AutismKB 2.0

Annotation Detail for LRRCC1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:LRRCC1 ( CLERC,KIAA1764,SAP2 )
Gene Full Name: leucine rich repeat and coiled-coil domain containing 1
Band: 8q21.2
Quick LinksEntrez ID:85444; OMIM: NA; Uniprot ID:LRCC1_HUMAN; ENSEMBL ID: ENSG00000133739; HGNC ID: 29373
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of LRRCC1 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LRRCC1 mRNAdecreases expression 20064835
D016572 Cyclosporine Cyclosporine results in decreased expression of LRRCC1 mRNAdecreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of LRRCC1 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4711752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 4.1918287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8620146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5616120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis Cyclosporine 3.2119486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415340226 15668235 8697196 16354765 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6215322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.429294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Cyclosporine 3.2819224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Cyclosporine 10.4212168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.4220067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0520471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0511294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4516120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 16354765 8697196 16959395 18606429
MESH:D006973 Hypertension Cyclosporine 5.3510903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3518670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.7321137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7316984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3312151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2720135361 18816296 17053015 18520028 6695378 20464547 20869020 18569708 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2719555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211118676 11896295 11222880 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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