| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:8781688
|
G | C | 0.2983 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(105): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(28): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(105): Show | 108 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*258G>C | 258 | |||||
|
chr16:8781906
|
T | C | 0.3674 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(130): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(43): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(130): Show | 133 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*476T>C | 476 | |||||
|
chr16:8782001
|
A | C | 0.3646 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(129): Show | 132 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*571A>C | 571 | |||||
|
chr16:8782004
|
A | G | 0.3646 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(129): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(42): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(129): Show | 132 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*574A>G | 574 | |||||
|
chr16:8782835
|
C | T | 0.2652 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(93): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0021others(23): Show | a0001c0001t0002g0030a0001c0001t0002g0034a0001c0001t0002g0049others(93): Show | 96 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1405C>T | 1405 | |||||
|
chr16:8783363
|
T | C | 0.9337 | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(335): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(82): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(335): Show | 338 | 362 | 0 | ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 16/16 | c.*1933T>C | 1933 |
| 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 | c0001 | 1503 | 127 | 25 | 28 | 48 | 8 | 18 | copy fasta | chr16 | 8669617 | 8789570 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | t0002 | 3277 | 78 | 16 | 13 | 29 | 8 | 12 | 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 | a0001c0001 | 127 | 25 | 28 | 48 | 8 | 18 | 1503 | 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 |
acthapid | total | AFR | AMR | EAS | EUR | SAS | tlen | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABAT | 0/0 | a0001c0001t0002 | 34 | 3 | 8 | 12 | 5 | 6 | 4779 | 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 | -0.7947 | -0.7907 | 0.0215 | acceptor | a0001c0001t0002 | HG03490.hp2 | NA19081.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8735699 | + | 2 | 0.9900 | 0.9883 | 0.9848 | 0.0052 | donor | a0001c0001t0002 | HG03225.hp2 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8735809 | + | 2 | -0.9961 | -0.9952 | -0.9947 | 0.0014 | acceptor | a0001c0001t0002 | HG02572.hp1 | HG01257.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746001 | + | 3 | 0.9968 | 0.9967 | 0.9962 | 0.0006 | donor | a0001c0001t0002 | HG01978.hp1 NA18942.hp1 |
NA20805.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8746098 | + | 3 | -0.9980 | -0.9978 | -0.9974 | 0.0006 | acceptor | a0001c0001t0002 | NA18942.hp1 | NA20805.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8748108 | + | 4 | 0.9927 | 0.9915 | 0.9902 | 0.0025 | donor | a0001c0001t0002 | NA18942.hp1 | HG02572.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8748137 | + | 4 | -0.9936 | -0.9928 | -0.9866 | 0.0070 | acceptor | a0001c0001t0002 | HG00280.hp1 HG00280.hp2 HG03490.hp2 NA19000.hp2 |
