ECHDC1 (ethylmalonyl-CoA decarboxylase 1)

2010-01-01  

Identity

HGNC
LOCATION
6q22.33
LOCUSID
ALIAS
HEL-S-76,MMCD,dJ351K20.2
FUSION GENES

Other Information

Locus ID:

NCBI: 55862
MIM: 612136
HGNC: 21489
Ensembl: ENSG00000093144

Variants:

dbSNP: 55862
ClinVar: 55862
TCGA: ENSG00000093144
COSMIC: ECHDC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000093144ENST00000368289Q9NTX5
ENSG00000093144ENST00000368291Q9NTX5
ENSG00000093144ENST00000368292F2Z2D6
ENSG00000093144ENST00000368295J3KP84
ENSG00000093144ENST00000417628H0Y525
ENSG00000093144ENST00000430841Q9NTX5
ENSG00000093144ENST00000436638H0Y5L2
ENSG00000093144ENST00000454591Q9NTX5
ENSG00000093144ENST00000454859Q9NTX5
ENSG00000093144ENST00000460558H0YCS9
ENSG00000093144ENST00000461239H0YD54
ENSG00000093144ENST00000474289Q9NTX5
ENSG00000093144ENST00000479525E9PPG7
ENSG00000093144ENST00000525745E9PLY6
ENSG00000093144ENST00000526299E9PIU8
ENSG00000093144ENST00000528402Q9NTX5
ENSG00000093144ENST00000531582E9PRU6
ENSG00000093144ENST00000531967Q9NTX5
ENSG00000093144ENST00000534442E9PJS8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Propanoate metabolismKEGGko00640
Propanoate metabolismKEGGhsa00640

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
183266232008Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.152
197893662009Evaluation of 11 breast cancer susceptibility loci in African-American women.56
204074662010Risk of breast and prostate cancer is not associated with increased homozygosity in outbred populations.15
195172712009The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women.5
195172712009The RNF146 and ECHDC1 genes as candidates for inherited breast and ovarian cancer in Jewish Ashkenazi women.5

Citation

Dessen P

ECHDC1 (ethylmalonyl-CoA decarboxylase 1)

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/gene/51265/echdc1