| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50872157
|
A | C | 0.9282 | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(346): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(326): Show | 349 | 376 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/13 | c.-18A>C | 18 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr14:50873370
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(341): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(321): Show | 344 | 376 | 0.9149 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+1092T>C | ||||||
|
chr14:50874460
|
C | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(104): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0016a0001c0005t0007others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(96): Show | 107 | 376 | 0.2846 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2182C>A | ||||||
|
chr14:50874609
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(335): Show | 358 | 376 | 0.9521 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.104+2331T>A | ||||||
|
chr14:50875135
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(371): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(350): Show | 374 | 376 | 0.9947 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2817C>G | ||||||
|
chr14:50875758
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(198): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(23): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(186): Show | 201 | 376 | 0.5346 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | c.105-2194T>G | ||||||
|
chr14:50884702
|
CTTTTTTT others(7): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 376 | 0.0027 | -14 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | c.487-893_487-880delTTTTTTTTTTTTTT | INFO_REALIGN_3_PRIME | |||||
|
chr14:50893604
|
C | T | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | 376 | 0.0080 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.780+4701C>T | ||||||
|
chr14:50897112
|
A | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00423.hp1 others(105): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0018a0001c0001t0001g0025a0001c0001t0001g0031others(100): Show | 108 | 376 | 0.2872 | 0 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | c.781-4717A>G | ||||||
|
chr14:50901967
|
CA | C | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0047a0001c0001t0001g0048 | 3 | 376 | 0.0080 | -1 | ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | c.863+58delA | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 1/1 | a0001 | 362 | 187 | 40 | 37 | 77 | 9 | 22 | 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 | 1/1 | c0001 | 1089 | 146 | 26 | 29 | 61 | 9 | 19 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/1 | t0001 | 727 | 195 | 45 | 41 | 72 | 10 | 26 | copy fasta | chr14 | 50867053 | 50909970 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | g0047 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | 1/1 | a0001c0001 | 146 | 26 | 29 | 61 | 9 | 19 | 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 | 0/1 | a0001c0001t0001 | 134 | 22 | 27 | 58 | 9 | 17 | 1815 | 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 |
actghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| ABHD12B | 0/0 | a0001c0001t0001g0047 | 1 | 1 | 0 | 0 | 0 | 0 | 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 | -0.9300 | -0.9300 | -0.9300 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50877952 | + | 2 | 0.2773 | 0.2773 | 0.2773 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878079 | + | 2 | -0.1437 | -0.1437 | -0.1437 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878745 | + | 3 | 0.5919 | 0.5918 | 0.5919 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50878847 | + | 3 | -0.8114 | -0.8114 | -0.8114 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880452 | + | 4 | 0.9388 | 0.9388 | 0.9388 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50880571 | + | 4 | -0.9609 | -0.9609 | -0.9609 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881596 | + | 5 | 0.9169 | 0.9169 | 0.9169 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50881626 | + | 5 | -0.9460 | -0.9460 | -0.9460 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885614 | + | 6 | 0.9364 | 0.9364 | 0.9364 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885659 | + | 6 | -0.9105 | -0.9104 | -0.9105 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885766 | + | 7 | 0.9881 | 0.9881 | 0.9881 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50885895 | + | 7 | -0.9168 | -0.9167 | -0.9168 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886647 | + | 8 | 0.9224 | 0.9224 | 0.9224 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50886684 | + | 8 | -0.9641 | -0.9641 | -0.9641 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888824 | + | 9 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50888903 | + | 9 | -0.9963 | -0.9962 | -0.9963 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901829 | + | 10 | 0.9983 | 0.9983 | 0.9983 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50901911 | + | 10 | -0.9954 | -0.9954 | -0.9954 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903389 | + | 11 | 0.9633 | 0.9633 | 0.9633 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50903467 | + | 11 | -0.9726 | -0.9726 | -0.9726 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904074 | + | 12 | 0.9413 | 0.9413 | 0.9413 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904192 | + | 12 | -0.9059 | -0.9059 | -0.9059 | 0.0000 | acceptor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | ABHD12B | chr14 | 50867053 | 50909970 |
| 50904339 | + | 13 | 0.5690 | 0.5690 | 0.5690 | 0.0000 | donor | a0001c0001t0001g0047 | NA18522.hp1 | NA18522.hp1 | 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 |
|---|