• 1
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ACD (HGNC:25070) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ACD shelterin complex subunit and telomerase recruitment factor
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
Ptop, Pip1, Tpp1, Tint1
%HI
81.12(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.19(Read more about gnomAD LOEUF score)
Cytoband
16q22.1
Genomic Coordinates
GRCh37/hg19: chr16:67691415-67694163 NCBI Ensembl UCSC
GRCh38/hg38: chr16:67657512-67660260 NCBI Ensembl UCSC
MANE Select Transcript
NM_001082486.2 ENST00000620761.6 (Read more about MANE Select)
Function
Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends. Without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Promotes binding of POT1 to single-stranded telomeric DNA. Modulates the inhibitory effects of P... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-2841
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Little Evidence for Haploinsufficiency (1)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
10/09/2019

Haploinsufficiency (HI) Score Details

HI Score:
1
HI Evidence Strength:
Little Evidence for Haploinsufficiency (Disclaimer)
HI Evidence:
  • PUBMED: 25505254
    Aoude et al. (2015) screened individuals with cutaneous malignant melanoma who previously tested negative for CDKN2A, BAP1, POT1, BRCA2, CDK4, and TERT promoter pathogenic variation as well as a control cohort for germline variation in shelterin genes. ACD p.Q320X (NM_001082486 c.958C>T) was identified in one family and observed in all four affected individuals available for testing. This nonsense variation occurs in POT1 binding domain, which seems to be enriched for missense mutation in the CMM cohort, and is not in the penultimate nor final exon.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
No evidence for triplosensitivity.

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)