| geneid | 9625 |
|---|---|
| ensemblid | ENSG00000181409.14 |
| hgncid | 21 |
| symbol | AATK |
| name | apoptosis associated tyrosine kinase |
| refseq_nuc | NM_001080395.3 |
| refseq_prot | NP_001073864.2 |
| ensembl_nuc | ENST00000326724.9 |
| ensembl_prot | ENSP00000324196.4 |
| mane_status | MANE Select |
| chr | chr17 |
| start | 81117295 |
| end | 81166221 |
| strand | - |
| ver | v1.2 |
| region | chr17:81117295-81166221 |
| region5000 | chr17:81112295-81171221 |
| regionname0 | AATK_chr17_81117295_81166221 |
| regionname5000 | AATK_chr17_81112295_81171221 |
| 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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AATK | 1/0 | a0001 | 1374 | 104 | 13 | 17 | 57 | 5 | 11 | subcellular location copy fasta | chr17 | 81112295 | 81171221 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 81165938 | - | 1 | -0.8481 | -0.8320 | -0.7943 | 0.0538 | acceptor | a0001 | NA21309.hp2 | HG03491.hp1 HG03492.hp1 HG03834.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81134368 | - | 2 | -0.9714 | -0.9713 | -0.9692 | 0.0022 | acceptor | a0001 | HG02165.hp2 | NA19056.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81134501 | - | 2 | 0.9871 | 0.9864 | 0.9857 | 0.0014 | donor | a0001 | HG02280.hp1 | HG00544.hp2 NA19009.hp2 |
AATK | chr17 | 81112295 | 81171221 |
| 81131061 | - | 3 | -0.9952 | -0.9951 | -0.9947 | 0.0005 | acceptor | a0001 | HG01071.hp1 | homoSapiens_grch38.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81131205 | - | 3 | 0.9789 | 0.9770 | 0.9757 | 0.0032 | donor | a0001 | HG01168.hp1 | HG02280.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81128470 | - | 4 | -0.9993 | -0.9989 | -0.9988 | 0.0004 | acceptor | a0001 | HG00544.hp2 HG03927.hp2 NA18940.hp1 NA18950.hp1 NA18960.hp1 others(11): Show |
NA18993.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81128549 | - | 4 | 0.9963 | 0.9928 | 0.9922 | 0.0041 | donor | a0001 | HG03139.hp1 | HG01106.hp2 NA19056.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81127792 | - | 5 | -0.9871 | -0.9870 | -0.9836 | 0.0035 | acceptor | a0001 | NA18955.hp1 | NA19056.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81127910 | - | 5 | 0.9968 | 0.9963 | 0.9962 | 0.0006 | donor | a0001 | HG01168.hp1 | NA19056.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81127583 | - | 6 | -0.9984 | -0.9983 | -0.9977 | 0.0007 | acceptor | a0001 | HG03139.hp1 | NA19002.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81127670 | - | 6 | 0.9963 | 0.9962 | 0.9951 | 0.0012 | donor | a0001 | HG01168.hp1 | NA19002.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81126427 | - | 7 | -0.9992 | -0.9992 | -0.9989 | 0.0003 | acceptor | a0001 | NA18747.hp2 NA18966.hp1 NA18993.hp2 NA19082.hp2 |
NA19002.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81126560 | - | 7 | 0.9983 | 0.9980 | 0.9978 | 0.0004 | donor | a0001 | NA19002.hp1 | HG03139.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124930 | - | 8 | -0.9929 | -0.9919 | -0.9910 | 0.0020 | acceptor | a0001 | HG01515.hp1 homoSapiens_grch38.hp1 |
NA18977.hp2 NA19002.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81125014 | - | 8 | 0.9945 | 0.9904 | 0.9901 | 0.0044 | donor | a0001 | homoSapiens_grch38.hp1 | NA18955.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124727 | - | 9 | -0.9987 | -0.9986 | -0.9983 | 0.0005 | acceptor | a0001 | HG01071.hp1 | HG01168.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81124848 | - | 9 | 0.9994 | 0.9994 | 0.9991 | 0.0003 | donor | a0001 | HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 others(71): Show |
HG01515.hp1 homoSapiens_grch38.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81123194 | - | 10 | -0.9930 | -0.9930 | -0.9917 | 0.0013 | acceptor | a0001 | NA18949.hp1 NA19072.hp1 |
HG01071.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81123343 | - | 10 | 0.9964 | 0.9963 | 0.9959 | 0.0005 | donor | a0001 | HG02165.hp2 HG02280.hp1 NA18977.hp2 NA18986.hp2 NA19002.hp1 others(2): Show |
HG01168.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81120201 | - | 11 | -0.9933 | -0.9927 | -0.9913 | 0.0020 | acceptor | a0001 | HG03139.hp1 | HG01515.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81122823 | - | 11 | 0.9939 | 0.9935 | 0.9929 | 0.0010 | donor | a0001 | NA19002.hp1 | HG03139.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81119936 | - | 12 | -0.9664 | -0.9630 | -0.9581 | 0.0083 | acceptor | a0001 | HG03239.hp1 | HG01168.hp2 HG01169.hp1 |
AATK | chr17 | 81112295 | 81171221 |
| 81120083 | - | 12 | 0.9357 | 0.9232 | 0.9106 | 0.0251 | donor | a0001 | NA19072.hp1 | NA21309.hp2 | AATK | chr17 | 81112295 | 81171221 |
| 81119380 | - | 13 | -0.9949 | -0.9864 | -0.9824 | 0.0125 | acceptor | a0001 | NA18960.hp1 NA18975.hp1 |
HG01168.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 81119580 | - | 13 | 0.9926 | 0.9841 | 0.9803 | 0.0123 | donor | a0001 | NA18960.hp1 NA18975.hp1 |
HG00140.hp1 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp2 others(34): Show |
AATK | chr17 | 81112295 | 81171221 |
| 81118442 | - | 14 | 0.9542 | 0.9477 | 0.9438 | 0.0104 | donor | a0001 | HG02723.hp2 HG03540.hp2 |
NA18949.hp1 | AATK | chr17 | 81112295 | 81171221 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr17:81144773
|
c.56-10272A>G | Obesity-related traits0.04 | a0001a0002a0003a0004a0005others(18): Show | a0001c0001a0001c0004a0001c0011a0002c0002a0002c0032others(33): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0016a0001c0004t0002a0001c0011t0001others(40): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0119others(135): Show | HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 others(149): Show |
