| geneid | 18 |
|---|---|
| ensemblid | ENSG00000183044.12 |
| hgncid | 23 |
| symbol | ABAT |
| name | 4-aminobutyrate aminotransferase |
| refseq_nuc | NM_020686.6 |
| refseq_prot | NP_065737.2 |
| ensembl_nuc | ENST00000268251.13 |
| ensembl_prot | ENSP00000268251.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 8674617 |
| end | 8784570 |
| strand | + |
| ver | v1.2 |
| region | chr16:8674617-8784570 |
| region5000 | chr16:8669617-8789570 |
| regionname0 | ABAT_chr16_8674617_8784570 |
| regionname5000 | ABAT_chr16_8669617_8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8746097
|
A | G | 0.5414 | missense_variant others(1): Show |
MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(193): Show |
a0001a0004a0006 | a0001c0001a0001c0003a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(193): Show | 196 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 3/16 | c.167A>G | p.Gln56Arg | 303/4779 | 167/1503 | 56/500 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8774919
|
C | A | 0.3204 | synonymous_variant | LOW | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(113): Show |
a0001a0002 | a0001c0003a0001c0021a0001c0023others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(25): Show | a0001c0003t0001g0035a0001c0003t0001g0089a0001c0003t0001g0092others(113): Show | 116 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 13/16 | c.984C>A | p.Val328Val | 1120/4779 | 984/1503 | 328/500 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | a0001 | 500 | 194 | 26 | 42 | 86 | 9 | 31 | subcellular location copy fasta | chr16 | 8669617 | 8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | c0003 | 1503 | 60 | 1 | 10 | 35 | 1 | 13 | copy fasta | chr16 | 8669617 | 8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | a0001c0003 | 60 | 1 | 10 | 35 | 1 | 13 | 1503 | copy fasta | chr16 | 8669617 | 8789570 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8674711 | + | 1 | -0.8122 | -0.7946 | -0.7689 | 0.0433 | acceptor | a0001c0003 | NA19076.hp1 | NA19057.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8735699 | + | 2 | 0.9898 | 0.9885 | 0.9859 | 0.0039 | donor | a0001c0003 | HG00609.hp1 | NA19091.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8735809 | + | 2 | -0.9957 | -0.9951 | -0.9949 | 0.0008 | acceptor | a0001c0003 | HG02738.hp2 | NA18948.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8746001 | + | 3 | 0.9969 | 0.9967 | 0.9963 | 0.0006 | donor | a0001c0003 | NA18948.hp2 | HG02602.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746098 | + | 3 | -0.9980 | -0.9978 | -0.9975 | 0.0005 | acceptor | a0001c0003 | HG01943.hp2 | HG00621.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8748108 | + | 4 | 0.9930 | 0.9915 | 0.9908 | 0.0023 | donor | a0001c0003 | NA18979.hp2 | HG00438.hp2 HG01258.hp1 HG01943.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8748137 | + | 4 | -0.9943 | -0.9927 | -0.9926 | 0.0017 | acceptor | a0001c0003 | NA18979.hp2 | HG01515.hp1 HG03239.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8750422 | + | 5 | 0.9947 | 0.9937 | 0.9927 | 0.0020 | donor | a0001c0003 | HG01258.hp1 | HG03927.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8750539 | + | 5 | -0.9976 | -0.9968 | -0.9960 | 0.0017 | acceptor | a0001c0003 | HG01175.hp2 | HG00438.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8757757 | + | 6 | 0.9045 | 0.8918 | 0.8727 | 0.0318 | donor | a0001c0003 | NA18747.hp2 | HG00621.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8757806 | + | 6 | -0.9120 | -0.8908 | -0.8798 | 0.0322 | acceptor | a0001c0003 | HG00621.hp2 | HG02738.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8764069 | + | 7 | 0.9977 | 0.9972 | 0.9971 | 0.0006 | donor | a0001c0003 | HG00621.hp2 NA18995.hp2 |
