ELAVL4

ELAV like RNA binding protein 4, the group of RNA binding motif containing

Basic information

Region (hg38): 1:50024028-50203772

Previous symbols: [ "HUD" ]

Links

ENSG00000162374 ∙ NCBI:1996 ∙ OMIM:168360 ∙ HGNC:3315 ∙ Uniprot:P26378 ∙ 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 ELAVL4 gene.

• Inborn genetic diseases (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ELAVL4 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	0

Variants in ELAVL4

This is a list of pathogenic ClinVar variants found in the ELAVL4 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-50145015-G-A		not specified	Uncertain significance (Sep 29, 2022)
1-50145036-A-G		not specified	Uncertain significance (Mar 17, 2023)
1-50145041-C-T		not specified	Uncertain significance (Jan 23, 2023)
1-50145095-G-A		High myopia	Uncertain significance (Dec 17, 2018)
1-50177095-G-A		not specified	Uncertain significance (Dec 21, 2023)
1-50177125-A-G		not specified	Uncertain significance (Aug 01, 2022)
1-50193868-C-T		not specified	Uncertain significance (Jan 20, 2023)
1-50195592-T-G			Uncertain significance (Jun 02, 2021)
1-50195650-G-A		not specified	Uncertain significance (Feb 05, 2024)
1-50195669-C-A		not specified	Uncertain significance (Dec 02, 2022)
1-50195744-G-A		not specified	Uncertain significance (Jun 11, 2021)
1-50200868-T-C		not specified	Uncertain significance (Mar 02, 2023)
1-50201120-G-A		not specified	Uncertain significance (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ELAVL4	protein_coding	protein_coding	ENST00000357083	7	155773

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.908	0.0919	125713	0	2	125715	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.85	102	222	0.460	0.0000122	2532
Missense in Polyphen		10	62.814	0.1592		748
Synonymous	0.235	83	85.8	0.968	0.00000510	736
Loss of Function	3.31	2	16.5	0.121	7.98e-7	202

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000291	0.0000291
Ashkenazi Jewish	0.000100	0.0000993
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 play a role in neuron-specific RNA processing. Protects CDKN1A mRNA from decay by binding to its 3'-UTR (By similarity). Binds to AU-rich sequences (AREs) of target mRNAs, including VEGF and FOS mRNA. {ECO:0000250, ECO:0000269|PubMed:10710437, ECO:0000269|PubMed:7898713}.

Recessive Scores

• pRec: 0.151

Intolerance Scores

• loftool: 0.122
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.689
• hipred: Y
• hipred_score: 0.783
• ghis: 0.620

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.739

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Elavl4
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype

Zebrafish Information Network

• Gene name: elavl4
• Affected structure: motor neuron
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: RNA processing;mRNA processing
• Molecular function: RNA binding;mRNA 3'-UTR binding;AU-rich element binding