HAUS6

HAUS augmin like complex subunit 6, the group of Small nucleolar RNA protein coding host genes|HAUS augmin like complex

Basic information

Region (hg38): 9:19053141-19102904

Previous symbols: [ "FAM29A" ]

Links

ENSG00000147874 ∙ NCBI:54801 ∙ OMIM:613433 ∙ HGNC:25948 ∙ Uniprot:Q7Z4H7 ∙ 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 HAUS6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS6 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			87	6		93
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	87	6	0

Variants in HAUS6

This is a list of pathogenic ClinVar variants found in the HAUS6 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-19056387-T-C		not specified	Uncertain significance (Mar 08, 2025)
9-19056400-T-G		not specified	Uncertain significance (Feb 28, 2024)
9-19057993-G-A		not specified	Uncertain significance (May 23, 2023)
9-19058051-A-G		not specified	Uncertain significance (Jul 20, 2021)
9-19058054-G-A		not specified	Uncertain significance (Nov 26, 2024)
9-19058074-G-A		not specified	Likely benign (Feb 23, 2023)
9-19058077-C-T		not specified	Uncertain significance (May 05, 2023)
9-19058078-G-A		not specified	Uncertain significance (May 08, 2023)
9-19058116-G-A		not specified	Uncertain significance (May 24, 2024)
9-19058156-G-C		not specified	Uncertain significance (Jul 21, 2024)
9-19058194-G-A		not specified	Uncertain significance (Nov 14, 2024)
9-19058206-G-A		not specified	Uncertain significance (Dec 06, 2023)
9-19058252-C-A		not specified	Uncertain significance (Sep 22, 2023)
9-19058266-C-T		not specified	Uncertain significance (Oct 20, 2021)
9-19058297-G-C		not specified	Uncertain significance (May 18, 2022)
9-19058299-G-A		not specified	Uncertain significance (Feb 13, 2024)
9-19058318-C-T		not specified	Uncertain significance (Jun 30, 2024)
9-19058329-A-G		not specified	Likely benign (Aug 13, 2021)
9-19058348-T-C		not specified	Likely benign (May 23, 2024)
9-19058348-T-G		not specified	Uncertain significance (Aug 09, 2021)
9-19058398-T-C		not specified	Uncertain significance (Oct 29, 2024)
9-19058413-C-A		not specified	Uncertain significance (Oct 12, 2024)
9-19058422-T-C		not specified	Uncertain significance (Dec 13, 2021)
9-19058425-G-A		not specified	Uncertain significance (Jan 16, 2024)
9-19058426-G-C		not specified	Uncertain significance (Feb 27, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS6	protein_coding	protein_coding	ENST00000380502	17	49977

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.42e-17	0.536	125704	0	43	125747	0.000171

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-2.18	606	473	1.28	0.0000230	6311
Missense in Polyphen		145	121.73	1.1911		1741
Synonymous	-2.60	212	169	1.25	0.00000880	1711
Loss of Function	1.75	32	44.6	0.717	0.00000215	617

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000957	0.0000951
Ashkenazi Jewish	0.0000994	0.0000992
East Asian	0.000223	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000284	0.000281
Middle Eastern	0.000223	0.000217
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Contributes to mitotic spindle assembly, maintenance of centrosome integrity and completion of cytokinesis as part of the HAUS augmin-like complex. Promotes the nucleation of microtubules from the spindle through recruitment of NEDD1 and gamma-tubulin. {ECO:0000269|PubMed:19029337, ECO:0000269|PubMed:19369198, ECO:0000269|PubMed:19427217}.
• Pathway: Regulation of PLK1 Activity at G2/M Transition;Recruitment of mitotic centrosome proteins and complexes;Loss of Nlp from mitotic centrosomes;Loss of proteins required for interphase microtubule organization from the centrosome;Centrosome maturation;AURKA Activation by TPX2;G2/M Transition;Mitotic G2-G2/M phases;Recruitment of NuMA to mitotic centrosomes;Mitotic Prometaphase;M Phase;Cell Cycle;Cell Cycle, Mitotic;Anchoring of the basal body to the plasma membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.0768

Intolerance Scores

• loftool: 0.942
• rvis_EVS: 1.03
• rvis_percentile_EVS: 91.12

Haploinsufficiency Scores

• pHI: 0.373
• hipred: N
• hipred_score: 0.317
• ghis: 0.575

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.287

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus6
• Phenotype: embryo phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype

Gene ontology

• Biological process: G2/M transition of mitotic cell cycle;centrosome cycle;regulation of G2/M transition of mitotic cell cycle;spindle assembly;cell division;ciliary basal body-plasma membrane docking
• Cellular component: centrosome;microtubule organizing center;spindle;cytosol;microtubule;nuclear speck;HAUS complex
• Molecular function: molecular_function;protein binding