EBLN2

endogenous Bornavirus like nucleoprotein 2

Basic information

Region (hg38): 3:73061659-73063337

Links

ENSG00000255423 ∙ NCBI:55096 ∙ OMIM:613250 ∙ HGNC:25493 ∙ Uniprot:Q6P2I7 ∙ 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 EBLN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EBLN2 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			31			31
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	31	0	0

Variants in EBLN2

This is a list of pathogenic ClinVar variants found in the EBLN2 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-73062098-A-G		not specified	Uncertain significance (Sep 11, 2024)
3-73062124-A-C		not specified	Uncertain significance (Oct 20, 2023)
3-73062190-A-G		not specified	Uncertain significance (Oct 25, 2023)
3-73062229-C-T		not specified	Uncertain significance (Jun 13, 2023)
3-73062248-A-G		not specified	Uncertain significance (Oct 30, 2023)
3-73062250-C-G		not specified	Uncertain significance (Nov 07, 2022)
3-73062253-A-G		not specified	Uncertain significance (Mar 17, 2023)
3-73062268-G-T		not specified	Uncertain significance (Dec 06, 2021)
3-73062370-A-G		not specified	Uncertain significance (Aug 21, 2023)
3-73062376-G-C		not specified	Uncertain significance (Oct 20, 2024)
3-73062379-A-C		not specified	Uncertain significance (Jun 11, 2021)
3-73062401-C-T		not specified	Uncertain significance (Dec 28, 2022)
3-73062455-G-A		not specified	Uncertain significance (Oct 16, 2023)
3-73062470-G-A		not specified	Uncertain significance (Dec 28, 2023)
3-73062473-T-A		not specified	Uncertain significance (Dec 11, 2024)
3-73062480-T-A		not specified	Uncertain significance (Jul 05, 2022)
3-73062500-T-C		not specified	Uncertain significance (Dec 11, 2023)
3-73062512-G-A		not specified	Uncertain significance (Sep 27, 2022)
3-73062559-A-G		not specified	Uncertain significance (Dec 16, 2023)
3-73062561-G-T		not specified	Uncertain significance (Dec 12, 2024)
3-73062575-C-G		not specified	Uncertain significance (Mar 31, 2024)
3-73062604-A-G		not specified	Uncertain significance (Oct 12, 2022)
3-73062608-C-G		not specified	Uncertain significance (Dec 07, 2023)
3-73062625-G-C		not specified	Uncertain significance (Jun 28, 2022)
3-73062631-C-T		not specified	Uncertain significance (Dec 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EBLN2	protein_coding	protein_coding	ENST00000533473	1	1679

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.855	162	134	1.21	0.00000648	1773
Missense in Polyphen		5	12.845	0.38925		183
Synonymous	-1.08	57	47.5	1.20	0.00000231	512
Loss of Function

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as an RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human.

Intolerance Scores

• rvis_EVS: 0.91
• rvis_percentile_EVS: 89.44

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

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