HEATR9

HEAT repeat containing 9, the group of Armadillo like helical domain containing

Basic information

Region (hg38): 17:35854946-35868891

Previous symbols: [ "C17orf66" ]

Links

ENSG00000270379 ∙ NCBI:256957 ∙ ∙ HGNC:26548 ∙ Uniprot:A2RTY3 ∙ 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 HEATR9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HEATR9 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			25	4		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	4	0

Variants in HEATR9

This is a list of pathogenic ClinVar variants found in the HEATR9 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-35855118-G-A		not specified	Uncertain significance (Nov 07, 2022)
17-35855123-T-C		not specified	Uncertain significance (Dec 19, 2022)
17-35855124-A-G		not specified	Likely benign (Feb 05, 2024)
17-35855145-C-T		not specified	Likely benign (Jun 11, 2021)
17-35855173-C-G		not specified	Uncertain significance (Jul 20, 2021)
17-35855190-C-T		not specified	Likely benign (Dec 17, 2023)
17-35855301-T-C		not specified	Uncertain significance (Jul 13, 2022)
17-35855389-A-G		not specified	Uncertain significance (Sep 17, 2021)
17-35855712-C-A		not specified	Uncertain significance (Aug 13, 2021)
17-35855729-G-A		not specified	Uncertain significance (Nov 02, 2023)
17-35856181-T-C		not specified	Uncertain significance (Jun 22, 2021)
17-35856191-C-G		not specified	Uncertain significance (Oct 26, 2021)
17-35856196-G-A		not specified	Uncertain significance (Feb 15, 2023)
17-35856798-C-T		not specified	Uncertain significance (Feb 15, 2023)
17-35858277-C-T		not specified	Uncertain significance (May 23, 2024)
17-35858290-C-G		not specified	Uncertain significance (Oct 06, 2022)
17-35858306-G-A		not specified	Uncertain significance (Dec 21, 2022)
17-35858895-C-T		not specified	Likely benign (Oct 27, 2023)
17-35858983-C-T		not specified	Uncertain significance (Sep 22, 2022)
17-35863008-A-G		not specified	Uncertain significance (Jan 23, 2024)
17-35863078-C-T		not specified	Uncertain significance (Aug 12, 2021)
17-35863101-C-A		not specified	Uncertain significance (Jun 06, 2023)
17-35863115-A-C		not specified	Uncertain significance (Sep 06, 2022)
17-35863538-C-G		not specified	Uncertain significance (Jul 06, 2021)
17-35864248-C-T		not specified	Uncertain significance (Apr 06, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.43

Haploinsufficiency Scores

• pHI: 0.0558
• hipred: N
• hipred_score: 0.172

Mouse Genome Informatics

• Gene name: Heatr9

Gene ontology

• Biological process: hematopoietic progenitor cell differentiation