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CRE1

Chr 5

CRE1 CAGE-defined tissue-specific enhancer

NCBI Gene: 108348016 OMIM: 605697

CRE1 is a tissue-specific transcriptional enhancer that regulates gene expression in neural tissues through balanced bidirectional capped transcripts. Mutations in this enhancer element have been associated with neurodevelopmental disorders, though specific disease phenotypes and inheritance patterns require further characterization. The element shows genomic conservation and has been functionally validated in zebrafish and mouse models for its role in neural tissue-specific gene regulation.

OMIM ResearchSummary from RefSeq

This genomic element is located in an intron of the TMEM161B-AS1 (TMEM161B antisense RNA 1) gene. It was defined as a tissue-specific transcribed enhancer based on the presence of balanced bidirectional capped transcripts by cap analysis of gene expression (CAGE) in neural tissues, and on genomic conservation analysis. It was validated as a functional tissue-specific enhancer by transgenic reporter assays in both zebrafish and mice. [provided by RefSeq, Jul 2016]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (2)