EMILIN3

elastin microfibril interfacer 3, the group of EMI domain containing

Basic information

Region (hg38): 20:41359962-41366818

Previous symbols: [ "C20orf130", "EMILIN5" ]

Links

ENSG00000183798NCBI:90187OMIM:608929HGNC:16123Uniprot:Q9NT22AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EMILIN3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EMILIN3 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
clinvar
1
missense
54
clinvar
4
clinvar
58
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 54 5 0

Variants in EMILIN3

This is a list of pathogenic ClinVar variants found in the EMILIN3 region.

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

Position Type Phenotype Significance ClinVar
20-41361276-C-T not specified Uncertain significance (Dec 08, 2023)3088634
20-41361278-T-G not specified Uncertain significance (Mar 13, 2023)2465606
20-41361287-C-T not specified Uncertain significance (Jan 26, 2022)2360034
20-41361292-C-G not specified Uncertain significance (Apr 29, 2024)3275317
20-41361330-C-G not specified Uncertain significance (Aug 01, 2022)2395590
20-41361371-C-T not specified Uncertain significance (Feb 27, 2023)2464545
20-41361372-G-A not specified Uncertain significance (Apr 05, 2023)2533534
20-41361494-C-A not specified Uncertain significance (Apr 07, 2023)2535194
20-41361494-C-T not specified Uncertain significance (Jun 05, 2023)2510056
20-41361675-C-T not specified Uncertain significance (Sep 26, 2023)3088633
20-41361684-C-T not specified Uncertain significance (Aug 02, 2021)2241103
20-41361731-A-G Likely benign (Feb 01, 2023)2652331
20-41361851-G-A not specified Uncertain significance (Mar 11, 2024)3088632
20-41361876-C-T not specified Uncertain significance (Aug 15, 2023)2618679
20-41361884-T-C not specified Uncertain significance (Aug 29, 2023)2601320
20-41361924-G-A Marfanoid habitus and intellectual disability Uncertain significance (-)689689
20-41361940-C-T Likely benign (Feb 01, 2023)2652332
20-41362070-C-T not specified Uncertain significance (Mar 17, 2023)2509193
20-41362092-C-T not specified Likely benign (Jan 06, 2023)3088630
20-41362130-C-T not specified Uncertain significance (Feb 23, 2023)2466628
20-41362149-C-G not specified Uncertain significance (Jun 02, 2023)2524294
20-41362151-C-T not specified Uncertain significance (May 04, 2022)2393449
20-41362193-C-G not specified Uncertain significance (May 13, 2022)2371528
20-41362197-T-A not specified Uncertain significance (Feb 28, 2024)3088629
20-41362227-C-T not specified Uncertain significance (Oct 02, 2023)3088628

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EMILIN3protein_codingprotein_codingENST00000332312 46862
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000009240.9851256930551257480.000219
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2794244400.9630.00002804803
Missense in Polyphen124127.090.975681373
Synonymous0.4281801870.9600.00001121721
Loss of Function2.201223.50.5100.00000128259

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0007750.000768
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.0001370.0000924
European (Non-Finnish)0.0002410.000237
Middle Eastern0.0002180.000217
South Asian0.0002320.000229
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.0987

Intolerance Scores

loftool
0.725
rvis_EVS
-0.59
rvis_percentile_EVS
18.26

Haploinsufficiency Scores

pHI
0.151
hipred
N
hipred_score
0.322
ghis
0.489

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.567

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Emilin3
Phenotype

Gene ontology

Biological process
positive regulation of cell-substrate adhesion
Cellular component
cytoplasm;extracellular matrix;collagen-containing extracellular matrix
Molecular function
extracellular matrix constituent conferring elasticity