TSLP

thymic stromal lymphopoietin

Basic information

Region (hg38): 5:111070062-111078026

Links

ENSG00000145777NCBI:85480OMIM:607003HGNC:30743Uniprot:Q969D9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (23 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSLP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000033035.5. 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
21
clinvar
2
clinvar
23
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 21 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TSLPprotein_codingprotein_codingENST00000344895 47963
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004040.6681257350121257470.0000477
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.49110087.11.150.000004231038
Missense in Polyphen2822.6621.2355282
Synonymous-1.684532.81.370.00000159294
Loss of Function0.60245.530.7242.32e-769

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00005470.0000544
Finnish0.000.00
European (Non-Finnish)0.00008820.0000879
Middle Eastern0.00005470.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Isoform 1: Cytokine that induces the release of T-cell- attracting chemokines from monocytes and, in particular, enhances the maturation of CD11c(+) dendritic cells. Can induce allergic inflammation by directly activating mast cells. {ECO:0000269|PubMed:11418668, ECO:0000269|PubMed:11480573, ECO:0000269|PubMed:17242164}.;
Pathway
Jak-STAT signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway;Development and heterogeneity of the ILC family (Consensus)

Recessive Scores

pRec
0.0705

Intolerance Scores

loftool
0.373
rvis_EVS
-0.27
rvis_percentile_EVS
33.97

Haploinsufficiency Scores

pHI
0.141
hipred
N
hipred_score
0.221
ghis
0.450

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.914

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumLowLow
Primary ImmunodeficiencyMediumLowMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tslp
Phenotype
immune system phenotype; digestive/alimentary 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); hematopoietic system phenotype; respiratory system phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process
positive regulation of cytokine-mediated signaling pathway;positive regulation of cell population proliferation;regulation of signaling receptor activity;positive regulation of chemokine production;positive regulation of interleukin-10 production;positive regulation of interleukin-13 production;positive regulation of interleukin-5 production;positive regulation of interleukin-6 production;positive regulation of mast cell activation;interleukin-7-mediated signaling pathway;positive regulation of tyrosine phosphorylation of STAT protein;negative regulation of apoptotic process;positive regulation of inflammatory response;positive regulation of chemokine (C-C motif) ligand 1 production;positive regulation of granulocyte colony-stimulating factor production;positive regulation of STAT cascade;positive regulation of interleukin-5 secretion
Cellular component
extracellular region;extracellular space
Molecular function
cytokine activity;interleukin-7 receptor binding