HAUS3

HAUS augmin like complex subunit 3, the group of HAUS augmin like complex

Basic information

Region (hg38): 4:2227463-2242133

Previous symbols: [ "C4orf15" ]

Links

ENSG00000214367 ∙ NCBI:79441 ∙ OMIM:613430 ∙ HGNC:28719 ∙ Uniprot:Q68CZ6 ∙ 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 HAUS3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS3 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			32			32
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4			4
Total	0	0	36	0	0

Variants in HAUS3

This is a list of pathogenic ClinVar variants found in the HAUS3 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-2229104-G-A		not specified	Uncertain significance (Aug 15, 2023)
4-2229117-A-G		not specified	Uncertain significance (Feb 15, 2023)
4-2229137-T-A		not specified	Uncertain significance (Jun 24, 2022)
4-2229140-C-T		not specified	Uncertain significance (Jun 22, 2021)
4-2231979-A-G		not specified	Uncertain significance (Feb 27, 2023)
4-2231980-C-T		not specified	Uncertain significance (Jul 12, 2022)
4-2232060-A-G			Uncertain significance (Oct 14, 2022)
4-2232061-A-C		not specified	Uncertain significance (Dec 08, 2023)
4-2236253-C-T		not specified	Uncertain significance (Aug 17, 2022)
4-2236293-T-C		not specified	Uncertain significance (May 17, 2023)
4-2236312-G-T		not specified	Uncertain significance (Sep 26, 2023)
4-2236437-C-T		not specified	Uncertain significance (Mar 23, 2022)
4-2238620-C-T		not specified	Uncertain significance (Jun 24, 2022)
4-2238634-G-T		not specified	Uncertain significance (Jun 17, 2024)
4-2238650-T-C		not specified	Uncertain significance (Apr 12, 2022)
4-2238678-C-T		not specified	Likely benign (Mar 31, 2024)
4-2238703-A-C		not specified	Uncertain significance (Dec 13, 2021)
4-2238724-T-C		not specified	Uncertain significance (Dec 16, 2022)
4-2238745-C-A		not specified	Uncertain significance (May 09, 2023)
4-2238950-T-C		not specified	Uncertain significance (Jul 15, 2021)
4-2239007-T-C		not specified	Uncertain significance (Feb 11, 2022)
4-2239009-G-C		not specified	Uncertain significance (Nov 28, 2023)
4-2239013-T-A		not specified	Uncertain significance (Oct 04, 2022)
4-2240139-T-C		not specified	Uncertain significance (May 17, 2023)
4-2240150-T-C		not specified	Uncertain significance (Nov 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS3	protein_coding	protein_coding	ENST00000243706	4	14701

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-9	0.565	125515	0	218	125733	0.000867

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.16	344	289	1.19	0.0000136	4005
Missense in Polyphen		54	55.319	0.97616		817
Synonymous	-0.232	111	108	1.03	0.00000524	1063
Loss of Function	1.21	17	23.3	0.729	0.00000108	341

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00164	0.00161
Ashkenazi Jewish	0.00254	0.00248
East Asian	0.000435	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.00111	0.00110
Middle Eastern	0.000435	0.000435
South Asian	0.000660	0.000654
Other	0.00101	0.000978

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)

Recessive Scores

• pRec: 0.0923

Intolerance Scores

• loftool: 0.906
• rvis_EVS: -0.02
• rvis_percentile_EVS: 52.09

Haploinsufficiency Scores

• pHI: 0.0952
• hipred: N
• hipred_score: 0.280
• ghis: 0.573

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.245

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus3
• 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)

Zebrafish Information Network

• Gene name: haus3
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: dead

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: nucleoplasm;mitochondrion;centrosome;cytosol;microtubule;microtubule cytoskeleton;intercellular bridge;HAUS complex;mitotic spindle
• Molecular function: molecular_function;protein binding