AFF3 Chromosome 2
ALF transcription elongation factor 3
Upload your DNA to see your personal genotypes for variants in AFF3.
What This Gene Does
This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"AF4/FMR2 family|Super elongation complex"
Locus Type
gene with protein product
Location
2q11.2
Ensembl
ENSG00000144218
Associated Conditions (5)
AFF3-related disorder
Inborn genetic diseases
AFF3-associated disorder
KINSSHIP syndrome
AFF3-related neurodevelopmental disorders
Key Variants
RS140115275
Conflicting classifications of pathogenicity
AFF3-related disorder, AFF3-related disorder
Health Risk
RS199884902
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200905671
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369314956
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369764382
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1682014084
Likely pathogenic
AFF3-associated disorder, AFF3-associated disorder
Health Risk
RS2546110253
Likely pathogenic
KINSSHIP syndrome, KINSSHIP syndrome
Health Risk
RS1131692272
Pathogenic
KINSSHIP syndrome, Inborn genetic diseases, KINSSHIP syndrome
Health Risk
RS2104734930
Pathogenic
KINSSHIP syndrome, KINSSHIP syndrome
Health Risk
RS2104735114
Pathogenic
AFF3-related neurodevelopmental disorders, KINSSHIP syndrome, AFF3-related neurodevelopmental disorders
Health Risk
RS2104735130
Pathogenic
KINSSHIP syndrome, KINSSHIP syndrome
Health Risk
RS2104735156
Pathogenic
KINSSHIP syndrome, KINSSHIP syndrome
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140115275 | Health Risk | Conflicting classifications of pathogenicity | AFF3-related disorder, AFF3-related disorder |
| RS199884902 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200905671 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369314956 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369764382 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1682014084 | Health Risk | Likely pathogenic | AFF3-associated disorder, AFF3-associated disorder |
| RS2546110253 | Health Risk | Likely pathogenic | KINSSHIP syndrome, KINSSHIP syndrome |
| RS1131692272 | Health Risk | Pathogenic | KINSSHIP syndrome, Inborn genetic diseases, KINSSHIP syndrome |
| RS2104734930 | Health Risk | Pathogenic | KINSSHIP syndrome, KINSSHIP syndrome |
| RS2104735114 | Health Risk | Pathogenic | AFF3-related neurodevelopmental disorders, KINSSHIP syndrome, AFF3-related neurodevelopmental disorders |
| RS2104735130 | Health Risk | Pathogenic | KINSSHIP syndrome, KINSSHIP syndrome |
| RS2104735156 | Health Risk | Pathogenic | KINSSHIP syndrome, KINSSHIP syndrome |
| RS2104734977 | Health Risk | Pathogenic/Likely pathogenic | KINSSHIP syndrome, KINSSHIP syndrome |