Property Summary

NCBI Gene PubMed Count 37
PubMed Score 172.29
PubTator Score 99.04

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (9)

Disease Target Count Z-score Confidence
Neuroacanthocytosis 6 0.0 0.0
Disease Target Count
Choreatic disease 52
lingual-facial-buccal dyskinesia 13
Dystonia 164
Abnormality of vision 40
Absent reflex 92
Absent tendon reflex 92
Acanthocytosis 7
Aggressive behavior 75
Aggressive reaction 75
Anxiety 136
Anxiety disease 113
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Bleeding tendency 37
Caudate atrophy 3
Cerebellar Ataxia 304
Cerebral atrophy 178
Chorea 29
Chorea Acanthocytosis Syndrome 2
Congenital pes cavus 88
Creatine phosphokinase serum increased 110
Death in early adulthood 24
Decreased tendon reflex 122
Deglutition Disorders 132
Developmental regression 95
Difficulty in tongue movements 2
Dilated ventricles (finding) 121
Distal upper limb muscle weakness 2
Drooling 27
Dysarthria 192
Dysgraphia 20
Dystonic disease 106
Electromyogram abnormal 49
Elevated creatine kinase 110
Epilepsy 792
Fatigue 182
Forgetful 40
Gait abnormality 135
Hypokinesia of the tongue 2
Loss of developmental milestones 95
Memory Loss 40
Memory impairment 40
Mental deterioration in childhood 95
Mood Disorders 184
Mood swings 77
Muscle fiber atrophy 3
Muscle hypotonia 571
Muscle weakness of limb 21
Myopathy 185
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Pallor 40
Parkinsonian Disorders 56
Peripheral Neuropathy 134
Personality change 23
Physical aggression 76
Progressive choreoathetosis 1
Progressive disorder 142
Progressive distal muscular atrophy 2
Protrusion of tongue 11
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychotic Disorders 151
Reflex, Deep Tendon, Absent 92
Seizures 596
Self-mutilation of tongue and lips due to involuntary movements 1
Sensory neuropathy 20
Sialorrhea 28
Skeletal muscle atrophy 139
Social disinhibition 14
Tremor 113
Urine color abnormal 6
muscle degeneration 139
recurrent muscle twitches (symptom) 1
Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 272 0.0 0.9
Disease Target Count Z-score Confidence
chorea-acanthocytosis 12 8.479 4.0
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0
Disease Target Count
Choreoacanthocytosis 1

Expression

  Differential Expression (18)

Disease log2 FC p
adult high grade glioma -1.100 2.3e-02
astrocytic glioma -1.500 6.1e-03
Astrocytoma, Pilocytic -1.100 2.7e-03
atypical teratoid / rhabdoid tumor -2.600 4.4e-09
Breast cancer -1.400 7.2e-13
ependymoma -1.500 6.6e-08
glioblastoma -1.200 2.8e-04
group 4 medulloblastoma -2.200 2.6e-04
intraductal papillary-mucinous adenoma (... 1.500 2.2e-03
intraductal papillary-mucinous carcinoma... 1.400 5.8e-03
intraductal papillary-mucinous neoplasm ... 1.700 1.4e-02
invasive ductal carcinoma -1.100 2.3e-03
medulloblastoma, large-cell -2.400 1.5e-06
oligodendroglioma -1.200 4.0e-02
osteosarcoma -1.193 1.0e-03
ovarian cancer -1.800 8.5e-07
primitive neuroectodermal tumor -2.300 5.6e-07
ulcerative colitis -1.100 1.1e-02

 OMIM Phenotype (1)

Gene RIF (20)

