chr3:52550771:T>C Detail (hg38) (PBRM1, UQCC5)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:52,584,787-52,584,787 View the variant detail on this assembly version. |
hg38 | chr3:52,550,771-52,550,771 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_018313.4:c.4335A>G | NP_060783.3:p.Pro1445= |
Ensemble | ENST00000356770.8:c.4395A>G | ENST00000356770.8:p.Pro1465= |
ENST00000394830.7:c.4335A>G | ENST00000394830.7:p.Pro1445= |
Type | Transcript | Protein |
---|---|---|
RefSeq | ||
Ensemble | ENST00000476842.1:c.151+13865T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.535 |
ToMMo:0.531 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.431 |
Prediction
ClinVar
Clinical Significance | |
Review star | [No Data.] |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.003 | Unipolar Depression | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
0.002 | Mood Disorders | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
0.003 | major depressive disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | bipolar disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
0.270 | bipolar disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | Unipolar Depression | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | major depressive disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | bipolar disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | Mood Disorders | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | Unipolar Depression | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | Unipolar Depression | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | Mood Disorders | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | major depressive disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | major depressive disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
<0.001 | bipolar disorder | Suggestive but notable results were (a) gene-based tests suggesting roles for ad... | BeFree | 21042317 | Detail |
0.002 | Mood Disorders | [Meta-analysis of genome-wide association data identifies a risk locus for major... | GAD | 20081856 | Detail |
<0.001 | Major affective disorder 7 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 9 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
0.003 | bipolar disorder | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 1 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 5 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 8 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 2 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 6 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
<0.001 | MAJOR AFFECTIVE DISORDER 4 | Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybr... | BeFree | 22560537 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
Suggestive but notable results were (a) gene-based tests suggesting roles for adenylate cyclase 3 (A... | DisGeNET | Detail |
[Meta-analysis of genome-wide association data identifies a risk locus for major mood disorders on 3... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Common genetic polymorphisms at chromosome 3p21.1, including rs2251219 in polybromo 1 (PBRM1), have ... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- Genome
- hg38
- Position
- chr3:52,550,771-52,550,771
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1070
- Mean of sample read depth (HGVD)
- 33.72
- Standard deviation of sample read depth (HGVD)
- 16.28
- Number of reference allele (HGVD)
- 995
- Number of alternative allele (HGVD)
- 1145
- Allele Frequency (HGVD)
- 0.5350467289719626
- Gene Symbol (HGVD)
- PBRM1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2251219
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5308
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8897
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8628
- East Asian Allele Counts (ExAC)
- 3722
- East Asian Heterozygous Counts (ExAC)
- 2086
- East Asian Homozygous Counts (ExAC)
- 818
- East Asian Allele Frequency (ExAC)
- 0.43138618451553085
- Chromosome Counts in All Race (ExAC)
- 121172
- Allele Counts in All Race (ExAC)
- 46315
- Heterozygous Counts in All Race (ExAC)
- 27367
- Homozygous Counts in All Race (ExAC)
- 9474
- Allele Frequency in All Race (ExAC)
- 0.3822252665632324
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