EML3

EMAP like 3, the group of WD repeat domain containing|EMAP like

Basic information

Region (hg38): 11:62602217-62612775

Links

ENSG00000149499 ∙ NCBI:256364 ∙ OMIM:618118 ∙ HGNC:26666 ∙ Uniprot:Q32P44 ∙ 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 EML3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EML3 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			43	1		44
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	45	1	0

Variants in EML3

This is a list of pathogenic ClinVar variants found in the EML3 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-62602481-G-T		not specified	Uncertain significance (May 15, 2024)
11-62602521-G-A		not specified	Uncertain significance (Aug 04, 2021)
11-62602549-C-T		not specified	Uncertain significance (Mar 18, 2024)
11-62602619-G-C		not specified	Uncertain significance (Mar 06, 2023)
11-62602665-A-C		not specified	Uncertain significance (Oct 26, 2022)
11-62602835-T-C		not specified	Uncertain significance (Aug 10, 2023)
11-62603242-C-T		not specified	Uncertain significance (Jun 06, 2023)
11-62604020-C-A		not specified	Uncertain significance (Dec 13, 2023)
11-62604021-C-A		not specified	Uncertain significance (Dec 13, 2023)
11-62604034-C-A		not specified	Uncertain significance (Aug 16, 2021)
11-62605132-C-T		not specified	Uncertain significance (Jun 05, 2024)
11-62605156-G-A		not specified	Uncertain significance (May 13, 2024)
11-62605653-T-G		not specified	Uncertain significance (Sep 13, 2023)
11-62605701-G-A		not specified	Uncertain significance (Jan 18, 2023)
11-62605736-G-A		not specified	Uncertain significance (Feb 13, 2024)
11-62605950-T-C		not specified	Uncertain significance (Apr 25, 2023)
11-62605958-A-G		not specified	Uncertain significance (Sep 16, 2021)
11-62605959-C-T		not specified	Uncertain significance (Dec 12, 2023)
11-62606100-T-C		not specified	Uncertain significance (Mar 27, 2023)
11-62606109-C-T		not specified	Uncertain significance (Mar 04, 2024)
11-62606967-C-T		not specified	Uncertain significance (Apr 25, 2022)
11-62606969-C-A		not specified	Uncertain significance (Apr 23, 2024)
11-62606985-T-C		not specified	Uncertain significance (Apr 20, 2023)
11-62607046-G-C		not specified	Uncertain significance (Apr 23, 2024)
11-62607056-G-A		not specified	Uncertain significance (Mar 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EML3	protein_coding	protein_coding	ENST00000394773	22	10548

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000375	1.00	125701	0	47	125748	0.000187

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.30	398	550	0.724	0.0000337	5686
Missense in Polyphen		141	258.79	0.54484		2656
Synonymous	1.46	195	223	0.875	0.0000134	1927
Loss of Function	3.97	18	47.5	0.379	0.00000251	501

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000131	0.000120
Ashkenazi Jewish	0.000315	0.000298
East Asian	0.000163	0.000109
Finnish	0.000403	0.000370
European (Non-Finnish)	0.000238	0.000229
Middle Eastern	0.000163	0.000109
South Asian	0.000131	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May modify the assembly dynamics of microtubules, such that microtubules are slightly longer, but more dynamic. {ECO:0000250}.

Recessive Scores

• pRec: 0.0994

Intolerance Scores

• loftool: 0.549
• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.28

Haploinsufficiency Scores

• pHI: 0.257
• hipred: Y
• hipred_score: 0.520
• ghis: 0.620

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.473

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eml3

Gene ontology

• Biological process: microtubule cytoskeleton organization
• Cellular component: cytoplasm;microtubule;microtubule cytoskeleton
• Molecular function: microtubule binding