Item | Value |
---|---|
geneid | 100287238 |
ensemblid | ENSG00000232399.4 |
hgncid | 44441 |
symbol | USP17L13 |
name | ubiquitin specific peptidase 17 like family member 13 |
refseq_nuc | NM_001256855.1 |
refseq_prot | NP_001243784.1 |
ensembl_nuc | ENST00000429667.1 |
ensembl_prot | ENSP00000414392.1 |
mane_status | MANE Select |
chr | chr4 |
start | 9224896 |
end | 9226488 |
strand | + |
ver | v1.2 |
region | chr4:9224896-9226488 |
region5000 | chr4:9219896-9231488 |
regionname0 | USP17L13_chr4_9224896_9226488 |
regionname5000 | USP17L13_chr4_9219896_9231488 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 0/0 | 51 | 4 | 0 | 4 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | MEDDS others(46): Show |
chr4 | 9219896 | 9231488 |
a0002 | 0/0 | 530 | 2 | 0 | 2 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | MEDDS others(525): Show |
chr4 | 9219896 | 9231488 |
a0003 | 1/0 | 530 | 1 | 0 | 0 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | MEEDS others(525): Show |
chr4 | 9219896 | 9231488 |
a0004 | 0/0 | 530 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | MEDDS others(525): Show |
chr4 | 9219896 | 9231488 |
a0005 | 0/0 | 413 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | MEEDS others(408): Show |
chr4 | 9219896 | 9231488 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 0/0 | 1590 | 4 | 0 | 4 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1585): Show |
chr4 | 9219896 | 9231488 | ||
a0002c0002 | 0/0 | 1590 | 2 | 0 | 2 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1585): Show |
chr4 | 9219896 | 9231488 | ||
a0003c0004 | 1/0 | 1590 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1585): Show |
chr4 | 9219896 | 9231488 | ||
a0004c0003 | 0/0 | 1590 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1585): Show |
chr4 | 9219896 | 9231488 | ||
a0005c0005 | 0/0 | 1590 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1585): Show |
chr4 | 9219896 | 9231488 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001 | 0/0 | 1593 | 4 | 0 | 4 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1588): Show |
chr4 | 9219896 | 9231488 |
a0002c0002t0002 | 0/0 | 1593 | 2 | 0 | 2 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1588): Show |
chr4 | 9219896 | 9231488 |
a0003c0004t0001 | 1/0 | 1593 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1588): Show |
chr4 | 9219896 | 9231488 |
a0004c0003t0001 | 0/0 | 1593 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1588): Show |
chr4 | 9219896 | 9231488 |
a0005c0005t0001 | 0/0 | 1593 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | ATGGA others(1588): Show |
chr4 | 9219896 | 9231488 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0001g0000 | 0/0 | 4 | 0 | 4 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
a0002c0002t0002g0000 | 0/0 | 2 | 0 | 2 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
a0003c0004t0001g0000 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
a0004c0003t0001g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
a0005c0005t0001g0000 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG01928 | hp1 | a0002 | c0002 | t0002 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG01928 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG01993 | hp1 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG01993 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG02056 | hp1 | a0004 | c0003 | t0001 | g0000 | EAS | KHV | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG02056 | hp2 | a0005 | c0005 | t0001 | g0000 | EAS | KHV | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG02273 | hp1 | a0002 | c0002 | t0002 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
