AutismKB 2.0

Annotation Detail for SNRPD3


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Basic Information Top
Gene Symbol:SNRPD3 ( SMD3,Sm-D3 )
Gene Full Name: small nuclear ribonucleoprotein D3 polypeptide 18kDa
Band: 22q11.23
Quick LinksEntrez ID:6634; OMIM: 601062; Uniprot ID:SMD3_HUMAN; ENSEMBL ID: ENSG00000100028; HGNC ID: 11160
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03040Spliceosome
hsa05322Systemic lupus erythematosus
Pathway IDPathway Name
Post-Elongation Processing of the Transcript
Transcription
Metabolism of RNA
mRNA Processing
Gene Expression
No data
No data
Pathway IDPathway Name
500858snRNP Assembly
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006253 pirinixic acid pirinixic acid results in decreased expression of SNRPD3 mRNAdecreases expression 18445702
D011374 Progesterone Progesterone affects the expression of SNRPD3 mRNAaffects expression 17251523
D014810 Vitamin E Vitamin E results in increased expression of SNRPD3 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.6319483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 6.2017868700
MESH:D001930 Brain Injuries Progesterone 4.9115380490 15665606 15845082
MESH:D001943 Breast Neoplasms Progesterone 2.4116175315 15562024 17614352
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003929 Diabetic Neuropathies Progesterone 5.1517187935
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.3617692515
MESH:D004715 Endometriosis Progesterone 4.2116134523
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6418467677 16221962 19176532 19772884
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 5.0515869954
MESH:D007249 Inflammation Progesterone 2.7915869954
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007674 Kidney Diseases Vitamin E 3.0312488133
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4815474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4816169303
MESH:D008113 Liver Neoplasms pirinixic acid 1.9415890375 20007298 16377806
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 3.1211408345 17203775
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 2.1217405874
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D010051 Ovarian Neoplasms Progesterone 2.6317393432 16525653
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9718045962
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D013119 Spinal Cord Injuries Progesterone 5.0215862959 16503802
MESH:D020521 Stroke Vitamin E 3.8816517955
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:21257 Metabolism of RNA
REACT:1675 mRNA Processing
REACT:78 Post-Elongation Processing of the Transcript
KEGG:03040 Spliceosome
KEGG:05322 Systemic lupus erythematosus
REACT:1788 Transcription
Pharmacogenomics Knowledge Base Top
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  (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


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