Item | Value |
---|---|
geneid | 100287205 |
ensemblid | ENSG00000227551.1 |
hgncid | 44440 |
symbol | USP17L12 |
name | ubiquitin specific peptidase 17 like family member 12 |
refseq_nuc | NM_001256853.1 |
refseq_prot | NP_001243782.1 |
ensembl_nuc | ENST00000415041.1 |
ensembl_prot | ENSP00000389443.1 |
mane_status | MANE Select |
chr | chr4 |
start | 9220152 |
end | 9221744 |
strand | + |
ver | v1.2 |
region | chr4:9220152-9221744 |
region5000 | chr4:9215152-9226744 |
regionname0 | USP17L12_chr4_9220152_9221744 |
regionname5000 | USP17L12_chr4_9215152_9226744 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 530 | 3 | 0 | 1 | 2 | 0 | 0 | 1 | USP17L12_chr4_9215152_9226744 | USP17L12 | MEDDS others(525): Show |
chr4 | 9215152 | 9226744 |
a0002 | 0/0 | 530 | 2 | 0 | 1 | 1 | 0 | 0 | 1 | USP17L12_chr4_9215152_9226744 | USP17L12 | MEEDS others(525): Show |
chr4 | 9215152 | 9226744 |
a0003 | 0/0 | 530 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | MEDDS others(525): Show |
chr4 | 9215152 | 9226744 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1590 | 3 | 0 | 1 | 2 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1585): Show |
chr4 | 9215152 | 9226744 | ||
a0002c0002 | 0/0 | 1590 | 2 | 0 | 1 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1585): Show |
chr4 | 9215152 | 9226744 | ||
a0003c0003 | 0/0 | 1590 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1585): Show |
chr4 | 9215152 | 9226744 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1593 | 3 | 0 | 1 | 2 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1588): Show |
chr4 | 9215152 | 9226744 |
a0002c0002t0001 | 0/0 | 1593 | 2 | 0 | 1 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1588): Show |
chr4 | 9215152 | 9226744 |
a0003c0003t0002 | 0/0 | 1593 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | ATGGA others(1588): Show |
chr4 | 9215152 | 9226744 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0000 | 0/0 | 3 | 0 | 1 | 2 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
a0002c0002t0001g0000 | 0/0 | 2 | 0 | 1 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
a0003c0003t0002g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG02056 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | KHV | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
HG02056 | hp2 | a0003 | c0003 | t0002 | g0000 | EAS | KHV | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
HG02148 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
HG02148 | hp2 | a0002 | c0002 | t0001 | g0000 | AMR | PEL | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
NA19004 | hp1 | a0001 | c0001 | t0001 | g0000 | EAS | JPT | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
NA19004 | hp2 | a0002 | c0002 | t0001 | g0000 | EAS | JPT | USP17L12_chr4_9215152_9226744 | USP17L12 | chr4 | 9215152 | 9226744 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9220160 | A | C | 2 | a0001 a0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
missense_variant | MODERATE | c.9A>C | p.Glu3Asp | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 9/1593 | 9/1593 | 3/530 | chr4 | 9220160 | |||
chr4:9220366 | A | G | 2 | a0001 a0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
missense_variant | MODERATE | c.215A>G | p.Asn72Ser | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 215/1593 | 215/1593 | 72/530 | chr4 | 9220366 | |||
chr4:9220948 | T | C | 2 | a0001 a0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
missense_variant | MODERATE | c.797T>C | p.Met266Thr | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 797/1593 | 797/1593 | 266/530 | chr4 | 9220948 | |||
chr4:9220960 | T | A | 2 | a0001 a0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
missense_variant | MODERATE | c.809T>A | p.Leu270His | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 809/1593 | 809/1593 | 270/530 | chr4 | 9220960 | |||
chr4:9221026 | C | A | 1 | a0003 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.875C>A | p.Ala292Asp | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 875/1593 | 875/1593 | 292/530 | chr4 | 9221026 | |||
chr4:9221061 | C | A | 1 | a0003 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.910C>A | p.Gln304Lys | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 910/1593 | 910/1593 | 304/530 | chr4 | 9221061 | |||
chr4:9221065 | C | T | 1 | a0003 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.914C>T | p.Pro305Leu | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 914/1593 | 914/1593 | 305/530 | chr4 | 9221065 | |||
chr4:9221079 | C | A | 2 | a0001 a0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
missense_variant | MODERATE | c.928C>A | p.Pro310Thr | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 928/1593 | 928/1593 | 310/530 | chr4 | 9221079 | |||
chr4:9221362 | C | A | 1 | a0001 | 3 | HG02056.hp1 HG02148.hp1 NA19004.hp1 |
missense_variant | MODERATE | c.1211C>A | p.Thr404Lys | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 1211/1593 | 1211/1593 | 404/530 | chr4 | 9221362 | |||
chr4:9221744 | A | G | 1 | a0003 | 1 | HG02056.hp2 | stop_lost&splice_region_variant | HIGH | c.1593A>G | p.Ter531Trpext*? | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 1593/1593 | 1593/1593 | 531/530 | chr4 | 9221744 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9221318 | A | G | 2 | a0001c0001 a0003c0003 |
4 | HG02056.hp1 HG02056.hp2 HG02148.hp1 others(1): Show |
synonymous_variant | LOW | c.1167A>G | p.Arg389Arg | USP17L12 | ENSG00000227551.1 | transcript | ENST00000415041.1 | protein_coding | 1/1 | 1167/1593 | 1167/1593 | 389/530 | chr4 | 9221318 |
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 |
---|