HG03688.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8764149 | + | 7 | -0.9988 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0001c0003 | HG00621.hp2 | HG03688.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8764738 | + | 8 | 0.9965 | 0.9902 | 0.9902 | 0.0063 | donor | a0001c0003 | NA18995.hp2 | HG01175.hp1 HG01515.hp1 HG03239.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8764830 | + | 8 | -0.9767 | -0.9687 | -0.9591 | 0.0176 | acceptor | a0001c0003 | NA18995.hp2 | HG03688.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8766208 | + | 9 | 0.9943 | 0.9937 | 0.9933 | 0.0010 | donor | a0001c0003 | HG03688.hp2 | HG02155.hp1 HG02735.hp2 NA18944.hp2 NA19011.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8766270 | + | 9 | -0.9979 | -0.9977 | -0.9977 | 0.0002 | acceptor | a0001c0003 | HG00621.hp2 | HG01175.hp1 HG01515.hp1 HG03239.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8768193 | + | 10 | 0.9953 | 0.9922 | 0.9921 | 0.0032 | donor | a0001c0003 | HG00621.hp2 | HG00609.hp1 HG01943.hp2 HG02602.hp1 NA18955.hp2 NA19058.hp1 others(4): Show |
ABAT | chr16 | 8669617 | 8789570 |
| 8768256 | + | 10 | -0.9846 | -0.9808 | -0.9803 | 0.0044 | acceptor | a0001c0003 | HG00621.hp2 | HG03688.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768825 | + | 11 | 0.9967 | 0.9964 | 0.9962 | 0.0004 | donor | a0001c0003 | NA18995.hp2 | HG03927.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768973 | + | 11 | -0.9991 | -0.9990 | -0.9989 | 0.0002 | acceptor | a0001c0003 | HG03017.hp2 NA19056.hp1 NA19076.hp1 |
NA19006.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772780 | + | 12 | 0.9951 | 0.9945 | 0.9934 | 0.0017 | donor | a0001c0003 | HG02738.hp2 | NA18944.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772917 | + | 12 | -0.9985 | -0.9980 | -0.9978 | 0.0007 | acceptor | a0001c0003 | NA19011.hp2 | HG02155.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8774890 | + | 13 | 0.9960 | 0.9959 | 0.9956 | 0.0004 | donor | a0001c0003 | HG00438.hp2 | HG02965.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8775057 | + | 13 | -0.9974 | -0.9974 | -0.9973 | 0.0001 | acceptor | a0001c0003 | HG01074.hp2 HG01978.hp2 |
HG03834.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8776344 | + | 14 | 0.9970 | 0.9969 | 0.9965 | 0.0005 | donor | a0001c0003 | HG03239.hp2 | HG02683.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8776490 | + | 14 | -0.9992 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0003 | HG02027.hp1 HG02683.hp1 HG02965.hp1 HG03017.hp2 NA18747.hp2 others(7): Show |
HG00544.hp2 HG00621.hp2 HG00735.hp1 HG02004.hp1 HG02602.hp1 others(3): Show |
ABAT | chr16 | 8669617 | 8789570 |
| 8779479 | + | 15 | 0.9870 | 0.9818 | 0.9792 | 0.0079 | donor | a0001c0003 | HG02683.hp1 NA18944.hp1 NA19091.hp2 |
NA18747.hp2 NA18944.hp2 NA18948.hp2 NA19058.hp1 NA19063.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8779590 | + | 15 | -0.9866 | -0.9855 | -0.9833 | 0.0033 | acceptor | a0001c0003 | HG02602.hp1 | HG01175.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8781309 | + | 16 | 0.5508 | 0.5118 | 0.4921 | 0.0587 | donor | a0001c0003 | HG01258.hp1 | HG02602.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8777224
|
c.1269+734T>A | Anger0.26 | a0001a0002a0003a0005a0006 | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(80): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076others(311): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(311): Show |
Genome-wide association study of proneness to ange others(2): Show |
8,747 European ancestry individuals/ | ABAT | ABAT | rs1299926-T | + | MODIFIER | chr16 | T | A |
|
chr16:8781672
|
