| geneid | 126767 |
|---|---|
| ensemblid | ENSG00000188984.12 |
| hgncid | 32037 |
| symbol | AADACL3 |
| name | arylacetamide deacetylase like 3 |
| refseq_nuc | NM_001103170.3 |
| refseq_prot | NP_001096640.2 |
| ensembl_nuc | ENST00000359318.8 |
| ensembl_prot | ENSP00000352268.6 |
| mane_status | MANE Select |
| chr | chr1 |
| start | 12716110 |
| end | 12728760 |
| strand | + |
| ver | v1.2 |
| region | chr1:12716110-12728760 |
| region5000 | chr1:12711110-12733760 |
| regionname0 | AADACL3_chr1_12716110_12728760 |
| regionname5000 | AADACL3_chr1_12711110_12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12727920
|
G | T | 0.9977 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(428): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0012others(34): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(77): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(184): Show | 431 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | c.*1924G>T | 1924 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12718359
|
CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(100): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0002c0003others(16): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(31): Show | a0001c0001t0001g0131a0001c0001t0010g0132a0001c0001t0013g0133others(46): Show | 103 | 432 | 0.2384 | -1 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/3 | c.169-1093delA | INFO_REALIGN_3_PRIME | |||||
|
chr1:12720341
|
G | A | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02615.hp2 others(12): Show |
a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103others(9): Show | 15 | 432 | 0.0347 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 2/3 | c.386-542G>A | ||||||
|
chr1:12722682
|
CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02559.hp2 HG03195.hp2 others(3): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0007a0005c0006others(1): Show | a0001c0001t0001a0004c0007t0004a0005c0006t0038others(1): Show | a0001c0001t0001g0110a0001c0001t0001g0118a0001c0001t0001g0131others(3): Show | 6 | 432 | 0.0139 | -1 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 3/3 | c.449+1750delT | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 1/0 | a0001 | 407 | 241 | 42 | 49 | 107 | 11 | 31 | subcellular location copy fasta | chr1 | 12711110 | 12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 1/0 | c0001 | 1224 | 185 | 25 | 48 | 83 | 9 | 19 | copy fasta | chr1 | 12711110 | 12733760 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 0/0 | t0001 | 2832 | 174 | 21 | 48 | 80 | 9 | 16 | copy fasta | chr1 | 12711110 | 12733760 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 0/0 | g0131 | 1 | 0 | 1 | 0 | 0 | 0 | chr1 | 12711110 | 12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 1/0 | a0001c0001 | 185 | 25 | 48 | 83 | 9 | 19 | 1224 | copy fasta | chr1 | 12711110 | 12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 0/0 | a0001c0001t0001 | 165 | 19 | 47 | 77 | 9 | 13 | 4055 | copy fasta | chr1 | 12711110 | 12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 0/0 | a0001c0001t0001g0131 | 1 | 0 | 1 | 0 | 0 | 0 | chr1 | 12711110 | 12733760 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12716344 | + | 1 | -0.2656 | -0.2656 | -0.2656 | 0.0000 | acceptor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12719475 | + | 2 | 0.9699 | 0.9699 | 0.9699 | 0.0000 | donor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12719691 | + | 2 | -0.9675 | -0.9675 | -0.9675 | 0.0000 | acceptor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12720883 | + | 3 | 0.8104 | 0.8104 | 0.8104 | 0.0000 | donor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12720946 | + | 3 | -0.6535 | -0.6534 | -0.6535 | 0.0000 | acceptor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12725222 | + | 4 | 0.9896 | 0.9896 | 0.9896 | 0.0000 | donor | a0001c0001t0001g0131 | HG01167.hp2 | HG01167.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 12720341:splice 12720341:variant goto | AADACL3intron_variantc.386-542G>A | MTHFR Brain_Cerebellar_Hemisphere 5.376 1.324 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.009 | 5 | 5 | 10 | chr1_12720341_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12720341:splice 12720341:variant goto | AADACL3intron_variantc.386-542G>A | MIIP Esophagus_Muscularis 4.236 -0.330 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.020 | 20 | 22 | 10 | chr1_12720341_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12728791:splice 12728791:variant goto | AADACL3downstream_gene_variantc.*2795G>T others(5): Show |
MIIP Esophagus_Muscularis 4.236 -0.330 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.020 | 20 | 22 | 10 | chr1_12728791_G_T_b38 | + | MODIFIER | chr1 | G | T | TogoVar |
| 12728960:splice 12728960:variant goto | AADACL3downstream_gene_variantc.*2964C>T others(5): Show |
MIIP Esophagus_Muscularis 4.236 -0.330 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.020 | 20 | 22 | 10 | chr1_12728960_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12731920:splice 12731920:variant goto | AADACL3downstream_gene_variantc.*5924G>C others(5): Show |
MIIP Esophagus_Muscularis 4.362 -0.343 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.019 | 19 | 21 | 10 | chr1_12731920_G_C_b38 | + | MODIFIER | chr1 | G | C | TogoVar |
| 12720341:splice 12720341:variant goto | AADACL3intron_variantc.386-542G>A | MIIP Nerve_Tibial 5.232 -0.316 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.018 | 23 | 24 | 10 | chr1_12720341_G_A_b38 | + | MODIFIER | chr1 | G | A | TogoVar |
| 12728791:splice 12728791:variant goto | AADACL3downstream_gene_variantc.*2795G>T others(5): Show |
MIIP Nerve_Tibial 4.361 -0.282 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.019 | 24 | 25 | 10 | chr1_12728791_G_T_b38 | + | MODIFIER | chr1 | G | T | TogoVar |
| 12728960:splice 12728960:variant goto | AADACL3downstream_gene_variantc.*2964C>T others(5): Show |
MIIP Nerve_Tibial 4.361 -0.282 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.019 | 24 | 25 | 10 | chr1_12728960_C_T_b38 | + | MODIFIER | chr1 | C | T | TogoVar |
| 12731920:splice 12731920:variant goto | AADACL3downstream_gene_variantc.*5924G>C others(5): Show |
MIIP Nerve_Tibial 4.167 -0.281 | 23312 | a0001a0015 | a0001c0001a0001c0002a0015c0028 | a0001c0001t0001a0001c0002t0002a0015c0028t0002 | a0001c0001t0001g0026a0001c0001t0001g0099a0001c0001t0001g0103a0001c0001t0001g0131a0001c0002t0002g0037others(7): Show | HG01167.hp2 HG01891.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 others(10): Show |
0.018 | 23 | 24 | 10 | chr1_12731920_G_C_b38 | + | MODIFIER | chr1 | G | C | TogoVar |