chr3:52584787:T>C Detail (hg19) (PBRM1, UQCC5)

Information

Genome

Assembly Position
hg19 chr3:52,584,787-52,584,787
hg38 chr3:52,550,771-52,550,771 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018313.4:c.4335A>G NP_060783.3:p.Pro1445=
Ensemble ENST00000296302.11:c.4656A>G ENST00000296302.11:p.Pro1552=
ENST00000337303.8:c.4335A>G ENST00000337303.8: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
Links
Type Database ID Link
Gene MIM 606083 OMIM
HGNC 30064 HGNC
Ensembl ENSG00000163939 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12518406 TogoVar
COSMIC COSM4002744 COSMIC
MONDO
Type Database ID Link
Gene MIM 620435 OMIM
HGNC 37257 HGNC
Ensembl ENSG00000168273 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv12518406 TogoVar
COSMIC COSM4002744 COSMIC
MONDO
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

DescrptionSourceLinks
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
hg19
Position
chr3:52,584,787-52,584,787
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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