| geneid | 60496 |
|---|---|
| ensemblid | ENSG00000149313.11 |
| hgncid | 14235 |
| symbol | AASDHPPT |
| name | aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase |
| refseq_nuc | NM_015423.3 |
| refseq_prot | NP_056238.2 |
| ensembl_nuc | ENST00000278618.9 |
| ensembl_prot | ENSP00000278618.4 |
| mane_status | MANE Select |
| chr | chr11 |
| start | 106077662 |
| end | 106098695 |
| strand | + |
| ver | v1.2 |
| region | chr11:106077662-106098695 |
| region5000 | chr11:106072662-106103695 |
| regionname0 | AASDHPPT_chr11_106077662_106098695 |
| regionname5000 | AASDHPPT_chr11_106072662_106103695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:106098374
|
A | G | 0.3168 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(47): Show | 128 | 404 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | c.*1467A>G | 1467 | |||||
|
chr11:106098531
|
T | A | 0.3168 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(47): Show | 128 | 404 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | c.*1624T>A | 1624 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:106079944
|
T | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(43): Show | 124 | 404 | 0.3069 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+252T>C | ||||||
|
chr11:106080079
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+387G>A | ||||||
|
chr11:106080333
|
G | A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(87): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0019a0001c0001t0002g0030others(28): Show | 90 | 404 | 0.2228 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+641G>A | ||||||
|
chr11:106081370
|
C | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+1678C>A | ||||||
|
chr11:106081395
|
C | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+1703C>T | ||||||
|
chr11:106081616
|
CACAACTA others(10): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(47): Show | 128 | 404 | 0.3168 | -17 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+1926_409+1942delCAACTACCTGGTAATAA | INFO_REALIGN_3_PRIME | |||||
|
chr11:106082471
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+2779T>C | ||||||
|
chr11:106083244
|
T | C | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(47): Show | 128 | 404 | 0.3168 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+3552T>C | ||||||
|
chr11:106084855
|
A | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(136): Show | 403 | 404 | 0.9975 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.409+5163A>G | ||||||
|
chr11:106086793
|
A | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.410-3764A>T | ||||||
|
chr11:106087400
|
T | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.410-3157T>C | ||||||
|
chr11:106087574
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(124): Show | 379 | 404 | 0.9381 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.410-2983G>A | ||||||
|
chr11:106089952
|
T | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(377): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(125): Show | 380 | 404 | 0.9406 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/5 | c.410-605T>G | ||||||
|
chr11:106091195
|
G | T | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(42): Show | 123 | 404 | 0.3045 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 3/5 | c.532-121G>T | ||||||
|
chr11:106094144
|
T | TA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00735.hp1 others(121): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0005a0001c0001t0002g0015others(43): Show | 124 | 404 | 0.3069 | 1 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 4/5 | c.694-433dupA | INFO_REALIGN_3_PRIME |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 1/1 | a0001 | 309 | 403 | 91 | 66 | 194 | 12 | 38 | subcellular location copy fasta | chr11 | 106072662 | 106103695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 1/1 | c0001 | 930 | 392 | 89 | 66 | 186 | 12 | 37 | copy fasta | chr11 | 106072662 | 106103695 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | t0002 | 1838 | 63 | 39 | 6 | 17 | 0 | 1 | copy fasta | chr11 | 106072662 | 106103695 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | g0003 | 39 | 9 | 3 | 25 | 0 | 2 | chr11 | 106072662 | 106103695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 1/1 | a0001c0001 | 392 | 89 | 66 | 186 | 12 | 37 | 930 | copy fasta | chr11 | 106072662 | 106103695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | a0001c0001t0002 | 61 | 37 | 6 | 17 | 0 | 1 | 2767 | copy fasta | chr11 | 106072662 | 106103695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | a0001c0001t0002g0003 | 12 | 9 | 3 | 0 | 0 | 0 | chr11 | 106072662 | 106103695 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 106077893 | + | 1 | -0.7021 | -0.7020 | -0.7018 | 0.0003 | acceptor | a0001c0001t0002g0003 | NA20300.hp2 | HG02922.hp2 | AASDHPPT | chr11 | 106072662 | 106103695 |
| 106079467 | + | 2 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106079692 | + | 2 | -0.9986 | -0.9986 | -0.9986 | 0.0000 | acceptor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106090557 | + | 3 | 0.9448 | 0.9448 | 0.9448 | 0.0000 | donor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106090678 | + | 3 | -0.9198 | -0.9198 | -0.9198 | 0.0000 | acceptor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106091316 | + | 4 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106091477 | + | 4 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106094583 | + | 5 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106094654 | + | 5 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0001t0002g0003 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106096743 | + | 6 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0001c0001t0002g0003 | HG02922.hp2 | HG00735.hp1 HG01071.hp1 HG01099.hp2 HG02145.hp1 HG02258.hp2 others(6): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 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 |
|---|
