ANKRD13C

ankyrin repeat domain 13C, the group of Ankyrin repeat domain containing

Basic information

Region (hg38): 1:70258999-70354734

Links

ENSG00000118454 ∙ NCBI:81573 ∙ OMIM:615125 ∙ HGNC:25374 ∙ Uniprot:Q8N6S4 ∙ 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 ANKRD13C gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANKRD13C 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			14	1		15
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	14	1	0

Variants in ANKRD13C

This is a list of pathogenic ClinVar variants found in the ANKRD13C region.

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

Position	Type	Phenotype	Significance	ClinVar
1-70262787-T-G		not specified	Uncertain significance (Jan 22, 2024)
1-70270934-C-T		not specified	Likely benign (Apr 06, 2022)
1-70274783-T-G		not specified	Uncertain significance (Apr 07, 2022)
1-70274818-T-C		not specified	Likely benign (Oct 20, 2023)
1-70292408-T-C		not specified	Uncertain significance (Jan 03, 2024)
1-70300767-A-C		not specified	Uncertain significance (Jan 16, 2024)
1-70300841-T-A		not specified	Uncertain significance (Dec 04, 2023)
1-70324885-G-A		not specified	Uncertain significance (Aug 21, 2023)
1-70354002-T-C		not specified	Uncertain significance (Jun 16, 2024)
1-70354069-A-G		not specified	Uncertain significance (Jan 05, 2022)
1-70354099-C-A		not specified	Uncertain significance (May 08, 2024)
1-70354156-C-A		not specified	Uncertain significance (Feb 16, 2023)
1-70354171-G-C		not specified	Uncertain significance (Jun 03, 2022)
1-70354180-C-T		not specified	Uncertain significance (Apr 01, 2024)
1-70354183-G-T		not specified	Uncertain significance (Jun 16, 2024)
1-70354194-G-A		not specified	Uncertain significance (Feb 15, 2023)
1-70354197-T-C		not specified	Uncertain significance (Feb 06, 2023)
1-70354236-T-C		not specified	Uncertain significance (Dec 16, 2023)
1-70354275-T-C		not specified	Uncertain significance (Apr 19, 2024)
1-70354333-C-T		not specified	Uncertain significance (Sep 30, 2021)
1-70354351-C-G		not specified	Uncertain significance (Apr 27, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANKRD13C	protein_coding	protein_coding	ENST00000370944	13	94147

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.998	0.00207	125734	0	9	125743	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.37	177	291	0.609	0.0000143	3554
Missense in Polyphen		34	99.148	0.34292		1255
Synonymous	0.629	101	109	0.923	0.00000539	1032
Loss of Function	4.69	3	31.3	0.0959	0.00000194	348

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000893	0.0000893
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a molecular chaperone for G protein-coupled receptors, regulating their biogenesis and exit from the ER. {ECO:0000269|PubMed:20959461}.

Intolerance Scores

• loftool: 0.190
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.532
• hipred: Y
• hipred_score: 0.673
• ghis: 0.656

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.657

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ankrd13c

Gene ontology

• Biological process: protein retention in ER lumen;regulation of receptor biosynthetic process;regulation of anoikis
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;perinuclear region of cytoplasm
• Molecular function: signaling receptor binding