c.*242G>T | Alzheimer's disease or gastroesophageal reflux diseaseothers(14): Show | a0001a0002a0003a0004 | a0001c0001a0001c0003a0001c0011a0001c0021a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0012a0001c0001t0037a0001c0001t0039others(27): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(131): Show | HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 others(131): Show |
A large-scale genome-wide cross-trait analysis rev others(98): Show |
71,880 European ancestry Alzheimer's disease or AD others(95): Show |
ABAT, TMEM186 | rs2270288-T | + | MODIFIER | chr16 | G | T | |
|
chr16:8777531
|
c.1269+1041T>C | Response to opioid analgesics in cancer (pain decrease)others(19): Show | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(76): Show | a0001c0001t0001g0011a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0076a0001c0001t0001g0081others(253): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(253): Show |
Gamma-aminobutyric acid transaminase genetic polym others(120): Show |
71 Japanese ancestry individuals/ | ABAT | ABAT | rs1641025-T | + | MODIFIER | chr16 | T | C |
|
chr16:8740228
|
c.70+4419G>A |
Bronchopulmonary dysplasia in preterm infants others(13): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004a0002c0006a0002c0016others(2): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002a0002c0002t0003a0002c0002t0004others(18): Show | a0001c0003t0003g0083a0001c0003t0003g0357a0002c0002t0001g0021a0002c0002t0001g0140a0002c0002t0001g0170others(48): Show | HG00140.hp1 HG00609.hp2 HG00621.hp2 HG00673.hp2 HG00735.hp2 others(48): Show |
Ancestry and Genetic Associations with Bronchopulm others(35): Show |
136 European ancestry cases, 82 African American c others(107): Show |
ABAT | ABAT | rs75055007-? | + | MODIFIER | chr16 | G | A |
|
chr16:8747452
|
c.169-656G>A | Phosphomannomutase 2 levels0.646 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0003a0001c0011a0001c0013a0001c0021others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(89): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038a0001c0001t0001g0058a0001c0001t0001g0059others(340): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(340): Show |
Mapping the proteo-genomic convergence of human di others(7): Show |
10,708 European ancestry individuals/ | ABAT | rs1731033-A | + | MODIFIER | chr16 | G | A | |
|
chr16:8783734
|
c.*2304T>A | Height0.0048 | a0001a0002 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(5): Show | a0001c0001t0003a0001c0001t0022a0001c0001t0023a0001c0001t0025a0001c0003t0003others(8): Show | a0001c0001t0003g0029a0001c0001t0003g0039a0001c0001t0003g0042a0001c0001t0003g0047a0001c0001t0003g0071others(74): Show | HG00408.hp2 HG00438.hp2 HG00544.hp2 HG00621.hp2 HG00673.hp1 others(74): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
ABAT, TMEM186 | rs9456-A | + | MODIFIER | chr16 | T | A | |
|
chr16:8670571
|
c.-4182T>C |
Gut microbiome abundance (class Megasphaera micronuciformis (at 1 year) x Household furry pet dog (1 others(82): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0023a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0005a0001c0001t0011others(28): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058a0001c0001t0001g0239a0001c0001t0001g0246others(77): Show | HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00639.hp2 HG00733.hp1 others(77): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
up to 688 European ancestry, South Asian ancestry, others(238): Show |
METTL22 - ABAT | rs1345300-C | + | MODIFIER | chr16 | T | C | |
|
chr16:8752877
|
c.316+2338T>C | Developmental dysplasia of the hip0.1884 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0135a0001c0003t0003g0165 | NA18948.hp1 NA19006.hp2 |
Genome-Wide Association Study and Transcriptome of others(126): Show |
238 Japanese ancestry cases, 2,044 Japanese ancest others(76): Show |
ABAT | rs77485026-? | + | MODIFIER | chr16 | T | C |