HNRNPUL2

heterogeneous nuclear ribonucleoprotein U like 2

Basic information

Region (hg38): 11:62712630-62727457

Previous symbols: [ "HNRPUL2" ]

Links

ENSG00000214753 ∙ NCBI:221092 ∙ ∙ HGNC:25451 ∙ Uniprot:Q1KMD3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• complex neurodevelopmental disorder (Strong), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HNRNPUL2 gene.

• Inborn_genetic_diseases (86 variants)
• HNRNPUL2-related_disorder (10 variants)
• not_provided (3 variants)
• not_specified (2 variants)
• Intellectual_disability (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPUL2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001079559.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense			84	3		87
nonsense	1	2	1			4
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	2	2	85	6	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HNRNPUL2	protein_coding	protein_coding	ENST00000301785	14	14720

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.000207	124789	0	5	124794	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.956	355	409	0.867	0.0000235	4811
Missense in Polyphen		67	108.85	0.61551		1170
Synonymous	-3.07	203	154	1.31	0.00000810	1436
Loss of Function	5.62	5	46.3	0.108	0.00000293	480

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000646	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000354	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.135

Intolerance Scores

• loftool: 0.0912
• rvis_EVS: -0.38
• rvis_percentile_EVS: 28.01

Haploinsufficiency Scores

• pHI: 0.354
• hipred: N
• hipred_score: 0.380
• ghis: 0.547

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.920

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hnrnpul2

Gene ontology

• Biological process: biological_process
• Cellular component: nucleus;nucleoplasm;membrane
• Molecular function: RNA binding