HECTD3
Basic information
Region (hg38): 1:45002540-45011324
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 HECTD3 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 | 3 | |||||
missense | 51 | 54 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 1 | 1 | ||||
non coding | 0 | |||||
Total | 0 | 0 | 52 | 3 | 3 |
Variants in HECTD3
This is a list of pathogenic ClinVar variants found in the HECTD3 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-45003510-C-A | not specified | Uncertain significance (Apr 19, 2024) | ||
1-45003568-A-G | not specified | Uncertain significance (Dec 17, 2023) | ||
1-45003675-T-G | not specified | Uncertain significance (Apr 12, 2023) | ||
1-45003724-C-T | Likely benign (Jul 02, 2018) | |||
1-45003920-G-C | not specified | Uncertain significance (Aug 26, 2024) | ||
1-45004105-A-C | not specified | Uncertain significance (Oct 01, 2024) | ||
1-45004106-G-C | not specified | Uncertain significance (Jul 20, 2022) | ||
1-45004118-G-C | not specified | Uncertain significance (Dec 03, 2021) | ||
1-45004306-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
1-45004328-A-T | not specified | Uncertain significance (Sep 30, 2024) | ||
1-45004331-A-G | not specified | Uncertain significance (Oct 06, 2021) | ||
1-45004368-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
1-45004611-T-C | not specified | Uncertain significance (Feb 08, 2025) | ||
1-45004656-G-A | not specified | Uncertain significance (Nov 10, 2024) | ||
1-45004664-T-C | not specified | Uncertain significance (Feb 10, 2023) | ||
1-45004680-C-T | not specified | Uncertain significance (Nov 09, 2024) | ||
1-45004766-G-A | not specified | Uncertain significance (Oct 20, 2023) | ||
1-45004786-C-A | not specified | Uncertain significance (Oct 14, 2023) | ||
1-45006007-T-G | not specified | Uncertain significance (Jun 12, 2023) | ||
1-45006016-A-T | not specified | Uncertain significance (Nov 13, 2024) | ||
1-45006038-C-T | not specified | Uncertain significance (Dec 15, 2022) | ||
1-45006064-C-T | not specified | Uncertain significance (Dec 14, 2021) | ||
1-45006112-T-C | Benign (Jul 15, 2018) | |||
1-45006708-A-G | not specified | Uncertain significance (May 18, 2023) | ||
1-45006731-G-A | Benign (Jul 15, 2018) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
HECTD3 | protein_coding | protein_coding | ENST00000372172 | 21 | 8790 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0888 | 0.911 | 124782 | 1 | 36 | 124819 | 0.000148 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.15 | 367 | 503 | 0.730 | 0.0000312 | 5486 |
Missense in Polyphen | 96 | 159.71 | 0.60109 | 1697 | ||
Synonymous | 0.586 | 188 | 199 | 0.947 | 0.0000116 | 1745 |
Loss of Function | 4.83 | 12 | 48.2 | 0.249 | 0.00000248 | 518 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000187 | 0.000122 |
Ashkenazi Jewish | 0.0000997 | 0.0000993 |
East Asian | 0.000279 | 0.000278 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000224 | 0.000221 |
Middle Eastern | 0.000279 | 0.000278 |
South Asian | 0.0000981 | 0.0000980 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: E3 ubiquitin ligases accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. Mediates ubiquitination of TRIOBP and its subsequent proteasomal degradation, thus faciliting cell cycle progression by regulating the turn-over of TRIOBP. Mediates also ubiquitination of STX8 (By similarity). {ECO:0000250|UniProtKB:Q3U487, ECO:0000269|PubMed:18194665}.;
- Pathway
- Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation
(Consensus)
Recessive Scores
- pRec
- 0.117
Intolerance Scores
- loftool
- 0.637
- rvis_EVS
- -0.91
- rvis_percentile_EVS
- 10.07
Haploinsufficiency Scores
- pHI
- 0.167
- hipred
- Y
- hipred_score
- 0.563
- ghis
- 0.552
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.857
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hectd3
- 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); digestive/alimentary phenotype; immune system phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; normal phenotype; 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); 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); hematopoietic system phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- protein ubiquitination;proteasome-mediated ubiquitin-dependent protein catabolic process
- Cellular component
- perinuclear region of cytoplasm
- Molecular function
- ubiquitin-protein transferase activity;protein binding;syntaxin binding