| geneid | 390928 |
|---|---|
| ensemblid | ENSG00000183760.11 |
| hgncid | 33781 |
| symbol | ACP7 |
| name | acid phosphatase 7, tartrate resistant (putative) |
| refseq_nuc | NM_001004318.3 |
| refseq_prot | NP_001004318.2 |
| ensembl_nuc | ENST00000331256.10 |
| ensembl_prot | ENSP00000327557.4 |
| mane_status | MANE Select |
| chr | chr19 |
| start | 39084368 |
| end | 39111493 |
| strand | + |
| ver | v1.2 |
| region | chr19:39084368-39111493 |
| region5000 | chr19:39079368-39116493 |
| regionname0 | ACP7_chr19_39084368_39111493 |
| regionname5000 | ACP7_chr19_39079368_39116493 |
| chr:pos | ref | alt | af | annotation | impact | samples | AHAPIDS | ACHAPIDS | ACTHAPIDS | ACTGHAPIDS | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39100315
|
G | A | 0.6542 | synonymous_variant | LOW | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(260): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(34): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(260): Show | 263 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 5/13 | c.594G>A | p.Pro198Pro | 805/2903 | 594/1317 | 198/438 |
| chr:pos | ref | alt | af | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39085110
|
T | C | 0.2338 | 5_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0015others(16): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(91): Show | 94 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/13 | c.-160T>C | 160 | |||||
|
chr19:39085130
|
C | CCCT | 0.2264 | 5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0011a0001c0001t0014a0001c0001t0015others(16): Show | a0001c0001t0011g0166a0001c0001t0011g0167a0001c0001t0011g0168others(88): Show | 91 | 402 | 3 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 2/13 | c.-139_-137dupCCT | 136 | INFO_REALIGN_3_PRIME | ||||
|
chr19:39110552
|
C | T | 0.3259 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(128): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(11): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(128): Show | 131 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*434C>T | 434 | |||||
|
chr19:39110997
|
G | A | 0.2736 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(107): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(107): Show | 110 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*879G>A | 879 | |||||
|
chr19:39111268
|
C | G | 0.2736 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp2 others(107): Show |
a0001a0005a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(6): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030others(107): Show | 110 | 402 | 0 | ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 13/13 | c.*1150C>G | 1150 |
| genename | 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
|
ahapid | alen | total | AFR | AMR | EAS | EUR | SAS | aseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 1/1 | a0001 | 438 | 395 | 82 | 80 | 175 | 16 | 40 | subcellular location copy fasta | chr19 | 39079368 | 39116493 |
| genename | 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
|
chapid | clen | total | AFR | AMR | EAS | EUR | SAS | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | c0001 | 1317 | 111 | 16 | 25 | 48 | 8 | 13 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | t0015 | 1590 | 4 | 0 | 2 | 1 | 0 | 1 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/1 | a0001c0001 | 111 | 16 | 25 | 48 | 8 | 13 | 1317 | copy fasta | chr19 | 39079368 | 39116493 |
| genename | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACP7 | 0/0 | a0001c0001t0015 | 4 | 0 | 2 | 1 | 0 | 1 | 2906 | copy fasta | chr19 | 39079368 | 39116493 |
Click to load Haplotype QTL data...
| pos | S. Strand |
E# Exon Number |
max | median | min | diff | type | haplotypeid | max_hap_list | min_hap_list | symbol | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 39084400 | + | 1 | -0.5397 | -0.5302 | -0.5293 | 0.0104 | acceptor | a0001c0001t0015 | HG04115.hp1 | HG02273.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085092 | + | 2 | 0.5981 | 0.5973 | 0.5848 | 0.0133 | donor | a0001c0001t0015 | NA19070.hp2 | HG02273.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39085390 | + | 2 | -0.7728 | -0.7696 | -0.7527 | 0.0201 | acceptor | a0001c0001t0015 | HG01978.hp2 | HG02273.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098458 | + | 3 | 0.9882 | 0.9865 | 0.9856 | 0.0027 | donor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098658 | + | 3 | -0.9872 | -0.9857 | -0.9856 | 0.0016 | acceptor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39098960 | + | 4 | 0.9969 | 0.9967 | 0.9967 | 0.0002 | donor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 HG02273.hp1 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39099142 | + | 4 | -0.9333 | -0.9333 | -0.9321 | 0.0013 | acceptor | a0001c0001t0015 | HG02273.hp1 | NA19070.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100227 | + | 5 | 0.8014 | 0.8010 | 0.8008 | 0.0006 | donor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100350 | + | 5 | -0.8256 | -0.8254 | -0.8252 | 0.0004 | acceptor | a0001c0001t0015 | NA19070.hp2 | HG04115.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100580 | + | 6 | 0.9939 | 0.9939 | 0.9939 | 0.0000 | donor | a0001c0001t0015 | HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39100642 | + | 6 | -0.9915 | -0.9915 | -0.9915 | 0.0000 | acceptor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100739 | + | 7 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0001c0001t0015 | HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39100853 | + | 7 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0015 | HG01978.hp2 HG02273.hp1 HG04115.hp1 |
NA19070.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39100949 | + | 8 | 0.9991 | 0.9991 | 0.9991 | 0.0000 | donor | a0001c0001t0015 | HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39101056 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0015 | HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
HG01978.hp2 HG02273.hp1 HG04115.hp1 NA19070.hp2 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39101150 | + | 9 | 0.9969 | 0.9968 | 0.9967 | 0.0002 | donor | a0001c0001t0015 | HG04115.hp1 | HG02273.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101207 | + | 9 | -0.9953 | -0.9952 | -0.9952 | 0.0001 | acceptor | a0001c0001t0015 | NA19070.hp2 | HG04115.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101288 | + | 10 | 0.9961 | 0.9959 | 0.9958 | 0.0003 | donor | a0001c0001t0015 | NA19070.hp2 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101355 | + | 10 | -0.9977 | -0.9977 | -0.9976 | 0.0001 | acceptor | a0001c0001t0015 | NA19070.hp2 | HG04115.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101466 | + | 11 | 0.9978 | 0.9977 | 0.9976 | 0.0002 | donor | a0001c0001t0015 | HG01978.hp2 | HG04115.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| 39101537 | + | 11 | -0.9961 | -0.9959 | -0.9957 | 0.0004 | acceptor | a0001c0001t0015 | HG04115.hp1 | HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39106947 | + | 12 | 0.9828 | 0.9768 | 0.9768 | 0.0060 | donor | a0001c0001t0015 | HG01978.hp2 | HG02273.hp1 NA19070.hp2 |
ACP7 | chr19 | 39079368 | 39116493 |
| 39107084 | + | 12 | -0.9976 | -0.9976 | -0.9975 | 0.0001 | acceptor | a0001c0001t0015 | HG02273.hp1 HG04115.hp1 NA19070.hp2 |
HG01978.hp2 | ACP7 | chr19 | 39079368 | 39116493 |
| 39110053 | + | 13 | 0.8459 | 0.8356 | 0.8329 | 0.0130 | donor | a0001c0001t0015 | HG01978.hp2 | HG04115.hp1 | ACP7 | chr19 | 39079368 | 39116493 |
| pos | annotationhgvs_chgvs_p | clinvarid | clnsig | geneinfo | mc | clndisdb | strand strand
|
ahapid ahapid_count
|
chapid chapid count
|
thapid thapid_count
|
ghapid ghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
impact | chr | ref | alt | external |
|---|
| CHR:POS | annotationhgvs_chgvs_p | disease trait-log10podds or beta | AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
study | initial sample size/replication sample size | report genes | mapped gene | strongest snp risk allele | strand strand
|
impact | chr | ref | alt |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr19:39090097
|
c.121+4707A>G | Type 2 diabetes1.39 | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0015a0001c0002t0002a0001c0002t0005a0001c0002t0021others(18): Show | a0001c0001t0001g0040a0001c0001t0001g0049a0001c0001t0001g0083a0001c0001t0001g0097a0001c0001t0001g0098others(100): Show | HG00423.hp1 HG00621.hp1 HG00673.hp1 HG00741.hp2 HG01070.hp1 others(100): Show |
Transferability of type 2 diabetes implicated loci others(45): Show |
2,010 Chinese ancestry cases, 1,945 Chinese ancest others(140): Show |
FLJ16165 | ACP7 | rs472265-G | + | MODIFIER | chr19 | A | G |
|
chr19:39098694
|
c.322+36G>A | Iron/zinc purple acid phosphatase-like protein levelsothers(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0013others(43): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(315): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(315): Show |
Proteogenomic analysis of human cerebrospinal flui others(103): Show |
3,506 European ancestry individuals/ | ACP7 | rs560364-G | + | MODIFIER | chr19 | G | A | |
|
chr19:39087643
|
c.121+2253T>G | Resistance to COVID-19 infection (Exposed negative vs positive)others(23): Show | a0001a0002a0004 | a0001c0001a0001c0002a0001c0003a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0015a0001c0002t0002a0001c0002t0005others(24): Show | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(177): Show | HG00099.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 others(177): Show |
Better safe than sorry-Whole-genome sequencing ind others(76): Show |
306 resistant cases, up to 770 benign, mild or sev others(13): Show |
ACP7 | rs140656818-? | + | MODIFIER | chr19 | T | G |