ANKRD37

ankyrin repeat domain 37, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 4:185396021-185400628

Links

ENSG00000186352 ∙ NCBI:353322 ∙ OMIM:619021 ∙ HGNC:29593 ∙ Uniprot:Q7Z713 ∙ 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 ANKRD37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD37 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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	0

Variants in ANKRD37

This is a list of pathogenic ClinVar variants found in the ANKRD37 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-185396927-C-G		not specified	Uncertain significance (Jun 10, 2024)
4-185396928-T-A		not specified	Uncertain significance (Sep 20, 2023)
4-185397240-G-A		not specified	Uncertain significance (Dec 27, 2022)
4-185397245-C-A		not specified	Uncertain significance (Jun 05, 2023)
4-185397252-G-A		not specified	Uncertain significance (Jul 27, 2022)
4-185399586-G-A		not specified	Uncertain significance (Nov 07, 2022)
4-185399611-G-C		not specified	Uncertain significance (Jun 12, 2023)
4-185399661-A-G		not specified	Uncertain significance (Nov 19, 2022)
4-185399712-G-A		not specified	Uncertain significance (Apr 17, 2024)
4-185400426-T-G			Uncertain significance (Dec 17, 2022)
4-185400429-T-C		Cerebral visual impairment and intellectual disability	Likely pathogenic (Sep 09, 2015)
4-185400462-T-G		not specified	Uncertain significance (Apr 07, 2022)
4-185400469-C-T		Hip dysplasia, Beukes type	Uncertain significance (Mar 29, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD37	protein_coding	protein_coding	ENST00000335174	4	4608

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	125671	0	77	125748	0.000306

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.239	94	87.7	1.07	0.00000437	1028
Missense in Polyphen		23	28.462	0.8081		348
Synonymous	0.0272	37	37.2	0.994	0.00000212	309
Loss of Function	0.868	6	8.77	0.684	3.70e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00135	0.00134
Ashkenazi Jewish	0.000200	0.000198
East Asian	0.000272	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.000272	0.000272
South Asian	0.000867	0.000817
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.687
• rvis_EVS: 0.5
• rvis_percentile_EVS: 79.89

Haploinsufficiency Scores

• pHI: 0.0799
• hipred: N
• hipred_score: 0.144
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.207

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd37

Gene ontology

• Cellular component: nucleus;mitochondrion;cytosol