Item | Value |
---|---|
geneid | 3127 |
ensemblid | ENSG00000198502.6 |
hgncid | 4953 |
symbol | HLA-DRB5 |
name | major histocompatibility complex, class II, DR beta 5 |
refseq_nuc | NM_002125.4 |
refseq_prot | NP_002116.2 |
ensembl_nuc | ENST00000374975.4 |
ensembl_prot | ENSP00000364114.3 |
mane_status | MANE Select |
chr | chr6 |
start | 32517353 |
end | 32530287 |
strand | - |
ver | v1.2 |
region | chr6:32517353-32530287 |
region5000 | chr6:32512353-32535287 |
regionname0 | HLA-DRB5_chr6_32517353_32530287 |
regionname5000 | HLA-DRB5_chr6_32512353_32535287 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/0 | 266 | 12 | 0 | 0 | 6 | 0 | 5 | 4 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | MVCLK others(261): Show |
chr6 | 32512353 | 32535287 |
a0002 | 0/0 | 266 | 7 | 0 | 0 | 4 | 0 | 3 | 4 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | MVCLK others(261): Show |
chr6 | 32512353 | 32535287 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/0 | 798 | 12 | 0 | 0 | 6 | 0 | 5 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | ATGGT others(793): Show |
chr6 | 32512353 | 32535287 | ||
a0002c0002 | 0/0 | 798 | 7 | 0 | 0 | 4 | 0 | 3 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | ATGGT others(793): Show |
chr6 | 32512353 | 32535287 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 1/0 | 1250 | 12 | 0 | 0 | 6 | 0 | 5 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | ATAGT others(1245): Show |
chr6 | 32512353 | 32535287 |
a0002c0002t0001 | 0/0 | 1250 | 7 | 0 | 0 | 4 | 0 | 3 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | ATAGT others(1245): Show |
chr6 | 32512353 | 32535287 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0002 | 0/0 | 3 | 0 | 0 | 1 | 0 | 2 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0001c0001t0001g0003 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0001c0001t0001g0004 | 0/0 | 2 | 0 | 0 | 0 | 0 | 2 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0001c0001t0001g0005 | 1/0 | 2 | 0 | 0 | 0 | 0 | 1 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0001c0001t0001g0006 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0001c0001t0001g0009 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0002c0002t0001g0001 | 0/0 | 5 | 0 | 0 | 3 | 0 | 2 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0002c0002t0001g0007 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
a0002c0002t0001g0008 | 0/0 | 1 | 0 | 0 | 0 | 0 | 1 | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG02155 | hp1 | a0001 | c0001 | t0001 | g0006 | EAS | CDX | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG02155 | hp2 | a0001 | c0001 | t0001 | g0002 | EAS | CDX | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG02683 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG02683 | hp2 | a0002 | c0002 | t0001 | g0001 | SAS | PJL | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG03490 | hp1 | a0001 | c0001 | t0001 | g0004 | SAS | PJL | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG03490 | hp2 | a0002 | c0002 | t0001 | g0001 | SAS | PJL | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG03831 | hp1 | a0002 | c0002 | t0001 | g0008 | SAS | BEB | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG03831 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | BEB | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG04228 | hp1 | a0001 | c0001 | t0001 | g0005 | SAS | STU | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
HG04228 | hp2 | a0001 | c0001 | t0001 | g0002 | SAS | STU | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18954 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18954 | hp2 | a0001 | c0001 | t0001 | g0006 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18959 | hp1 | a0002 | c0002 | t0001 | g0007 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18959 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18982 | hp1 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18982 | hp2 | a0001 | c0001 | t0001 | g0003 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18998 | hp1 | a0001 | c0001 | t0001 | g0009 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
NA18998 | hp2 | a0002 | c0002 | t0001 | g0001 | EAS | JPT | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
homoSapiens | grch38p0 | a0001 | c0001 | t0001 | g0005 | REF | REF | HLA-DRB5_chr6_32512353_32535287 | HLA-DRB5 | chr6 | 32512353 | 32535287 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:32522076 | A | C | 1 | a0002 | 7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
missense_variant | MODERATE | c.199T>G | p.Leu67Val | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/6 | 262/1250 | 199/801 | 67/266 | chr6 | 32522076 | |||
chr6:32522079 | C | T | 1 | a0002 | 7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
missense_variant | MODERATE | c.196G>A | p.Asp66Asn | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/6 | 259/1250 | 196/801 | 66/266 | chr6 | 32522079 | |||
