geneid | 11077 |
---|---|
ensemblid | ENSG00000160207.9 |
hgncid | 5226 |
symbol | HSF2BP |
name | heat shock transcription factor 2 binding protein |
refseq_nuc | NM_007031.2 |
refseq_prot | NP_008962.1 |
ensembl_nuc | ENST00000291560.7 |
ensembl_prot | ENSP00000291560.2 |
mane_status | MANE Select |
chr | chr21 |
start | 43529186 |
end | 43659488 |
strand | - |
ver | v1.2 |
region | chr21:43529186-43659488 |
region5000 | chr21:43524186-43664488 |
regionname0 | HSF2BP_chr21_43529186_43659488 |
regionname5000 | HSF2BP_chr21_43524186_43664488 |
ahapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 334 | 2 | 0 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | copy fasta | chr21 | 43524186 | 43664488 |
chapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c0001 | 1/1 | 1005 | 2 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | copy fasta | chr21 | 43524186 | 43664488 |
thapid | grch38chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
t0001 | 1/1 | 896 | 2 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | copy fasta | chr21 | 43524186 | 43664488 |
ghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
g0002 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
achapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 1005 | 2 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | copy fasta | chr21 | 43524186 | 43664488 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/1 | 1900 | 2 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | copy fasta | chr21 | 43524186 | 43664488 |
actghapid | grch38/chm13v2 1/0: The haplotype type is the same as GRCh380/1: The haplotype type is the same as CHM13v20/0: The haplotype type matches neither GRCh38 nor CHM13v21/1: The haplotype type is the same on both GRCh38 and CHM13v2
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
a0001c0001t0001g0002 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
homoSapiens_chm13v2 | hp1 | a0001 | c0001 | t0001 | g0002 | REF | REF | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
homoSapiens_grch38 | hp1 | a0001 | c0001 | t0001 | g0001 | REF | REF | HSF2BP_chr21_43524186_43664488 | HSF2BP | chr21 | 43524186 | 43664488 |
chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|
chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr21:43532348
|
A | T | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.797-2386T>A | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 8/8 | chr21 | 43532348 | ||||||
chr21:43532351
|
A | T | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.797-2389T>A | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 8/8 | chr21 | 43532351 | ||||||
chr21:43581346
|
T | A | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.796+10879A>T | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 8/8 | chr21 | 43581346 | ||||||
chr21:43582028
|
C | A | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.796+10197G>T | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 8/8 | chr21 | 43582028 | ||||||
chr21:43582037
|
G | T | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.796+10188C>A | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 8/8 | chr21 | 43582037 | ||||||
chr21:43604221
|
G | C | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.692+9609C>G | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 7/8 | chr21 | 43604221 | ||||||
chr21:43604453
|
C | A | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.692+9377G>T | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 7/8 | chr21 | 43604453 | ||||||
chr21:43616052
|
A | T | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.575-2105T>A | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 6/8 | chr21 | 43616052 | ||||||
chr21:43650796
|
T | C | 1 | a0001c0001t0001g0002 | 1 | homoSapiens_chm13v2.hp1 | intron_variant | MODIFIER | c.187+5791A>G | HSF2BP | ENSG00000160207.9 | transcript | ENST00000291560.7 | protein_coding | 3/8 | chr21 | 43650796 |