CUL7 Chromosome 6
Cullin 7
Upload your DNA to see your personal genotypes for variants in CUL7.
What This Gene Does
The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]
Gene Info
Gene Group
"Cullins|3M complex subunits"
Locus Type
gene with protein product
Location
6p21.1
Ensembl
ENSG00000044090
Associated Conditions (7)
3M syndrome 1
Inborn genetic diseases
CUL7-related disorder
Hepatocellular carcinoma
Cervical cancer
3-M syndrome
Yakut short stature syndrome
Key Variants
RS1295466248
Conflicting classifications of pathogenicity
3M syndrome 1, Inborn genetic diseases, 3M syndrome 1
Health Risk
RS1363062305
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS138043979
Conflicting classifications of pathogenicity
Health Risk
RS138730481
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS138777262
Conflicting classifications of pathogenicity
Health Risk
RS139243761
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS141211365
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS141692693
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS141756281
Conflicting classifications of pathogenicity
Health Risk
RS143128153
Conflicting classifications of pathogenicity
3M syndrome 1, CUL7-related disorder, 3M syndrome 1
Health Risk
RS144245050
Conflicting classifications of pathogenicity
3M syndrome 1, 3M syndrome 1
Health Risk
RS144269675
Conflicting classifications of pathogenicity
Health Risk
All Variants (155)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS754969453 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS755095253 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS760451045 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760462179 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767470504 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS769723202 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770173163 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775748613 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS779362501 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886043610 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS886061421 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS1064793092 | Health Risk | Likely pathogenic | — |
| RS1173494063 | Health Risk | Likely pathogenic | 3-M syndrome, 3-M syndrome |
| RS1340929933 | Health Risk | Likely pathogenic | 3-M syndrome, 3-M syndrome |
| RS1359152024 | Health Risk | Likely pathogenic | 3-M syndrome, 3-M syndrome |
| RS1473516947 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1561873941 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1561875767 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1561881909 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1561892336 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1561898352 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1763636120 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS187817041 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS201137899 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150317151 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150320060 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150321832 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2150332431 | Health Risk | Likely pathogenic | — |
| RS2532600162 | Health Risk | Likely pathogenic | — |
| RS2532629067 | Health Risk | Likely pathogenic | — |
| RS2532631156 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532656855 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532665043 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532699127 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS2532713532 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS766471384 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS769345522 | Health Risk | Likely pathogenic | — |
| RS786205581 | Health Risk | Likely pathogenic | — |
| RS938522045 | Health Risk | Likely pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1023630527 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |
| RS1064792895 | Health Risk | Pathogenic | 3-M syndrome, 3-M syndrome |
| RS121918228 | Health Risk | Pathogenic | 3M syndrome 1, 3-M syndrome, 3M syndrome 1 |
| RS1321391137 | Health Risk | Pathogenic | — |
| RS1430687188 | Health Risk | Pathogenic | — |
| RS1451502922 | Health Risk | Pathogenic | — |
| RS1490219553 | Health Risk | Pathogenic | — |
| RS1554135458 | Health Risk | Pathogenic | — |
| RS1554137913 | Health Risk | Pathogenic | — |
| RS1554138577 | Health Risk | Pathogenic | — |
| RS1581930130 | Health Risk | Pathogenic | 3M syndrome 1, 3M syndrome 1 |