chr6:32522099 | T | C | 1 | a0002 | 7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
missense_variant | MODERATE | c.176A>G | p.Asp59Gly | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/6 | 239/1250 | 176/801 | 59/266 | chr6 | 32522099 |
view | 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 |
---|
view | 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 |
---|
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr6:32518679 | A | G | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.653-13T>C | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 3/5 | chr6 | 32518679 | |||||||
chr6:32520101 | A | G | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.371-450T>C | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32520101 | |||||||
chr6:32520235 | T | C | 8 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(5): Show |
17 | HG02155.hp1 HG02155.hp2 HG02683.hp1 others(14): Show |
intron_variant | MODIFIER | c.371-584A>G | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32520235 | |||||||
chr6:32520355 | A | C | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.371-704T>G | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32520355 | |||||||
chr6:32521801 | C | CCT | 1 | a0001c0001t0001g0004 | 2 | HG02683.hp1 HG03490.hp1 |
intron_variant | MODIFIER | c.370+102_370+103dup others(2): Show |
HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521801 | |||||||
chr6:32521801 | C | CCTCT | 1 | a0001c0001t0001g0002 | 3 | HG02155.hp2 HG03831.hp2 HG04228.hp2 |
intron_variant | MODIFIER | c.370+100_370+103dup others(4): Show |
HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521801 | |||||||
chr6:32521801 | C | CCTCTCTC others(25): Show |
1 | a0002c0002t0001g0008 | 1 | HG03831.hp1 | intron_variant | MODIFIER | c.370+103_370+104ins others(32): Show |
HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521801 | |||||||
chr6:32521811 | T | TCTCTCTG others(29): Show |
2 | a0002c0002t0001g0001 a0002c0002t0001g0007 |
6 | HG02683.hp2 HG03490.hp2 NA18954.hp1 others(3): Show |
intron_variant | MODIFIER | c.370+93_370+94insTG others(34): Show |
HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521811 | |||||||
chr6:32521813 | A | T | 5 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(2): Show |
10 | HG02155.hp1 HG02155.hp2 HG02683.hp1 others(7): Show |
intron_variant | MODIFIER | c.370+92T>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521813 | |||||||
chr6:32521815 | A | T | 4 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(1): Show |
7 | HG02155.hp1 HG02683.hp1 HG03490.hp1 others(4): Show |
intron_variant | MODIFIER | c.370+90T>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521815 | |||||||
chr6:32521817 | A | T | 3 | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0009 |
5 | HG02155.hp1 NA18954.hp2 NA18959.hp2 others(2): Show |
intron_variant | MODIFIER | c.370+88T>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 2/5 | chr6 | 32521817 | |||||||
chr6:32522888 | C | G | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.101-714G>C | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32522888 | |||||||
chr6:32523791 | T | C | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.101-1617A>G | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32523791 | |||||||
chr6:32525913 | C | T | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.101-3739G>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32525913 | |||||||
chr6:32526517 | CT | C | 2 | a0002c0002t0001g0001 a0002c0002t0001g0008 |
6 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(3): Show |
intron_variant | MODIFIER | c.100+3607delA | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32526517 | |||||||
chr6:32526582 | T | C | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+3543A>G | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32526582 | |||||||
chr6:32526630 | G | C | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+3495C>G | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32526630 | |||||||
chr6:32527436 | C | T | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+2689G>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32527436 | |||||||
chr6:32527497 | C | CAA | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+2626_100+2627d others(4): Show |
HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32527497 | |||||||
chr6:32527930 | G | A | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+2195C>T | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32527930 | |||||||
chr6:32529106 | C | A | 1 | a0001c0001t0001g0006 | 2 | HG02155.hp1 NA18954.hp2 |
intron_variant | MODIFIER | c.100+1019G>T | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32529106 | |||||||
chr6:32529676 | C | T | 3 | a0002c0002t0001g0001 a0002c0002t0001g0007 a0002c0002t0001g0008 |
7 | HG02683.hp2 HG03490.hp2 HG03831.hp1 others(4): Show |
intron_variant | MODIFIER | c.100+449G>A | HLA-DRB5 | ENSG00000198502.6 | transcript | ENST00000374975.4 | protein_coding | 1/5 | chr6 | 32529676 |