ANKDD1A

ankyrin repeat and death domain containing 1A, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 15:64911902-64958691

Links

ENSG00000166839 ∙ NCBI:348094 ∙ ∙ HGNC:28002 ∙ Uniprot:Q495B1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKDD1A gene.

• not_specified (73 variants)
• not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKDD1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182703.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				2		2
missense			69	4		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKDD1A	protein_coding	protein_coding	ENST00000380230	15	46942

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.74e-17	0.0159	125633	0	115	125748	0.000457

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.645	284	316	0.898	0.0000193	3398
Missense in Polyphen		93	106.34	0.87456		1264
Synonymous	-0.827	148	136	1.09	0.00000925	1062
Loss of Function	0.362	26	28.1	0.926	0.00000154	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00134	0.00131
Ashkenazi Jewish	0.000415	0.000397
East Asian	0.00131	0.00109
Finnish	0.0000931	0.0000924
European (Non-Finnish)	0.000381	0.000325
Middle Eastern	0.00131	0.00109
South Asian	0.000690	0.000686
Other	0.000666	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0916

Intolerance Scores

• loftool: 0.622
• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.28

Haploinsufficiency Scores

• pHI: 0.101
• hipred: N
• hipred_score: 0.167
• ghis: 0.504

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0653

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ankdd1a

Gene ontology

• Biological process: signal transduction