HNRNPUL1

heterogeneous nuclear ribonucleoprotein U like 1

Basic information

Region (hg38): 19:41262496-41307787

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.

not_specified (64 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. These statistics are base on transcript: NM_000007040.6. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			65 clinvar			65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	0	0

Loading clinvar variants...

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
Phenotype

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