| geneid | 10157 |
|---|---|
| ensemblid | ENSG00000008311.16 |
| hgncid | 17366 |
| symbol | AASS |
| name | aminoadipate-semialdehyde synthase |
| refseq_nuc | NM_005763.4 |
| refseq_prot | NP_005754.2 |
| ensembl_nuc | ENST00000417368.7 |
| ensembl_prot | ENSP00000403768.2 |
| mane_status | MANE Select |
| chr | chr7 |
| start | 122073549 |
| end | 122144249 |
| strand | - |
| ver | v1.2 |
| region | chr7:122073549-122144249 |
| region5000 | chr7:122068549-122149249 |
| regionname0 | AASS_chr7_122073549_122144249 |
| regionname5000 | AASS_chr7_122068549_122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr7:122074599
|
C | T | 0.7266 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(233): Show | 279 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*1890G>A | 1890 | |||||
|
chr7:122075517
|
G | A | 0.0964 | 3_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(34): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0029a0001c0001t0030others(1): Show | a0001c0001t0004g0002a0001c0001t0004g0007a0001c0001t0004g0008others(22): Show | 37 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*972C>T | 972 | |||||
|
chr7:122075911
|
C | T | 0.7240 | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0 | AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 24/24 | c.*578G>A | 578 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001 | 926 | 368 | 81 | 74 | 164 | 11 | 36 | subcellular location copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | c0001 | 2781 | 363 | 78 | 74 | 164 | 10 | 35 | copy fasta | chr7 | 122068549 | 122149249 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | t0004 | 3045 | 35 | 9 | 3 | 23 | 0 | 0 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 1/1 | a0001c0001 | 363 | 78 | 74 | 164 | 10 | 35 | 2781 | copy fasta | chr7 | 122068549 | 122149249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASS | 0/0 | a0001c0001t0004 | 34 | 9 | 3 | 22 | 0 | 0 | 5825 | copy fasta | chr7 | 122068549 | 122149249 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 122144161 | - | 1 | -0.9134 | -0.9076 | -0.9063 | 0.0071 | acceptor | a0001c0001t0004 | HG02055.hp1 HG02109.hp1 HG02486.hp1 HG02630.hp2 HG03225.hp1 others(2): Show |
NA18986.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122133517 | - | 2 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(28): Show |
NA18947.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122133741 | - | 2 | 0.9863 | 0.9862 | 0.9862 | 0.0000 | donor | a0001c0001t0004 | NA18947.hp1 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(28): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122129361 | - | 3 | -0.9863 | -0.9863 | -0.9849 | 0.0014 | acceptor | a0001c0001t0004 | NA18957.hp1 NA18980.hp2 NA19000.hp1 NA19005.hp1 NA19007.hp2 others(4): Show |
HG01496.hp2 | AASS | chr7 | 122068549 | 122149249 |
| 122129537 | - | 3 | 0.9718 | 0.9718 | 0.9699 | 0.0020 | donor | a0001c0001t0004 | NA18947.hp1 | HG01496.hp2 | AASS | chr7 | 122068549 | 122149249 |
| 122126375 | - | 4 | -0.9969 | -0.9969 | -0.9969 | 0.0001 | acceptor | a0001c0001t0004 | NA18947.hp1 NA18957.hp1 NA18980.hp2 NA19000.hp1 NA19005.hp1 others(5): Show |
HG01496.hp2 | AASS | chr7 | 122068549 | 122149249 |
| 122126459 | - | 4 | 0.9974 | 0.9974 | 0.9973 | 0.0001 | donor | a0001c0001t0004 | HG02135.hp2 | NA18947.hp1 NA18957.hp1 NA18980.hp2 NA19000.hp1 NA19005.hp1 others(5): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122118563 | - | 5 | -0.9845 | -0.9845 | -0.9845 | 0.0000 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122118630 | - | 5 | 0.9862 | 0.9862 | 0.9860 | 0.0002 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122118307 | - | 6 | -0.9813 | -0.9813 | -0.9811 | 0.0002 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122118453 | - | 6 | 0.9877 | 0.9877 | 0.9876 | 0.0001 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122116879 | - | 7 | -0.9953 | -0.9953 | -0.9952 | 0.0001 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122116957 | - | 7 | 0.9975 | 0.9975 | 0.9975 | 0.0001 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122116633 | - | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122116760 | - | 8 | 0.9989 | 0.9989 | 0.9989 | 0.0000 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122115074 | - | 9 | -0.9344 | -0.9344 | -0.9333 | 0.0012 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122115222 | - | 9 | 0.9547 | 0.9547 | 0.9532 | 0.0015 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122113598 | - | 10 | -0.9922 | -0.9922 | -0.9922 | 0.0000 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122113720 | - | 10 | 0.9807 | 0.9807 | 0.9806 | 0.0002 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(27): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122113118 | - | 11 | -0.9944 | -0.9944 | -0.9943 | 0.0001 | acceptor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(25): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122113229 | - | 11 | 0.9808 | 0.9808 | 0.9807 | 0.0001 | donor | a0001c0001t0004 | HG01496.hp2 HG01891.hp2 HG02055.hp1 HG02109.hp1 HG02135.hp2 others(25): Show |
