EBLN1

endogenous Bornavirus like nucleoprotein 1

Basic information

Region (hg38): 10:22208475-22218015

Links

ENSG00000223601 ∙ NCBI:340900 ∙ OMIM:613249 ∙ HGNC:39430 ∙ Uniprot:P0CF75 ∙ 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 EBLN1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EBLN1 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			23	1		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	1	0

Variants in EBLN1

This is a list of pathogenic ClinVar variants found in the EBLN1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-22208893-C-T		not specified	Uncertain significance (Mar 01, 2024)
10-22208912-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-22208920-T-A		not specified	Uncertain significance (Jan 17, 2024)
10-22209011-T-A		not specified	Uncertain significance (Aug 04, 2021)
10-22209110-C-A		not specified	Uncertain significance (Oct 26, 2022)
10-22209128-G-A		not specified	Likely benign (Feb 03, 2023)
10-22209130-A-G		not specified	Uncertain significance (Jan 23, 2024)
10-22209218-C-T		not specified	Uncertain significance (Jun 03, 2022)
10-22209251-C-G		not specified	Uncertain significance (Jun 11, 2024)
10-22209308-T-G		not specified	Uncertain significance (Apr 01, 2024)
10-22209331-G-A		not specified	Uncertain significance (Oct 27, 2021)
10-22209358-A-T		not specified	Uncertain significance (Nov 05, 2021)
10-22209359-A-T		not specified	Uncertain significance (Mar 21, 2022)
10-22209371-A-C		not specified	Uncertain significance (Aug 08, 2022)
10-22209541-G-A		not specified	Uncertain significance (Nov 02, 2023)
10-22209569-G-A		not specified	Uncertain significance (May 20, 2024)
10-22209571-C-G		not specified	Uncertain significance (Jun 29, 2022)
10-22209623-A-G		not specified	Uncertain significance (Jul 07, 2022)
10-22209649-T-G		not specified	Uncertain significance (Dec 07, 2021)
10-22209659-C-T		not specified	Uncertain significance (Jun 30, 2022)
10-22209662-T-C		not specified	Uncertain significance (Apr 15, 2024)
10-22209695-C-T		not specified	Uncertain significance (Jan 24, 2024)
10-22209701-T-C		not specified	Uncertain significance (Jan 23, 2023)
10-22209701-T-G		not specified	Uncertain significance (Oct 12, 2021)
10-22209874-C-T		not specified	Uncertain significance (Sep 29, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EBLN1	protein_coding	protein_coding	ENST00000422359	1	1208

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	1.39	128	180	0.709	0.00000864	2374
Missense in Polyphen		16	26.5	0.60378		329
Synonymous	0.477	62	67.0	0.926	0.00000345	720
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. Highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes (By similarity). {ECO:0000250}.

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_CRISPR2: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High