Identity
HGNC
LOCATION
6q22.33
LOCUSID
ALIAS
HEL-S-76,MMCD,dJ351K20.2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55862
MIM: 612136
HGNC: 21489
Ensembl: ENSG00000093144
Variants:
dbSNP: 55862
ClinVar: 55862
TCGA: ENSG00000093144
COSMIC: ECHDC1
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Propanoate metabolism | KEGG | ko00640 |
| Propanoate metabolism | KEGG | hsa00640 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33750001 | 2021 | Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor. | 7 |
| 33973257 | 2021 | Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? | 4 |
| 33750001 | 2021 | Multi-modal meta-analysis of cancer cell line omics profiles identifies ECHDC1 as a novel breast tumor suppressor. | 7 |
| 33973257 | 2021 | Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria? | 4 |
| 20407466 | 2010 | Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. | 20 |
| 20407466 | 2010 | Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations. | 20 |
| 19517271 | 2009 | The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. | 8 |
| 19517271 | 2009 | The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. | 8 |
| 19789366 | 2009 | Evaluation of 11 breast cancer susceptibility loci in African-American women. | 56 |
| 19517271 | 2009 | The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. | 8 |
| 19517271 | 2009 | The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women. | 8 |
| 19789366 | 2009 | Evaluation of 11 breast cancer susceptibility loci in African-American women. | 56 |
| 18326623 | 2008 | Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. | 158 |
| 18326623 | 2008 | Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. | 158 |
Citation
Dessen P
ECHDC1 (ethylmalonyl-CoA decarboxylase 1)
Atlas Genet Cytogenet Oncol Haematol. 2010-01-01
Online version: http://atlasgeneticsoncology.org/gene/51265/echdc1
