EML6

EMAP like 6, the group of WD repeat domain containing|EMAP like

Basic information

Region (hg38): 2:54723499-54972025

Links

ENSG00000214595 ∙ NCBI:400954 ∙ ∙ HGNC:35412 ∙ Uniprot:Q6ZMW3 ∙ 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 EML6 gene.

• not_specified (284 variants)
• not_provided (14 variants)
• High_myopia (1 variants)
• Keratoconus (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EML6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001039753.4. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				7	4	11
missense		1	283	1		285
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	1	284	8	4

Highest pathogenic variant AF is 0.00018566247

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EML6	protein_coding	protein_coding	ENST00000356458	41	248522

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.09e-9	1.00	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	943	1.04e+3	0.903	0.0000580	12815
Missense in Polyphen		212	322.1	0.65818		3714
Synonymous	-2.73	470	401	1.17	0.0000246	3749
Loss of Function	6.11	34	99.8	0.341	0.00000565	1208

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
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}.

Intolerance Scores

• rvis_EVS: -0.61
• rvis_percentile_EVS: 17.5

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.461
• ghis: 0.514

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.116

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eml6

Gene ontology

• Cellular component: cytoplasm;microtubule;microtubule cytoskeleton
• Molecular function: microtubule binding