ANKRD49

ankyrin repeat domain 49, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 11:94493979-94499578

Links

ENSG00000168876 ∙ NCBI:54851 ∙ OMIM:619571 ∙ HGNC:25970 ∙ Uniprot:Q8WVL7 ∙ 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 ANKRD49 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD49 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			5			5
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	5	0	1

Variants in ANKRD49

This is a list of pathogenic ClinVar variants found in the ANKRD49 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-94494042-T-C			Likely benign (Jun 23, 2018)
11-94496713-A-G		not specified	Uncertain significance (Jun 29, 2022)
11-94496829-G-A		not specified	Uncertain significance (Sep 27, 2021)
11-94496948-T-A		not specified	Uncertain significance (Dec 21, 2023)
11-94498091-C-G		not specified	Benign (Mar 29, 2016)
11-94498103-G-C		not specified	Uncertain significance (Sep 06, 2022)
11-94498272-A-G		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD49	protein_coding	protein_coding	ENST00000544612	2	5955

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000537	0.714	125720	0	27	125747	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.887	99	127	0.779	0.00000630	1589
Missense in Polyphen		24	31.875	0.75294		413
Synonymous	1.32	36	47.6	0.757	0.00000242	446
Loss of Function	0.869	6	8.78	0.684	5.04e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.00	0.00
East Asian	0.000178	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000187	0.000185
Middle Eastern	0.000178	0.000163
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Induces HBG1 expression (PubMed:16131492, PubMed:11162141). May have a role in spermatogenesis where it promotes autophagy in response to serum starvation, via the NF- kappaB pathway (By similarity). {ECO:0000250|UniProtKB:Q8VE42, ECO:0000269|PubMed:11162141, ECO:0000269|PubMed:16131492}.

Recessive Scores

• pRec: 0.112

Intolerance Scores

• loftool: 0.731
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.444
• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.147

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd49

Gene ontology

• Biological process: spermatogenesis;cell differentiation;positive regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: protein binding