HEATR6

HEAT repeat containing 6, the group of Armadillo like helical domain containing|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:60041008-60078922

Links

ENSG00000068097 ∙ NCBI:63897 ∙ ∙ HGNC:24076 ∙ Uniprot:Q6AI08 ∙ 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 HEATR6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HEATR6 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			103	4		107
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	103	4	0

Variants in HEATR6

This is a list of pathogenic ClinVar variants found in the HEATR6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-60043582-G-A		not specified	Likely benign (Aug 20, 2024)
17-60043642-C-T		not specified	Uncertain significance (Jul 15, 2021)
17-60043740-G-T		not specified	Uncertain significance (Jul 03, 2024)
17-60043757-C-G		not specified	Uncertain significance (Mar 02, 2023)
17-60043789-A-G		not specified	Uncertain significance (Dec 21, 2023)
17-60043847-G-A		not specified	Uncertain significance (Dec 15, 2024)
17-60043987-C-T		not specified	Likely benign (Feb 28, 2023)
17-60043988-G-A		not specified	Uncertain significance (Oct 06, 2024)
17-60044020-C-G		not specified	Uncertain significance (Jan 04, 2024)
17-60044035-G-A		not specified	Uncertain significance (Sep 29, 2022)
17-60044056-A-C		not specified	Uncertain significance (May 15, 2024)
17-60044059-C-T		not specified	Uncertain significance (Sep 29, 2023)
17-60044101-G-A		not specified	Uncertain significance (Aug 01, 2022)
17-60044104-T-C		not specified	Likely benign (Jan 24, 2023)
17-60046064-C-T		not specified	Uncertain significance (Feb 15, 2023)
17-60046073-C-T		not specified	Uncertain significance (Mar 16, 2022)
17-60046100-C-G		not specified	Uncertain significance (Nov 14, 2024)
17-60046151-C-A		not specified	Uncertain significance (Sep 29, 2022)
17-60046154-A-C		not specified	Uncertain significance (May 15, 2023)
17-60046180-T-C		not specified	Uncertain significance (Nov 09, 2022)
17-60046218-A-C		not specified	Uncertain significance (Mar 07, 2024)
17-60046219-T-C		not specified	Uncertain significance (Feb 08, 2025)
17-60046222-C-T		not specified	Uncertain significance (Aug 15, 2023)
17-60047335-T-C		not specified	Uncertain significance (Jul 19, 2023)
17-60047343-C-T		not specified	Uncertain significance (Jul 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HEATR6	protein_coding	protein_coding	ENST00000184956	20	35738

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.18e-21	0.665	125507	0	241	125748	0.000959

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.783	578	633	0.912	0.0000321	7623
Missense in Polyphen		147	165.05	0.89065		2027
Synonymous	1.02	226	246	0.917	0.0000131	2414
Loss of Function	2.12	41	58.5	0.700	0.00000313	679

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00165	0.00165
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000762	0.000761
Finnish	0.000331	0.000323
European (Non-Finnish)	0.00145	0.00138
Middle Eastern	0.000762	0.000761
South Asian	0.000666	0.000653
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Amplification-dependent oncogene.

Recessive Scores

• pRec: 0.0979

Intolerance Scores

• loftool: 0.960
• rvis_EVS: -0.99
• rvis_percentile_EVS: 8.63

Haploinsufficiency Scores

• pHI: 0.292
• hipred: N
• hipred_score: 0.384
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.341

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Heatr6

Gene ontology

• Molecular function: RNA binding