FTH1
ferritin heavy chain 1, the group of Ferritin subunits
Basic information
Region (hg38): 11:61959718-61967634
Previous symbols: [ "FTHL6" ]
Links
Phenotypes
GenCC
Source:
- hemochromatosis type 5 (Moderate), mode of inheritance: AD
- hemochromatosis type 5 (Supportive), mode of inheritance: AD
- hemochromatosis type 5 (Limited), mode of inheritance: Unknown
- neurodegeneration with brain iron accumulation 9 (Moderate), mode of inheritance: AD
- hemochromatosis type 5 (Limited), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Hemochromatosis, type 5 | AD | Hematologic | Preventive measures to ameliorate iron overload may be beneficial | Hematologic; Neurologic | 11389486; 37660254 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (29 variants)
- Inborn_genetic_diseases (12 variants)
- Hemochromatosis_type_5 (7 variants)
- FTH1-related_disorder (6 variants)
- Neurodegeneration_with_brain_iron_accumulation_9 (2 variants)
- Iron_Overload (2 variants)
- Vitelliform_macular_dystrophy_2 (2 variants)
- Retinitis_Pigmentosa,_Recessive (2 variants)
- Autosomal_dominant_vitreoretinochoroidopathy (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FTH1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002032.3. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 11 | |||||
| missense | 25 | 27 | ||||
| nonsense | 2 | |||||
| start loss | 0 | |||||
| frameshift | 4 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 3 | 0 | 29 | 9 | 3 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FTH1 | protein_coding | protein_coding | ENST00000273550 | 4 | 7943 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.140 | 0.842 | 124788 | 0 | 7 | 124795 | 0.0000280 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.865 | 72 | 95.8 | 0.751 | 0.00000518 | 1212 |
| Missense in Polyphen | 4 | 11.014 | 0.36318 | 183 | ||
| Synonymous | -0.879 | 49 | 41.8 | 1.17 | 0.00000240 | 324 |
| Loss of Function | 2.05 | 3 | 9.98 | 0.301 | 5.93e-7 | 110 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.0000993 | 0.0000993 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000545 | 0.0000530 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Stores iron in a soluble, non-toxic, readily available form. Important for iron homeostasis. Has ferroxidase activity. Iron is taken up in the ferrous form and deposited as ferric hydroxides after oxidation. Also plays a role in delivery of iron to cells. Mediates iron uptake in capsule cells of the developing kidney (By similarity). {ECO:0000250}.;
- Pathway
- Necroptosis - Homo sapiens (human);Mineral absorption - Homo sapiens (human);Ferroptosis - Homo sapiens (human);Iron metabolism in placenta;Nuclear Receptors Meta-Pathway;NRF2 pathway;Golgi Associated Vesicle Biogenesis;Clathrin derived vesicle budding;Neutrophil degranulation;trans-Golgi Network Vesicle Budding;Vesicle-mediated transport;Membrane Trafficking;Innate Immune System;Immune System;Transport of small molecules;Methionine and cysteine metabolism;Iron uptake and transport;Binding and Uptake of Ligands by Scavenger Receptors;Scavenging by Class A Receptors;Validated targets of C-MYC transcriptional repression
(Consensus)
Recessive Scores
- pRec
- 0.485
Intolerance Scores
- loftool
- 0.169
- rvis_EVS
- 0.1
- rvis_percentile_EVS
- 61.28
Haploinsufficiency Scores
- pHI
- hipred
- Y
- hipred_score
- 0.669
- ghis
- 0.442
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.976
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Fth1
- Phenotype
- immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system 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); liver/biliary system phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- cellular iron ion homeostasis;intracellular sequestering of iron ion;immune response;negative regulation of cell population proliferation;neutrophil degranulation;negative regulation of fibroblast proliferation;oxidation-reduction process;negative regulation of necrotic cell death
- Cellular component
- extracellular region;nucleus;cytoplasm;cytosol;intracellular ferritin complex;autolysosome;extracellular exosome;tertiary granule lumen;ficolin-1-rich granule lumen
- Molecular function
- ferroxidase activity;iron ion binding;protein binding;ferrous iron binding;ferric iron binding;identical protein binding