AutismKB 2.0

Annotation Detail for LRRC48


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Basic Information Top
Gene Symbol:LRRC48 ( DKFZp586M1120 )
Gene Full Name: leucine rich repeat containing 48
Band: 17p11.2
Quick LinksEntrez ID:83450; OMIM: NA; Uniprot ID:LRC48_HUMAN; ENSEMBL ID: ENSG00000171962; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of LRRC48 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of LRRC48 mRNAincreases expression 20406850
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of LRRC48 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of LRRC48 mRNAdecreases expression 20127859
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1116705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1116705839
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.066135515
MESH:D003490 Cyanosis 2,4-dinitrotoluene 13.1618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 13.1618551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.1918551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.1921346803 18551238
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8520471113
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.6716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.6716705839
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.937678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9321137059 20195826
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.792876786 2876784 6135515
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718569708 6695378 18816296 17053015 20464547 20869020 20064080 20135361 18520028
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.9618551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.9618551238 7678174
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3511141357
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.4112819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.4116049721
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D012640 Seizures 2,4-dinitrotoluene 6.8418551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.8418551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5419755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 9.0916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 9.0916049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 9.0917053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 14.6010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 14.6010091137
No data
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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