| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12716215
|
C | A | 0.1690 | stop_gained | HIGH | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(70): Show |
a0002 | a0002c0003a0002c0004a0002c0018others(4): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(11): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(26): Show | 73 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | c.39C>A | p.Cys13* | 106/4055 | 39/1224 | 13/407 | ||
|
chr1:12719616
|
C | T | 0.1620 | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(67): Show |
a0002a0003a0019 | a0002c0003a0002c0022a0003c0005others(2): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(8): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(20): Show | 70 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 2/4 | c.310C>T | p.Pro104Ser | 377/4055 | 310/1224 | 104/407 | ||
|
chr1:12725527
|
T | G | 0.2963 | missense_variant | MODERATE | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(125): Show |
a0002a0003a0004others(6): Show | a0002c0003a0002c0018a0002c0019others(14): Show | a0002c0003t0003a0002c0003t0005a0002c0003t0039others(35): Show | a0002c0003t0003g0004a0002c0003t0003g0005a0002c0003t0003g0136others(58): Show | 128 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | c.755T>G | p.Phe252Cys | 822/4055 | 755/1224 | 252/407 | ||
|
chr1:12725782
|
C | T | 0.0532 | missense_variant | MODERATE | HG00642.hp1 HG01106.hp1 HG01192.hp1 others(20): Show |
a0002a0005 | a0002c0019a0005c0006a0005c0014others(1): Show | a0002c0019t0017a0005c0006t0006a0005c0006t0017others(6): Show | a0002c0019t0017g0007a0005c0006t0006g0007a0005c0006t0006g0055others(9): Show | 23 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 4/4 | c.1010C>T | p.Pro337Leu | 1077/4055 | 1010/1224 | 337/407 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr1:12716341
|
T | A | 0.4074 | synonymous_variant | LOW | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(173): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0012a0002c0003others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0009others(43): Show | a0001c0002t0001g0002a0001c0002t0001g0082a0001c0002t0002g0010others(89): Show | 176 | 432 | 0 | AADACL3 | ENSG00000188984.12 | transcript | ENST00000359318.8 | protein_coding | 1/4 | c.165T>A | p.Thr55Thr | 232/4055 | 165/1224 | 55/407 |
| 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 | 0/0 | a0002 | 12 | 73 | 9 | 11 | 48 | 3 | 2 | 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 | 0/0 | c0004 | 1224 | 27 | 2 | 3 | 21 | 0 | 1 | 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADACL3 | 0/0 | a0002c0004 | 27 | 2 | 3 | 21 | 0 | 1 | 1224 | copy fasta | 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 | -0.2761 | -0.2595 | -0.2595 | 0.0166 | acceptor | a0002c0004 | NA18994.hp2 | HG01891.hp1 HG03654.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp1 others(10): Show |
AADACL3 | chr1 | 12711110 | 12733760 |
| 12719475 | + | 2 | 0.9741 | 0.9696 | 0.9690 | 0.0051 | donor | a0002c0004 | NA18994.hp2 | HG02027.hp1 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12719691 | + | 2 | -0.9726 | -0.9689 | -0.9683 | 0.0043 | acceptor | a0002c0004 | NA18949.hp1 | HG01074.hp2 HG01106.hp2 NA19067.hp2 |
AADACL3 | chr1 | 12711110 | 12733760 |
| 12720883 | + | 3 | 0.8260 | 0.8113 | 0.8071 | 0.0188 | donor | a0002c0004 | NA18964.hp1 | HG00738.hp2 HG01891.hp1 HG02155.hp1 HG03654.hp1 NA18939.hp2 others(4): Show |
AADACL3 | chr1 | 12711110 | 12733760 |
| 12720946 | + | 3 | -0.6832 | -0.6486 | -0.6446 | 0.0385 | acceptor | a0002c0004 | HG02155.hp1 NA18939.hp2 NA18962.hp2 |
NA18994.hp2 | AADACL3 | chr1 | 12711110 | 12733760 |
| 12725222 | + | 4 | 0.9899 | 0.9898 | 0.9895 | 0.0004 | donor | a0002c0004 | NA18946.hp2 NA19088.hp1 |
HG02155.hp1 | 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 |
|---|