ANKRD35

ankyrin repeat domain 35, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:145866560-145885866

Links

ENSG00000198483 ∙ NCBI:148741 ∙ ∙ HGNC:26323 ∙ Uniprot:Q8N283 ∙ 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 ANKRD35 gene.

• not_specified (137 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000144698.5. 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			123	13		136
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	123	15	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD35	protein_coding	protein_coding	ENST00000355594	13	19297

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.66e-25	0.00863	124708	9	1031	125748	0.00414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.322	532	553	0.961	0.0000298	6337
Missense in Polyphen		121	147.19	0.82205		1694
Synonymous	-0.569	244	233	1.05	0.0000119	2118
Loss of Function	1.07	43	51.3	0.838	0.00000284	534

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00768	0.00759
Ashkenazi Jewish	0.000299	0.000298
East Asian	0.0230	0.0228
Finnish	0.00114	0.00102
European (Non-Finnish)	0.00230	0.00227
Middle Eastern	0.0230	0.0228
South Asian	0.00446	0.00442
Other	0.00395	0.00375

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.993
• rvis_EVS: 0.88
• rvis_percentile_EVS: 88.89

Haploinsufficiency Scores

• pHI: 0.172
• hipred: N
• hipred_score: 0.169
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0499

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd35