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GeneBe

CCL27

C-C motif chemokine ligand 27, the group of Chemokine ligands

Basic information

Region (hg38): 9:34661879-34664048

Previous symbols: [ "SCYA27" ]

Links

ENSG00000213927NCBI:10850OMIM:604833HGNC:10626Uniprot:Q9Y4X3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CCL27 gene.

  • Inborn genetic diseases (4 variants)
  • not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCL27 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
4
clinvar
1
clinvar
5
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 4 0 1

Variants in CCL27

This is a list of pathogenic ClinVar variants found in the CCL27 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
9-34662051-T-C Benign (Jul 06, 2018)768290
9-34662078-G-A Inborn genetic diseases Uncertain significance (Feb 24, 2022)2338800
9-34662607-G-T Inborn genetic diseases Uncertain significance (Nov 19, 2022)2328410
9-34662626-C-T Inborn genetic diseases Uncertain significance (Jun 23, 2021)2353952
9-34662629-T-G Inborn genetic diseases Uncertain significance (Mar 24, 2023)2529851

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CCL27protein_codingprotein_codingENST00000259631 32169
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01350.6841257270181257450.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4065058.80.8510.00000294720
Missense in Polyphen1618.1180.88308226
Synonymous0.1672324.00.9570.00000105228
Loss of Function0.57634.290.7002.66e-745

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004630.0000462
European (Non-Finnish)0.0001410.000141
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Chemotactic factor that attracts skin-associated memory T-lymphocytes. May play a role in mediating homing of lymphocytes to cutaneous sites. Binds to CCR10.;
Pathway
Chemokine signaling pathway - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);Chemokine signaling pathway;Signaling by GPCR;Signal Transduction;Chemokine receptors bind chemokines;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.264

Intolerance Scores

loftool
0.491
rvis_EVS
0.35
rvis_percentile_EVS
73.97

Haploinsufficiency Scores

pHI
0.162
hipred
N
hipred_score
0.112
ghis
0.427

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.601

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Gm13306
Phenotype

Gene ontology

Biological process
chemotaxis;immune response;G protein-coupled receptor signaling pathway;cell-cell signaling;regulation of signaling receptor activity;cell chemotaxis
Cellular component
extracellular region;extracellular space
Molecular function
protein binding;chemokine activity;CCR3 chemokine receptor binding