AutismKB 2.0

Annotation Detail for SAR1B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SAR1B ( ANDD,CMRD,GTBPB,SARA2 )
Gene Full Name: SAR1 homolog B (S. cerevisiae)
Band: 5q31.1
Quick LinksEntrez ID:51128; OMIM: 607690; Uniprot ID:SAR1B_HUMAN; ENSEMBL ID: ENSG00000152700; HGNC ID: 10535
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
Pathway IDPathway Name
Membrane Trafficking
No data
No data
Pathway IDPathway Name
500009COPII (Coat Protein 2) Mediated Vesicle Transport
500796Chylomicron-mediated lipid transport
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Chylomicron retention disease
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of SAR1B mRNAincreases expression 15336504
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SAR1B mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of SAR1B mRNAaffects cotreatment|affects expression 17602206
D007657 Ketone Bodies Ketone Bodies results in decreased expression of SAR1B mRNAdecreases expression 16807920
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SAR1B mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of SAR1B mRNAincreases expression 18301758
17426115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000236 Adenoma Diethylnitrosamine 3.0310737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 11.9618056438 19061943 17162532 17620307 16434500 19052882
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.9616434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1917474063
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.8716698587 19539802 16540662 20524982 19394651 17428255 18971187 18210153 3581430 20007298 17162532 20727157 20101231 19052882 20432363 17138121 18056438 16569478 16807293 3084413 18785209 19701751 19519916 16878318 16830150 16779866 10737359 20214788 16681979 16935385 20084675 18506893 10672840 20935162 19107877 19171122 17055752 16288022 19418558 20514400 18691550 16502159 19383236 17761372 18494052 17978847 20512989 19822196 19919837 16328049 19208518 18393292 18978308 11831363 19335982 21159647 18665156 18788625 17173139
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.097505956 17174075 2727394 21159647
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 4.0119052882
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:C535460 Chylomicron retention disease marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2520387270
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 2.1319107877
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.7316302075
MESH:D005234 Fatty Liver Diethylnitrosamine 8.9521071580 20387270
MESH:D005234 Fatty Liver pirinixic acid 8.9519236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 19176532 18467677 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007249 Inflammation Diethylnitrosamine 2.5318785209
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9918522880 18407596 20032147 18665156 19638242
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1617034775
MESH:D008113 Liver Neoplasms Clofibric Acid 8.1217602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 8.1215175105 18977376 19996281 19638242 10737359 18754104 20583210 21278145 21167192 16942905 15885732 12112319 20501860 18644402 20434301 19294768 2862719 19812893 19090486 9163691 18648771 19499222 21071580 19833225 20101389 19256749 20118626 20452335 20405173 19690152 20492335 20137499 19255062 19427195 21047994 19426721 2422723 19073162 19254457 12771043 19850985 18978307 19551842 19642983
MESH:D008113 Liver Neoplasms pirinixic acid 8.1220007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 2.8317942915 19539802 3124819 18775883 16842330 19009564 21159647 16267830 17174075 19126423 18093689 18544905 9362446 18079962 18282651 18253720 19004024 18164116 17854601 2563599 19519916 18308698
MESH:D008175 Lung Neoplasms Diethylnitrosamine 1.7621163286 6695378 20970405 20512841
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.683581430 9029167
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6520387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.7320387270
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5216540662
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.882563599
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.838532709
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.257505956
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
REACT:17015 Metabolism of proteins
KEGG:04141 Protein processing in endoplasmic reticulum
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB04315 - Guanosine-5'-Diphosphate
No data
No data
No data

Simple Query:


  (e.g. CHD8)

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