| 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 |
|---|
| 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 | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | genename | geneid | featuretype | featureid | transcript_biotype | rank | hgvs_c | hgvs_p | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12647659
|
CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp1 HG02109.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(3): Show | a0001c0001t0001g0068a0001c0001t0001g0070a0001c0001t0001g0109others(12): Show | 15 | 310 | 0.0484 | -1 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.168+2958delT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12648346
|
A | ATCCT | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp2 others(73): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0005a0001c0001t0001g0009a0001c0001t0001g0010others(64): Show | 76 | 310 | 0.2452 | 4 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-2735_169-2732dupCCTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12649535
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(216): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(185): Show | 219 | 310 | 0.7065 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 1/3 | c.169-1588A>G | ||||||
|
chr1:12658108
|
TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(45): Show | 60 | 310 | 0.1936 | -8 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-3656_386-3649delCCTTCCTT | INFO_REALIGN_3_PRIME | |||||
|
chr1:12658804
|
G | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(258): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(215): Show | 261 | 310 | 0.8419 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-2987G>A | ||||||
|
chr1:12659424
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(274): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(231): Show | 277 | 310 | 0.8936 | 0 | AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | c.386-2367G>A |
| 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 | 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 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | g0109 | 1 | 0 | 1 | 0 | 0 | 0 | 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 |
| 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 | 1/1 | a0001c0001t0001 | 252 | 38 | 58 | 124 | 9 | 21 | 2027 | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL4 | 0/0 | a0001c0001t0001g0109 | 1 | 0 | 1 | 0 | 0 | 0 | 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 | -0.3309 | -0.3309 | -0.3309 | 0.0000 | acceptor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651123 | + | 2 | 0.9814 | 0.9814 | 0.9814 | 0.0000 | donor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12651339 | + | 2 | -0.9906 | -0.9906 | -0.9906 | 0.0000 | acceptor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661791 | + | 3 | 0.5890 | 0.5890 | 0.5890 | 0.0000 | donor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12661854 | + | 3 | -0.8087 | -0.8087 | -0.8087 | 0.0000 | acceptor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | AADACL4 | chr1 | 12639085 | 12672076 |
| 12665961 | + | 4 | 0.9710 | 0.9710 | 0.9710 | 0.0000 | donor | a0001c0001t0001g0109 | HG01167.hp2 | HG01167.hp2 | 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 |
|---|
| 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 |
