CLN8 |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CLN8 (HGNC:2079) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CLN8 transmembrane ER and ERGIC protein
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- EPMR, C8orf61
- Alias symbols
- FLJ39417, TLCD6
- %HI
- 76.78(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.18(Read more about gnomAD LOEUF score)
- Cytoband
- 8p23.3
- Genomic Coordinates
-
GRCh37/hg19: chr8:1711955-1734736 NCBI Ensembl UCSC GRCh38/hg38: chr8:1753059-1786570 NCBI Ensembl UCSC - MANE Select Transcript
- NM_018941.4 ENST00000331222.6 (Read more about MANE Select)
- Function
- Could play a role in cell proliferation during neuronal differentiation and in protection against cell death. {ECO:0000269|PubMed:19431184}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-10513
ClinGen Curation ID:
CCID:006881
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- neuronal ceroid lipofuscinosis 8 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000008.10)
(NC_000008.11)