L3MBTL1
  • 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
L3MBTL1 (HGNC:15905) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
L3MBTL histone methyl-lysine binding protein 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
L3MBTL
Alias symbols
ZC2HC3, dJ138B7.3, DKFZp586P1522, KIAA0681
%HI
47.47(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.84(Read more about gnomAD LOEUF score)
Cytoband
20q13.12
Genomic Coordinates
GRCh37/hg19: chr20:42136337-42179594 NCBI Ensembl UCSC
GRCh38/hg38: chr20:43507697-43550954 NCBI Ensembl UCSC
MANE Select Transcript
NM_001377303.1 ENST00000418998.7 (Read more about MANE Select)
Function
Polycomb group (PcG) protein that specifically recognizes and binds mono- and dimethyllysine residues on target proteins, therey acting as a 'reader' of a network of post-translational modifications. PcG proteins maintain the transcriptionally repressive state of genes: acts as a chromatin compaction factor by recognizing and binding mono- and dimethylated histone H1b/H1-4 at 'Lys-26' (H1bK26me1 and H1bK26me2) and histone H4 at 'Lys-20' (H4K20me1 and H4K20me2), leading to condense chromatin and ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28154
ClinGen Curation ID:
CCID:007384
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/29/2012

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
There have been no reports of deletions involving this gene and an associated human phenotype/disorder.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
There have been no reports of duplications involving this gene and an associated human phenotype/disorder.

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)