| geneid | 26574 |
|---|---|
| ensemblid | ENSG00000275700.6 |
| hgncid | 19235 |
| symbol | AATF |
| name | apoptosis antagonizing transcription factor |
| refseq_nuc | NM_012138.4 |
| refseq_prot | NP_036270.1 |
| ensembl_nuc | ENST00000619387.5 |
| ensembl_prot | ENSP00000477848.1 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 36948954 |
| end | 37056871 |
| strand | + |
| ver | v1.2 |
| region | chr17:36948954-37056871 |
| region5000 | chr17:36943954-37061871 |
| regionname0 | AATF_chr17_36948954_37056871 |
| regionname5000 | AATF_chr17_36943954_37061871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:36991587
|
C | CT | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(74): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0024others(73): Show | 77 | 245 | 0.3143 | 1 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | c.1398+746dupT | INFO_REALIGN_3_PRIME | |||||
|
chr17:37001405
|
G | GAGGA | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01175.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0055a0001c0001t0001g0118a0001c0001t0001g0120others(20): Show | 23 | 245 | 0.0939 | 4 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | c.1398+10595_1398+10598dupGAAG | INFO_REALIGN_3_PRIME | |||||
|
chr17:37002903
|
G | GT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00639.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0005 | a0001c0001t0001g0014a0001c0001t0001g0042a0001c0001t0001g0068others(11): Show | 14 | 245 | 0.0571 | 1 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | c.1398+12068dupT | INFO_REALIGN_3_PRIME | |||||
|
chr17:37009823
|
C | CA | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp1 HG00621.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0023a0001c0001t0001g0038a0001c0001t0001g0040others(48): Show | 51 | 245 | 0.2082 | 1 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | c.1399-9155dupA | INFO_REALIGN_3_PRIME | |||||
|
chr17:37012333
|
G | A | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 245 | 0.0041 | 0 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | c.1399-6672G>A | ||||||
|
chr17:37021354
|
C | T | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 245 | 0.0041 | 0 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | c.1547+340C>T | ||||||
|
chr17:37021822
|
T | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(82): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0021a0001c0001t0001g0022others(82): Show | 85 | 245 | 0.3469 | 0 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | c.1547+808T>A | ||||||
|
chr17:37023490
|
T | TATTCTTT others(23): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0017a0001c0001t0001g0022a0001c0001t0001g0023others(61): Show | 64 | 245 | 0.2612 | 30 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | c.1547+2646_1547+2675dupTAAAAAGAGGCATTCTTTTTAAACAGAGTT | INFO_REALIGN_3_PRIME | |||||
|
chr17:37027891
|
C | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(242): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(241): Show | 245 | 245 | 1.0000 | 0 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | c.1548-3723C>G | ||||||
|
chr17:37040471
|
T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(240): Show | 244 | 245 | 0.9959 | 1 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | c.1619+8796dupA | INFO_REALIGN_3_PRIME | |||||
|
chr17:37046576
|
A | AC | intron_variant | MODIFIER | HG00544.hp1 HG01175.hp2 HG01361.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0004others(1): Show | a0001c0001t0001g0032a0001c0001t0001g0057a0001c0001t0001g0061others(14): Show | 17 | 245 | 0.0694 | 1 | AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | c.1620-10022dupC | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/1 | a0001 | 560 | 233 | 78 | 43 | 80 | 8 | 23 | subcellular location copy fasta | chr17 | 36943954 | 37061871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/1 | c0001 | 1683 | 192 | 64 | 35 | 70 | 6 | 16 | copy fasta | chr17 | 36943954 | 37061871 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/0 | t0001 | 380 | 166 | 71 | 31 | 46 | 5 | 13 | copy fasta | chr17 | 36943954 | 37061871 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/0 | g0205 | 1 | 0 | 1 | 0 | 0 | 0 | chr17 | 36943954 | 37061871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/1 | a0001c0001 | 192 | 64 | 35 | 70 | 6 | 16 | 1683 | copy fasta | chr17 | 36943954 | 37061871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/0 | a0001c0001t0001 | 147 | 56 | 30 | 44 | 5 | 12 | 2062 | copy fasta | chr17 | 36943954 | 37061871 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| AATF | 0/0 | a0001c0001t0001g0205 | 1 | 0 | 1 | 0 | 0 | 0 | chr17 | 36943954 | 37061871 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 36949216 | + | 1 | -0.9574 | -0.9574 | -0.9574 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36950214 | + | 2 | 0.9890 | 0.9890 | 0.9890 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36950405 | + | 2 | -0.9937 | -0.9937 | -0.9937 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36952886 | + | 3 | 0.9974 | 0.9974 | 0.9974 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36953296 | + | 3 | -0.9971 | -0.9971 | -0.9971 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36953770 | + | 4 | 0.9437 | 0.9437 | 0.9437 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36953907 | + | 4 | -0.9469 | -0.9469 | -0.9469 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36986617 | + | 5 | 0.9536 | 0.9536 | 0.9536 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36986731 | + | 5 | -0.9742 | -0.9742 | -0.9742 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36988519 | + | 6 | 0.9950 | 0.9950 | 0.9950 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36988720 | + | 6 | -0.8064 | -0.8064 | -0.8064 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36989247 | + | 7 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36989411 | + | 7 | -0.9988 | -0.9988 | -0.9988 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36990774 | + | 8 | 0.9944 | 0.9944 | 0.9944 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 36990857 | + | 8 | -0.9995 | -0.9995 | -0.9995 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37019005 | + | 9 | 0.9988 | 0.9988 | 0.9988 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37019072 | + | 9 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37020934 | + | 10 | 0.9926 | 0.9926 | 0.9926 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37021014 | + | 10 | -0.9912 | -0.9912 | -0.9912 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37031614 | + | 11 | 0.9726 | 0.9726 | 0.9726 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37031685 | + | 11 | -0.9917 | -0.9917 | -0.9917 | 0.0000 | acceptor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 37056601 | + | 12 | 0.7088 | 0.7088 | 0.7088 | 0.0000 | donor | a0001c0001t0001g0205 | HG01175.hp2 | HG01175.hp2 | AATF | chr17 | 36943954 | 37061871 |
| 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 |
|---|