HG02273 | hp2 | a0001 | c0001 | t0001 | g0000 | AMR | PEL | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
homoSapiens | grch38p0 | a0003 | c0004 | t0001 | g0000 | REF | REF | USP17L13_chr4_9219896_9231488 | USP17L13 | chr4 | 9219896 | 9231488 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9224904 | G | C | 3 | a0001 a0002 a0004 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
missense_variant | MODERATE | c.9G>C | p.Glu3Asp | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 9/1593 | 9/1593 | 3/530 | chr4 | 9224904 | |||
chr4:9224969 | T | C | 3 | a0001 a0002 a0004 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
missense_variant | MODERATE | c.74T>C | p.Leu25Pro | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 74/1593 | 74/1593 | 25/530 | chr4 | 9224969 | |||
chr4:9225051 | T | A | 1 | a0001 | 4 | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
stop_gained | HIGH | c.156T>A | p.Cys52* | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 156/1593 | 156/1593 | 52/530 | chr4 | 9225051 | |||
chr4:9225062 | T | C | 3 | a0001 a0002 a0004 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
missense_variant | MODERATE | c.167T>C | p.Val56Ala | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 167/1593 | 167/1593 | 56/530 | chr4 | 9225062 | |||
chr4:9225068 | A | T | 3 | a0001 a0002 a0004 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
missense_variant | MODERATE | c.173A>T | p.Glu58Val | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 173/1593 | 173/1593 | 58/530 | chr4 | 9225068 | |||
chr4:9225452 | C | A | 3 | a0001 a0002 a0004 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
missense_variant | MODERATE | c.557C>A | p.Pro186His | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 557/1593 | 557/1593 | 186/530 | chr4 | 9225452 | |||
chr4:9225583 | G | A | 1 | a0001 | 4 | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
missense_variant | MODERATE | c.688G>A | p.Ala230Thr | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 688/1593 | 688/1593 | 230/530 | chr4 | 9225583 | |||
chr4:9225770 | C | A | 1 | a0002 | 2 | HG01928.hp1 HG02273.hp1 |
missense_variant | MODERATE | c.875C>A | p.Ala292Asp | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 875/1593 | 875/1593 | 292/530 | chr4 | 9225770 | |||
chr4:9225805 | C | A | 1 | a0002 | 2 | HG01928.hp1 HG02273.hp1 |
missense_variant | MODERATE | c.910C>A | p.Gln304Lys | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 910/1593 | 910/1593 | 304/530 | chr4 | 9225805 | |||
chr4:9225809 | C | T | 1 | a0002 | 2 | HG01928.hp1 HG02273.hp1 |
missense_variant | MODERATE | c.914C>T | p.Pro305Leu | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 914/1593 | 914/1593 | 305/530 | chr4 | 9225809 | |||
chr4:9225823 | C | A | 2 | a0002 a0004 |
3 | HG01928.hp1 HG02056.hp1 HG02273.hp1 |
missense_variant | MODERATE | c.928C>A | p.Gln310Lys | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 928/1593 | 928/1593 | 310/530 | chr4 | 9225823 | |||
chr4:9225824 | A | C | 2 | a0002 a0004 |
3 | HG01928.hp1 HG02056.hp1 HG02273.hp1 |
missense_variant | MODERATE | c.929A>C | p.Gln310Pro | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 929/1593 | 929/1593 | 310/530 | chr4 | 9225824 | |||
chr4:9225875 | G | A | 1 | a0001 | 4 | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
missense_variant | MODERATE | c.980G>A | p.Gly327Glu | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 980/1593 | 980/1593 | 327/530 | chr4 | 9225875 | |||
chr4:9225964 | G | T | 3 | a0002 a0004 a0005 |
4 | HG01928.hp1 HG02056.hp1 HG02056.hp2 others(1): Show |
missense_variant | MODERATE | c.1069G>T | p.Ala357Ser | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1069/1593 | 1069/1593 | 357/530 | chr4 | 9225964 | |||
