AutismKB 2.0

Annotation Detail for SRL


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Basic Information Top
Gene Symbol:SRL ( - )
Gene Full Name: sarcalumenin
Band: 16p13.3
Quick LinksEntrez ID:6345; OMIM: 604992; Uniprot ID:SRCA_HUMAN; ENSEMBL ID: ENSG00000185739; HGNC ID: 11295
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D002857 Chromium LEPR gene mutant form promotes the reaction [[Niacin binds to Chromium] which results in increased expression of SRL mRNA]affects binding|increases expression|increases reaction 16940432
D004317 Doxorubicin Doxorubicin results in increased expression of SRL proteinincreases expression 16144979
D009525 Niacin LEPR gene mutant form promotes the reaction [[Niacin binds to Chromium] which results in increased expression of SRL mRNA]affects binding|increases expression|increases reaction 16940432
C023036 perfluorooctanoic acid perfluorooctanoic acid results in increased expression of SRL mRNAincreases expression 17560707
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Doxorubicin 2.6417418594
MESH:D000419 Albuminuria Doxorubicin 5.0521441931
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.4214601052
MESH:D001932 Brain Neoplasms Doxorubicin 4.2017150277
MESH:D001943 Breast Neoplasms Chromium 2.7215986119
MESH:D001943 Breast Neoplasms Doxorubicin 2.7217426702 18628466 18382427 15668708 16595493 15136595 18234424 16115903 15634643 17369602 16826403 15939500 16322301 17983394 16264153 19526202 15993339 16096432 16935488 11325840 18695136 15994142 15567936 15692762
MESH:D002276 Carcinoid Tumor Doxorubicin 5.5316051944
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 2.2616234567 16023760 18059187 17876044
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 3.3116201981 1485588
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.726189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.7717308081 16455267 17519947 15505089 17329180 17382496 17007740 16269455 16364871 17974986 15476868 16651473 17131338 16109756 17928571 15792986 16278810 16612575 18627295 16952015 16731534 16242529 17924179 15811867 17351982
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0517334414 16243910
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1518259882 18802399
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 2.5217416283
MESH:D004362 Drug Toxicity Doxorubicin 3.9618602426
MESH:D004487 Edema perfluorooctanoic acid 4.0017259670 12083418
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.6917359293
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.8818037988
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.2219069698
MESH:D005909 Glioblastoma Doxorubicin 3.5917150277
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.7815692506
MESH:D006331 Heart Diseases Doxorubicin 3.7512587719 16707910 17888722 18674790 16879835 16144979 14766674 16244372 16330681 17875725 16244371 18006777 16495754
MESH:D006333 Heart Failure Doxorubicin 3.5617481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.3315692506
MESH:D006529 Hepatomegaly perfluorooctanoic acid 4.653609246
MESH:D006689 Hodgkin Disease Doxorubicin 3.7717606976 18501091 15147373
MESH:D006930 Hyperalgesia perfluorooctanoic acid 4.1712083418
MESH:D007249 Inflammation perfluorooctanoic acid 3.2312083418
MESH:D007674 Kidney Diseases Chromium 7.3717934191
MESH:D007674 Kidney Diseases Doxorubicin 7.3715699352 15369732 16775033
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.5816707910
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.8816085563
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.868812269
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.1616595196 16439617
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 3.0318709148 14757943
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 3.2417085340 16842330
MESH:D008175 Lung Neoplasms Doxorubicin 2.1517418594 6189445
MESH:D008223 Lymphoma Doxorubicin 3.7316098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.1317654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.1315621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2615458769
MESH:D008545 Melanoma Doxorubicin 2.3316827129
MESH:D008654 Mesothelioma Doxorubicin 3.1817638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.9315792986
MESH:D052016 Mucositis Doxorubicin 5.4217415656
MESH:D009203 Myocardial Infarction Doxorubicin 3.0815857846 19429709
MESH:D009362 Neoplasm Metastasis Doxorubicin 3.0818259882
MESH:D009401 Nephrosis Doxorubicin 5.3316899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.3715640375 16889571
MESH:D009447 Neuroblastoma Doxorubicin 3.4315555623
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.519802331
MESH:D012516 Osteosarcoma Doxorubicin 4.4415930896
MESH:D003557 Phyllodes Tumor Doxorubicin 5.8817983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.8817638057
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 5.0217132714
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.4916729912 15897917 16868541 18437689 15749863 16888761
MESH:D051437 Renal Insufficiency Doxorubicin 4.7817922066
MESH:D012509 Sarcoma Doxorubicin 4.3817203757 15625365 16767912 15675481 18313854 17710206
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.7516326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.4217846226
MESH:D012878 Skin Neoplasms Doxorubicin 3.1115692506
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.1317203757 15625365 16767912
MESH:D013964 Thyroid Neoplasms Doxorubicin 3.6717909728 16010429
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 2.8817653716
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.7817678736 17334414 17638931 16364871
No data
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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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