RTL10

retrotransposon Gag like 10, the group of BCL2 homology region 3 (BH3) only|Retrotransposon Gag like

Basic information

Region (hg38): 22:19846137-19854896

Previous symbols: [ "C22orf29" ]

Links

ENSG00000215012 ∙ NCBI:79680 ∙ ∙ HGNC:26112 ∙ Uniprot:Q7L3V2 ∙ 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 RTL10 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RTL10 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			1			1
nonsense					1	1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	1

Variants in RTL10

This is a list of pathogenic ClinVar variants found in the RTL10 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-19851895-C-T		not specified	Uncertain significance (Aug 04, 2021)
22-19851994-G-A			Benign (Mar 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RTL10	protein_coding	protein_coding	ENST00000405640	1	8759

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	-0.0461	219	217	1.01	0.0000121	2326
Missense in Polyphen		41	41.841	0.9799		502
Synonymous	0.499	83	89.0	0.933	0.00000514	796
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: Could induce apoptosis in a BH3 domain-dependent manner. The direct interaction network of Bcl-2 family members may play a key role in modulation RTL10/BOP intrinsic apoptotic signaling activity. {ECO:0000269|PubMed:23055042}.

Recessive Scores

• pRec: 0.0917

Intolerance Scores

• rvis_EVS: 0.4
• rvis_percentile_EVS: 76.31

Haploinsufficiency Scores

• pHI: 0.0743
• hipred: N
• hipred_score: 0.123
• ghis: 0.571

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Rtl10

Gene ontology

• Biological process: regulation of mitochondrial membrane potential;mitochondrial outer membrane permeabilization
• Cellular component: mitochondrion
• Molecular function: protein binding