HNRNPA0

heterogeneous nuclear ribonucleoprotein A0, the group of RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins

Basic information

Region (hg38): 5:137745650-137754363

Previous symbols: [ "HNRPA0" ]

Links

ENSG00000177733 ∙ NCBI:10949 ∙ OMIM:609409 ∙ HGNC:5030 ∙ Uniprot:Q13151 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Tourette syndrome (Limited), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HNRNPA0 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPA0 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					1	1
missense			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	0	1

Variants in HNRNPA0

This is a list of pathogenic ClinVar variants found in the HNRNPA0 region.

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

Position	Type	Phenotype	Significance	ClinVar
5-137753163-C-T		not specified	Uncertain significance (Mar 31, 2024)
5-137753172-C-T		not specified	Uncertain significance (May 16, 2024)
5-137753408-T-A		not specified	Uncertain significance (Oct 06, 2022)
5-137753411-C-T		not specified	Uncertain significance (Aug 23, 2021)
5-137753417-T-A		not specified	Uncertain significance (Apr 13, 2023)
5-137753454-C-A		not specified	Uncertain significance (Jan 18, 2023)
5-137753460-C-T		not specified	Uncertain significance (Aug 17, 2022)
5-137753487-C-A		not specified	Uncertain significance (May 10, 2022)
5-137753551-T-C			Benign (Apr 12, 2018)
5-137753685-C-G		not specified	Uncertain significance (Jul 08, 2022)
5-137753718-G-A		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HNRNPA0	protein_coding	protein_coding	ENST00000314940	1	2965

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.916	0.0833	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.79	81	189	0.429	0.00000880	1949
Missense in Polyphen		6	60.207	0.099656		654
Synonymous	-2.36	113	85.3	1.33	0.00000416	660
Loss of Function	2.61	0	7.96	0.00	3.51e-7	86

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: mRNA-binding component of ribonucleosomes. Specifically binds AU-rich element (ARE)-containing mRNAs. Involved in post- transcriptional regulation of cytokines mRNAs. {ECO:0000269|PubMed:12456657}.
• Pathway: Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.315

Intolerance Scores

• rvis_EVS: 0.1
• rvis_percentile_EVS: 61.28

Haploinsufficiency Scores

• pHI: 0.164
• hipred: Y
• hipred_score: 0.833
• ghis: 0.691

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.959

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hnrnpa0

Gene ontology

• Biological process: mRNA splicing, via spliceosome;mRNA processing;inflammatory response;RNA metabolic process;response to lipopolysaccharide;3'-UTR-mediated mRNA stabilization
• Cellular component: nucleus;nucleoplasm;ribonucleoprotein complex
• Molecular function: RNA binding;mRNA binding;AU-rich element binding;protein kinase binding