CCL27

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

Basic information

Region (hg38): 9:34661879-34664048

Previous symbols: [ "SCYA27" ]

Links

ENSG00000213927 ∙ NCBI:10850 ∙ OMIM:604833 ∙ HGNC:10626 ∙ Uniprot:Q9Y4X3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	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)
9-34662078-G-A		not specified	Uncertain significance (Feb 24, 2022)
9-34662296-A-C		not specified	Uncertain significance (Dec 12, 2023)
9-34662378-G-A		not specified	Uncertain significance (Oct 16, 2023)
9-34662607-G-T		not specified	Uncertain significance (Nov 19, 2022)
9-34662626-C-T		not specified	Uncertain significance (Jun 23, 2021)
9-34662629-T-G		not specified	Uncertain significance (Mar 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCL27	protein_coding	protein_coding	ENST00000259631	3	2169

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0135	0.684	125727	0	18	125745	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.406	50	58.8	0.851	0.00000294	720
Missense in Polyphen		16	18.118	0.88308		226
Synonymous	0.167	23	24.0	0.957	0.00000105	228
Loss of Function	0.576	3	4.29	0.700	2.66e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000141	0.000141
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Gm13306

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