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BIN1 - ENSG00000136717
bridging integrator 1
Also known as: SH3P9, AMPH2
Location: chr2:127,805,603-127,864,931 reverse strand
Gene Type: protein coding
- NCBI Gene
- 274
- HUGO
- HGNC:1052
- Ensembl
- ENSG00000136717
- VEGA
- OTTHUMG00000131465
- OMIM
- 601248
- UniProtKB
- O00499
Genomic Context
The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.
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The genome browser snapshot is fully interactive. Mouse over track elements for more information. Click and drag to move tracks. Click and drag on top positional guide to zoom to a sub-region.
To add tracks, use the provided link to switch to the full genome browser view.
Gene-based Trait Associations
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ADSP WES: Alzheimer's Disease
ADSP WES: Alzheimer's Disease Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.
Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.
See NIAGADS Accession NG00065 for more information.
Results from gene-level rare and functional variant aggregation tests for association to AD supported by significane of p < 0.5 / #genes.
Individual score test statistics for rare, predicted functional, and loss of function variants colocated with the gene were aggregated to compute gene level p-values.
See NIAGADS Accession NG00065 for more information.
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| Accession | Population | N SNPs | p-value | Sign. Level | rho | CMAF | CMAC | Covariates | Variant Filter | Caveats |
|---|---|---|---|---|---|---|---|---|---|---|
| NG00065 | European | 3 | 0.359 | N/A | 0 | 6.7e-04 | 14.0 | PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) | VEP HIGH | N/A |
| NG00065 | European | 3 | 0.359 | N/A | 0 | 6.7e-04 | 14.0 | PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) | LOF | N/A |
| NG00065 | European | 3 | 0.420 | N/A | 0 | 6.7e-04 | 14.0 | PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes | VEP HIGH | N/A |
| NG00065 | European | 3 | 0.420 | N/A | 0 | 6.7e-04 | 14.0 | PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes | LOF | N/A |
| NG00065 | European | 3 | 0.645 | N/A | 0 | 6.7e-04 | 14.0 | PCs and sequencing center | LOF | N/A |
| NG00065 | European | 3 | 0.645 | N/A | 0 | 6.7e-04 | 14.0 | PCs and sequencing center | VEP HIGH | N/A |
| NG00065 | European | 53 | 0.655 | N/A | 1 | 0.019 | 387.2 | PCs and sequencing center | VEP MOD-HIGH | N/A |
| NG00065 | Meta | 54 | 0.684 | N/A | 1 | 0.020 | 428.3 | PCs and sequencing center | VEP MOD-HIGH | N/A |
| NG00065 | Caribbean Hispanic | 6 | 0.929 | N/A | 1 | 0.052 | 41.1 | PCs and sequencing center | VEP MOD-HIGH | N/A |
| NG00065 | Caribbean Hispanic | 6 | 0.936 | N/A | 1 | 0.052 | 41.1 | PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) | VEP MOD-HIGH | N/A |
| NG00065 | Caribbean Hispanic | 6 | 0.937 | N/A | 1 | 0.052 | 41.1 | PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes | VEP MOD-HIGH | N/A |
| NG00065 | European | 53 | 0.964 | N/A | 1 | 0.019 | 387.2 | PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes | VEP MOD-HIGH | N/A |
| NG00065 | Meta | 54 | 0.982 | N/A | 1 | 0.020 | 428.3 | PCs, sequencing center, sex, age at AD onset or last-known dementia-free age (for controls), and APOE E2 and E4 genotypes | VEP MOD-HIGH | N/A |
| NG00065 | Meta | 54 | 0.992 | N/A | 0 | 0.020 | 428.3 | PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) | VEP MOD-HIGH | N/A |
| NG00065 | European | 53 | 0.996 | N/A | 0 | 0.019 | 387.2 | PCs, sequencing center, sex, and age at AD onset or last-known dementia-free age (for controls) | VEP MOD-HIGH | N/A |
Genetic Variation and Variant-based Trait Associations (GWAS)
Variants contained within the BIN1 gene.
