IL4I1
Basic information
Region (hg38): 19:49889654-49929539
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 IL4I1 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 | 39 | 40 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 122 | 52 | 16 | 190 | ||
Total | 0 | 0 | 161 | 53 | 16 |
Variants in IL4I1
This is a list of pathogenic ClinVar variants found in the IL4I1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-49889686-G-C | not specified | Uncertain significance (Sep 09, 2024) | ||
19-49889709-T-G | not specified | Uncertain significance (Aug 17, 2021) | ||
19-49889729-G-A | not specified | Uncertain significance (Sep 28, 2022) | ||
19-49889741-C-G | not specified | Uncertain significance (Dec 02, 2024) | ||
19-49889762-A-C | not specified | Uncertain significance (Jul 06, 2022) | ||
19-49889845-G-T | not specified | Uncertain significance (Mar 01, 2024) | ||
19-49889849-C-G | not specified | Uncertain significance (Jan 23, 2024) | ||
19-49889866-T-C | not specified | Likely benign (Mar 28, 2024) | ||
19-49889885-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
19-49889959-G-A | not specified | Uncertain significance (Jan 09, 2024) | ||
19-49889981-C-T | not specified | Uncertain significance (Jan 01, 2025) | ||
19-49890065-C-G | not specified | Uncertain significance (Mar 31, 2024) | ||
19-49890118-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
19-49890137-C-T | not specified | Uncertain significance (Feb 20, 2025) | ||
19-49890188-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
19-49890262-C-T | not specified | Uncertain significance (Oct 10, 2023) | ||
19-49890266-C-T | not specified | Uncertain significance (May 27, 2022) | ||
19-49890280-C-A | not specified | Uncertain significance (Oct 27, 2021) | ||
19-49890289-G-A | not specified | Uncertain significance (Jun 06, 2022) | ||
19-49890497-C-T | not specified | Uncertain significance (Aug 12, 2024) | ||
19-49890562-C-G | not specified | Uncertain significance (Mar 08, 2025) | ||
19-49890592-C-A | not specified | Uncertain significance (Aug 19, 2024) | ||
19-49890978-T-C | not specified | Uncertain significance (May 18, 2022) | ||
19-49891058-A-G | not specified | Uncertain significance (Nov 28, 2024) | ||
19-49891088-C-G | not specified | Uncertain significance (Mar 25, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
IL4I1 | protein_coding | protein_coding | ENST00000595948 | 7 | 39886 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00396 | 0.962 | 125732 | 0 | 15 | 125747 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.78 | 276 | 373 | 0.741 | 0.0000222 | 3786 |
Missense in Polyphen | 95 | 159.09 | 0.59715 | 1515 | ||
Synonymous | 0.278 | 170 | 175 | 0.973 | 0.0000119 | 1212 |
Loss of Function | 1.86 | 6 | 13.3 | 0.450 | 5.73e-7 | 162 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000395 | 0.000395 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000163 | 0.000163 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000178 | 0.0000176 |
Middle Eastern | 0.000163 | 0.000163 |
South Asian | 0.00 | 0.00 |
Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Lysosomal L-amino-acid oxidase with highest specific activity with phenylalanine. May play a role in lysosomal antigen processing and presentation (By similarity). {ECO:0000250}.;
- Pathway
- Alanine, aspartate and glutamate metabolism - Homo sapiens (human);Tryptophan metabolism - Homo sapiens (human);Phenylalanine metabolism - Homo sapiens (human);Phenylalanine, tyrosine and tryptophan biosynthesis - Homo sapiens (human);Cysteine and methionine metabolism - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);S-Adenosylhomocysteine (SAH) Hydrolase Deficiency;Methionine Metabolism;Methionine Adenosyltransferase Deficiency;Glycine N-methyltransferase Deficiency;Phenylalanine and Tyrosine Metabolism;Hypermethioninemia;Methylenetetrahydrofolate Reductase Deficiency (MTHFRD);Hypoacetylaspartia;Homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblG complementation type;Aspartate Metabolism;Phenylketonuria;Tyrosinemia Type 3 (TYRO3);Tyrosinemia Type 2 (or Richner-Hanhart syndrome);Canavan Disease;Cystathionine Beta-Synthase Deficiency;Methionine De Novo and Salvage Pathway;Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism;Metabolism of amino acids and derivatives;Tyrosine metabolism;Phenylalanine and tyrosine catabolism;Metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine
(Consensus)
Recessive Scores
- pRec
- 0.166
Intolerance Scores
- loftool
- 0.119
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.61
Haploinsufficiency Scores
- pHI
- 0.0558
- hipred
- N
- hipred_score
- 0.455
- ghis
- 0.464
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.698
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Il4i1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);
Gene ontology
- Biological process
- L-phenylalanine catabolic process;cellular amino acid catabolic process;oxidation-reduction process
- Cellular component
- extracellular region;lysosome
- Molecular function
- L-amino-acid oxidase activity;oxidoreductase activity