HNRNPUL1

heterogeneous nuclear ribonucleoprotein U like 1

Basic information

Region (hg38): 19:41262495-41307787

Previous symbols: [ "HNRPUL1" ]

Links

ENSG00000105323 ∙ NCBI:11100 ∙ OMIM:605800 ∙ HGNC:17011 ∙ Uniprot:Q9BUJ2 ∙ 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 HNRNPUL1 gene.

• Inborn genetic diseases (19 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPUL1 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	20	0	0

Variants in HNRNPUL1

This is a list of pathogenic ClinVar variants found in the HNRNPUL1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-41264567-A-C		not specified	Uncertain significance (Mar 17, 2023)
19-41264601-T-C		not specified	Uncertain significance (May 04, 2023)
19-41264632-C-G		not specified	Uncertain significance (Jun 07, 2023)
19-41264651-G-A		not specified	Uncertain significance (Jun 17, 2022)
19-41268300-G-A		not specified	Uncertain significance (Nov 03, 2022)
19-41268331-A-C		not specified	Uncertain significance (May 16, 2022)
19-41272127-C-T		not specified	Uncertain significance (Nov 02, 2023)
19-41272186-T-C		not specified	Uncertain significance (Aug 05, 2023)
19-41272198-C-T		not specified	Uncertain significance (Aug 08, 2023)
19-41273979-C-T			Benign (Oct 24, 2018)
19-41276273-G-C		not specified	Uncertain significance (Oct 26, 2021)
19-41279128-C-A		not specified	Uncertain significance (Jun 18, 2021)
19-41292473-C-T			Uncertain significance (Dec 07, 2023)
19-41294571-G-A		not specified	Uncertain significance (Sep 29, 2023)
19-41294594-C-T		not specified	Uncertain significance (Feb 17, 2024)
19-41301539-A-G			not provided (-)
19-41302716-T-C		not specified	Uncertain significance (Oct 06, 2021)
19-41302728-G-A		not specified	Uncertain significance (Jun 01, 2023)
19-41302753-G-T		not specified	Uncertain significance (Mar 04, 2024)
19-41302892-C-T		not specified	Uncertain significance (Mar 22, 2023)
19-41302893-G-A		not specified	Uncertain significance (Sep 12, 2023)
19-41302898-G-A		not specified	Uncertain significance (May 17, 2023)
19-41302911-G-A		not specified	Uncertain significance (Feb 27, 2023)
19-41304089-C-T		not specified	Uncertain significance (Feb 12, 2024)
19-41304104-C-T		not specified	Uncertain significance (Jan 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HNRNPUL1	protein_coding	protein_coding	ENST00000392006	15	45103

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000132	125718	0	4	125722	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.23	313	520	0.602	0.0000331	5575
Missense in Polyphen		0	2.3449	0		21
Synonymous	1.08	184	204	0.904	0.0000128	1664
Loss of Function	5.97	4	49.2	0.0813	0.00000297	492

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000616	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000466	0.0000462
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000462	0.0000327
Other	0.000191	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a basic transcriptional regulator. Represses basic transcription driven by several virus and cellular promoters. When associated with BRD7, activates transcription of glucocorticoid-responsive promoter in the absence of ligand- stimulation. Plays also a role in mRNA processing and transport. Binds avidly to poly(G) and poly(C) RNA homopolymers in vitro. {ECO:0000269|PubMed:12489984, ECO:0000269|PubMed:9733834}.
• Pathway: Influenza A - Homo sapiens (human);Metabolism of RNA;mRNA Splicing - Major Pathway;mRNA Splicing;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

• pRec: 0.159

Intolerance Scores

• loftool: 0.0271
• rvis_EVS: -0.73
• rvis_percentile_EVS: 14.08

Haploinsufficiency Scores

• pHI: 0.454
• hipred: Y
• hipred_score: 0.831
• ghis: 0.627

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.987

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hnrnpul1

Gene ontology

• Biological process: mRNA splicing, via spliceosome;RNA processing;response to virus
• Cellular component: nucleus;nucleoplasm
• Molecular function: RNA binding;protein binding;enzyme binding