SOWAHA

sosondowah ankyrin repeat domain family member A, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 5:132813301-132816786

Previous symbols: [ "ANKRD43" ]

Links

ENSG00000198944 ∙ NCBI:134548 ∙ ∙ HGNC:27033 ∙ Uniprot:Q2M3V2 ∙ 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 SOWAHA gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SOWAHA 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						0
missense			45	2		47
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	45	2	0

Variants in SOWAHA

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

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

Position	Type	Phenotype	Significance	ClinVar
5-132813671-C-A		not specified	Uncertain significance (Apr 12, 2022)
5-132813717-C-A		not specified	Uncertain significance (Nov 09, 2021)
5-132813776-C-T		not specified	Uncertain significance (Jan 24, 2024)
5-132813791-G-A		not specified	Uncertain significance (Apr 19, 2023)
5-132813817-G-A		not specified	Uncertain significance (Nov 30, 2021)
5-132813874-C-T		not specified	Uncertain significance (Nov 05, 2021)
5-132813875-C-A		not specified	Uncertain significance (May 28, 2024)
5-132813908-C-T		not specified	Uncertain significance (Mar 16, 2022)
5-132813968-C-T		not specified	Uncertain significance (Aug 12, 2022)
5-132813997-C-G		not specified	Uncertain significance (Feb 14, 2023)
5-132814021-G-A		not specified	Uncertain significance (Dec 20, 2021)
5-132814057-G-C		not specified	Likely benign (Jul 20, 2022)
5-132814072-G-A		not specified	Uncertain significance (Oct 03, 2023)
5-132814090-G-A		not specified	Uncertain significance (Feb 15, 2023)
5-132814097-G-C		not specified	Likely benign (Jun 02, 2023)
5-132814114-C-T		not specified	Uncertain significance (Feb 05, 2024)
5-132814130-T-C		not specified	Uncertain significance (Dec 26, 2023)
5-132814133-C-G		not specified	Uncertain significance (Dec 26, 2023)
5-132814169-C-T		not specified	Uncertain significance (Jun 06, 2023)
5-132814213-C-A		not specified	Uncertain significance (Jun 10, 2022)
5-132814283-T-G		not specified	Uncertain significance (May 27, 2022)
5-132814294-C-G		not specified	Uncertain significance (May 17, 2023)
5-132814319-G-A		not specified	Uncertain significance (Feb 12, 2024)
5-132814351-T-G		not specified	Uncertain significance (Jul 12, 2022)
5-132814394-G-T		not specified	Uncertain significance (Aug 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SOWAHA	protein_coding	protein_coding	ENST00000378693	1	3456

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.682	0.314	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.851	242	282	0.857	0.0000171	3315
Missense in Polyphen		82	103.25	0.79419		1214
Synonymous	0.652	123	133	0.928	0.00000847	1296
Loss of Function	2.30	1	8.04	0.124	5.16e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0949
• ghis: 0.415

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sowaha