ELAVL2

ELAV like RNA binding protein 2, the group of RNA binding motif containing

Basic information

Region (hg38): 9:23690103-23826337

Links

ENSG00000107105 ∙ NCBI:1993 ∙ OMIM:601673 ∙ HGNC:3313 ∙ Uniprot:Q12926 ∙ 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 ELAVL2 gene.

• Inborn genetic diseases (10 variants)
• not provided (1 variants)
• ELAVL2-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELAVL2 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			11			11
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in ELAVL2

This is a list of pathogenic ClinVar variants found in the ELAVL2 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-23692805-T-C		not specified	Uncertain significance (Jan 17, 2024)
9-23692846-G-A		not specified	Uncertain significance (Dec 21, 2023)
9-23701401-C-T		not specified	Uncertain significance (Nov 05, 2021)
9-23701406-G-T		not specified	Uncertain significance (Nov 15, 2021)
9-23701415-T-C		not specified	Uncertain significance (Jan 31, 2022)
9-23701425-T-C		not specified	Uncertain significance (Sep 22, 2023)
9-23701435-G-C			Uncertain significance (May 01, 2019)
9-23701449-G-A		not specified	Uncertain significance (Feb 02, 2022)
9-23701484-G-C		not specified	Uncertain significance (Nov 08, 2022)
9-23701521-G-T		not specified	Uncertain significance (Jun 21, 2022)
9-23731093-T-C		not specified	Uncertain significance (Sep 07, 2022)
9-23762045-C-CA		Global developmental delay	Uncertain significance (Jan 01, 2020)
9-23762099-G-C		not specified	Uncertain significance (May 05, 2023)
9-23762129-C-T		ELAVL2-related disorder	Uncertain significance (Dec 08, 2022)
9-23762158-G-A		not specified	Uncertain significance (Jun 11, 2021)
9-23762188-T-C		not specified	Uncertain significance (Jan 11, 2023)
9-23762227-G-A		not specified	Uncertain significance (Jun 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELAVL2	protein_coding	protein_coding	ENST00000397312	6	136234

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.995	0.00486	125658	0	1	125659	0.00000398

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.29	150	202	0.744	0.0000107	2362
Missense in Polyphen		22	63.38	0.34711		773
Synonymous	-2.73	102	72.4	1.41	0.00000403	702
Loss of Function	3.68	0	15.8	0.00	8.21e-7	183

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)	0.00000880	0.00000880
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds RNA. Seems to recognize a GAAA motif. Can bind to its own 3'-UTR, the FOS 3'-UTR and the ID 3'-UTR.
• Pathway: Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.270

Intolerance Scores

• rvis_EVS: -0.41
• rvis_percentile_EVS: 26.23

Haploinsufficiency Scores

• pHI: 0.614
• hipred: Y
• hipred_score: 0.837
• ghis: 0.644

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.995

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Elavl2

Gene ontology

• Biological process: mRNA splicing, via spliceosome;regulation of transcription, DNA-templated
• Cellular component: nucleoplasm
• Molecular function: RNA binding;mRNA 3'-UTR binding;protein binding