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EML6 |
Gene Facts External Data Attribution
- HGNC Symbol
- EML6 (HGNC:35412) HGNC Entrez Ensembl UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- EMAP like 6
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- FLJ42562
- %HI
- 21.22(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.73(Read more about gnomAD LOEUF score)
- Cytoband
- 2p16.1
- Genomic Coordinates
-
GRCh37/hg19: chr2:54952149-55199157 NCBI Ensembl UCSC GRCh38/hg38: chr2:54723552-54972025 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001039753.4 ENST00000356458.8 (Read more about MANE Select)
- Function
- May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. {ECO:0000250}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-12957
Curation Status:
Awaiting Review
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Awaiting Review
Triplosensitivity:
Awaiting Review
Last Evaluated:
Awaiting Review
Haploinsufficiency (HI) Score Details
Review not yet complete.
Triplosensitivity (TS) Score Details
Review not yet complete.
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)
