RTL8A

retrotransposon Gag like 8A, the group of Retrotransposon Gag like

Basic information

Region (hg38): X:135050932-135052196

Previous symbols: [ "FAM127B" ]

Links

ENSG00000203950 ∙ NCBI:26071 ∙ ∙ HGNC:24514 ∙ Uniprot:Q9BWD3 ∙ 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 RTL8A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RTL8A 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				1		1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	1	0

Variants in RTL8A

This is a list of pathogenic ClinVar variants found in the RTL8A region.

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

Position	Type	Phenotype	Significance	ClinVar
X-135051822-C-T		not specified	Uncertain significance (Jan 22, 2024)
X-135051865-G-A		not specified	Uncertain significance (Aug 17, 2022)
X-135051865-G-T		not specified	Uncertain significance (Jun 02, 2023)
X-135051924-G-C		not specified	Uncertain significance (Aug 02, 2022)
X-135052029-A-C		not specified	Uncertain significance (Jul 12, 2023)
X-135052044-C-T		not specified	Uncertain significance (Feb 17, 2024)
X-135052070-G-C			Likely benign (May 01, 2022)
X-135052078-G-C		not specified	Uncertain significance (May 24, 2024)
X-135052089-A-G		not specified	Uncertain significance (Mar 04, 2024)
X-135052101-C-T		not specified	Uncertain significance (Oct 13, 2021)
X-135052103-G-T		not specified	Uncertain significance (Nov 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RTL8A	protein_coding	protein_coding	ENST00000370775	1	1265

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.446	0.461	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00488	48	47.9	1.00	0.00000316	738
Missense in Polyphen		12	14.191	0.84563		254
Synonymous	-1.68	32	22.0	1.45	0.00000149	236
Loss of Function	1.12	0	1.46	0.00	9.59e-8	16

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.48
• rvis_percentile_EVS: 78.95

Haploinsufficiency Scores

• pHI: 0.164
• hipred: N
• hipred_score: 0.180
• ghis: 0.406

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Rtl8c

Gene ontology

• Molecular function: protein binding