GAS2L1

growth arrest specific 2 like 1

Basic information

Region (hg38): 22:29306618-29312787

Links

ENSG00000185340NCBI:10634OMIM:602128HGNC:16955Uniprot:Q99501AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GAS2L1 gene.

  • not_specified (43 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GAS2L1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001362985.3. 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
42
clinvar
1
clinvar
43
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 42 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
GAS2L1protein_codingprotein_codingENST00000341313 46203
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.8320.167125725041257290.0000159
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.331692250.7500.00001582086
Missense in Polyphen91141.340.643841348
Synonymous1.228398.40.8430.00000711742
Loss of Function2.68110.30.09756.03e-7100

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00002870.0000264
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Seems to be involved in the cross-linking of microtubules and microfilaments. {ECO:0000269|PubMed:12584248}.;
Pathway
miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in squamous cell - TarBase;Ectoderm Differentiation (Consensus)

Recessive Scores

pRec
0.119

Intolerance Scores

loftool
0.520
rvis_EVS
0.37
rvis_percentile_EVS
75.29

Haploinsufficiency Scores

pHI
0.317
hipred
Y
hipred_score
0.617
ghis
0.449

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0396

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gas2l1
Phenotype
reproductive system phenotype;

Gene ontology

Biological process
cell cycle arrest;cellular response to starvation;cellular response to thyroid hormone stimulus
Cellular component
cytoplasm;cytoskeleton
Molecular function
microtubule binding;cytoskeletal adaptor activity;thyroid hormone receptor binding