ADAMDEC1

ADAM like decysin 1

Basic information

Region (hg38): 8:24384284-24406013

Links

ENSG00000134028 ∙ NCBI:27299 ∙ OMIM:606393 ∙ HGNC:16299 ∙ Uniprot:O15204 ∙ 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 ADAMDEC1 gene.

• Inborn genetic diseases (19 variants)
• not provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADAMDEC1 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					1	1
missense			18	1	5	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding					1	1
Total	0	0	18	1	7

Variants in ADAMDEC1

This is a list of pathogenic ClinVar variants found in the ADAMDEC1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-24384536-T-C		not specified	Uncertain significance (Mar 27, 2023)
8-24384538-G-A		not specified	Uncertain significance (Nov 30, 2022)
8-24392292-C-T			Benign (Apr 04, 2018)
8-24392304-T-C		not specified	Uncertain significance (May 03, 2023)
8-24392304-T-G			Benign (Jan 12, 2018)
8-24392361-C-T		not specified	Uncertain significance (Feb 14, 2023)
8-24392372-G-A		not specified	Uncertain significance (Jun 13, 2023)
8-24393296-T-C			Benign (Dec 28, 2017)
8-24394070-C-A		not specified	Uncertain significance (Jul 12, 2022)
8-24394101-T-C		not specified	Uncertain significance (Nov 13, 2023)
8-24394146-T-C			Benign (Dec 28, 2017)
8-24395777-A-G		not specified	Uncertain significance (Oct 20, 2021)
8-24395789-G-A		not specified	Uncertain significance (May 15, 2023)
8-24397334-G-A		not specified	Uncertain significance (Dec 04, 2023)
8-24397341-C-A		not specified	Uncertain significance (May 11, 2022)
8-24397343-G-T		not specified	Uncertain significance (Sep 12, 2023)
8-24397383-A-G		not specified	Uncertain significance (Jan 26, 2022)
8-24397404-C-T		not specified	Uncertain significance (Feb 26, 2024)
8-24397409-G-A		not specified	Likely benign (Mar 02, 2023)
8-24397698-C-T		not specified	Uncertain significance (Jun 07, 2023)
8-24398522-G-A		not specified	Uncertain significance (Jan 03, 2024)
8-24398535-T-C		not specified	Uncertain significance (Oct 25, 2022)
8-24398561-T-C			Benign (Apr 04, 2018)
8-24398876-A-T			Benign (Dec 28, 2017)
8-24398944-A-G		not specified	Uncertain significance (Jun 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADAMDEC1	protein_coding	protein_coding	ENST00000256412	14	21729

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.63e-16	0.0205	125638	0	104	125742	0.000414

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0854	254	250	1.02	0.0000125	3091
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00233	0.00232
Ashkenazi Jewish	0.00	0.00
East Asian	0.000165	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000363	0.000360
Middle Eastern	0.000165	0.000163
South Asian	0.000366	0.000359
Other	0.000163	0.000163

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.113
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.187

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adamdec1

Gene ontology

• Biological process: proteolysis;immune response;negative regulation of cell adhesion
• Cellular component: cellular_component;extracellular region
• Molecular function: metalloendopeptidase activity;zinc ion binding