ERCC6L2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ERCC6L2 (HGNC:26922) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- ERCC excision repair 6 like 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- C9orf102
- Alias symbols
- FLJ37706, RAD26L, HEBO
- %HI
- 62.16(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 0.79(Read more about gnomAD LOEUF score)
- Cytoband
- 9q22.32
- Genomic Coordinates
-
GRCh37/hg19: chr9:98637973-98803374 NCBI Ensembl UCSC GRCh38/hg38: chr9:95875691-96041092 NCBI Ensembl UCSC - MANE Select Transcript
- NM_020207.7 ENST00000653738.2 (Read more about MANE Select)
- Function
- May be involved in early DNA damage response. {ECO:0000269|PubMed:24507776}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-9978
ClinGen Curation ID:
CCID:007083
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- pancytopenia-developmental delay syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000009.11)
(NC_000009.12)