HG01069.hp2 HG01071.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122101621 | - | 12 | -0.9831 | -0.9830 | -0.9766 | 0.0065 | acceptor | a0001c0001t0004 | HG02165.hp2 NA19070.hp2 |
HG02055.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101680 | - | 12 | 0.9940 | 0.9937 | 0.9936 | 0.0005 | donor | a0001c0001t0004 | NA18986.hp1 | HG02055.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101371 | - | 13 | -0.9920 | -0.9920 | -0.9864 | 0.0055 | acceptor | a0001c0001t0004 | HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(13): Show |
HG02055.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122101438 | - | 13 | 0.9389 | 0.9252 | 0.9230 | 0.0159 | donor | a0001c0001t0004 | HG02055.hp1 | NA19091.hp2 | AASS | chr7 | 122068549 | 122149249 |
| 122098745 | - | 14 | -0.7529 | -0.7129 | -0.6559 | 0.0970 | acceptor | a0001c0001t0004 | NA18986.hp1 | HG02055.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098866 | - | 14 | 0.8590 | 0.8584 | 0.7286 | 0.1304 | donor | a0001c0001t0004 | NA19091.hp2 | HG02055.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098450 | - | 15 | -0.9957 | -0.9944 | -0.9943 | 0.0013 | acceptor | a0001c0001t0004 | NA18986.hp1 | NA19000.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122098576 | - | 15 | 0.9858 | 0.9838 | 0.9807 | 0.0052 | donor | a0001c0001t0004 | NA19000.hp1 | NA18986.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122093048 | - | 16 | -0.9809 | -0.9809 | -0.9809 | 0.0000 | acceptor | a0001c0001t0004 | HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122093158 | - | 16 | 0.9836 | 0.9836 | 0.9836 | 0.0000 | donor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122092843 | - | 17 | -0.9819 | -0.9819 | -0.9819 | 0.0000 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122092951 | - | 17 | 0.9861 | 0.9861 | 0.9861 | 0.0000 | donor | a0001c0001t0004 | HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122091703 | - | 18 | -0.9400 | -0.9400 | -0.9400 | 0.0001 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122091843 | - | 18 | 0.9333 | 0.9333 | 0.9329 | 0.0003 | donor | a0001c0001t0004 | HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122086012 | - | 19 | -0.9982 | -0.9982 | -0.9982 | 0.0000 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(7): Show |
HG02135.hp2 HG02165.hp2 NA18612.hp1 NA18947.hp1 NA18950.hp1 others(17): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122086179 | - | 19 | 0.9097 | 0.9094 | 0.9091 | 0.0006 | donor | a0001c0001t0004 | NA18950.hp1 | HG01069.hp2 HG01071.hp1 HG01891.hp2 HG02055.hp1 HG02109.hp1 others(6): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122081500 | - | 20 | -0.9338 | -0.9329 | -0.9329 | 0.0009 | acceptor | a0001c0001t0004 | NA18612.hp1 NA18975.hp1 NA19082.hp1 NA19084.hp1 |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(24): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122081595 | - | 20 | 0.8496 | 0.8496 | 0.8487 | 0.0009 | donor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(28): Show |
NA18950.hp1 | AASS | chr7 | 122068549 | 122149249 |
| 122079597 | - | 21 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0004 | NA18612.hp1 NA18975.hp1 NA19082.hp1 NA19084.hp1 |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(24): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122079712 | - | 21 | 0.9967 | 0.9967 | 0.9967 | 0.0000 | donor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(25): Show |
NA18612.hp1 NA18975.hp1 NA19082.hp1 NA19084.hp1 |
AASS | chr7 | 122068549 | 122149249 |
| 122078862 | - | 22 | -0.9018 | -0.9017 | -0.9017 | 0.0000 | acceptor | a0001c0001t0004 | NA18612.hp1 NA18975.hp1 NA19082.hp1 NA19084.hp1 |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(24): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122078950 | - | 22 | 0.7262 | 0.7259 | 0.7259 | 0.0003 | donor | a0001c0001t0004 | NA18612.hp1 NA18975.hp1 NA19082.hp1 NA19084.hp1 |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(24): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122077838 | - | 23 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122078014 | - | 23 | 0.9992 | 0.9992 | 0.9992 | 0.0000 | donor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
AASS | chr7 | 122068549 | 122149249 |
| 122076607 | - | 24 | 0.9463 | 0.9463 | 0.9463 | 0.0000 | donor | a0001c0001t0004 | HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
HG01069.hp2 HG01071.hp1 HG01496.hp2 HG01891.hp2 HG02055.hp1 others(29): Show |
AASS | chr7 | 122068549 | 122149249 |
| 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 |
|---|