chr4:9226103 | C | T | 1 | a0005 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1208C>T | p.Ala403Val | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1208/1593 | 1208/1593 | 403/530 | chr4 | 9226103 | |||
chr4:9226137 | C | A | 1 | a0005 | 1 | HG02056.hp2 | stop_gained | HIGH | c.1242C>A | p.Cys414* | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1242/1593 | 1242/1593 | 414/530 | chr4 | 9226137 | |||
chr4:9226261 | G | A | 1 | a0001 | 4 | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
missense_variant | MODERATE | c.1366G>A | p.Glu456Lys | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1366/1593 | 1366/1593 | 456/530 | chr4 | 9226261 | |||
chr4:9226369 | T | A | 3 | a0002 a0004 a0005 |
4 | HG01928.hp1 HG02056.hp1 HG02056.hp2 others(1): Show |
missense_variant | MODERATE | c.1474T>A | p.Ser492Thr | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1474/1593 | 1474/1593 | 492/530 | chr4 | 9226369 | |||
chr4:9226387 | G | C | 1 | a0005 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1492G>C | p.Glu498Gln | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1492/1593 | 1492/1593 | 498/530 | chr4 | 9226387 | |||
chr4:9226400 | C | A | 1 | a0005 | 1 | HG02056.hp2 | missense_variant | MODERATE | c.1505C>A | p.Thr502Asn | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1505/1593 | 1505/1593 | 502/530 | chr4 | 9226400 | |||
chr4:9226488 | A | G | 1 | a0002 | 2 | HG01928.hp1 HG02273.hp1 |
stop_lost&splice_region_variant | HIGH | c.1593A>G | p.Ter531Trpext*? | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1593/1593 | 1593/1593 | 531/530 | chr4 | 9226488 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr4:9224922 | T | A | 3 | a0001c0001 a0002c0002 a0004c0003 |
7 | HG01928.hp1 HG01928.hp2 HG01993.hp1 others(4): Show |
synonymous_variant | LOW | c.27T>A | p.Gly9Gly | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 27/1593 | 27/1593 | 9/530 | chr4 | 9224922 | |||
chr4:9225264 | C | T | 1 | a0004c0003 | 1 | HG02056.hp1 | synonymous_variant | LOW | c.369C>T | p.Cys123Cys | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 369/1593 | 369/1593 | 123/530 | chr4 | 9225264 | |||
chr4:9225276 | T | G | 2 | a0002c0002 a0004c0003 |
3 | HG01928.hp1 HG02056.hp1 HG02273.hp1 |
synonymous_variant | LOW | c.381T>G | p.Thr127Thr | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 381/1593 | 381/1593 | 127/530 | chr4 | 9225276 | |||
chr4:9225444 | A | G | 2 | a0002c0002 a0004c0003 |
3 | HG01928.hp1 HG02056.hp1 HG02273.hp1 |
synonymous_variant | LOW | c.549A>G | p.Val183Val | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 549/1593 | 549/1593 | 183/530 | chr4 | 9225444 | |||
chr4:9225708 | C | T | 1 | a0005c0005 | 1 | HG02056.hp2 | synonymous_variant | LOW | c.813C>T | p.Thr271Thr | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 813/1593 | 813/1593 | 271/530 | chr4 | 9225708 | |||
chr4:9225840 | T | C | 2 | a0002c0002 a0004c0003 |
3 | HG01928.hp1 HG02056.hp1 HG02273.hp1 |
synonymous_variant | LOW | c.945T>C | p.Leu315Leu | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 945/1593 | 945/1593 | 315/530 | chr4 | 9225840 | |||
chr4:9225975 | T | A | 1 | a0005c0005 | 1 | HG02056.hp2 | synonymous_variant | LOW | c.1080T>A | p.Thr360Thr | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1080/1593 | 1080/1593 | 360/530 | chr4 | 9225975 | |||
chr4:9226038 | C | T | 1 | a0001c0001 | 4 | HG01928.hp2 HG01993.hp1 HG01993.hp2 others(1): Show |
synonymous_variant | LOW | c.1143C>T | p.His381His | USP17L13 | ENSG00000232399.4 | transcript | ENST00000429667.1 | protein_coding | 1/1 | 1143/1593 | 1143/1593 | 381/530 | chr4 | 9226038 |
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 |
---|