ANKRD6

ankyrin repeat domain 6, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 6:89433152-89633834

Links

ENSG00000135299 ∙ NCBI:22881 ∙ OMIM:610583 ∙ HGNC:17280 ∙ Uniprot:Q9Y2G4 ∙ 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 ANKRD6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD6 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				4	5	9
missense			51	2	6	59
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	51	6	11

Variants in ANKRD6

This is a list of pathogenic ClinVar variants found in the ANKRD6 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-89566998-G-A		not specified	Uncertain significance (Nov 03, 2022)
6-89567032-A-T		not specified	Uncertain significance (Apr 08, 2022)
6-89567061-C-T		not specified	Uncertain significance (May 03, 2023)
6-89567064-A-C		not specified	Uncertain significance (Dec 17, 2021)
6-89595923-G-A		not specified	Uncertain significance (Mar 30, 2024)
6-89603051-G-A		not specified	Uncertain significance (Nov 03, 2022)
6-89603051-G-T		not specified	Uncertain significance (Jan 10, 2022)
6-89603087-C-T		not specified	Uncertain significance (Jan 26, 2022)
6-89606052-C-G		ANKRD6-related disorder	Benign (Feb 19, 2020)
6-89606057-A-G			Benign (May 21, 2018)
6-89606069-C-T		ANKRD6-related disorder	Likely benign (Sep 17, 2019)
6-89606070-A-G		ANKRD6-related disorder	Benign (Oct 17, 2019)
6-89606091-C-G		not specified	Uncertain significance (Aug 08, 2023)
6-89612273-C-T		not specified	Uncertain significance (Mar 21, 2024)
6-89612308-A-C		not specified	Uncertain significance (Apr 13, 2022)
6-89612311-C-T		not specified	Uncertain significance (Dec 27, 2023)
6-89612325-G-A		ANKRD6-related disorder	Likely benign (Apr 09, 2019)
6-89612326-C-T		not specified	Uncertain significance (Jan 31, 2023)
6-89612329-G-A		not specified	Uncertain significance (Aug 12, 2021)
6-89612350-C-T		not specified	Uncertain significance (Mar 06, 2023)
6-89612351-G-A		not specified	Uncertain significance (Oct 24, 2023)
6-89613802-C-A		not specified	Uncertain significance (Aug 02, 2021)
6-89613813-G-A		not specified	Uncertain significance (Dec 28, 2023)
6-89613820-C-T		not specified	Uncertain significance (Nov 09, 2023)
6-89613821-G-A			Likely benign (Jul 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD6	protein_coding	protein_coding	ENST00000522441	15	200665

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.17e-11	0.916	124591	0	61	124652	0.000245

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.742	364	406	0.896	0.0000228	4673
Missense in Polyphen		110	124.95	0.88038		1469
Synonymous	0.954	149	165	0.905	0.0000100	1440
Loss of Function	2.00	23	35.9	0.641	0.00000195	414

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000697	0.000696
Ashkenazi Jewish	0.00	0.00
East Asian	0.000448	0.000445
Finnish	0.00	0.00
European (Non-Finnish)	0.000235	0.000230
Middle Eastern	0.000448	0.000445
South Asian	0.000196	0.000196
Other	0.000165	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Recruits CKI-epsilon to the beta-catenin degradation complex that consists of AXN1 or AXN2 and GSK3-beta and allows efficient phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf signals. {ECO:0000250}.

Recessive Scores

• pRec: 0.110

Intolerance Scores

• loftool: 0.920
• rvis_EVS: 0.07
• rvis_percentile_EVS: 59.16

Haploinsufficiency Scores

• pHI: 0.398
• hipred: Y
• hipred_score: 0.715
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.823

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd6
• Phenotype: reproductive system phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: ankrd6b
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: positive regulation of JNK cascade;negative regulation of canonical Wnt signaling pathway;positive regulation of Wnt signaling pathway, planar cell polarity pathway
• Cellular component: nucleus;cytoplasm;intracellular membrane-bounded organelle