| geneid | 51166 |
|---|---|
| ensemblid | ENSG00000109576.14 |
| hgncid | 17929 |
| symbol | AADAT |
| name | aminoadipate aminotransferase |
| refseq_nuc | NM_016228.4 |
| refseq_prot | NP_057312.1 |
| ensembl_nuc | ENST00000337664.9 |
| ensembl_prot | ENSP00000336808.4 |
| mane_status | MANE Select |
| chr | chr4 |
| start | 170060222 |
| end | 170089956 |
| strand | - |
| ver | v1.2 |
| region | chr4:170060222-170089956 |
| region5000 | chr4:170055222-170094956 |
| regionname0 | AADAT_chr4_170060222_170089956 |
| regionname5000 | AADAT_chr4_170055222_170094956 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr4:170080651
|
C | T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 378 | 0.0053 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-2068G>A | ||||||
|
chr4:170080674
|
T | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 2 | 378 | 0.0053 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3/12 | c.370-2091A>G | ||||||
|
chr4:170087545
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(373): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(201): Show | 376 | 378 | 0.9947 | 0 | AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 2/12 | c.237-297C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | a0001 | 425 | 378 | 94 | 62 | 154 | 18 | 48 | subcellular location copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | c0001 | 1278 | 365 | 94 | 62 | 141 | 18 | 48 | copy fasta | chr4 | 170055222 | 170094956 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/0 | t0001 | 973 | 349 | 88 | 54 | 149 | 17 | 40 | copy fasta | chr4 | 170055222 | 170094956 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 0/0 | g0036 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/1 | a0001c0001 | 365 | 94 | 62 | 141 | 18 | 48 | 1278 | copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 1/0 | a0001c0001t0001 | 336 | 88 | 54 | 136 | 17 | 40 | 2250 | copy fasta | chr4 | 170055222 | 170094956 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AADAT | 0/0 | a0001c0001t0001g0036 | 2 | 0 | 2 | 0 | 0 | 0 | chr4 | 170055222 | 170094956 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 170089624 | - | 1 | -0.9648 | -0.9648 | -0.9648 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170088396 | - | 2 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170088564 | - | 2 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170087116 | - | 3 | -0.9616 | -0.9616 | -0.9616 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170087248 | - | 3 | 0.9564 | 0.9564 | 0.9564 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170078509 | - | 4 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170078583 | - | 4 | 0.9938 | 0.9938 | 0.9938 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170073136 | - | 5 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170073345 | - | 5 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170070587 | - | 6 | -0.9817 | -0.9817 | -0.9817 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170070652 | - | 6 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170069148 | - | 7 | -0.9106 | -0.9106 | -0.9106 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170069230 | - | 7 | 0.8161 | 0.8161 | 0.8161 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170068591 | - | 8 | -0.9388 | -0.9388 | -0.9388 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170068687 | - | 8 | 0.9765 | 0.9765 | 0.9765 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170067327 | - | 9 | -0.9874 | -0.9874 | -0.9874 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170067388 | - | 9 | 0.9964 | 0.9964 | 0.9964 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170066414 | - | 10 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170066478 | - | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170064719 | - | 11 | -0.7049 | -0.7049 | -0.7049 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170064825 | - | 11 | 0.8956 | 0.8956 | 0.8956 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170061892 | - | 12 | -0.8218 | -0.8217 | -0.8218 | 0.0000 | acceptor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170061993 | - | 12 | 0.8166 | 0.8166 | 0.8166 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 170060969 | - | 13 | 0.6345 | 0.6345 | 0.6345 | 0.0000 | donor | a0001c0001t0001g0036 | HG01070.hp1 HG01071.hp1 |
HG01070.hp1 HG01071.hp1 |
AADAT | chr4 | 170055222 | 170094956 |
| 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 |
|---|
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 170087545:splice 170087545:variant goto | AADATintron_variantc.237-297C>T | MFAP3L Artery_Aorta 4.386 0.591 | 129204 | a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(199): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(371): Show |
0.970 | 28 | 28 | 10 | chr4_170087545_G_A_b38 | - | MODIFIER | chr4 | G | A | TogoVar |
| 170056852:splice 170056852:variant goto | AADATdownstream_gene_variantc.*4076G>A others(3): Show |
MFAP3L Muscle_Skeletal 4.366 -0.409 | 1118 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0036a0001c0001t0001g0117a0001c0001t0001g0119a0001c0001t0001g0129others(3): Show | HG00140.hp2 HG00642.hp1 HG00642.hp2 HG01070.hp1 HG01071.hp1 others(10): Show |
0.050 | 76 | 81 | 10 | chr4_170056852_C_T_b38 | - | MODIFIER | chr4 | C | T | TogoVar |