HNRNPLL

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

Basic information

Region (hg38): 2:38561969-38603586

Previous symbols: [ "HNRPLL" ]

Links

ENSG00000143889 ∙ NCBI:92906 ∙ OMIM:611208 ∙ HGNC:25127 ∙ Uniprot:Q8WVV9 ∙ 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 HNRNPLL gene.

• not_specified (36 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HNRNPLL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138394.4. 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						0
missense			36			36
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HNRNPLL	protein_coding	protein_coding	ENST00000409636	14	41609

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.919	0.0809	125720	0	23	125743	0.0000915

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.36	177	290	0.610	0.0000149	3477
Missense in Polyphen		57	128.97	0.44197		1543
Synonymous	-1.36	122	104	1.17	0.00000525	1029
Loss of Function	4.24	5	30.1	0.166	0.00000169	368

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000596	0.000592
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: RNA-binding protein that functions as regulator of alternative splicing for multiple target mRNAs, including PTPRC/CD45 and STAT5A. Required for alternative splicing of PTPRC. {ECO:0000269|PubMed:18669861}.

Recessive Scores

• pRec: 0.109

Intolerance Scores

• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.37

Haploinsufficiency Scores

• pHI: 0.573
• hipred: Y
• hipred_score: 0.575
• ghis: 0.582

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hnrnpll
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: mRNA processing;positive regulation of RNA splicing
• Cellular component: nucleus;membrane
• Molecular function: RNA binding;mRNA binding;protein binding