HG02572.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8750422 | + | 5 | 0.9947 | 0.9940 | 0.9936 | 0.0010 | donor | a0001c0001t0002 | HG01978.hp1 | HG02735.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8750539 | + | 5 | -0.9977 | -0.9970 | -0.9960 | 0.0017 | acceptor | a0001c0001t0002 | HG01257.hp1 | HG01978.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8757757 | + | 6 | 0.9058 | 0.8919 | 0.8682 | 0.0377 | donor | a0001c0001t0002 | HG00280.hp1 | HG01167.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8757806 | + | 6 | -0.9141 | -0.8908 | -0.8863 | 0.0277 | acceptor | a0001c0001t0002 | HG01167.hp1 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8764069 | + | 7 | 0.9977 | 0.9972 | 0.9972 | 0.0006 | donor | a0001c0001t0002 | HG00280.hp1 | HG01167.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764149 | + | 7 | -0.9987 | -0.9986 | -0.9986 | 0.0002 | acceptor | a0001c0001t0002 | HG00280.hp1 | HG00621.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764738 | + | 8 | 0.9965 | 0.9902 | 0.9899 | 0.0066 | donor | a0001c0001t0002 | HG00280.hp1 | NA20805.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8764830 | + | 8 | -0.9766 | -0.9687 | -0.9681 | 0.0085 | acceptor | a0001c0001t0002 | HG00280.hp1 | HG02572.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8766208 | + | 9 | 0.9938 | 0.9937 | 0.9916 | 0.0022 | donor | a0001c0001t0002 | HG03490.hp2 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8766270 | + | 9 | -0.9983 | -0.9977 | -0.9977 | 0.0006 | acceptor | a0001c0001t0002 | NA20805.hp1 | HG01167.hp1 HG03225.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8768193 | + | 10 | 0.9951 | 0.9922 | 0.9921 | 0.0030 | donor | a0001c0001t0002 | HG00280.hp1 | NA19083.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8768256 | + | 10 | -0.9848 | -0.9806 | -0.9796 | 0.0051 | acceptor | a0001c0001t0002 | HG00280.hp1 | NA20805.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768825 | + | 11 | 0.9967 | 0.9963 | 0.9961 | 0.0006 | donor | a0001c0001t0002 | HG03942.hp2 | HG03017.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8768973 | + | 11 | -0.9991 | -0.9990 | -0.9989 | 0.0002 | acceptor | a0001c0001t0002 | HG02818.hp2 | NA19000.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772780 | + | 12 | 0.9956 | 0.9949 | 0.9914 | 0.0042 | donor | a0001c0001t0002 | HG03225.hp2 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8772917 | + | 12 | -0.9985 | -0.9984 | -0.9978 | 0.0008 | acceptor | a0001c0001t0002 | HG01099.hp1 | HG03225.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8774890 | + | 13 | 0.9948 | 0.9943 | 0.9943 | 0.0004 | donor | a0001c0001t0002 | HG00280.hp1 | HG03017.hp1 NA20805.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8775057 | + | 13 | -0.9979 | -0.9979 | -0.9976 | 0.0003 | acceptor | a0001c0001t0002 | NA18945.hp1 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8776344 | + | 14 | 0.9967 | 0.9966 | 0.9964 | 0.0003 | donor | a0001c0001t0002 | NA18612.hp2 | HG02818.hp2 | ABAT | chr16 | 8669617 | 8789570 |
| 8776490 | + | 14 | -0.9992 | -0.9992 | -0.9992 | 0.0000 | acceptor | a0001c0001t0002 | HG03225.hp2 | HG00733.hp1 NA19000.hp2 |
ABAT | chr16 | 8669617 | 8789570 |
| 8779479 | + | 15 | 0.9882 | 0.9870 | 0.9801 | 0.0081 | donor | a0001c0001t0002 | HG03017.hp1 | HG00280.hp1 HG00639.hp2 HG01167.hp1 HG01257.hp1 HG02572.hp1 |
ABAT | chr16 | 8669617 | 8789570 |
| 8779590 | + | 15 | -0.9879 | -0.9849 | -0.9833 | 0.0047 | acceptor | a0001c0001t0002 | HG00280.hp2 | NA18986.hp1 | ABAT | chr16 | 8669617 | 8789570 |
| 8781309 | + | 16 | 0.5807 | 0.5278 | 0.5182 | 0.0625 | donor | a0001c0001t0002 | NA18986.hp1 | NA19000.hp2 | 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 |
|
chr16:8705306
|
c.-41-30393G>A |
Protein quantitative trait loci (liver)0 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0017a0004c0014 | a0001c0001t0003a0001c0001t0008a0002c0002t0002a0002c0002t0003a0002c0002t0006others(3): Show | a0001c0001t0003g0042a0001c0001t0008g0040a0002c0002t0002g0006a0002c0002t0003g0309a0002c0002t0006g0043others(3): Show | HG01192.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02723.hp2 others(3): Show |
Genome-wide pQTL analysis of protein expression re others(37): Show |
172 European ancestry individuals, 29 Black indivi others(22): Show |
NR | ABAT | rs59791969-A | + | MODIFIER | chr16 | G | A |
|
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 |
|
chr16:8747452
|
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 | |
|
chr16:8670571
|
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 |