ANKRD50

ankyrin repeat domain containing 50, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 4:124664048-124712732

Links

ENSG00000151458 ∙ NCBI:57182 ∙ OMIM:619856 ∙ HGNC:29223 ∙ Uniprot:Q9ULJ7 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANKRD50 gene.

• not_specified (148 variants)
• not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD50 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020337.3. 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				4		4
missense			145	2		147
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	145	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD50	protein_coding	protein_coding	ENST00000504087	3	48681

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.979	0.0208	125701	0	46	125747	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.705	683	737	0.927	0.0000383	9295
Missense in Polyphen		176	241.86	0.72769		2982
Synonymous	-1.06	298	276	1.08	0.0000145	2876
Loss of Function	5.49	9	51.5	0.175	0.00000309	647

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000699	0.000699
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000163	0.000163
South Asian	0.0000983	0.0000980
Other	0.000330	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the endosome-to-plasma membrane trafficking and recycling of SNX27-retromer-dependent cargo proteins, such as GLUT1 (PubMed:25278552).

Recessive Scores

• pRec: 0.109

Intolerance Scores

• loftool: 0.493
• rvis_EVS: -1.74
• rvis_percentile_EVS: 2.39

Haploinsufficiency Scores

• pHI: 0.0848
• hipred: N
• hipred_score: 0.427
• ghis: 0.599

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.310

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd50

Gene ontology

• Biological process: protein transport;retrograde transport, endosome to plasma membrane
• Cellular component: endosome
• Molecular function: protein binding