Variants contained within the BIN1 gene.
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NIAGADS GWAS: Alzheimer's Disease
NHGRI GWAS: Alzheimer's Disease
NIAGADS GWAS: AD biomarkers and related neuropathologies
NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)
The BIN1 gene contains 4,152 variants records (corresponding to 3,980 unique genomic positions).
The following variants, contained within ±100kb of BIN1, have been found to be associated with Alzheimer's disease in a GWAS study:
NIAGADS GWAS: Alzheimer's Disease
Variants contained within ±100kb of BIN1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.
Click on accession numbers to view a detailed report about the dataset or to request access to the data.
Variants contained within ±100kb of BIN1 that have genome-wide significance in a NIAGADS Alzheimer's Disease GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.
Click on accession numbers to view a detailed report about the dataset or to request access to the data.
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| Relative Position | Variant | ADSP? | Allele | p-Value | Track | Accession |
|---|---|---|---|---|---|---|
| downstream | T | 6.9e-44 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 5.4e-28 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 3.1e-27 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 3.8e-27 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 1.0e-26 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 1.7e-26 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | A | 1.1e-25 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 1.6e-25 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 4.5e-21 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | T | 6.1e-18 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 6.5e-18 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | G | 2.2e-17 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 3.3e-17 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 3.9e-17 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 4.0e-17 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 5.1e-17 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 6.0e-17 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | C | 6.4e-17 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 2.0e-16 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 2.1e-16 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 3.6e-16 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 3.7e-16 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | C | 7.5e-16 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 8.9e-16 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | C | 1.3e-15 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 9.8e-15 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 4.2e-14 | ADGC 2011: Stages 1 and 2 | NG00027 | ||
| downstream | G | 4.5e-14 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 4.6e-14 | ADGC 2011: Stages 1 and 2 | NG00027 | ||
| downstream | G | 7.4e-14 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 1.0e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 1.1e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 1.1e-13 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 1.5e-13 | ADGC 2011: Adjusted Stages 1 and 2 | NG00027 | ||
| downstream | A | 1.5e-13 | ADGC 2011: Adjusted Stages 1 and 2 | NG00027 | ||
| downstream | T | 1.6e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 1.7e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 1.7e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 2.1e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.1e-13 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | G | 2.3e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 2.5e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 2.8e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.9e-13 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | C | 3.2e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 3.2e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 3.4e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 3.8e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 3.9e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 4.7e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 4.9e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 4.9e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 5.4e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 5.4e-13 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | G | 5.5e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | T | 7.6e-13 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | C | 7.7e-13 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | C | 7.8e-13 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 7.9e-13 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 7.9e-13 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | A | 8.1e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 8.9e-13 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 1.2e-12 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 1.5e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | G | 1.7e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.5e-12 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 2.6e-12 | ADGC 2011: Stages 1 and 2 | NG00027 | ||
| in gene | A | 2.6e-12 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | C | 2.7e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 2.9e-12 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 3.0e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 3.1e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 3.4e-12 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 3.9e-12 | ADGC 2011: Adjusted Stages 1 and 2 | NG00027 | ||
| in gene | A | 7.4e-12 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 7.8e-12 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 1.7e-11 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 2.5e-11 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.5e-11 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.6e-11 | ADGC 2011: Adjusted Stage 1 | NG00027 | ||
| downstream | A | 2.8e-11 | ADGC 2011: Adjusted Stage 1 | NG00027 | ||
| downstream | A | 2.9e-11 | ADGC 2011: Stage 1 | NG00027 | ||
| downstream | A | 3.1e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 3.1e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 3.1e-11 | ADGC 2011: Stage 1 | NG00027 | ||
| in gene | T | 3.2e-11 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 3.4e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 3.7e-11 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 4.9e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| in gene | C | 5.4e-11 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 7.2e-11 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | T | 7.4e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 7.7e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 8.3e-11 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 1.2e-10 | ADGC 2011: Adjusted Stage 1 | NG00027 | ||
| downstream | A | 1.3e-10 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | G | 1.3e-10 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 1.6e-10 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 1.9e-10 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 3.0e-10 | ADGC 2011: Stage 1 | NG00027 | ||
| in gene | T | 3.9e-10 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | C | 4.7e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 5.2e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 5.3e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 5.3e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 6.1e-10 | Transethnic LOAD: All Samples | NG00056 | ||
| in gene | A | 6.8e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 8.3e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | T | 8.5e-10 | IGAP (2013): ADGC Subset | NG00053 | ||
| in gene | N/A | C | 8.9e-10 | IGAP 2013: Stages 1 and 2 | NG00036 | |
| downstream | A | 9.4e-10 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 1.2e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 1.2e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| in gene | C | 1.2e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 1.2e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 1.4e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | G | 1.6e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 1.7e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 1.9e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | C | 2.1e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 2.2e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 2.2e-9 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | G | 2.3e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 2.4e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.6e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | C | 2.6e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 2.7e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 2.7e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 2.9e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | C | 3.0e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | N/A | C | 3.6e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | |
| in gene | T | 3.7e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 4.2e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 4.2e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 4.7e-9 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| in gene | T | 5.4e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 6.0e-9 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| in gene | C | 6.2e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 6.5e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 6.6e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | T | 6.6e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | C | 6.8e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | T | 6.9e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | C | 7.2e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | C | 7.2e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 7.2e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | T | 7.2e-9 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 7.9e-9 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| in gene | A | 8.0e-9 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| in gene | A | 8.1e-9 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 8.3e-9 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 8.9e-9 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 8.9e-9 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | C | 9.0e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | T | 9.1e-9 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 9.2e-9 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| downstream | A | 9.2e-9 | Transethnic LOAD: All Samples | NG00056 | ||
| in gene | A | 1.1e-8 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| downstream | A | 1.1e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 1.2e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 1.2e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 1.2e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 1.3e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| in gene | T | 1.3e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| in gene | T | 1.3e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 1.4e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 1.4e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 1.4e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 1.5e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 1.5e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 1.5e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 1.7e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 1.8e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| in gene | T | 1.8e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | A | 2.0e-8 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| downstream | C | 2.1e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 2.2e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | C | 2.2e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 2.2e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 2.5e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 2.6e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 2.6e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| in gene | C | 2.6e-8 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| in gene | A | 3.0e-8 | Transethnic LOAD: APOE e4 Non-Carriers | NG00056 | ||
| downstream | A | 3.1e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 3.4e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 3.5e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 3.6e-8 | Transethnic LOAD: All Samples | NG00056 | ||
| downstream | T | 3.7e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 3.8e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | T | 3.9e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 4.0e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 4.0e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 4.0e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | T | 4.0e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 4.2e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| in gene | T | 4.3e-8 | IGAP 2013: Stages 1 and 2 | NG00036 | ||
| downstream | A | 4.4e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | T | 4.4e-8 | AD Age of Onset Survival (IGAP) | NG00058 | ||
| downstream | A | 4.4e-8 | IGAP (2013): ADGC Subset | NG00053 | ||
| downstream | A | 4.5e-8 | IGAP 2013: Stage 1 | NG00036 | ||
| downstream | A | 4.8e-8 | Transethnic LOAD: All Samples | NG00056 |
NHGRI GWAS: Alzheimer's Disease
Variants contained within ±100kb of BIN1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.
Variants contained within ±100kb of BIN1 that are associated with Alzheimer's disease in the NHGRI GWAS Catalog.
The following variants, contained within ±100kb of BIN1, have been associated with AD-relevant neuropathologies in a GWAS study:
NIAGADS GWAS: AD biomarkers and related neuropathologies
Variants contained within ±100kb of BIN1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.
