CCL27
Basic information
Region (hg38): 9:34661879-34664048
Previous symbols: [ "SCYA27" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
9-34662386-C-T | not specified | Uncertain significance (Apr 09, 2024) | ||
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:
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:
- 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
- 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