CLUH

clustered mitochondria homolog, the group of MicroRNA protein coding host genes

Basic information

Region (hg38): 17:2689386-2712663

Previous symbols: [ "KIAA0664" ]

Links

ENSG00000132361 ∙ NCBI:23277 ∙ OMIM:616184 ∙ HGNC:29094 ∙ Uniprot:O75153 ∙ 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 CLUH gene.

• not_specified (181 variants)
• not_provided (12 variants)
• Hirschsprung_disease,_susceptibility_to,_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CLUH gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366661.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				5	3	8
missense			177	4		181
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	178	9	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CLUH	protein_coding	protein_coding	ENST00000570628	25	23278

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00526	124594	0	26	124620	0.000104

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.84	698	849	0.822	0.0000589	8412
Missense in Polyphen		148	295.12	0.50149		2751
Synonymous	-3.86	494	396	1.25	0.0000325	2565
Loss of Function	5.96	10	59.7	0.168	0.00000318	652

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000702	0.000439
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000620	0.0000556
Finnish	0.0000932	0.0000928
European (Non-Finnish)	0.000140	0.000133
Middle Eastern	0.0000620	0.0000556
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: mRNA-binding protein involved in proper cytoplasmic distribution of mitochondria. Specifically binds mRNAs of nuclear- encoded mitochondrial proteins in the cytoplasm and regulates transport or translation of these transcripts close to mitochondria, playing a role in mitochondrial biogenesis. {ECO:0000255|HAMAP-Rule:MF_03013, ECO:0000269|PubMed:25349259}.
• Pathway: Translation Factors (Consensus)

Recessive Scores

• pRec: 0.110

Intolerance Scores

• rvis_EVS: -2.23
• rvis_percentile_EVS: 1.33

Haploinsufficiency Scores

• pHI: 0.281
• hipred: Y
• hipred_score: 0.740
• ghis: 0.598

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cluh
• Phenotype: growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism 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); embryo phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: mitochondrion organization;intracellular distribution of mitochondria
• Cellular component: cytoplasm
• Molecular function: mRNA binding