AA Sequence

MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVGHIGNLKLIIP      1 - 70
WKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEEAKQKVVDQEQHLPEKQDTFA     71 - 140
EKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQNLSMQTTDQYWVPCLHDETEKLVRKLIRLD    141 - 210
NLFAYWNVKSQMFYLSDYDNSLDDLKNGIVNENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLE    211 - 280
IELHNIAIEFNKPQYFSIMELLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMW    281 - 350
SWKHIRKHRQKVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG    351 - 420
VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPTLLKTFEALKF    421 - 490
FVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSFHITGLPDNSEKPRLLSSLDD    491 - 560
AMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNSIVEFFRPPKEVHLAQLTAATLTKLEEFRSK    561 - 630
TATGLLYIIETQKVLDLKINLKASYIIVPQDGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKE    631 - 700
IMDRAYDSFDIQLTSVQLLYSRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKL    701 - 770
PLISLRISDKKLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE    771 - 840
EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGDCELSVVEILV    841 - 910
LGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMEDLLTLEYVKAEKNVPDLKSTY    911 - 980
NNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEKSAPVSTTETEDKGDVIKKLALKLSTNEDII    981 - 1050
TLQILAELSCLQIFIQDQKCNISEIKIEGLDSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITGK   1051 - 1120
EVFSFKMVSYMDATAGSAYTDMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAKQALAEATVQAA   1121 - 1190
GMAATGVKELAQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITMTNTFHMITESQSSPPPVIDLI   1191 - 1260
TIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNLCWEWYQEVPCFNVNAQLKPMEFILSQEDITT   1261 - 1330
IFKTLHGNIWYEKDGSASPAVTKDQYSATSGVTTNASHHSGGATVVTAAVVEVHSRALLVKTTLNISFKT   1331 - 1400
DDLTMVLYSPGPKQASFTDVRDPSLKLAEFKLENIISTLKMYTDGSTFSSFSLKNCILDDKRPHVKKATP   1401 - 1470
RMIGLTVGFDKKDMMDIKYRKVRDGCVTDAVFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWTA   1471 - 1540
KEEVPTQESVKWEINVIIKNPEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAAIKDLQVRACPF   1541 - 1610
LPVKRKGKITTVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIINTMITITSALYTTKETIPEETA   1611 - 1680
SSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKGEMIKMNIDSIFIVLEAGIGHRTVPMLLAKSR   1681 - 1750
FSGEGKNWSSLINLHCQLELEVHYYNEMFGVWEPLLEPLEIDQTEDFRPWNLGIKMKKKAKMAIVESDPE   1751 - 1820
EENYKVPEYKTVISFHSKDQLNITLSKCGLVMLNNLVKAFTEAATGSSADFVKDLAPFMILNSLGLTISV   1821 - 1890
SPSDSFSVLNIPMAKSYVLKNGESLSMDYIRTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKVG   1891 - 1960
RRLYTVRHRESGVERSIVCQIDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTASPENEFNIPLGS   1961 - 2030
YRSFIFLKPEDENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLINIVPEKDNLTSLSVYSEDGWD   2031 - 2100
LPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGHSAQICTAQLGKARLHLKLLDYLNHDWKSEYH   2101 - 2170
IKPNQQDISFVSFTCVTEMEKTDLDIAVHMTYNTGQTVVAFHSPYWMVNKTGRMLQYKADGIHRKHPPNY   2171 - 2240
KKPVLFSFQPNHFFNNNKVQLMVTDSELSNQFSIDTVGSHGAVKCKGLKMDYQVGVTIDLSSFNITRIVT   2241 - 2310
FTPFYMIKNKSKYHISVAEEGNDKWLSLDLEQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCILL   2311 - 2380
RLDNELGGIIAEVNLAEHSTVITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSLPPGKAVFYTWA   2381 - 2450
DPVGSRRLKWRCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELA   2451 - 2520
EQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETKPKKKARWKPMSVKHTEKLEREFKEYTESSPS   2521 - 2590
EDKVIQLDTNVPVRLTPTGHNMKILQPHVIALRRNYLPALKVEYNTSAHQSSFRIQIYRIQIQNQIHGAV   2591 - 2660
FPFVFYPVKPPKSVTMDSAPKPFTDVSIVMRSAGHSQISRIKYFKVLIQEMDLRLDLGFIYALTDLMTEA   2661 - 2730
EVTENTEVELFHKDIEAFKEEYKTASLVDQSQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLIP   2731 - 2800
VHSLNLLLKSIGATLTDVQDVVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVLILGLDVLGNPF   2801 - 2870
GLIREFSEGVEAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITGAMAKGVAAMTMDED   2871 - 2940
YQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIVTKPIKGAQKGGAAGFFKGVGKGLVGAVARPT   2941 - 3010
GGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGTGNQMLQVMENGRFAKYKYFTHVM   3011 - 3080
INKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEPFIVHGRRLRIEAKERVKSVFHAREFGKIIN   3081 - 3150
FKTPEDARWILTKLQEAREPSPSL                                                 3151 - 3174
//

Text Mined References (40)

PMID Year Title