CLDN8
Basic information
Region (hg38): 21:30214006-30216097
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 CLDN8 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 | 18 | 23 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 18 | 2 | 3 |
Variants in CLDN8
This is a list of pathogenic ClinVar variants found in the CLDN8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
21-30215279-G-A | Benign (Dec 01, 2022) | |||
21-30215287-C-A | not specified | Uncertain significance (Sep 16, 2021) | ||
21-30215302-A-C | Likely benign (Sep 01, 2024) | |||
21-30215303-C-A | not specified | Uncertain significance (Dec 13, 2022) | ||
21-30215306-T-A | not specified | Uncertain significance (Sep 23, 2023) | ||
21-30215316-T-C | not specified | Uncertain significance (Jun 05, 2024) | ||
21-30215324-G-A | not specified | Uncertain significance (Dec 08, 2023) | ||
21-30215387-G-A | not specified | Uncertain significance (Sep 02, 2024) | ||
21-30215391-C-T | not specified | Uncertain significance (Oct 20, 2023) | ||
21-30215463-C-A | not specified | Uncertain significance (Dec 17, 2024) | ||
21-30215468-A-T | not specified | Uncertain significance (Dec 03, 2024) | ||
21-30215474-G-A | not specified | Uncertain significance (Sep 20, 2023) | ||
21-30215526-G-A | not specified | Uncertain significance (Nov 12, 2024) | ||
21-30215568-G-A | Uncertain significance (-) | |||
21-30215592-C-T | not specified | Uncertain significance (May 20, 2024) | ||
21-30215598-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
21-30215625-C-T | not specified | Uncertain significance (Apr 17, 2023) | ||
21-30215636-A-G | Benign (Jun 30, 2017) | |||
21-30215645-G-A | Benign (Apr 03, 2018) | |||
21-30215670-C-T | not specified | Uncertain significance (Jan 08, 2024) | ||
21-30215741-A-G | not specified | Uncertain significance (Jun 25, 2024) | ||
21-30215764-G-T | Uncertain significance (-) | |||
21-30215788-G-C | not specified | Likely benign (Oct 20, 2021) | ||
21-30215831-A-G | not specified | Uncertain significance (Jan 17, 2025) | ||
21-30215844-G-A | not specified | Uncertain significance (Aug 16, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
CLDN8 | protein_coding | protein_coding | ENST00000399899 | 1 | 2068 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0162 | 0.720 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.171 | 138 | 132 | 1.04 | 0.00000723 | 1463 |
Missense in Polyphen | 48 | 51.915 | 0.92459 | 594 | ||
Synonymous | 0.287 | 51 | 53.7 | 0.950 | 0.00000354 | 455 |
Loss of Function | 0.703 | 3 | 4.63 | 0.647 | 1.96e-7 | 55 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Tight-junction protein required for paracellular chloride transport in the kidney. Mediates recruitment of CLDN4 to tight junction in the kidney. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity. {ECO:0000250|UniProtKB:Q9Z260}.;
- Pathway
- Cell adhesion molecules (CAMs) - Homo sapiens (human);Tight junction - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);EMT transition in Colorectal Cancer;Tight junction interactions;Cell-cell junction organization;Cell junction organization;Cell-Cell communication
(Consensus)
Recessive Scores
- pRec
- 0.129
Intolerance Scores
- loftool
- 0.290
- rvis_EVS
- 1.04
- rvis_percentile_EVS
- 91.21
Haploinsufficiency Scores
- pHI
- 0.119
- hipred
- N
- hipred_score
- 0.248
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.454
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | High |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Cldn8
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); renal/urinary system phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules
- Cellular component
- endoplasmic reticulum;plasma membrane;bicellular tight junction;integral component of membrane;basolateral plasma membrane;apicolateral plasma membrane
- Molecular function
- structural molecule activity;protein binding;identical protein binding