ADNP2
Basic information
Region (hg38): 18:80109262-80147523
Previous symbols: [ "ZNF508" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 65 | 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) | ||
18-80117631-G-A | not specified | Uncertain significance (Nov 16, 2021) | ||
18-80133138-T-G | not specified | Uncertain significance (Apr 26, 2024) | ||
18-80133149-C-T | not specified | Uncertain significance (Nov 18, 2023) | ||
18-80133155-G-T | not specified | Uncertain significance (Jun 12, 2023) | ||
18-80133160-G-A | not specified | Likely benign (Jul 12, 2023) | ||
18-80133179-C-A | not specified | Uncertain significance (Mar 04, 2024) | ||
18-80135666-C-T | not specified | Uncertain significance (Apr 19, 2023) | ||
18-80135682-A-T | not specified | Uncertain significance (Nov 03, 2023) | ||
18-80135691-A-G | not specified | Uncertain significance (Dec 13, 2023) | ||
18-80135694-G-A | not specified | Uncertain significance (Mar 04, 2024) | ||
18-80135704-A-T | not specified | Uncertain significance (Jul 13, 2021) | ||
18-80135775-G-A | not specified | Uncertain significance (Apr 19, 2024) | ||
18-80135802-C-G | not specified | Uncertain significance (Mar 29, 2023) | ||
18-80135807-C-T | not specified | Uncertain significance (Aug 16, 2021) | ||
18-80135823-A-G | not specified | Uncertain significance (Jul 14, 2021) | ||
18-80135997-G-A | not specified | Likely benign (Jun 10, 2022) | ||
18-80136017-G-A | not specified | Uncertain significance (Dec 27, 2023) | ||
18-80136038-A-G | not specified | Uncertain significance (Aug 15, 2023) | ||
18-80136039-T-C | not specified | Uncertain significance (May 09, 2022) | ||
18-80136081-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
18-80136204-C-T | not specified | Likely benign (Jan 05, 2022) | ||
18-80136209-A-G | not specified | Uncertain significance (May 30, 2024) | ||
18-80136272-G-A | not specified | Uncertain significance (Feb 06, 2024) | ||
18-80136383-C-G | not specified | Uncertain significance (Jan 16, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
ADNP2 | protein_coding | protein_coding | ENST00000262198 | 3 | 38492 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.696 | 0.304 | 125727 | 0 | 21 | 125748 | 0.0000835 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.340 | 596 | 620 | 0.962 | 0.0000332 | 7347 |
Missense in Polyphen | 164 | 199.34 | 0.8227 | 2593 | ||
Synonymous | -2.14 | 297 | 254 | 1.17 | 0.0000153 | 2384 |
Loss of Function | 4.08 | 6 | 30.2 | 0.199 | 0.00000160 | 402 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000239 | 0.000239 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000888 | 0.0000879 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000132 | 0.000131 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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