• 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)