ADNP2

ADNP homeobox 2, the group of Zinc fingers C2H2-type|ZF class homeoboxes and pseudogenes

Basic information

Region (hg38): 18:80109262-80147523

Previous symbols: [ "ZNF508" ]

Links

ENSG00000101544NCBI:22850OMIM:617422HGNC:23803Uniprot:Q6IQ32AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADNP2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADNP2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
2
clinvar
2
missense
65
clinvar
7
clinvar
72
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 65 9 0

Variants in ADNP2

This is a list of pathogenic ClinVar variants found in the ADNP2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
18-80117606-A-G not specified Uncertain significance (Oct 13, 2023)3089924
18-80117631-G-A not specified Uncertain significance (Nov 16, 2021)2259277
18-80133138-T-G not specified Uncertain significance (Apr 26, 2024)3273346
18-80133149-C-T not specified Uncertain significance (Nov 18, 2023)3089738
18-80133155-G-T not specified Uncertain significance (Jun 12, 2023)2512776
18-80133160-G-A not specified Likely benign (Jul 12, 2023)2603444
18-80133179-C-A not specified Uncertain significance (Mar 04, 2024)3089755
18-80135666-C-T not specified Uncertain significance (Apr 19, 2023)2538820
18-80135682-A-T not specified Uncertain significance (Nov 03, 2023)3089809
18-80135691-A-G not specified Uncertain significance (Dec 13, 2023)3089811
18-80135694-G-A not specified Uncertain significance (Mar 04, 2024)3089823
18-80135704-A-T not specified Uncertain significance (Jul 13, 2021)2236643
18-80135775-G-A not specified Uncertain significance (Apr 19, 2024)3273405
18-80135802-C-G not specified Uncertain significance (Mar 29, 2023)2531071
18-80135807-C-T not specified Uncertain significance (Aug 16, 2021)2392161
18-80135823-A-G not specified Uncertain significance (Jul 14, 2021)2237557
18-80135997-G-A not specified Likely benign (Jun 10, 2022)2295052
18-80136017-G-A not specified Uncertain significance (Dec 27, 2023)3089915
18-80136038-A-G not specified Uncertain significance (Aug 15, 2023)2618945
18-80136039-T-C not specified Uncertain significance (May 09, 2022)2288102
18-80136081-A-G not specified Uncertain significance (Dec 22, 2023)2396685
18-80136204-C-T not specified Likely benign (Jan 05, 2022)2225556
18-80136209-A-G not specified Uncertain significance (May 30, 2024)3273411
18-80136272-G-A not specified Uncertain significance (Feb 06, 2024)3089933
18-80136383-C-G not specified Uncertain significance (Jan 16, 2024)3089942

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADNP2protein_codingprotein_codingENST00000262198 338492
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.6960.3041257270211257480.0000835
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3405966200.9620.00003327347
Missense in Polyphen164199.340.82272593
Synonymous-2.142972541.170.00001532384
Loss of Function4.08630.20.1990.00000160402

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002390.000239
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.00004620.0000462
European (Non-Finnish)0.00008880.0000879
Middle Eastern0.000.00
South Asian0.0001320.000131
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec
0.106

Intolerance Scores

loftool
0.0420
rvis_EVS
-1.5
rvis_percentile_EVS
3.6

Haploinsufficiency Scores

pHI
0.171
hipred
N
hipred_score
0.338
ghis
0.574

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.897

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Adnp2
Phenotype

Zebrafish Information Network

Gene name
adnp2a
Affected structure
blood cell
Phenotype tag
abnormal
Phenotype quality
absent

Gene ontology

Biological process
regulation of transcription by RNA polymerase II;neuron differentiation;positive regulation of cell growth;cellular response to oxidative stress;negative regulation of cell death;cellular response to retinoic acid
Cellular component
cellular_component;nucleus
Molecular function
DNA-binding transcription factor activity, RNA polymerase II-specific;molecular_function;DNA binding;protein binding;metal ion binding