HAUS1

HAUS augmin like complex subunit 1, the group of HAUS augmin like complex

Basic information

Region (hg38): 18:46104377-46128333

Previous symbols: [ "CCDC5" ]

Links

ENSG00000152240 ∙ NCBI:115106 ∙ OMIM:608775 ∙ HGNC:25174 ∙ Uniprot:Q96CS2 ∙ 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 HAUS1 gene.

• Inborn genetic diseases (16 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS1 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	0	1

Variants in HAUS1

This is a list of pathogenic ClinVar variants found in the HAUS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
18-46105213-A-C		not specified	Uncertain significance (Jul 06, 2021)
18-46105226-T-C			Benign (Mar 30, 2018)
18-46105233-A-G		not specified	Uncertain significance (Dec 07, 2021)
18-46105291-G-A		not specified	Uncertain significance (Jun 28, 2022)
18-46105303-G-A		not specified	Uncertain significance (Jul 20, 2021)
18-46105332-G-T		not specified	Uncertain significance (Feb 17, 2024)
18-46118247-G-A		not specified	Uncertain significance (Jan 04, 2022)
18-46118261-A-C		not specified	Uncertain significance (May 03, 2023)
18-46119976-C-A		not specified	Uncertain significance (Feb 03, 2022)
18-46119983-T-G		not specified	Uncertain significance (Feb 22, 2023)
18-46122519-A-C		not specified	Uncertain significance (Mar 01, 2024)
18-46122523-G-A		not specified	Uncertain significance (Dec 17, 2021)
18-46122534-A-G		not specified	Uncertain significance (May 17, 2023)
18-46123344-T-A		not specified	Uncertain significance (May 17, 2023)
18-46124865-A-C		not specified	Uncertain significance (Jun 24, 2022)
18-46124873-T-C		not specified	Uncertain significance (Sep 16, 2021)
18-46125768-A-G		not specified	Uncertain significance (Mar 07, 2023)
18-46125784-G-A		not specified	Uncertain significance (Jun 18, 2021)
18-46128093-C-G		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS1	protein_coding	protein_coding	ENST00000282058	9	24002

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.55e-8	0.341	125632	0	114	125746	0.000453

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0603	144	142	1.01	0.00000727	1808
Missense in Polyphen		33	34.93	0.94474		502
Synonymous	-0.375	53	49.6	1.07	0.00000248	510
Loss of Function	0.670	13	15.9	0.818	7.42e-7	220

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000754	0.000751
Ashkenazi Jewish	0.000717	0.000695
East Asian	0.000437	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.000681	0.000668
Middle Eastern	0.000437	0.000435
South Asian	0.0000656	0.0000653
Other	0.000336	0.000326

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:15082789, 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: 0.114

Intolerance Scores

• loftool: 0.324
• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.38

Haploinsufficiency Scores

• pHI: 0.760
• hipred: Y
• hipred_score: 0.637
• ghis: 0.560

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.542

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus1

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