| geneid | 16 |
|---|---|
| ensemblid | ENSG00000090861.17 |
| hgncid | 20 |
| symbol | AARS1 |
| name | alanyl-tRNA synthetase 1 |
| refseq_nuc | NM_001605.3 |
| refseq_prot | NP_001596.2 |
| ensembl_nuc | ENST00000261772.13 |
| ensembl_prot | ENSP00000261772.8 |
| mane_status | MANE Select |
| chr | chr16 |
| start | 70252298 |
| end | 70289506 |
| strand | - |
| ver | v1.2 |
| region | chr16:70252298-70289506 |
| region5000 | chr16:70247298-70294506 |
| regionname0 | AARS1_chr16_70252298_70289506 |
| regionname5000 | AARS1_chr16_70247298_70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr16:70262967
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(50): Show |
a0001a0004a0011 | a0001c0002a0001c0003a0001c0012others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0002a0001c0002t0001g0154a0001c0002t0001g0161others(49): Show | 53 | 362 | 0.1464 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | c.1493-444delT | ||||||
|
chr16:70269322
|
GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(17): Show |
a0001a0002a0008 | a0001c0002a0001c0003a0001c0019others(2): Show | a0001c0002t0001a0001c0003t0001a0001c0019t0001others(2): Show | a0001c0002t0001g0188a0001c0002t0001g0219a0001c0002t0001g0224others(17): Show | 20 | 362 | 0.0553 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 7/20 | c.962+295delT | ||||||
|
chr16:70279350
|
CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(110): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0129a0001c0002t0001g0002others(109): Show | 113 | 362 | 0.3122 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.145-2197delT | ||||||
|
chr16:70282331
|
G | GA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(314): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007others(312): Show | 317 | 362 | 0.8757 | 1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 2/20 | c.144+288dupT | ||||||
|
chr16:70287254
|
C | CAA | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00639.hp1 others(70): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(7): Show | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0166others(70): Show | 73 | 362 | 0.2017 | 2 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+2165_-22+2166dupTT | ||||||
|
chr16:70288565
|
CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(257): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(19): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0008others(255): Show | 260 | 362 | 0.7182 | -1 | AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | c.-22+855delA |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/1 | a0001 | 968 | 325 | 52 | 72 | 147 | 14 | 38 | subcellular location copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/0 | c0003 | 2907 | 36 | 1 | 15 | 6 | 4 | 9 | copy fasta | chr16 | 70247298 | 70294506 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/1 | t0001 | 531 | 340 | 71 | 68 | 147 | 13 | 39 | copy fasta | chr16 | 70247298 | 70294506 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | g0305 | 1 | 0 | 1 | 0 | 0 | 0 | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/0 | a0001c0003 | 36 | 1 | 15 | 6 | 4 | 9 | 2907 | copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 1/0 | a0001c0003t0001 | 36 | 1 | 15 | 6 | 4 | 9 | 3437 | copy fasta | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AARS1 | 0/0 | a0001c0003t0001g0305 | 1 | 0 | 1 | 0 | 0 | 0 | chr16 | 70247298 | 70294506 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70282620 | - | 2 | -0.9996 | -0.9996 | -0.9996 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70282784 | - | 2 | 0.9987 | 0.9987 | 0.9987 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276966 | - | 3 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70277154 | - | 3 | 0.9952 | 0.9951 | 0.9952 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276486 | - | 4 | -0.9978 | -0.9978 | -0.9978 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70276631 | - | 4 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271781 | - | 5 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70271972 | - | 5 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270196 | - | 6 | -0.9665 | -0.9665 | -0.9665 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70270340 | - | 6 | 0.8043 | 0.8043 | 0.8043 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269618 | - | 7 | -0.9987 | -0.9987 | -0.9987 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70269763 | - | 7 | 0.9971 | 0.9971 | 0.9971 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268271 | - | 8 | -0.9970 | -0.9970 | -0.9970 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70268379 | - | 8 | 0.9924 | 0.9924 | 0.9924 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267659 | - | 9 | -0.9993 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70267809 | - | 9 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265538 | - | 10 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265662 | - | 10 | 0.9984 | 0.9984 | 0.9984 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70264958 | - | 11 | -0.9973 | -0.9973 | -0.9973 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70265102 | - | 11 | 0.9937 | 0.9937 | 0.9937 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262346 | - | 12 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70262524 | - | 12 | 0.9864 | 0.9864 | 0.9864 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261044 | - | 13 | -0.9937 | -0.9937 | -0.9937 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70261157 | - | 13 | 0.9965 | 0.9965 | 0.9965 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258980 | - | 14 | -0.9883 | -0.9882 | -0.9883 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70259186 | - | 14 | 0.9881 | 0.9881 | 0.9881 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258033 | - | 15 | -0.8711 | -0.8711 | -0.8711 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70258217 | - | 15 | 0.9076 | 0.9076 | 0.9076 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255728 | - | 16 | -0.9979 | -0.9979 | -0.9979 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70255836 | - | 16 | 0.9953 | 0.9953 | 0.9953 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254621 | - | 17 | -0.9966 | -0.9966 | -0.9966 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254734 | - | 17 | 0.9973 | 0.9973 | 0.9973 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253919 | - | 18 | -0.9989 | -0.9989 | -0.9989 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70254038 | - | 18 | 0.9980 | 0.9980 | 0.9980 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253714 | - | 19 | -0.7633 | -0.7633 | -0.7633 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253800 | - | 19 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253268 | - | 20 | -0.9969 | -0.9969 | -0.9969 | 0.0000 | acceptor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70253381 | - | 20 | 0.9948 | 0.9948 | 0.9948 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 70252906 | - | 21 | 0.9924 | 0.9923 | 0.9924 | 0.0000 | donor | a0001c0003t0001g0305 | HG00639.hp1 | HG00639.hp1 | AARS1 | chr16 | 70247298 | 70294506 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 70282331:splice 70282331:variant goto | c.144+288dupT | 1241551 | Benign | AARS1:16 | SO:0001627 intron_variant |
MedGen:C3661900 | - | 10 | 17 | 23 | 315 | a0001a0002a0003a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0010others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(310): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 others(312): Show |
MODIFIER | chr16 | G | GA | TogoVar |
| 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 |
|---|