| 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 |
|---|
| 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 | 1/1 | c0001 | 1224 | 290 | 64 | 62 | 124 | 10 | 28 | 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 | 1/1 | a0001c0001 | 290 | 64 | 62 | 124 | 10 | 28 | 1224 | 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 | -0.3362 | -0.3200 | -0.2209 | 0.1152 | acceptor | a0001c0001 | HG02886.hp2 | HG03942.hp1 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651123 | + | 2 | 0.9891 | 0.9802 | 0.9743 | 0.0148 | donor | a0001c0001 | HG06807.hp1 | NA18946.hp2 NA18985.hp1 |
AADACL4 | chr1 | 12639085 | 12672076 |
| 12651339 | + | 2 | -0.9932 | -0.9904 | -0.9850 | 0.0083 | acceptor | a0001c0001 | HG06807.hp1 | HG01884.hp1 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661791 | + | 3 | 0.6504 | 0.5900 | 0.5643 | 0.0861 | donor | a0001c0001 | HG03098.hp1 | HG00733.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661854 | + | 3 | -0.8662 | -0.8087 | -0.8049 | 0.0614 | acceptor | a0001c0001 | NA19068.hp1 | HG01106.hp1 HG03139.hp2 |
AADACL4 | chr1 | 12639085 | 12672076 |
| 12665961 | + | 4 | 0.9728 | 0.9710 | 0.9656 | 0.0071 | donor | a0001c0001 | HG03710.hp2 | HG02074.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 |
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12649535:splice 12649535:variant goto | AADACL4intron_variantc.169-1588A>G | DHRS3 Skin_Not_Sun_Exposed_Suprapubic 3.989 -0.117 | 3719188 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0003a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(183): Show | HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(214): Show |
0.779 | 252 | 287 | 10 | chr1_12649535_A_G_b38 | + | MODIFIER | chr1 | A | G | TogoVar |
| 12664920:splice 12664920:variant goto | AADACL4intron_variantc.450-1041G>A | AADACL4 Adipose_Visceral_Omentum 4.453 -0.243 | 141168 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0011a0001c0002t0001others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(63): Show | HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 others(68): Show |
0.119 | 122 | 139 | 10 | chr1_12664920_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12665932:splice 12665932:variant goto | AADACL4intron_variantc.450-29T>C | AADACL4 Adipose_Visceral_Omentum 4.317 -0.238 | 141168 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0011a0001c0002t0001others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0019a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0037others(63): Show | HG00323.hp2 HG00438.hp2 HG00642.hp1 HG00741.hp2 HG01109.hp1 others(68): Show |
0.118 | 121 | 138 | 10 | chr1_12665932_T_C_b38 | + | MODIFIER | chr1 | T | C | TogoVar |
| 12652370:splice 12652370:variant goto | AADACL4intron_variantc.385+1031T>A | CLCN6 Heart_Atrial_Appendage 4.411 -0.437 | 14934 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01109.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 others(29): Show |
0.029 | 25 | 27 | 10 | chr1_12652370_T_A_b38 | + | MODIFIER | chr1 | T | A | TogoVar |
| 12652370:splice 12652370:variant goto | AADACL4intron_variantc.385+1031T>A | AGTRAP Nerve_Tibial 3.938 -0.233 | 14934 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011a0001c0002t0001a0001c0002t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(29): Show | HG01109.hp1 HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 others(29): Show |
0.038 | 46 | 51 | 10 | chr1_12652370_T_A_b38 | + | MODIFIER | chr1 | T | A | TogoVar |
| 12656685:splice 12656685:variant goto | AADACL4intron_variantc.386-5106C>T | MIIP Artery_Tibial 3.917 -0.345 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.018 | 25 | 25 | 10 | chr1_12656685_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12657396:splice 12657396:variant goto | AADACL4intron_variantc.386-4395G>A | MIIP Artery_Tibial 3.917 -0.345 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.018 | 25 | 25 | 10 | chr1_12657396_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12654860:splice 12654860:variant goto | AADACL4intron_variantc.385+3525dupG | MTHFR Adipose_Visceral_Omentum 4.223 -0.507 | 13522 | a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0002t0004a0001c0003t0009 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0047others(17): Show | HG01175.hp2 HG01884.hp1 HG01884.hp2 HG02055.hp1 HG02109.hp1 others(17): Show |
