AutismKB 2.0

Annotation Detail for C11orf30


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Basic Information Top
Gene Symbol:C11orf30 ( EMSY,FLJ90741 )
Gene Full Name: chromosome 11 open reading frame 30
Band: 11q13.5
Quick LinksEntrez ID:56946; OMIM: 608574; Uniprot ID:EMSY_HUMAN; ENSEMBL ID: ENSG00000158636; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1859Ovarian cancer
1944Breast cancer
Desease Name
IMMUNE
Crohn's disease
atopic dermatitis
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 decreased expression of C11ORF30 mRNAdecreases expression 19150397
D012643 Selenium Selenium results in decreased expression of C11ORF30 mRNAdecreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of C11ORF30 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001943 Breast Neoplasms marker/mechanism 19636701
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0120889678
MESH:D003092 Colitis Selenium 4.4317936198
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2615131321
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006333 Heart Failure Selenium 3.3217162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D007251 Influenza, Human Selenium 14.0716624496
MESH:D007251 Influenza, Human Vitamin E 14.0716624496
MESH:D007674 Kidney Diseases Vitamin E 3.0312488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.3716518626
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 3.0215318939
MESH:D008654 Mesothelioma Selenium 2.9315107826
MESH:D010954 Plasmacytoma Selenium 5.7615087411
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D020521 Stroke Vitamin E 3.8816517955
No data
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  (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