EML5

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar	2 clinvar	1 clinvar	4
missense			231 clinvar	4 clinvar	2 clinvar	237
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	236	6	3	245

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_183387.3	RefSeq	NP_899243.1	44	MANE Select
ENST00000554922.6	Ensembl	ENSP00000451998.1	44	MANE Select
NM_001385116.1	RefSeq	NP_001372045.1	43	Standard
NM_001385117.1	RefSeq	NP_001372046.1	22	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process

Molecular Function

molecular_function
catalytic activity
microtubule binding

Cellular Component

cytoplasm
microtubule
microtubule cytoskeleton
extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000554922
Coding exons: 44
Length: 180322
Individuals with no LoFs: 124540
Homozygous LoFs: 0
Heterozygous LoFs: 101
Defined: 124641
p: 0.000405

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.90	754	1.01e+3	0.744	0.0000513	12910
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00033	0.00032	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00039	0.00039	rare
Finnish	0.00028	0.00028	rare
European (Non-Finnish)	0.00062	0.00061	rare
South Asian	0.00016	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

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

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.276

Gene Damage Prediction

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