Click on accession numbers to view a detailed report about the dataset or to request access to the data.
Variants contained within ±100kb of BIN1 that have genome-wide significance in a NIAGADS GWAS summary statistics dataset; supported by a p-value < 5 x 10-8. For exome array studies, a cutoff of p-value < 1 x 10-3 was used.
Click on accession numbers to view a detailed report about the dataset or to request access to the data.
NHGRI GWAS: Other Traits (incl. related neuropathologies and AD biomarkers)
Variants contained within ±100kb of BIN1 that are associated with a trait in the NHGRI GWAS Catalog.
Variants contained within ±100kb of BIN1 that are associated with a trait in the NHGRI GWAS Catalog.
Functional Genomics
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Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)
Explore all functional genomics annotations within the region of the BIN1 gene (chr2:127805603-127864931)
Transcription Factor Binding Site Overlap in Gene Promoter Region (ENCODE ChIP-SEQ)
ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.
ChIP-Seq sites for transcription factor binding (from selected brain-relevant ENCODE tracks) within the promoter region of this gene. See methods for more information.
Functional Annotation
Gene Ontology
Functional annotations were obtained from UniProt-GOA gene association files.
Click on a term accession number to view term details at the Gene Ontology Consortium.
Functional annotations were obtained from UniProt-GOA gene association files.
Click on a term accession number to view term details at the Gene Ontology Consortium.
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| Ontology | GO Accession | Term | Evidence Code |
|---|---|---|---|
| BP | GO:0030154 | cell differentiation | IEA |
| BP | GO:0008283 | cell proliferation | TAS |
| BP | GO:0006897 | endocytosis | IEA |
| BP | GO:0060988 | lipid tube assembly | IMP |
| BP | GO:0061024 | membrane organization | TAS |
| BP | GO:0007275 | multicellular organism development | IEA |
| BP | GO:0042692 | muscle cell differentiation | IEA |
| BP | GO:0051647 | nucleus localization | IEA |
| BP | GO:0006997 | nucleus organization | IMP |
| BP | GO:0043065 | positive regulation of apoptotic process | IMP,IDA |
| BP | GO:0048711 | positive regulation of astrocyte differentiation | IMP |
| BP | GO:0071156 | regulation of cell cycle arrest | IDA |
| BP | GO:0030100 | regulation of endocytosis | IEA |
| BP | GO:0045664 | regulation of neuron differentiation | IMP |
| BP | GO:0016032 | viral process | IEA |
| CC | GO:0015629 | actin cytoskeleton | TAS |
| CC | GO:0030424 | axon | IDA |
| CC | GO:0043194 | axon initial segment | ISS |
| CC | GO:0005737 | cytoplasm | IDA,IEA |
| CC | GO:0005829 | cytosol | IDA,TAS |
| CC | GO:0031674 | I band | ISS |
| CC | GO:0060987 | lipid tube | IMP |
| CC | GO:0016020 | membrane | IDA |
| CC | GO:0033268 | node of Ranvier | ISS |
| CC | GO:0005635 | nuclear envelope | IEA |
| CC | GO:0005634 | nucleus | IEA |
| CC | GO:0030315 | T-tubule | ISS |
| CC | GO:0030018 | Z disc | ISS |
| MF | GO:0051015 | actin filament binding | IDA |
| MF | GO:0042802 | identical protein binding | IPI |
| MF | GO:0005515 | protein binding | IPI |
| MF | GO:0070063 | RNA polymerase binding | IPI |
| MF | GO:0048156 | tau protein binding | IPI,IEA |
KEGG Pathways
Click on a pathway accession number to view term details at KEGG.
Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.
Click on a pathway accession number to view term details at KEGG.
Click on the number in the Find Similar column to get a list of genes annotated by the associated pathway.
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| Pathway | KEGG Accession | Graph |
|---|---|---|
| Endocytosis | hsa04144 |
|
| Fc gamma R-mediated phagocytosis | hsa04666 |
|
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