RBBP8NL

RBBP8 N-terminal like

Basic information

Region (hg38): 20:62410237-62427539

Previous symbols: [ "C20orf151" ]

Links

ENSG00000130701 ∙ NCBI:140893 ∙ ∙ HGNC:16144 ∙ Uniprot:Q8NC74 ∙ 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 RBBP8NL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RBBP8NL 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			34	7	1	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	7	1

Variants in RBBP8NL

This is a list of pathogenic ClinVar variants found in the RBBP8NL region.

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

Position	Type	Phenotype	Significance	ClinVar
20-62410912-G-A		not specified	Uncertain significance (Mar 16, 2022)
20-62410934-T-C		not specified	Uncertain significance (Mar 18, 2024)
20-62412675-C-T		not specified	Uncertain significance (Feb 28, 2023)
20-62412711-C-T		not specified	Uncertain significance (Apr 25, 2023)
20-62412713-G-T		not specified	Uncertain significance (Oct 27, 2023)
20-62412868-A-G		not specified	Uncertain significance (Aug 20, 2023)
20-62413410-C-T		not specified	Uncertain significance (Sep 16, 2021)
20-62413424-G-A		not specified	Likely benign (Aug 20, 2024)
20-62413496-C-T		not specified	Uncertain significance (Oct 26, 2024)
20-62413520-G-A		not specified	Uncertain significance (Dec 27, 2023)
20-62413823-T-C		not specified	Likely benign (Jul 12, 2022)
20-62413862-C-T		not specified	Uncertain significance (May 12, 2024)
20-62413895-G-T		not specified	Uncertain significance (Dec 07, 2024)
20-62413922-G-A		not specified	Uncertain significance (May 17, 2023)
20-62413958-G-A		not specified	Uncertain significance (Mar 30, 2024)
20-62413976-C-T		not specified	Uncertain significance (Mar 28, 2024)
20-62413978-G-C		not specified	Uncertain significance (Oct 01, 2024)
20-62413993-T-C		not specified	Likely benign (Apr 16, 2024)
20-62414017-G-A		not specified	Uncertain significance (Jun 10, 2024)
20-62414034-G-T		not specified	Uncertain significance (Jun 10, 2024)
20-62414086-G-A		not specified	Uncertain significance (Dec 06, 2022)
20-62414089-C-T		not specified	Uncertain significance (Nov 18, 2022)
20-62414117-A-G		not specified	Likely benign (Apr 25, 2023)
20-62414132-C-T		not specified	Uncertain significance (Nov 02, 2023)
20-62414146-G-A		not specified	Uncertain significance (Nov 17, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RBBP8NL	protein_coding	protein_coding	ENST00000252998	13	17297

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00985	0.990	125513	0	11	125524	0.0000438

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.426	342	365	0.937	0.0000223	4150
Missense in Polyphen		66	84.468	0.78136		1091
Synonymous	-0.141	168	166	1.01	0.0000108	1429
Loss of Function	3.09	8	24.5	0.327	0.00000119	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000185	0.000185
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000300	0.0000265
Middle Eastern	0.00	0.00
South Asian	0.0000693	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.0596
• hipred: N
• hipred_score: 0.233
• ghis: 0.417

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rbbp8nl

Gene ontology

• Cellular component: extracellular space