AutismKB 2.0

Annotation Detail for EPB41L4A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPB41L4A ( DKFZp566L203,EPB41L4,FLJ38738,NBL4 )
Gene Full Name: erythrocyte membrane protein band 4.1 like 4A
Band: 5q22.1-q22.2
Quick LinksEntrez ID:64097; OMIM: 612141; Uniprot ID:E41LA_HUMAN; ENSEMBL ID: ENSG00000129595; HGNC ID: 13278
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
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in increased expression of EPB41L4A mRNAincreases expression 20406850
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of EPB41L4A mRNAincreases expression 20382639
D004958 Estradiol [Progesterone co-treated with Estradiol] results in decreased expression of EPB41L4A mRNAaffects cotreatment|decreases expression 17404688
D011374 Progesterone [Progesterone co-treated with Estradiol] results in decreased expression of EPB41L4A mRNAaffects cotreatment|decreases expression 17404688
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Estradiol 2.1711473722
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 6.0617868700
MESH:D001930 Brain Injuries Progesterone 4.8215665606 15380490 15845082
MESH:D001943 Breast Neoplasms Estradiol 2.1719861407 16675129 14630087 12948864 17018787 17289903 18497071 17261762
MESH:D001943 Breast Neoplasms Progesterone 2.1717614352 15562024 16175315
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.0916111702
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1016705839
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1016924424
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.736135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.7320889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 12.7318566989
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:D003928 Diabetic Nephropathies Estradiol 3.7819279558
MESH:D003929 Diabetic Neuropathies Progesterone 5.0517187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0518551238 21346803
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 4.2817692515
MESH:D016889 Endometrial Neoplasms Estradiol 3.2211473722 18566989 19148513
MESH:D004715 Endometriosis Progesterone 4.1616134523
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D006558 Herpes Genitalis Estradiol 5.7615709030
MESH:D019584 Hot Flashes Estradiol 4.4717088409
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.9615869954
MESH:D007249 Inflammation Progesterone 2.7715869954
MESH:D007333 Insulin Resistance Estradiol 3.2116627594 16393666
MESH:D007674 Kidney Diseases Estradiol 2.7815618244
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.5316705839
MESH:D007680 Kidney Neoplasms Estradiol 8.5315610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6814659978 14716833
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 2876786 6135515
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.8616891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.8617203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.2119453300
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.5916810080
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.4918551238 7678174
MESH:D009389 Neovascularization, Pathologic Estradiol 4.3617289903
MESH:D009421 Nervous System Malformations Estradiol 4.1616427766 11399458
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D010051 Ovarian Neoplasms Estradiol 5.2019401270
MESH:D010051 Ovarian Neoplasms Progesterone 5.2016525653 17393432
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.3120887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0216740699
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9618045962
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
MESH:D013119 Spinal Cord Injuries Progesterone 4.9115862959 16503802
MESH:D013978 Tibial Fractures Estradiol 5.4119048282
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.9510091137
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved