CCBE1 Back

collagen and calcium binding EGF domains 1

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NCBI Description of CCBE1
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

Community Annotation of CCBE1 Add / Edit CCBE1: Annotations

No community annotations yet for CCBE1.
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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

CCBE1 is highly significantly mutated in
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CCBE1 is significantly mutated in
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CCBE1 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for CCBE1