PUF60 Chromosome 8
Poly(U) binding splicing factor 60
Upload your DNA to see your personal genotypes for variants in PUF60.
What This Gene Does
This gene encodes a nucleic acid-binding protein that plays a role in a variety of nuclear processes, including pre-mRNA splicing and transcriptional regulation. The encoded protein forms a complex with the far upstream DNA element (FUSE) and FUSE-binding protein at the myelocytomatosis oncogene (MYC) promoter. This complex represses MYC transcription through the core-TFIIH basal transcription factor. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
Gene Info
Gene Group
"RNA binding motif containing|Spliceosomal A complex"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000179950
Associated Conditions (9)
Inborn genetic diseases
8q24.3 microdeletion syndrome
PUF60-related disorder
CHARGE syndrome
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
See cases
Neurodevelopmental abnormality
Intellectual disability
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Key Variants
RS1064794916
Conflicting classifications of pathogenicity
Inborn genetic diseases, 8q24.3 microdeletion syndrome, Inborn genetic diseases
Health Risk
RS1816558436
Conflicting classifications of pathogenicity
8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
Health Risk
RS200179503
Conflicting classifications of pathogenicity
8q24.3 microdeletion syndrome, Inborn genetic diseases, PUF60-related disorder
Health Risk
RS2130257405
Conflicting classifications of pathogenicity
8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
Health Risk
RS374890815
Conflicting classifications of pathogenicity
Inborn genetic diseases, 8q24.3 microdeletion syndrome, Inborn genetic diseases
Health Risk
RS1057518014
Likely pathogenic
Health Risk
RS1057518681
Likely pathogenic
8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
Health Risk
RS1064795388
Likely pathogenic
8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome
Health Risk
RS1085307132
Likely pathogenic
Health Risk
RS1085307134
Likely pathogenic
Health Risk
RS1085307138
Likely pathogenic
Health Risk
RS1085307139
Likely pathogenic
Health Risk
All Variants (84)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1064794916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 8q24.3 microdeletion syndrome, Inborn genetic diseases |
| RS1816558436 | Health Risk | Conflicting classifications of pathogenicity | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS200179503 | Health Risk | Conflicting classifications of pathogenicity | 8q24.3 microdeletion syndrome, Inborn genetic diseases, PUF60-related disorder |
| RS2130257405 | Health Risk | Conflicting classifications of pathogenicity | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS374890815 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, 8q24.3 microdeletion syndrome, Inborn genetic diseases |
| RS1057518014 | Health Risk | Likely pathogenic | — |
| RS1057518681 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1064795388 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1085307132 | Health Risk | Likely pathogenic | — |
| RS1085307134 | Health Risk | Likely pathogenic | — |
| RS1085307138 | Health Risk | Likely pathogenic | — |
| RS1085307139 | Health Risk | Likely pathogenic | — |
| RS1210239952 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1554641549 | Health Risk | Likely pathogenic | — |
| RS1554643168 | Health Risk | Likely pathogenic | — |
| RS1554643473 | Health Risk | Likely pathogenic | Inborn genetic diseases, 8q24.3 microdeletion syndrome, Inborn genetic diseases |
| RS1554643584 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, CHARGE syndrome, 8q24.3 microdeletion syndrome |
| RS1586555859 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1586565506 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1816345861 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities, Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities |
| RS1816624373 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2130202692 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2130205866 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2130244708 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2130253034 | Health Risk | Likely pathogenic | — |
| RS2130256444 | Health Risk | Likely pathogenic | — |
| RS2130256693 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538841647 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538853643 | Health Risk | Likely pathogenic | — |
| RS2538857317 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538857659 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538860667 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538896058 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS2538896927 | Health Risk | Likely pathogenic | — |
| RS2538914833 | Health Risk | Likely pathogenic | — |
| RS398123001 | Health Risk | Likely pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1057518046 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, Inborn genetic diseases, 8q24.3 microdeletion syndrome |
| RS1131691721 | Health Risk | Pathogenic | — |
| RS1229324113 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1464053660 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1554642022 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1554642573 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1554643463 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554643598 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1563818514 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1563819620 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, See cases, 8q24.3 microdeletion syndrome |
| RS1563823411 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1563825893 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1563826453 | Health Risk | Pathogenic | 8q24.3 microdeletion syndrome, 8q24.3 microdeletion syndrome |
| RS1563839312 | Health Risk | Pathogenic | — |