CUEDC1

CUE domain containing 1

Basic information

Region (hg38): 17:57861242-57955412

Links

ENSG00000180891 ∙ NCBI:404093 ∙ ∙ HGNC:31350 ∙ Uniprot:Q9NWM3 ∙ 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 CUEDC1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CUEDC1 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						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CUEDC1	protein_coding	protein_coding	ENST00000577830	9	94081

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.63e-8	0.694	125615	1	131	125747	0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	206	256	0.804	0.0000172	2504
Missense in Polyphen		62	91.152	0.68018		877
Synonymous	1.30	96	114	0.844	0.00000896	760
Loss of Function	1.25	14	20.1	0.698	0.00000113	211

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000187
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00128	0.00125
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000441	0.000396
Middle Eastern	0.00128	0.00125
South Asian	0.00189	0.00183
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.707
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.71

Haploinsufficiency Scores

• pHI: 0.221
• hipred: N
• hipred_score: 0.301
• ghis: 0.509

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.864

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cuedc1

Gene ontology

• Molecular function: protein binding