HAUS7

protein-coding

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

Gene summary

This gene encodes a subunit of the augmin complex, which regulates centrosome and mitotic spindle integrity, and is necessary for the completion of cytokinesis. The encoded protein was identified by interaction with ubiquitin C-terminal hydrolase 37. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]

Previous symbols:

UCHL5IP

MANE transcript

NM_001385482.1

Inheritance

—

ClinVar variants

U:99B:14

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chrX:153,447,668-153,495,516

External References & Databases

Ensembl (ENSG00000213397)

Transcript & Mutation Effects

hg38 • Region Span ~47.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HAUS7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 46

not providedTotal: 17

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001385482.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			7 clinvar	4 clinvar	2 clinvar	13
missense			70 clinvar	7 clinvar	1 clinvar	78
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			19 clinvar			19
Total	0	0	99	11	3	113

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001385482.1	RefSeq	NP_001372411.1	10	MANE Select
ENST00000370211.10	Ensembl	ENSP00000359230.6	10	MANE Select
NM_001385481.1	RefSeq	NP_001372410.1	11	Standard
NM_001385483.1	RefSeq	NP_001372412.1	11	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

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

Biological Process

G2/M transition of mitotic cell cycle
centrosome cycle
regulation of G2/M transition of mitotic cell cycle
spindle assembly
cell division

Molecular Function

protein binding
thioesterase binding

Cellular Component

centrosome
spindle
cytosol
microtubule
HAUS complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000370211
Coding exons: 10
Length: 47855
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.376	139	152	0.914	0.0000125	2410
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Intolerance Scores

LoFtool: 0.349
RVIS EVS: -0.05
RVIS percentile EVS: 50.22

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.578

Gene Damage Prediction

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