RTL8B

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

Basic information

Region (hg38): X:135020513-135022542

Previous symbols: [ "FAM127C" ]

Links

ENSG00000212747NCBI:441518HGNC:33156Uniprot:Q17RB0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RTL8B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RTL8B 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
11
clinvar
1
clinvar
12
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 1 0

Variants in RTL8B

This is a list of pathogenic ClinVar variants found in the RTL8B 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-135022135-C-G not specified Uncertain significance (Jan 24, 2024)3156954
X-135022180-A-C not specified Uncertain significance (Feb 12, 2025)3791302
X-135022216-G-A not specified Uncertain significance (Jun 04, 2024)3315674
X-135022248-C-G not specified Uncertain significance (May 31, 2023)2553834
X-135022281-T-C not specified Uncertain significance (Jul 19, 2022)3156953
X-135022298-G-T not specified Uncertain significance (Nov 21, 2024)3436171
X-135022306-A-T not specified Uncertain significance (Nov 02, 2023)3156952
X-135022318-T-C not specified Likely benign (Jun 02, 2023)2555581
X-135022377-G-A not specified Uncertain significance (Sep 24, 2024)3436170
X-135022383-G-A not specified Uncertain significance (Sep 06, 2022)3156957
X-135022411-G-A not specified Uncertain significance (Jul 16, 2021)3156956
X-135022422-G-A not specified Uncertain significance (Mar 13, 2023)1206087
X-135022423-C-T not specified Uncertain significance (Sep 14, 2022)3156955
X-135022454-T-G not specified Likely benign (Jan 07, 2025)3791303

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RTL8Bprotein_codingprotein_codingENST00000391440 12017
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01430.46000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.03344948.31.010.00000319738
Missense in Polyphen1111.8360.92938193
Synonymous-0.6912621.91.190.00000148234
Loss of Function-0.81721.081.857.02e-813

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
-0.08
rvis_percentile_EVS
47.79

Haploinsufficiency Scores

pHI
0.107
hipred
N
hipred_score
0.215
ghis
0.627

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Rtl8c
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
protein binding