Property Summary

NCBI Gene PubMed Count 45
PubMed Score 26.03
PubTator Score 29.45

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Warburg Sjo Fledelius syndrome 4 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormal dermatoglyphic pattern 24
Abnormal visual evoked potential 26
Abnormality of nail of toe 11
Abnormality of position of teeth 8
Abnormality of retinal pigmentation 111
Abnormality of the distal phalanx of finger 3
Abnormally small eyeball 97
Acquired scoliosis 281
Agenesis of corpus callosum 83
Agyria 15
Anteverted nostril 191
Autosomal recessive predisposition 1442
Blepharoptosis 231
Blindness, Cortical 24
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cataract 297
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Clitoral hypoplasia 11
Cognitive delay 608
Concave bridge of nose 195
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congenital hypoplasia of penis 176
Corneal diameter decreased 47
Cortical visual impairment 24
Cryptorchidism 296
Curvature of spine 282
Decreased projection of midface 105
Decreased size of eyeball 97
Degenerative brain disorder 100
Delayed Puberty 97
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dull intelligence 645
Enophthalmos 75
Everted lower lip vermilion 54
Facial Hypertrichosis 2
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fissured tongue 25
Generalized hirsutism 36
Global developmental delay 608
Hyperkyphosis 111
Hyperreflexia 209
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplasia of corpus callosum 90
Hypoplasia or absence of the corpus callosum 23
Hypoplastic labia minora 10
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Lissencephaly 69
Little's Disease 14
Lordosis 54
Low intelligence 645
Low posterior hairline 52
Low-set, posteriorly rotated ears 110
Macrotia 87
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Microcornea 47
Micrognathism 275
Microphthalmos 100
Midface retrusion 105
Misalignment of teeth 8
Muscle Spasticity 195
Muscle hypotonia 571
Nasal bridge wide 236
Optic Atrophy 242
Orbital separation diminished 23
Osteoporosis 363
Pachygyria 41
Pediatric failure to thrive 365
Poor school performance 645
Precociously senile appearance 18
Protruding lower lip 54
Retinal pigment epithelial abnormality 111
Severe mental retardation (I.Q. 20-34) 99
Short nose 132
Short philtrum 53
Short stature 531
Small genitalia 13
Small head 374
Small midface 105
Small nose 132
Sunken eyes 63
Supratentorial atrophy 94
Ulnar deviation of the fingers 21
Wide skull shape 88
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count Z-score Confidence
Paget's disease of bone 36 0.0 0.8
Disease Target Count Z-score Confidence
Keratoconus 113 4.028 2.0

Expression

  Differential Expression (4)

Disease log2 FC p
Gaucher disease type 1 -2.200 2.1e-02
ovarian cancer -1.400 6.3e-07
pancreatic ductal adenocarcinoma liver m... 1.512 2.4e-03
tuberculosis -1.500 2.2e-05

Synonym

Accession Q15042 A6H8Z3 C9J837 Q659F5 Q8TBB4
Symbols P130
WARBM1
RAB3GAP
RAB3GAP130

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG

 MGI Phenotype (1)

Protein-protein Interaction (1)

Gene RIF (19)

AA Sequence

MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEKGIFTSGTWEEKSDEISFADF      1 - 70
KFSVTHHYLVQESTDKEGKDELLEDVVPQSMQDLLGMNNDFPPRAHCLVRWYGLREFVVIAPAAHSDAVL     71 - 140
SESKCNLLLSSVSIALGNTGCQVPLFVQIHHKWRRMYVGECQGPGVRTDFEMVHLRKVPNQYTHLSGLLD    141 - 210
IFKSKIGCPLTPLPPVSIAIRFTYVLQDWQQYFWPQQPPDIDALVGGEVGGLEFGKLPFGACEDPISELH    211 - 280
LATTWPHLTEGIIVDNDVYSDLDPIQAPHWSVRVRKAENPQCLLGDFVTEFFKICRRKESTDEILGRSAF    281 - 350
EEEGKETADITHALSKLTEPASVPIHKLSVSNMVHTAKKKIRKHRGVEESPLNNDVLNTILLFLFPDAVS    351 - 420
EKPLDGTTSTDNNNPPSESEDYNLYNQFKSAPSDSLTYKLALCLCMINFYHGGLKGVAHLWQEFVLEMRF    421 - 490
RWENNFLIPGLASGPPDLRCCLLHQKLQMLNCCIERKKARDEGKKTSASDVTNIYPGDAGKAGDQLVPDN    491 - 560
LKETDKEKGEVGKSWDSWSDSEEEFFECLSDTEELKGNGQESGKKGGPKEMANLRPEGRLYQHGKLTLLH    561 - 630
NGEPLYIPVTQEPAPMTEDLLEEQSEVLAKLGTSAEGAHLRARMQSACLLSDMESFKAANPGCSLEDFVR    631 - 700
WYSPRDYIEEEVIDEKGNVVLKGELSARMKIPSNMWVEAWETAKPIPARRQRRLFDDTREAEKVLHYLAI    701 - 770
QKPADLARHLLPCVIHAAVLKVKEEESLENISSVKKIIKQIISHSSKVLHFPNPEDKKLEEIIHQITNVE    771 - 840
ALIARARSLKAKFGTEKCEQEEEKEDLERFVSCLLEQPEVLVTGAGRGHAGRIIHKLFVNAQRAAAMTPP    841 - 910
EEELKRMGSPEERRQNSVSDFPPPAGREFILRTTVPRPAPYSKALPQRMYSVLTKEDFRLAGAFSSDTSF    911 - 980
F//

Text Mined References (52)

PMID Year Title