CUTA

cutA divalent cation tolerance homolog

Basic information

Region (hg38): 6:33416442-33418317

Previous symbols: [ "C6orf82", "ACHAP" ]

Links

ENSG00000112514 ∙ NCBI:51596 ∙ OMIM:616953 ∙ HGNC:21101 ∙ Uniprot:O60888 ∙ 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 CUTA gene.

• not_specified (22 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CUTA gene is commonly pathogenic or not. These statistics are base on transcript: NM_001014840.2. 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				1		1
missense			23			23
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)			4			4
Total	0	0	28	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CUTA	protein_coding	protein_coding	ENST00000374500	6	1876

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.08e-7	0.186	125514	1	232	125747	0.000927

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0521	112	114	0.986	0.00000531	1243
Missense in Polyphen		35	38.637	0.90586		421
Synonymous	1.02	41	50.2	0.817	0.00000252	444
Loss of Function	0.0166	10	10.1	0.994	4.33e-7	106

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000796	0.000796
Ashkenazi Jewish	0.00	0.00
East Asian	0.000272	0.000272
Finnish	0.000186	0.000185
European (Non-Finnish)	0.00169	0.00168
Middle Eastern	0.000272	0.000272
South Asian	0.000196	0.000196
Other	0.000654	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May form part of a complex of membrane proteins attached to acetylcholinesterase (AChE).

Recessive Scores

• pRec: 0.235

Intolerance Scores

• loftool: 0.163
• rvis_EVS: 1.13
• rvis_percentile_EVS: 92.16

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.170
• ghis: 0.525

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.282

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cuta

Gene ontology

• Biological process: protein localization;response to metal ion
• Cellular component: membrane;extracellular exosome
• Molecular function: copper ion binding;protein binding;enzyme binding