0.013 | 15 | 15 | 10 | chr1_12654860_A_AG_b38 | + | MODIFIER | chr1 | A | AG | TogoVar |
| 12658891:splice 12658891:variant goto | AADACL4intron_variantc.386-2895dupC | CLCN6 Colon_Transverse 4.433 0.358 | 14611 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0140a0001c0001t0001g0191a0001c0001t0002g0041a0001c0001t0002g0058a0001c0002t0001g0226others(6): Show | HG00642.hp1 HG01109.hp1 HG02055.hp2 HG02630.hp2 HG02723.hp1 others(6): Show |
0.027 | 22 | 26 | 10 | chr1_12658891_T_TC_b38 | + | MODIFIER | chr1 | T | TC | TogoVar |
| 12654738:splice 12654738:variant goto | AADACL4intron_variantc.385+3399G>T | CLCN6 Testis 4.051 -0.473 | 1126 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0061others(1): Show | HG00323.hp2 HG02451.hp2 HG02717.hp2 HG03017.hp2 HG03209.hp2 others(1): Show |
0.028 | 22 | 23 | 10 | chr1_12654738_G_T_b38 | + | MODIFIER | chr1 | G | T | TogoVar |
| 12655436:splice 12655436:variant goto | AADACL4intron_variantc.385+4097C>T | CLCN6 Testis 3.958 -0.457 | 1126 | a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0233a0001c0001t0001g0234a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0061others(1): Show | HG00323.hp2 HG02451.hp2 HG02717.hp2 HG03017.hp2 HG03209.hp2 others(1): Show |
0.029 | 23 | 24 | 10 | chr1_12655436_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12639807:splice 12639807:variant goto | AADACL4upstream_gene_variantc.-4740C>G others(3): Show |
NPPA Whole_Blood 4.475 -0.687 | 11210 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(5): Show | HG01106.hp1 HG01261.hp1 HG02280.hp2 HG02698.hp2 HG02723.hp2 others(8): Show |
0.019 | 30 | 31 | 10 | chr1_12639807_C_G_b38 | + | MODIFIER | chr1 | C | G | TogoVar |
| 12639926:splice 12639926:variant goto | AADACL4upstream_gene_variantc.-4621C>A others(3): Show |
NPPA Whole_Blood 4.475 -0.687 | 11210 | a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0003a0001c0001t0003g0007a0001c0001t0003g0031a0001c0001t0003g0032a0001c0001t0003g0033others(5): Show | HG01106.hp1 HG01261.hp1 HG02280.hp2 HG02698.hp2 HG02723.hp2 others(8): Show |
0.019 | 30 | 31 | 10 | chr1_12639926_C_A_b38 | + | MODIFIER | chr1 | C | A | TogoVar |
| 12644463:splice 12644463:variant goto | AADACL45_prime_UTR_variantc.-84G>A | AADACL4 Skin_Not_Sun_Exposed_Suprapubic 4.201 -0.438 | 14510 | a0001 | a0001c0001a0001c0002a0001c0003a0001c0006 | a0001c0001t0004a0001c0001t0011a0001c0002t0004a0001c0003t0004a0001c0006t0004 | a0001c0001t0004g0048a0001c0001t0011g0030a0001c0002t0004g0051a0001c0002t0004g0052a0001c0002t0004g0053others(5): Show | HG02109.hp1 HG02572.hp2 HG02630.hp2 HG02818.hp1 HG02895.hp1 others(5): Show |
0.028 | 36 | 36 | 10 | chr1_12644463_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12641439:splice 12641439:variant goto | AADACL4upstream_gene_variantc.-3108A>G others(3): Show |
AADACL4 Skin_Not_Sun_Exposed_Suprapubic 5.183 -0.662 | 1111 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | HG03492.hp1 | 0.014 | 18 | 18 | 10 | chr1_12641439_A_G_b38 | + | MODIFIER | chr1 | A | G | TogoVar |
| 12641882:splice 12641882:variant goto | AADACL4upstream_gene_variantc.-2665C>T others(3): Show |
AADACL4 Skin_Not_Sun_Exposed_Suprapubic 5.183 -0.662 | 1111 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | HG03492.hp1 | 0.014 | 18 | 18 | 10 | chr1_12641882_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12642746:splice 12642746:variant goto | AADACL4upstream_gene_variantc.-1801G>A others(3): Show |
AADACL4 Skin_Not_Sun_Exposed_Suprapubic 5.183 -0.662 | 1111 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | HG03492.hp1 | 0.014 | 18 | 18 | 10 | chr1_12642746_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12644470:splice 12644470:variant goto | AADACL45_prime_UTR_variantc.-77G>A | AADACL4 Skin_Not_Sun_Exposed_Suprapubic 5.183 -0.662 | 1111 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | HG03492.hp1 | 0.014 | 18 | 18 | 10 | chr1_12644470_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12644889:splice 12644889:variant goto | AADACL4intron_variantc.168+175G>A | AADACL4 Skin_Not_Sun_Exposed_Suprapubic 5.183 -0.662 | 1111 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0030 | HG03492.hp1 | 0.014 | 18 | 18 | 10 | chr1_12644889_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |