HAUS4

HAUS augmin like complex subunit 4, the group of MicroRNA protein coding host genes|HAUS augmin like complex

Basic information

Region (hg38): 14:22946228-22957161

Previous symbols: [ "C14orf94" ]

Links

ENSG00000092036 ∙ NCBI:54930 ∙ OMIM:613431 ∙ HGNC:20163 ∙ Uniprot:Q9H6D7 ∙ 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 HAUS4 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS4 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			21	2	1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	2	1

Variants in HAUS4

This is a list of pathogenic ClinVar variants found in the HAUS4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-22946530-G-A		not specified	Uncertain significance (Jan 28, 2025)
14-22946568-T-C		not specified	Uncertain significance (Jan 24, 2025)
14-22946569-T-G		not specified	Uncertain significance (Oct 04, 2022)
14-22946641-A-C		not specified	Uncertain significance (Dec 19, 2023)
14-22946703-C-T		not specified	Uncertain significance (Feb 16, 2023)
14-22947180-C-T		not specified	Uncertain significance (Apr 12, 2024)
14-22947205-T-C		not specified	Uncertain significance (Feb 14, 2025)
14-22947211-T-A		not specified	Uncertain significance (Jun 09, 2022)
14-22947214-C-T		not specified	Uncertain significance (Jun 26, 2024)
14-22947912-C-T		not specified	Uncertain significance (Jun 05, 2023)
14-22947963-C-A		not specified	Uncertain significance (Jul 26, 2024)
14-22947996-C-T		not specified	Uncertain significance (Jun 04, 2024)
14-22948007-T-G		not specified	Uncertain significance (Jan 31, 2023)
14-22950328-T-C			Benign (May 24, 2018)
14-22950343-G-A		not specified	Uncertain significance (Sep 17, 2021)
14-22950399-C-G		not specified	Uncertain significance (Dec 01, 2023)
14-22951581-G-A		not specified	Uncertain significance (Mar 07, 2025)
14-22951586-G-A		not specified	Uncertain significance (Oct 17, 2023)
14-22951598-C-T		not specified	Uncertain significance (Aug 21, 2024)
14-22951625-T-C		not specified	Uncertain significance (Nov 23, 2024)
14-22951628-C-T		not specified	Uncertain significance (Dec 01, 2022)
14-22951683-C-T		not specified	Uncertain significance (May 30, 2024)
14-22952348-C-A		not specified	Likely benign (Aug 21, 2023)
14-22952359-T-C		not specified	Uncertain significance (Jul 03, 2024)
14-22952392-T-G		not specified	Uncertain significance (Mar 25, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS4	protein_coding	protein_coding	ENST00000206474	9	10934

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0180	0.981	125714	0	32	125746	0.000127

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.809	165	197	0.838	0.0000108	2373
Missense in Polyphen		40	51.957	0.76987		702
Synonymous	1.42	60	75.7	0.793	0.00000393	678
Loss of Function	2.93	7	21.7	0.322	9.88e-7	255

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000489	0.000489
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000151	0.000149
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
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: 0.103
• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.414
• hipred: Y
• hipred_score: 0.633
• ghis: 0.572

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0107

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus4

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