AutismKB 2.0

Annotation Detail for CLTCL1


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Basic Information Top
Gene Symbol:CLTCL1 ( CHC22,CLH22,CLTCL,CLTD,FLJ36032 )
Gene Full Name: clathrin, heavy chain-like 1
Band: 22q11.21
Quick LinksEntrez ID:8218; OMIM: 601273; Uniprot ID:CLH2_HUMAN; ENSEMBL ID: ENSG00000070371,ENSG00000249108; HGNC ID: 2093
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
hsa04144Endocytosis
hsa05016Huntington's disease
hsa05100Bacterial invasion of epithelial cells
Pathway IDPathway Name
Membrane Trafficking
No data
Pathway IDPathway Name
P00026Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway
P00027Heterotrimeric G-protein signaling pathway-Gq alpha and Go alpha mediated pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of CLTCL1 mRNAincreases expression 19774075
D002330 Carmustine Carmustine results in increased expression of CLTCL1 mRNAincreases expression 15980968
D016572 Cyclosporine Cyclosporine results in decreased expression of CLTCL1 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.2518057881 20041841 18218290
MESH:D001281 Atrial Fibrillation Amiodarone 4.2319698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.3819483382
MESH:D001932 Brain Neoplasms Carmustine 4.8316187019
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0119225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.8318974383
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4815265979 18218290
MESH:D005234 Fatty Liver Amiodarone 9.4914986274
MESH:D005234 Fatty Liver Cyclosporine 9.4919224547
MESH:D005355 Fibrosis Cyclosporine 3.7912168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D005909 Glioblastoma Carmustine 4.1916187019
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006529 Hepatomegaly Amiodarone 4.4015265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.369751232 8137927
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007037 Hypothyroidism Amiodarone 5.1718020914 17991464
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.568314463 10903974 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008064 Lipidoses Amiodarone 3.8215342952 17567588
MESH:D008133 Long QT Syndrome Amiodarone 3.9215350150 17391786 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6512587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.3418516814
MESH:D008545 Melanoma Carmustine 2.9112393984
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009181 Mycoses Amiodarone 5.7717974566 12754197
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9811597910 12490602 12832656
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.8318724381
MESH:D013276 Stomach Ulcer Amiodarone 3.7918087811
MESH:D013610 Tachycardia Amiodarone 4.8711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.7719225199
MESH:D013959 Thyroid Diseases Amiodarone 5.6219731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.5118020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.9317467628 11989578
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
KEGG:05100 Bacterial invasion of epithelial cells
KEGG:04961 Endocrine and other factor-regulated calcium reabsorption
KEGG:04144 Endocytosis
KEGG:05016 Huntington's disease
KEGG:04142 Lysosome
REACT:11123 Membrane Trafficking
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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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