| geneid | 145447 |
|---|---|
| ensemblid | ENSG00000131969.15 |
| hgncid | 19837 |
| symbol | ABHD12B |
| name | abhydrolase domain containing 12B |
| refseq_nuc | NM_001206673.2 |
| refseq_prot | NP_001193602.1 |
| ensembl_nuc | ENST00000337334.7 |
| ensembl_prot | ENSP00000336693.2 |
| mane_status | MANE Select |
| chr | chr14 |
| start | 50872053 |
| end | 50904970 |
| strand | + |
| ver | v1.2 |
| region | chr14:50872053-50904970 |
| region5000 | chr14:50867053-50909970 |
| regionname0 | ABHD12B_chr14_50872053_50904970 |
| regionname5000 | ABHD12B_chr14_50867053_50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50878819
|
G | A | 0.0027 | missense_variant | MODERATE | NA20805.hp2 | a0007 | a0007c0014 | a0007c0014t0003 | a0007c0014t0003g0213 | 1 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3/13 | c.307G>A | p.Val103Ile | 429/1815 | 307/1089 | 103/362 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0007 | 362 | 1 | 0 | 0 | 0 | 1 | 0 | subcellular location copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | c0014 | 1089 | 1 | 0 | 0 | 0 | 1 | 0 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/0 | t0003 | 727 | 21 | 14 | 2 | 1 | 1 | 2 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0007c0014 | 1 | 0 | 0 | 0 | 1 | 0 | 1089 | copy fasta | chr14 | 50867053 | 50909970 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0007c0014t0003 | 1 | 0 | 0 | 0 | 1 | 0 | 1815 | copy fasta | chr14 | 50867053 | 50909970 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 50872278 | + | 1 | -0.9344 | -0.9344 | -0.9344 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.3549 | 0.3549 | 0.3549 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1900 | -0.1900 | -0.1900 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.7288 | 0.7288 | 0.7288 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.8380 | -0.8380 | -0.8380 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9440 | 0.9440 | 0.9440 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9673 | -0.9673 | -0.9673 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9104 | 0.9104 | 0.9104 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9423 | -0.9423 | -0.9423 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9275 | 0.9275 | 0.9275 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9151 | -0.9151 | -0.9151 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9888 | 0.9888 | 0.9888 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9268 | -0.9268 | -0.9268 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9227 | 0.9227 | 0.9227 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9612 | -0.9612 | -0.9612 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9965 | -0.9965 | -0.9965 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9958 | -0.9958 | -0.9958 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9647 | 0.9647 | 0.9647 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9682 | -0.9682 | -0.9682 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9349 | 0.9349 | 0.9349 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9046 | -0.9046 | -0.9046 | 0.0000 | acceptor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.5758 | 0.5758 | 0.5758 | 0.0000 | donor | a0007c0014t0003 | NA20805.hp2 | NA20805.hp2 | ABHD12B | chr14 | 50867053 | 50909970 |
| 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 |
|---|
