RTL4
Basic information
Region (hg38): X:112083015-112457514
Previous symbols: [ "ZCCHC16" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- 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 RTL4 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 | 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 | 1 | 0 |
Variants in RTL4
This is a list of pathogenic ClinVar variants found in the RTL4 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
X-112454742-C-T | not specified | Uncertain significance (Oct 22, 2021) | ||
X-112454804-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
X-112454805-G-A | not specified | Likely benign (Aug 03, 2022) | ||
X-112454900-C-T | not specified | Uncertain significance (Aug 30, 2021) | ||
X-112454907-A-G | not specified | Uncertain significance (Dec 14, 2022) | ||
X-112455021-T-C | not specified | Uncertain significance (Mar 07, 2024) | ||
X-112455083-A-T | not specified | Uncertain significance (Sep 14, 2023) | ||
X-112455177-C-T | not specified | Uncertain significance (Jan 17, 2023) | ||
X-112455276-A-C | not specified | Uncertain significance (Feb 21, 2024) | ||
X-112455280-C-A | not specified | Uncertain significance (Feb 23, 2023) | ||
X-112455297-A-T | not specified | Uncertain significance (Dec 01, 2022) | ||
X-112455384-A-G | not specified | Likely benign (Feb 10, 2022) | ||
X-112455470-A-G | not specified | Uncertain significance (Feb 07, 2023) | ||
X-112455546-G-A | not specified | Uncertain significance (Aug 26, 2022) | ||
X-112455600-G-A | not specified | Conflicting classifications of pathogenicity (Sep 01, 2022) | ||
X-112455601-A-T | not specified | Uncertain significance (Aug 01, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RTL4 | protein_coding | protein_coding | ENST00000340433 | 1 | 2747 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000345 | 0.206 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.529 | 130 | 114 | 1.14 | 0.00000830 | 2044 |
Missense in Polyphen | 27 | 21.057 | 1.2822 | 409 | ||
Synonymous | 0.207 | 42 | 43.7 | 0.960 | 0.00000310 | 613 |
Loss of Function | -0.196 | 8 | 7.42 | 1.08 | 6.28e-7 | 107 |
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: Involved in cognitive function in the brain, possibly via the noradrenergic system. {ECO:0000250|UniProtKB:Q3URY0}.;
Recessive Scores
- pRec
- 0.0804
Intolerance Scores
- loftool
- rvis_EVS
- 0.08
- rvis_percentile_EVS
- 60.31
Haploinsufficiency Scores
- pHI
- 0.111
- hipred
- N
- hipred_score
- 0.112
- ghis
- 0.386
Essentials
- essential_gene_CRISPR
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Mouse Genome Informatics
- Gene name
- Rtl4
- Phenotype
- homeostasis/metabolism phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- norepinephrine metabolic process;cognition
- Cellular component
- Molecular function
- nucleic acid binding;zinc ion binding