MYSM1 Chromosome 1
Myb like, SWIRM and MPN domains 1
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What This Gene Does
Enables deubiquitinase activity; histone binding activity; and transcription coactivator activity. Involved in chromatin remodeling; positive regulation of transcription by RNA polymerase II; and regulation of hemopoiesis. Located in nucleolus and nucleoplasm. Part of protein-containing complex. Implicated in diabetic retinopathy. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Myb/SANT domain containing|JAMM/MPN+ metallopeptidase family"
Locus Type
gene with protein product
Location
1p32.1
Ensembl
ENSG00000162601
Associated Conditions (4)
MYSM1-related disorder
Inborn genetic diseases
Bone marrow failure syndrome 4
Clear cell carcinoma of kidney
Key Variants
RS186559420
Conflicting classifications of pathogenicity
MYSM1-related disorder, Inborn genetic diseases, MYSM1-related disorder
Health Risk
RS199949280
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202033823
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS371957963
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS551018622
Conflicting classifications of pathogenicity
Health Risk
RS569512271
Conflicting classifications of pathogenicity
Inborn genetic diseases, MYSM1-related disorder, Inborn genetic diseases
Health Risk
RS758032156
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS767560916
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS770840414
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1307057213
Likely pathogenic
Health Risk
RS1569692271
Likely pathogenic
Health Risk
RS201886018
Likely pathogenic
Bone marrow failure syndrome 4, MYSM1-related disorder, Clear cell carcinoma of kidney
Health Risk
All Variants (33)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS186559420 | Health Risk | Conflicting classifications of pathogenicity | MYSM1-related disorder, Inborn genetic diseases, MYSM1-related disorder |
| RS199949280 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202033823 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371957963 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS551018622 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS569512271 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, MYSM1-related disorder, Inborn genetic diseases |
| RS758032156 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS767560916 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770840414 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1307057213 | Health Risk | Likely pathogenic | — |
| RS1569692271 | Health Risk | Likely pathogenic | — |
| RS201886018 | Health Risk | Likely pathogenic | Bone marrow failure syndrome 4, MYSM1-related disorder, Clear cell carcinoma of kidney |
| RS2524280386 | Health Risk | Likely pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS558614618 | Health Risk | Likely pathogenic | — |
| RS1038285646 | Health Risk | Pathogenic | — |
| RS1175570663 | Health Risk | Pathogenic | — |
| RS1557507208 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS1557518298 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS1569770360 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS1644486654 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS2100658801 | Health Risk | Pathogenic | — |
| RS2100658808 | Health Risk | Pathogenic | — |
| RS2524279750 | Health Risk | Pathogenic | — |
| RS2524284551 | Health Risk | Pathogenic | — |
| RS2524285749 | Health Risk | Pathogenic | — |
| RS2524330840 | Health Risk | Pathogenic | — |
| RS2524357635 | Health Risk | Pathogenic | — |
| RS536775508 | Health Risk | Pathogenic | — |
| RS748065332 | Health Risk | Pathogenic | — |
| RS755178846 | Health Risk | Pathogenic | — |
| RS775930259 | Health Risk | Pathogenic | — |
| RS780757165 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |
| RS866468317 | Health Risk | Pathogenic | Bone marrow failure syndrome 4, Bone marrow failure syndrome 4 |