AutismKB 2.0

Annotation Detail for C11orf54


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Basic Information Top
Gene Symbol:C11orf54 ( PTD012 )
Gene Full Name: chromosome 11 open reading frame 54
Band: 11q21
Quick LinksEntrez ID:28970; OMIM: NA; Uniprot ID:CK054_HUMAN; ENSEMBL ID: ENSG00000182919; HGNC ID: 30204
Relate to Another Database: SFARIGene; denovo-db
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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 C11ORF54 mRNAdecreases expression 20018196
D016572 Cyclosporine Cyclosporine results in decreased expression of C11ORF54 mRNAdecreases expression 20106945
D002117 Calcitriol Calcitriol results in increased expression of C11ORF54 mRNAincreases expression 16002434
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001943 Breast Neoplasms Calcitriol 2.5611237771
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7211237771
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.5420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.5412371664
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.5215138306
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7018481113 19348381
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.5215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4816644109 16289102 12479363 15754350 18247401
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
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