AutismKB 2.0

Annotation Detail for CCDC125


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Basic Information Top
Gene Symbol:CCDC125 ( KENAE )
Gene Full Name: coiled-coil domain containing 125
Band: 5q13.2
Quick LinksEntrez ID:202243; OMIM: NA; Uniprot ID:CC125_HUMAN; ENSEMBL ID: ENSG00000183323; HGNC ID: 28924
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of CCDC125 mRNAdecreases expression 20106945
D012402 Rotenone Rotenone results in increased expression of CCDC125 mRNAincreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8512371664
MESH:D002779 Cholestasis Cyclosporine 3.2819486331
MESH:D005234 Fatty Liver Cyclosporine 3.4019224547
MESH:D005355 Fibrosis Cyclosporine 3.9012168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 5.118708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.3115720958
MESH:D006973 Hypertension Cyclosporine 2.2410903974
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.5115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1712371664
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.8616801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.5117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7518481113 19348381
MESH:D009410 Nerve Degeneration Rotenone 4.2618619942 17356569 15790535
MESH:D010300 Parkinson Disease Rotenone 3.1119232380 15451049 11445065 18619942 11535288 16412576 19114014 18191903 16140633
MESH:D020734 Parkinsonian Disorders Rotenone 4.5815795934 15927086 18197244 15574749
MESH:D011230 Precancerous Conditions Cyclosporine 3.6912371664
MESH:D011565 Psoriasis Cyclosporine 2.3516882103
MESH:D014605 Uveitis Cyclosporine 5.051336536
MESH:D014985 Xerophthalmia Cyclosporine 5.5117120751
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