ANKRD33

ankyrin repeat domain 33, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 12:51888009-51891727

Previous symbols: [ "C12orf7" ]

Links

ENSG00000167612 ∙ NCBI:341405 ∙ ∙ HGNC:13788 ∙ Uniprot:Q7Z3H0 ∙ 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 ANKRD33 gene.

• not_specified (57 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000182608.4. 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			1	3		4
missense			54	1		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	55	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD33	protein_coding	protein_coding	ENST00000301190	5	3705

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.50e-17	0.000441	125561	1	186	125748	0.000744

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.336	258	274	0.943	0.0000159	2874
Missense in Polyphen		92	102.96	0.89358		1070
Synonymous	-0.186	121	118	1.02	0.00000716	977
Loss of Function	-1.49	22	15.6	1.41	8.55e-7	148

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000273	0.000271
Ashkenazi Jewish	0.000997	0.000993
East Asian	0.00152	0.00152
Finnish	0.000114	0.0000924
European (Non-Finnish)	0.000232	0.000220
Middle Eastern	0.00152	0.00152
South Asian	0.00370	0.00366
Other	0.000657	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a transcriptional repressor for CRX-activated photoreceptor gene regulation. {ECO:0000250|UniProtKB:Q8BXP5}.

Intolerance Scores

• loftool: 0.917
• rvis_EVS: 1.11
• rvis_percentile_EVS: 92.07

Haploinsufficiency Scores

• pHI: 0.104
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.122

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Ankrd33

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;skeletal muscle cell differentiation;negative regulation of transcription regulatory region DNA binding
• Cellular component: nucleus;cytosol