ANKRD13B

ankyrin repeat domain 13B, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 17:29589769-29614761

Links

ENSG00000198720 ∙ NCBI:124930 ∙ OMIM:615124 ∙ HGNC:26363 ∙ Uniprot:Q86YJ7 ∙ 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 ANKRD13B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD13B 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				1		1
missense			25			25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	1	0

Variants in ANKRD13B

This is a list of pathogenic ClinVar variants found in the ANKRD13B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-29593626-T-A		not specified	Uncertain significance (Dec 27, 2022)
17-29593658-G-C		not specified	Uncertain significance (Oct 26, 2022)
17-29593661-G-C		not specified	Uncertain significance (Dec 10, 2024)
17-29593661-G-T		not specified	Uncertain significance (Jun 16, 2023)
17-29593680-A-T		not specified	Uncertain significance (Aug 14, 2024)
17-29593697-C-T		not specified	Uncertain significance (Aug 16, 2021)
17-29607784-C-T		not specified	Uncertain significance (Sep 26, 2024)
17-29607821-G-A		not specified	Uncertain significance (Dec 18, 2023)
17-29607833-C-T		not specified	Uncertain significance (May 16, 2024)
17-29607847-G-A		not specified	Uncertain significance (Sep 03, 2024)
17-29607863-G-A		not specified	Uncertain significance (Jun 24, 2022)
17-29608040-G-A		not specified	Uncertain significance (Nov 13, 2024)
17-29608076-C-T		not specified	Uncertain significance (Mar 01, 2024)
17-29608087-G-A		not specified	Uncertain significance (May 14, 2024)
17-29608913-C-G		not specified	Uncertain significance (Aug 01, 2024)
17-29608986-G-A		not specified	Uncertain significance (Oct 08, 2024)
17-29609122-G-A		not specified	Uncertain significance (Apr 19, 2024)
17-29609178-C-G		not specified	Uncertain significance (Jan 23, 2023)
17-29609187-G-A		not specified	Uncertain significance (Jan 20, 2023)
17-29609227-C-T		not specified	Uncertain significance (Oct 11, 2024)
17-29609250-G-C		not specified	Uncertain significance (Dec 11, 2023)
17-29609385-T-G		not specified	Uncertain significance (Nov 09, 2024)
17-29610743-A-G		not specified	Uncertain significance (Jun 28, 2023)
17-29610750-C-G		not specified	Uncertain significance (May 23, 2024)
17-29611579-G-T		not specified	Uncertain significance (Mar 20, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD13B	protein_coding	protein_coding	ENST00000394859	15	24993

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.362	0.638	125737	0	8	125745	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.20	205	380	0.539	0.0000252	4013
Missense in Polyphen		68	145.21	0.46829		1401
Synonymous	1.67	132	159	0.831	0.0000107	1272
Loss of Function	3.98	7	30.9	0.227	0.00000159	338

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000544	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000331	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Ubiquitin-binding protein that specifically recognizes and binds 'Lys-63'-linked ubiquitin. Does not bind 'Lys-48'-linked ubiquitin. Positively regulates the internalization of ligand- activated EGFR by binding to the Ub moiety of ubiquitinated EGFR at the cell membrane. {ECO:0000269|PubMed:22298428}.

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.361
• rvis_EVS: -0.76
• rvis_percentile_EVS: 13.33

Haploinsufficiency Scores

• pHI: 0.612
• hipred: Y
• hipred_score: 0.728
• ghis: 0.683

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.887

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd13b

Gene ontology

• Cellular component: early endosome;late endosome;plasma membrane;intracellular membrane-bounded organelle