AutismKB 2.0

Annotation Detail for SEZ6L2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SEZ6L2 ( FLJ90517,PSK-1 )
Gene Full Name: seizure related 6 homolog (mouse)-like 2
Band: 16p11.2
Quick LinksEntrez ID:26470; OMIM: NA; Uniprot ID:SE6L2_HUMAN; ENSEMBL ID: ENSG00000174938; HGNC ID: 30844
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
Anthropometric traits
Desease Name
Anthropometric traits
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SEZ6L2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SEZ6L2 mRNAaffects expression 21346803
C447119 bazedoxifene acetate bazedoxifene acetate results in decreased expression of SEZ6L2 mRNAdecreases expression 19914376
D002117 Calcitriol Calcitriol results in decreased expression of SEZ6L2 mRNAdecreases expression 16002434
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SEZ6L2 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 14514962 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001321 Autistic Disorder marker/mechanism 19242545
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Calcitriol 2.0711237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0916705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0916705839
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7011237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.006135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 15668235 8697196 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.5618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.5618551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.3715138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 18606429 15340226 16959395 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.3916705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.3916705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.747678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7416984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.422876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.2118551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.217678174 18551238
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.0616049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.0616049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311399792 11896295 11222880 11118676
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.3215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4916644109 15754350 16289102 18247401 12479363
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.6518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.6518551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.8610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.8610091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
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