| geneid | 344752 |
|---|---|
| ensemblid | ENSG00000197953.6 |
| hgncid | 24427 |
| symbol | AADACL2 |
| name | arylacetamide deacetylase like 2 |
| refseq_nuc | NM_207365.4 |
| refseq_prot | NP_997248.2 |
| ensembl_nuc | ENST00000356517.4 |
| ensembl_prot | ENSP00000348911.3 |
| mane_status | MANE Select |
| chr | chr3 |
| start | 151733927 |
| end | 151761339 |
| strand | + |
| ver | v1.2 |
| region | chr3:151733927-151761339 |
| region5000 | chr3:151728927-151766339 |
| regionname0 | AADACL2_chr3_151733927_151761339 |
| regionname5000 | AADACL2_chr3_151728927_151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151761204
|
G | GATATAT | 0.0841 | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00673.hp1 others(33): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0005a0001c0001t0018a0001c0001t0022others(6): Show | a0001c0001t0005g0004a0001c0001t0005g0031a0001c0001t0005g0073others(19): Show | 36 | 428 | 6 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 5/5 | c.*3643_*3648dupATATAT | 3649 | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr3:151749495
|
G | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(390): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(79): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018others(216): Show | 393 | 428 | 0.9182 | 0 | AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 4/4 | c.603+3815G>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | a0002 | 401 | 141 | 17 | 26 | 79 | 6 | 12 | subcellular location copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | c0002 | 1206 | 141 | 17 | 26 | 79 | 6 | 12 | copy fasta | chr3 | 151728927 | 151766339 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | t0005 | 3861 | 23 | 4 | 5 | 12 | 1 | 1 | copy fasta | chr3 | 151728927 | 151766339 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | g0004 | 27 | 10 | 12 | 1 | 2 | 2 | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 1/0 | a0002c0002 | 141 | 17 | 26 | 79 | 6 | 12 | 1206 | copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | a0002c0002t0005 | 19 | 3 | 3 | 11 | 1 | 1 | 5066 | copy fasta | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL2 | 0/0 | a0002c0002t0005g0004 | 5 | 2 | 2 | 0 | 1 | 0 | chr3 | 151728927 | 151766339 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151734173 | + | 1 | -0.8183 | -0.8168 | -0.8135 | 0.0048 | acceptor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 |
HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151740646 | + | 2 | 0.9861 | 0.9861 | 0.9861 | 0.0000 | donor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151740868 | + | 2 | -0.7909 | -0.7909 | -0.7909 | 0.0000 | acceptor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151744093 | + | 3 | 0.4923 | 0.4923 | 0.4923 | 0.0000 | donor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151744162 | + | 3 | -0.6191 | -0.6191 | -0.6191 | 0.0000 | acceptor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151745509 | + | 4 | 0.8893 | 0.8893 | 0.8893 | 0.0000 | donor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151745680 | + | 4 | -0.8997 | -0.8997 | -0.8997 | 0.0000 | acceptor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 151756992 | + | 5 | 0.2706 | 0.2706 | 0.2706 | 0.0000 | donor | a0002c0002t0005g0004 | HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
HG00140.hp1 HG01168.hp2 HG01346.hp2 HG01884.hp1 HG02109.hp1 |
AADACL2 | chr3 | 151728927 | 151766339 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | IGSF10 Cells_Cultured_fibroblasts 4.658 -0.157 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.831 | 201 | 220 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | AADAC Lung 4.312 -0.192 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.819 | 198 | 218 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | AADAC Skin_Not_Sun_Exposed_Suprapubic 14.677 -0.383 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.833 | 197 | 217 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | AADACL2 Skin_Sun_Exposed_Lower_leg 5.566 -0.092 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.832 | 230 | 252 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | AADAC Skin_Sun_Exposed_Lower_leg 12.892 -0.298 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.832 | 230 | 252 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | IGSF10 Testis 13.017 -0.282 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.817 | 134 | 151 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
| 151749495:splice 151749495:variant goto | AADACL2intron_variantc.603+3815G>T | AADAC Thyroid 4.765 0.288 | 8982219 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0005a0002c0002a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0023others(214): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(388): Show |
0.833 | 207 | 228 | 10 | chr3_151749495_G_T_b38 | + | MODIFIER | chr3 | G | T | TogoVar |
