| geneid | 343066 |
|---|---|
| ensemblid | ENSG00000204518.3 |
| hgncid | 32038 |
| symbol | AADACL4 |
| name | arylacetamide deacetylase like 4 |
| refseq_nuc | NM_001013630.2 |
| refseq_prot | NP_001013652.1 |
| ensembl_nuc | ENST00000376221.2 |
| ensembl_prot | ENSP00000365395.1 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12644085 |
| end | 12667076 |
| strand | + |
| ver | v1.2 |
| region | chr1:12644085-12667076 |
| region5000 | chr1:12639085-12672076 |
| regionname0 | AADACL4_chr1_12644085_12667076 |
| regionname5000 | AADACL4_chr1_12639085_12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12666306
|
C | T | 0.0226 | synonymous_variant | LOW | HG01109.hp1 HG02630.hp2 HG02723.hp1 others(4): Show |
a0001 | a0001c0003a0001c0006 | a0001c0003t0001a0001c0003t0004a0001c0003t0009others(1): Show | a0001c0003t0001g0057a0001c0003t0001g0143a0001c0003t0001g0176others(4): Show | 7 | 310 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 4/4 | c.795C>T | p.Asp265Asp | 1257/2027 | 795/1224 | 265/407 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | a0001 | 407 | 308 | 80 | 64 | 124 | 10 | 28 | subcellular location copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | c0003 | 1224 | 6 | 5 | 1 | 0 | 0 | 0 | copy fasta | chr1 | 12639085 | 12672076 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 1/1 | t0001 | 804 | 262 | 44 | 60 | 126 | 9 | 21 | copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | a0001c0003 | 6 | 5 | 1 | 0 | 0 | 0 | 1224 | copy fasta | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | a0001c0003t0001 | 4 | 3 | 1 | 0 | 0 | 0 | 2027 | copy fasta | chr1 | 12639085 | 12672076 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12644714 | + | 1 | -0.3239 | -0.3203 | -0.2889 | 0.0350 | acceptor | a0001c0003t0001 | NA19030.hp2 | HG02976.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651123 | + | 2 | 0.9826 | 0.9815 | 0.9813 | 0.0012 | donor | a0001c0003t0001 | HG01109.hp1 | NA19030.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651339 | + | 2 | -0.9908 | -0.9904 | -0.9902 | 0.0005 | acceptor | a0001c0003t0001 | HG02976.hp2 | HG02723.hp1 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661791 | + | 3 | 0.6262 | 0.6259 | 0.6252 | 0.0010 | donor | a0001c0003t0001 | HG02723.hp1 | HG02976.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661854 | + | 3 | -0.8107 | -0.8106 | -0.8105 | 0.0002 | acceptor | a0001c0003t0001 | HG02723.hp1 NA19030.hp2 |
HG01109.hp1 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12665961 | + | 4 | 0.9701 | 0.9701 | 0.9700 | 0.0001 | donor | a0001c0003t0001 | HG01109.hp1 HG02976.hp2 NA19030.hp2 |
HG02723.hp1 | AADACL4 | chr1 | 12639085 | 12672076 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12648932
|
c.169-2191T>C | RS-warfarin levels0.29999 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(5): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(29): Show |
A genome-wide association study of plasma concentr others(85): Show |
524 Sub-Saharan African ancestry individuals/ | AADACL4 | rs17038227-? | + | MODIFIER | chr1 | T | C |