ADAMDEC1

protein-coding

ADAM like decysin 1

Gene summary

This encoded protein is thought to be a secreted protein belonging to the disintegrin metalloproteinase family. Its expression is upregulated during dendritic cells maturation. This protein may play an important role in dendritic cell function and their interactions with germinal center T cells. [provided by RefSeq, Jul 2008]

MANE transcript

NM_014479.3

Inheritance

—

ClinVar variants

U:70B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.92

Max pathogenic AF

—

Genomic locus

chr8:24,384,285-24,406,013

External References & Databases

Ensembl (ENSG00000134028)

Transcript & Mutation Effects

hg38 • Region Span ~21.7 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 ADAMDEC1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_014479.3. 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				1 clinvar	3 clinvar	4
missense			64 clinvar	3 clinvar	5 clinvar	72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	70	4	8	82

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 8 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_014479.3	RefSeq	NP_055294.1	14	MANE Select
ENST00000256412.8	Ensembl	ENSP00000256412.4	14	MANE Select
NM_001145271.2	RefSeq	NP_001138743.1	12	Standard
NM_001145272.2	RefSeq	NP_001138744.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis
immune response
negative regulation of cell adhesion

Molecular Function

metalloendopeptidase activity
zinc ion binding

Cellular Component

cellular_component
extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256412
Coding exons: 14
Length: 21729
Individuals with no LoFs: 125638
Homozygous LoFs: 0
Heterozygous LoFs: 104
Defined: 125742
p: 0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0854	254	250	1.02	0.0000125	3091
Missense (PolyPhen)		80	87.424	0.91508		1107
Synonymous	-0.362	95	90.6	1.05	0.00000492	866
Loss of Function	0.377	25	27.1	0.922	0.00000138	333

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0017	0.0017	notable
Latino/Admixed American	0.00059	0.00058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00016	0.00016	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00036	0.00036	rare
South Asian	0.00037	0.00036	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play an important role in the control of the immune response and during pregnancy. {ECO:0000250}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.977
RVIS EVS: 1.4
RVIS percentile EVS: 94.72

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.187

Gene Damage Prediction

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