EML5

EMAP like 5, the group of WD repeat domain containing|EMAP like

Basic information

Region (hg38): 14:88612430-88792953

Links

ENSG00000165521 ∙ NCBI:161436 ∙ OMIM:618119 ∙ HGNC:18197 ∙ Uniprot:Q05BV3 ∙ 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 EML5 gene.

• Inborn genetic diseases (50 variants)
• not provided (5 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EML5 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				2	1	3
missense			49	1	2	52
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	49	3	4

Variants in EML5

This is a list of pathogenic ClinVar variants found in the EML5 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-88615841-T-C		not specified	Uncertain significance (Jan 12, 2024)
14-88616232-T-A		not specified	Uncertain significance (Jan 04, 2024)
14-88618246-G-C		not specified	Uncertain significance (Jun 01, 2023)
14-88618273-A-G		not specified	Uncertain significance (Mar 29, 2022)
14-88618282-T-C		not specified	Uncertain significance (Jun 29, 2023)
14-88618300-T-C		not specified	Uncertain significance (Sep 17, 2021)
14-88618309-C-A		not specified	Uncertain significance (Sep 29, 2023)
14-88618693-A-G		not specified	Uncertain significance (Nov 13, 2023)
14-88618720-A-G		not specified	Uncertain significance (Sep 26, 2022)
14-88618739-C-G		not specified	Uncertain significance (May 23, 2023)
14-88618771-T-C		not specified	Uncertain significance (Nov 12, 2021)
14-88620769-G-T			Benign (May 02, 2018)
14-88620892-G-A		not specified	Uncertain significance (Dec 12, 2023)
14-88620922-A-G		not specified	Uncertain significance (Jan 03, 2024)
14-88620934-T-TA		not specified	Benign (Mar 29, 2016)
14-88621141-G-A		not specified	Uncertain significance (Dec 21, 2023)
14-88621296-C-A		not specified	Uncertain significance (Dec 22, 2023)
14-88622624-G-A		not specified	Uncertain significance (Jul 19, 2023)
14-88622665-C-T		not specified	Uncertain significance (Sep 22, 2023)
14-88625022-T-G		not specified	Uncertain significance (Jan 09, 2024)
14-88625024-G-A		not specified	Uncertain significance (Jul 20, 2022)
14-88625051-G-A		not specified	Uncertain significance (Oct 05, 2023)
14-88625056-G-A			Likely benign (Feb 01, 2023)
14-88625122-G-C		not specified	Uncertain significance (May 31, 2023)
14-88626855-C-T		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EML5	protein_coding	protein_coding	ENST00000554922	44	180322

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.71e-7	1.00	124540	0	101	124641	0.000405

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.90	754	1.01e+3	0.744	0.0000513	12910
Missense in Polyphen		217	355.06	0.61116		4493
Synonymous	1.93	297	342	0.867	0.0000175	3686
Loss of Function	6.55	32	104	0.307	0.00000565	1331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000465	0.000461
Ashkenazi Jewish	0.0000997	0.0000994
East Asian	0.000391	0.000389
Finnish	0.000279	0.000278
European (Non-Finnish)	0.000617	0.000611
Middle Eastern	0.000391	0.000389
South Asian	0.000164	0.000163
Other	0.00	0.00

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: 0.112

Intolerance Scores

• loftool: 0.501
• rvis_EVS: -1.43
• rvis_percentile_EVS: 4.01

Haploinsufficiency Scores

• pHI: 0.286
• hipred: Y
• hipred_score: 0.711
• ghis: 0.580

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.276

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eml5

Gene ontology

• Biological process: biological_process
• Cellular component: cytoplasm;microtubule;microtubule cytoskeleton;extracellular exosome
• Molecular function: molecular_function;catalytic activity;microtubule binding