SETD1A Chromosome 16
SET domain containing 1A, histone lysine methyltransferase
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What This Gene Does
The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]
Gene Info
Gene Group
"Histone lysine methyltransferases|RNA binding motif containing|SET domain containing"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000099381
Associated Conditions (14)
Inborn genetic diseases
Epilepsy
early-onset
with or without developmental delay
Neurodevelopmental disorder with speech impairment and dysmorphic facies
SETD1A-related disorder
Sarcoma
Gastric cancer
See cases
Intellectual disability
Autism spectrum disorder
Schizophrenia
Neurodevelopmental disorder
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Key Variants
RS1350632089
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138754589
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1596681011
Conflicting classifications of pathogenicity
Health Risk
RS200790174
Conflicting classifications of pathogenicity
Inborn genetic diseases, Epilepsy, early-onset
Health Risk
RS200812185
Conflicting classifications of pathogenicity
Epilepsy, early-onset, with or without developmental delay
Health Risk
RS202159067
Conflicting classifications of pathogenicity
Inborn genetic diseases, SETD1A-related disorder, Inborn genetic diseases
Health Risk
RS2056139851
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies
Health Risk
RS2143589664
Conflicting classifications of pathogenicity
Epilepsy, early-onset, with or without developmental delay
Health Risk
RS2543833716
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS368496044
Conflicting classifications of pathogenicity
Epilepsy, early-onset, with or without developmental delay
Health Risk
RS373130363
Conflicting classifications of pathogenicity
SETD1A-related disorder, Inborn genetic diseases, SETD1A-related disorder
Health Risk
RS373652892
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1350632089 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138754589 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1596681011 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200790174 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Epilepsy, early-onset |
| RS200812185 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, with or without developmental delay |
| RS202159067 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, SETD1A-related disorder, Inborn genetic diseases |
| RS2056139851 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2143589664 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, with or without developmental delay |
| RS2543833716 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368496044 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, with or without developmental delay |
| RS373130363 | Health Risk | Conflicting classifications of pathogenicity | SETD1A-related disorder, Inborn genetic diseases, SETD1A-related disorder |
| RS373652892 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374206451 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, with or without developmental delay |
| RS537371612 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS745871785 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749590736 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754369980 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS765988427 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Epilepsy, early-onset |
| RS766598337 | Health Risk | Conflicting classifications of pathogenicity | See cases, Neurodevelopmental disorder with speech impairment and dysmorphic facies, See cases |
| RS766697775 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS771239116 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779334694 | Health Risk | Conflicting classifications of pathogenicity | Epilepsy, early-onset, with or without developmental delay |
| RS954009958 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1567353425 | Health Risk | Likely pathogenic | — |
| RS1567353500 | Health Risk | Likely pathogenic | SETD1A-related disorder, SETD1A-related disorder |
| RS2056003750 | Health Risk | Likely pathogenic | Epilepsy, early-onset, with or without developmental delay |
| RS2056114867 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2056144779 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2056158149 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Epilepsy, early-onset |
| RS2056165149 | Health Risk | Likely pathogenic | Epilepsy, early-onset, with or without developmental delay |
| RS2143509708 | Health Risk | Likely pathogenic | Epilepsy, early-onset, with or without developmental delay |
| RS2143514019 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2143577004 | Health Risk | Likely pathogenic | — |
| RS2543831672 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543833500 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543841848 | Health Risk | Likely pathogenic | — |
| RS2543859166 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543862825 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543864332 | Health Risk | Likely pathogenic | — |
| RS2543866311 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543876108 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS2543876266 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2543908638 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS769744692 | Health Risk | Likely pathogenic | — |
| RS1555488653 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2056099559 | Health Risk | Pathogenic | Schizophrenia, Schizophrenia |
| RS2056100951 | Health Risk | Pathogenic | Epilepsy, early-onset, with or without developmental delay |
| RS2056111688 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |
| RS2056118338 | Health Risk | Pathogenic | Epilepsy, early-onset, with or without developmental delay |
| RS2056124989 | Health Risk | Pathogenic | Neurodevelopmental disorder with speech impairment and dysmorphic facies, Neurodevelopmental disorder with speech impairment and dysmorphic facies |