AutismKB 2.0

Annotation Detail for PRSS12


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Basic Information Top
Gene Symbol:PRSS12 ( BSSP-3,BSSP3,MGC12722,MRT1 )
Gene Full Name: protease, serine, 12 (neurotrypsin, motopsin)
Band: 4q26
Quick LinksEntrez ID:8492; OMIM: 606709; Uniprot ID:NETR_HUMAN; ENSEMBL ID: ENSG00000164099; HGNC ID: 9477
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Mental retardation, autosomal recessive 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PRSS12 mRNAaffects expression 16483693
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PRSS12 mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of PRSS12 mRNAaffects cotreatment|decreases expression 20360939
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PRSS12 mRNAaffects expression 17555576
D010672 Phenytoin Phenytoin results in increased expression of PRSS12 mRNAincreases expression 14741686
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 5.029118846 9677735 3425630 8986270 6195326 10563481
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma Diethylnitrosamine 3.0310737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.4418056438 17620307 17162532 19061943 19052882 16434500
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D050197 Atherosclerosis Phenytoin 4.1115136057
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.873084413 19701751 19052882 18056438 16698587 11831363 17162532 18691550 18494052 16681979 16502159 10737359 16569478 19822196 19383236 17173139 20514400 19394651 16540662 19335982 19919837 3581430 20512989 18665156 16878318 20084675 18978308 20524982 19171122 21159647 16328049 20432363 18788625 19519916 18393292 17138121 20727157 18785209 20101231 19418558 16935385 18971187 17761372 16779866 18210153 17978847 16830150 20935162 10672840 16807293 19107877 17428255 19208518 20007298 20214788 16288022 17055752 18506893 19539802
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.092727394 17174075 7505956 21159647
MESH:D002493 Central Nervous System Diseases Phenytoin 5.784080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.0119052882
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1316105132 11677210 17681005 17333356 16919318 17110522 15861022
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 6.4111748493
MESH:D002971 Cleft Lip Phenytoin 4.312227380
MESH:D002972 Cleft Palate Phenytoin 3.8610789828 2227380 1687470 3877104 6856622 6862529
MESH:D003103 Coloboma Phenytoin 5.539212184
MESH:D000013 Congenital Abnormalities Phenytoin 5.0210627286
MESH:D019465 Craniofacial Abnormalities Phenytoin 2.918986270 9212184 19952982
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
OMIM:607208 DRAVET SYNDROME Phenytoin 5.8711748493
MESH:D003875 Drug Eruptions Phenytoin 5.9815024534
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.1319107877
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.8712538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 10.8717654737
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 5.6420235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.856251365 1399206
MESH:D004828 Epilepsies, Partial Phenytoin 5.5311558140 17116037
MESH:D004827 Epilepsy Phenytoin 4.09821787 11434505 20417680
MESH:D017029 Epilepsy, Complex Partial Phenytoin 5.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 5.603659116
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.7316302075
MESH:D005234 Fatty Liver Diethylnitrosamine 8.9620387270 21071580
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.9615345470
MESH:D005313 Fetal Death Phenytoin 5.5810627286
MESH:D005885 Gingival Hyperplasia Phenytoin 6.219029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.8514659971 16390469
MESH:D020138 Hyperhomocysteinemia Phenytoin 4.9910459572
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Diethylnitrosamine 2.5318785209
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.9310783313
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 3.7315369732
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.2116766008
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9920032147 19638242 18407596 18665156 18522880
MESH:D008107 Liver Diseases Diethylnitrosamine 4.7317034775
MESH:D008107 Liver Diseases Phenytoin 4.7314986274
MESH:D008113 Liver Neoplasms Diethylnitrosamine 2.3419690152 19638242 19996281 20137499 18754104 2422723 19812893 10737359 15175105 20492335 19254457 21278145 15885732 12771043 20434301 20405173 20101389 19426721 19294768 19090486 20452335 16942905 19255062 19427195 18648771 19073162 18977376 21047994 18644402 18978307 20583210 20118626 19850985 21167192 19499222 21071580 19642983 19256749 19833225 20501860 19551842 9163691 12112319 2862719
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8319009564 16842330 19539802 19004024 21159647 17942915 18282651 19126423 17854601 19519916 16267830 18308698 18079962 18164116 18775883 18253720 18544905 17174075 3124819 2563599 18093689 9362446
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7621163286 20970405 6695378 20512841
MESH:D008607 Mental Retardation Phenytoin 3.769212184
OMIM:249500 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 marker/mechanism
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 6.0617484760
MESH:D009224 Myotonia Congenita Phenytoin 5.951896199
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.689029167 3581430
MESH:D009436 Neural Tube Defects Phenytoin 4.349118846
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6520387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.7320387270
MESH:D010018 Osteomalacia Phenytoin 5.9517016548
MESH:D010146 Pain Phenytoin 4.2815215642
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5216540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D017689 Polydactyly Phenytoin 5.379212184
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.882563599
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D019310 Pseudolymphoma Phenytoin 6.151419762 12752131 8603615
MESH:D012640 Seizures Phenytoin 3.963691417 3137016 9844417 11044598 19919933 16876388 15946322 10029267
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 5.6420235791
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.257505956
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9114671159 15869587
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33830
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    PA161615744Mental Retardation, Autosomal Recessive
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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