HAUS5

HAUS augmin like complex subunit 5, the group of HAUS augmin like complex

Basic information

Region (hg38): 19:35612735-35625355

Previous symbols: [ "KIAA0841" ]

Links

ENSG00000249115 ∙ NCBI:23354 ∙ OMIM:613432 ∙ HGNC:29130 ∙ Uniprot:O94927 ∙ 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 HAUS5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS5 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				1		1
missense			59	7		66
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	59	8	0

Variants in HAUS5

This is a list of pathogenic ClinVar variants found in the HAUS5 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35612840-G-A		not specified	Uncertain significance (Nov 08, 2022)
19-35612865-C-T		not specified	Uncertain significance (Oct 07, 2024)
19-35613734-T-C		not specified	Uncertain significance (Dec 14, 2021)
19-35615045-C-T		not specified	Uncertain significance (Jan 08, 2024)
19-35615073-T-C		not specified	Uncertain significance (Mar 06, 2023)
19-35615079-G-A		not specified	Uncertain significance (Jan 01, 2025)
19-35615085-G-A		not specified	Uncertain significance (Aug 23, 2021)
19-35615108-C-A		not specified	Uncertain significance (Aug 26, 2022)
19-35615117-G-A		not specified	Uncertain significance (Jan 19, 2025)
19-35615124-T-C		not specified	Uncertain significance (Dec 05, 2024)
19-35615130-G-C		not specified	Uncertain significance (May 30, 2024)
19-35615256-A-T		not specified	Uncertain significance (Jan 07, 2025)
19-35615259-C-G		not specified	Uncertain significance (Dec 28, 2024)
19-35615271-C-T		not specified	Uncertain significance (May 08, 2024)
19-35615272-G-A		not specified	Uncertain significance (Oct 08, 2024)
19-35615289-C-T		not specified	Uncertain significance (Mar 06, 2023)
19-35615308-T-C		not specified	Uncertain significance (Feb 20, 2025)
19-35615332-G-A		not specified	Likely benign (Aug 16, 2021)
19-35617174-G-A		not specified	Uncertain significance (Jul 06, 2021)
19-35617185-G-A		not specified	Uncertain significance (Nov 03, 2023)
19-35617188-G-T		not specified	Uncertain significance (Jun 29, 2023)
19-35617287-C-A		not specified	Uncertain significance (Jul 31, 2024)
19-35617293-G-A		not specified	Uncertain significance (Jul 21, 2021)
19-35617297-G-A		not specified	Uncertain significance (Feb 28, 2024)
19-35617314-C-T		not specified	Uncertain significance (Sep 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS5	protein_coding	protein_coding	ENST00000203166	19	12606

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.28e-10	0.999	124768	0	50	124818	0.000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.894	338	388	0.872	0.0000251	3986
Missense in Polyphen		87	109.84	0.79209		1293
Synonymous	0.592	156	166	0.942	0.00000968	1358
Loss of Function	2.99	23	44.6	0.516	0.00000259	411

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000723	0.000706
Ashkenazi Jewish	0.000108	0.0000993
East Asian	0.000223	0.000223
Finnish	0.0000465	0.0000464
European (Non-Finnish)	0.000203	0.000194
Middle Eastern	0.000223	0.000223
South Asian	0.000166	0.000163
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. {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)

Intolerance Scores

• loftool: 0.724
• rvis_EVS: 0.14
• rvis_percentile_EVS: 63.62

Haploinsufficiency Scores

• pHI: 0.125
• hipred: N
• hipred_score: 0.270
• ghis: 0.590

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.345

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus5

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;spindle;cytosol;microtubule;HAUS complex
• Molecular function: molecular_function;protein binding