ACD |
- 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)