GeneBe

SLIRP

SRA stem-loop interacting RNA binding protein, the group of RNA binding motif containing

Basic information

Region (hg38): 14:77708071-77761104

Previous symbols: [ "C14orf156" ]

Links

ENSG00000119705 ∙ NCBI:81892 ∙ OMIM:610211 ∙ HGNC:20495 ∙ Uniprot:Q9GZT3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • mitochondrial encephalomyopathy (Limited), mode of inheritance: AR

ClinVar

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

  • not_specified (14 variants)
  • Congenital_lactic_acidosis,_Saguenay-Lac-Saint-Jean_type (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLIRP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031210.6. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
12
clinvar
2
clinvar
 14
nonsense
0
start loss
0
frameshift
1
clinvar
 1
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 14 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SLIRPprotein_codingprotein_codingENST00000557342 453034
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
9.73e-70.1031256950511257460.000203
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.5707360.51.210.00000290708
Missense in Polyphen1918.5891.0221258
Synonymous-1.303022.21.350.00000113208
Loss of Function-0.80185.901.362.50e-769

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001600.00160
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00008810.0000879
Middle Eastern0.0001090.000109
South Asian0.00009800.0000980
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: RNA-binding protein that acts as a nuclear receptor corepressor. Probably acts by binding the SRA RNA, and repressing the SRA-mediated nuclear receptor coactivation. Binds the STR7 loop of SRA RNA. Also able to repress glucocorticoid (GR), androgen (AR), thyroid (TR) and VDR-mediated transactivation. {ECO:0000269|PubMed:16762838}.;

Intolerance Scores

loftool
rvis_EVS
0.04
rvis_percentile_EVS
56.64

Haploinsufficiency Scores

pHI
0.0368
hipred
N
hipred_score
0.461
ghis
0.505

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
E
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Slirp
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); reproductive system phenotype; cellular phenotype;

Gene ontology

Biological process
negative regulation of mitochondrial RNA catabolic process;spermatid development;single fertilization;flagellated sperm motility;mitochondrion morphogenesis
Cellular component
acrosomal vesicle;nucleus;mitochondrion;sperm flagellum;perinuclear region of cytoplasm;ribonucleoprotein complex
Molecular function
RNA binding;protein binding