| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:106079613
|
T | C | 0.0198 | synonymous_variant | LOW | NA18946.hp2 NA18948.hp1 NA18960.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0003a0001c0002t0003g0028a0001c0002t0003g0047 | 8 | 404 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 2/6 | c.330T>C | p.Ser110Ser | 379/2767 | 330/930 | 110/309 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr11:106098227
|
G | A | 0.1559 | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG02015.hp1 others(60): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0011a0001c0001t0014others(1): Show | a0001c0001t0003g0003a0001c0001t0003g0009a0001c0001t0003g0011others(17): Show | 63 | 404 | 0 | AASDHPPT | ENSG00000149313.11 | transcript | ENST00000278618.9 | protein_coding | 6/6 | c.*1320G>A | 1320 | |||||
|
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 |
| 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 | 0/0 | c0002 | 930 | 8 | 0 | 0 | 8 | 0 | 0 | copy fasta | chr11 | 106072662 | 106103695 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | t0003 | 1838 | 59 | 0 | 0 | 57 | 0 | 2 | 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 |
achapid | total | AFR | AMR | EAS | EUR | SAS | clen | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AASDHPPT | 0/0 | a0001c0002 | 8 | 0 | 0 | 8 | 0 | 0 | 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 | a0001c0002t0003 | 8 | 0 | 0 | 8 | 0 | 0 | 2767 | copy fasta | 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 | -0.7026 | -0.7026 | -0.7026 | 0.0000 | acceptor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106079467 | + | 2 | 0.9979 | 0.9979 | 0.9979 | 0.0000 | donor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106079692 | + | 2 | -0.9985 | -0.9985 | -0.9985 | 0.0000 | acceptor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106090557 | + | 3 | 0.9448 | 0.9448 | 0.9442 | 0.0006 | donor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(2): Show |
NA19072.hp1 | AASDHPPT | chr11 | 106072662 | 106103695 |
| 106090678 | + | 3 | -0.9201 | -0.9198 | -0.9198 | 0.0003 | acceptor | a0001c0002t0003 | NA19072.hp1 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(2): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106091316 | + | 4 | 0.9977 | 0.9977 | 0.9977 | 0.0000 | donor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(2): Show |
NA19072.hp1 | AASDHPPT | chr11 | 106072662 | 106103695 |
| 106091477 | + | 4 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(2): Show |
NA19072.hp1 | AASDHPPT | chr11 | 106072662 | 106103695 |
| 106094583 | + | 5 | 0.9963 | 0.9963 | 0.9963 | 0.0000 | donor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(2): Show |
NA19072.hp1 | AASDHPPT | chr11 | 106072662 | 106103695 |
| 106094654 | + | 5 | -0.9984 | -0.9984 | -0.9984 | 0.0000 | acceptor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
AASDHPPT | chr11 | 106072662 | 106103695 |
| 106096743 | + | 6 | 0.9969 | 0.9969 | 0.9969 | 0.0000 | donor | a0001c0002t0003 | NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): Show |
NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18961.hp2 NA18991.hp1 others(3): 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 |
|---|