RHBDL1

rhomboid like 1, the group of Rhomboid family

Basic information

Region (hg38): 16:675671-678268

Previous symbols: [ "RHBDL" ]

Links

ENSG00000103269NCBI:9028OMIM:603264HGNC:10007Uniprot:O75783AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RHBDL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHBDL1 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 0 0 0

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHBDL1protein_codingprotein_codingENST00000219551 72603
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.3240.675125192091252010.0000359
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.222202770.7940.00001892776
Missense in Polyphen92143.990.638931404
Synonymous-1.121411251.130.00000911936
Loss of Function2.95417.20.2327.39e-7186

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00007110.0000619
Ashkenazi Jewish0.0003070.000299
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00003960.0000354
Middle Eastern0.000.00
South Asian0.00003330.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May be involved in regulated intramembrane proteolysis and the subsequent release of functional polypeptides from their membrane anchors. {ECO:0000250}.;
Pathway
DroToll-like (Consensus)

Recessive Scores

pRec
0.173

Intolerance Scores

loftool
0.380
rvis_EVS
-0.09
rvis_percentile_EVS
46.74

Haploinsufficiency Scores

pHI
0.338
hipred
Y
hipred_score
0.729
ghis
0.555

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.221

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rhbdl1
Phenotype
homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; embryo phenotype; vision/eye phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Gene ontology

Biological process
proteolysis;signal transduction
Cellular component
integral component of plasma membrane;membrane
Molecular function
serine-type endopeptidase activity