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.

• not_specified (155 variants)

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. These statistics are base on transcript: NM_000022070.5. 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						0
missense			151	4		155
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	151	4	0

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