ADNP |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- ADNP (HGNC:15766) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- activity dependent neuroprotector homeobox
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- KIAA0784, ADNP1
- %HI
- 9.79(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 1(Read more about gnomAD pLI score)
- LOEUF
- 0.12(Read more about gnomAD LOEUF score)
- Cytoband
- 20q13.13
- Genomic Coordinates
-
GRCh37/hg19: chr20:49505455-49547974 NCBI Ensembl UCSC GRCh38/hg38: chr20:50888918-50931437 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001282531.3 ENST00000621696.5 (Read more about MANE Select)
- Function
- May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta- catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity). {ECO:0000250|UniProtKB:Q9Z103}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22312
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency
(3)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
11/22/2017
Haploinsufficiency (HI) Score Details
HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency
(Disclaimer)
HI Disease:
- ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder Monarch
HI Evidence:
-
PUBMED:
24531329
9 patients reported with de novo LOF variants in ADNP identified by WES or molecular inversion probes specific for ADNP
-
PUBMED:
25533962
4 patients with de novo LOF variants in ADNP
HI Evidence Comments:
21 patients with de novo LOF variants reported with a developmental brain disorder (ID/DD, ASD, epilepsy, ADHD) in the Geisinger DBD database:
https://geisingeradmi.org/care-innovation/studies/dbd-genes/genes/ADNP.html. See GeneReviews for additional information.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000020.10)
(NC_000020.11)