HAUS7

HAUS augmin like complex subunit 7, the group of HAUS augmin like complex

Basic information

Region (hg38): X:153447668-153495516

Previous symbols: [ "UCHL5IP" ]

Links

ENSG00000213397 ∙ NCBI:55559 ∙ OMIM:300540 ∙ HGNC:32979 ∙ Uniprot:Q99871 ∙ 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 HAUS7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HAUS7 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				4	2	6
missense			31	7	1	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				4	3	7
non coding			1			1
Total	0	0	32	11	3

Variants in HAUS7

This is a list of pathogenic ClinVar variants found in the HAUS7 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-153447902-C-G		not specified	Uncertain significance (Dec 28, 2022)
X-153447916-A-G			Benign (Sep 19, 2018)
X-153454421-C-T		not specified	Uncertain significance (Jan 03, 2024)
X-153454430-T-G		not specified	Uncertain significance (May 16, 2024)
X-153454436-C-T		not specified	Uncertain significance (Dec 14, 2023)
X-153454438-C-A		not specified	Uncertain significance (May 15, 2024)
X-153454463-C-T		not specified	Uncertain significance (Sep 30, 2024)
X-153454470-C-T			Likely benign (Jun 01, 2022)
X-153454471-G-A		not specified	Likely benign (Dec 19, 2022)
X-153454511-GGGGAGGGA-G			Benign (Dec 31, 2019)
X-153454511-GGGGAGGGAGGGA-G			Likely benign (Dec 31, 2019)
X-153454511-G-GGGGA			Likely benign (Oct 31, 2019)
X-153454511-G-GGGGAGGGA			Likely benign (May 18, 2018)
X-153454511-G-GGGGAGGGAGGGA			Benign (Jan 03, 2019)
X-153455568-G-A		not specified	Likely benign (Nov 10, 2023)
X-153455570-G-A		not specified	Uncertain significance (Jul 13, 2021)
X-153455571-T-A		not specified	Uncertain significance (Jul 13, 2021)
X-153455583-T-C		not specified	Uncertain significance (Oct 06, 2024)
X-153455615-C-T		not specified	Uncertain significance (Apr 10, 2023)
X-153455628-C-T		not specified	Uncertain significance (May 24, 2023)
X-153455638-G-A			Likely benign (Dec 20, 2018)
X-153455667-T-C		not specified	Likely benign (Jun 29, 2023)
X-153455675-T-A		not specified	Uncertain significance (Oct 12, 2024)
X-153455730-C-T			Likely benign (Jun 28, 2018)
X-153456269-G-A		not specified	Uncertain significance (Oct 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HAUS7	protein_coding	protein_coding	ENST00000370211	10	47855

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.989	0.0109	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.376	139	152	0.914	0.0000125	2410
Missense in Polyphen		29	39.046	0.74272		709
Synonymous	-0.609	79	72.4	1.09	0.00000672	688
Loss of Function	3.42	0	13.6	0.00	8.63e-7	231

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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: 0.349
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.22

Haploinsufficiency Scores

• pHI: 0.0821
• hipred: N
• hipred_score: 0.314
• ghis: 0.524

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.578

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Haus7

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: protein binding;thioesterase binding