CUEDC1

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						0
missense			1 clinvar			1
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	4	0	0	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 65 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001271875.2	RefSeq	NP_001258804.1	9	MANE Select
ENST00000577830.6	Ensembl	ENSP00000462717.1	9	MANE Select
NM_001292025.2	RefSeq	NP_001278954.1	9	Standard
ENST00000360238.6	Ensembl	ENSP00000353373.2	9	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000577830
Coding exons: 9
Length: 94081
Individuals with no LoFs: 125615
Homozygous LoFs: 1
Heterozygous LoFs: 131
Defined: 125747
p: 0.000525

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.12	206	256	0.804	0.0000172	2504
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000076	0.000062	rare
Latino/Admixed American	0.00013	0.00012	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.0013	0.0013	notable
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00044	0.00040	rare
South Asian	0.0019	0.0018	notable
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.707
RVIS EVS: -0.27
RVIS percentile EVS: 34.71

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.864

Gene Damage Prediction

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