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 |
|---|---|---|---|
| RS1295466248 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, Inborn genetic diseases, 3M syndrome 1 |
| RS1363062305 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS138043979 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138730481 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS138777262 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139243761 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS141211365 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS141692693 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS141756281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS143128153 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS144245050 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS144269675 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144556973 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS144880219 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144926293 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145572983 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146227929 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CUL7-related disorder, Inborn genetic diseases |
| RS147326417 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, CUL7-related disorder, Inborn genetic diseases |
| RS147452416 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150213603 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS151021564 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS183865568 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS188565648 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199819170 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, Hepatocellular carcinoma, 3M syndrome 1 |
| RS200040003 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS200468701 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3M syndrome 1, Inborn genetic diseases |
| RS201135654 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, Cervical cancer, 3M syndrome 1 |
| RS201310376 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS201386557 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS34916226 | Health Risk | Conflicting classifications of pathogenicity | CUL7-related disorder, 3M syndrome 1, CUL7-related disorder |
| RS368209176 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368539088 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369045809 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, Inborn genetic diseases, 3M syndrome 1 |
| RS369092411 | Health Risk | Conflicting classifications of pathogenicity | CUL7-related disorder, CUL7-related disorder |
| RS372757013 | Health Risk | Conflicting classifications of pathogenicity | CUL7-related disorder, CUL7-related disorder |
| RS376630030 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS45574335 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS527664718 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS528280483 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3M syndrome 1, Inborn genetic diseases |
| RS552325363 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS572367422 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS61748654 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS61750320 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS61750322 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS745678508 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748157885 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, CUL7-related disorder, 3M syndrome 1 |
| RS748818384 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 3M syndrome 1, Inborn genetic diseases |
| RS750060978 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS750900568 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |
| RS753550369 | Health Risk | Conflicting classifications of pathogenicity | 3M syndrome 1, 3M syndrome 1 |