTYLEKAVEVAGNYDGESSDELR   2311 - 2380
NGKMKAFLSLARFSDTQYQRIENYMKSSEFENKQALLKRAKEEVGLLREHKIQTNRYTVKVQRELELDEL   2381 - 2450
ALRALKEDRKRFLCKAVENYINCLLSGEEHDMWVFRLCSLWLENSGVSEVNGMMKRDGMKIPTYKFLPLM   2451 - 2520
YQLAARMGTKMMGGLGFHEVLNNLISRISMDHPHHTLFIILALANANRDEFLTKPEVARRSRITKNVPKQ   2521 - 2590
SSQLDEDRTEAANRIICTIRSRRPQMVRSVEALCDAYIILANLDATQWKTQRKGINIPADQPITKLKNLE   2591 - 2660
DVVVPTMEIKVDHTGEYGNLVTIQSFKAEFRLAGGVNLPKIIDCVGSDGKERRQLVKGRDDLRQDAVMQQ   2661 - 2730
VFQMCNTLLQRNTETRKRKLTICTYKVVPLSQRSGVLEWCTGTVPIGEFLVNNEDGAHKRYRPNDFSAFQ   2731 - 2800
CQKKMMEVQKKSFEEKYEVFMDVCQNFQPVFRYFCMEKFLDPAIWFEKRLAYTRSVATSSIVGYILGLGD   2801 - 2870
RHVQNILINEQSAELVHIDLGVAFEQGKILPTPETVPFRLTRDIVDGMGITGVEGVFRRCCEKTMEVMRN   2871 - 2940
SQETLLTIVEVLLYDPLFDWTMNPLKALYLQQRPEDETELHPTLNADDQECKRNLSDIDQSFNKVAERVL   2941 - 3010
MRLQEKLKGVEEGTVLSVGGQVNLLIQQAIDPKNLSRLFPGWKAWV                           3011 - 3056
//

Text Mined References (1043)

PMID Year Title