Novel genetic loci identified for the pathophysiol others(52): Show |
815 Hispanic children from 263 families/ | AATK | AATK | rs7220048-G | - | MODIFIER | chr17 | T | C |
|
chr17:81163152
|
c.55+2786G>T | Systolic blood pressure | a0001a0002a0003a0004a0005others(7): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(16): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002a0001c0004t0006a0001c0040t0001others(20): Show | a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098a0001c0001t0001g0103others(84): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00544.hp2 HG00558.hp1 others(88): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 422,000 European ancestry individual others(2): Show |
AATK | rs2859612-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(12): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
282,558 European ancestry individuals (MTAG effect others(81): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81116648
|
c.*1754G>T | Lifetime major depressive disorder (MTAG)others(11): Show | a0001a0002a0003a0004a0005others(27): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0066others(57): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0016others(72): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(271): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 others(287): Show |
Phenotype integration improves power and preserves others(75): Show |
262,199 European ancestry individuals (MTAG effect others(106): Show |
AATK, BAIAP2 | rs6565535-? | - | MODIFIER | chr17 | C | A | |
|
chr17:81138800
|
c.56-4301_56-4300dupTG | Adipsin levels0.256 | a0001a0002a0003a0004a0005others(28): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0060others(63): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005a0001c0001t0009a0001c0001t0013others(84): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(323): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(344): Show |
Genome-wide analyses of multiple obesity-related c others(64): Show |
1,510 Sub-Saharan African ancestry men/724 African others(13): Show |
AATK | rs201442880-A | - | MODIFIER | chr17 | C | CCA | |
|
chr17:81113236
|
c.*5166G>A | Body size at age 100.0111158 | a0001a0003a0006a0016a0022others(2): Show | a0001c0001a0001c0011a0001c0040a0003c0003a0003c0007others(10): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0013a0001c0001t0022a0001c0011t0001others(14): Show | a0001c0001t0001g0030a0001c0001t0001g0076a0001c0001t0001g0098a0001c0001t0001g0149a0001c0001t0001g0167others(48): Show | HG00621.hp2 HG00673.hp2 HG00738.hp1 HG01071.hp1 HG01099.hp1 others(51): Show |
Use of genetic variation to separate the effects o others(80): Show |
453,169 European ancestry individuals/ | BAIAP2 | AATK, BAIAP2 | rs7503580-C | - | MODIFIER | chr17 | C | T |
|
chr17:81123969
|
c.963-626A>C | Neuroticism0.01609482 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
523,783 European ancestry individuals/59,206 Europ others(24): Show |
NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81123969
|
c.963-626A>C | Depressive symptoms0.010244516 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
1,067,913 European ancestry individuals/228,033 Eu others(27): Show |
NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81123969
|
c.963-626A>C | Life satisfaction0.013149287 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0066a0002c0002a0003c0003others(26): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002a0001c0004t0006a0001c0066t0001others(30): Show | a0001c0001t0001g0103a0001c0001t0001g0107a0001c0001t0002g0234a0001c0004t0002g0039a0001c0004t0002g0040others(79): Show | HG00280.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00639.hp1 others(81): Show |
Multivariate genome-wide analyses of the well-bein others(11): Show |
80,852 European ancestry individuals/ | NR | AATK | rs66530963-G | - | MODIFIER | chr17 | T | G |
|
chr17:81158174
|
c.55+7764C>T | Intestinal permeability measurement0.1 | a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0011a0002c0002a0002c0073others(22): Show | a0001c0001t0001a0001c0004t0002a0001c0011t0001a0002c0002t0001a0002c0002t0007others(25): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0119a0001c0001t0001g0120others(85): Show | HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(94): Show |
Analysis of Genetic Association of Intestinal Perm others(76): Show |
1,075 European ancestry first-degree relatives of others(28): Show |
AATK | AATK | rs11650927-A | - | MODIFIER | chr17 | G | A |
|
chr17:81151316
|
c.55+14622G>C | Neutrophil count0.013225 | a0001a0002a0003a0004a0005others(15): Show | a0001c0001a0001c0004a0001c0011a0001c0040a0001c0060others(36): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(44): Show | a0001c0001t0001g0014a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093others(161): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(169): Show |
Trans-ethnic and Ancestry-Specific Blood-Cell Gene others(54): Show |
519,288 European ancestry individuals/ | NR | AATK | rs59549421-G | - | MODIFIER | chr17 | C | G |
|
chr17:81130962
|
c.334+99G>A | Height0.0067 | a0001a0002a0003a0006a0007others(10): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(19): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009a0001c0001t0013a0001c0001t0022others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014a0001c0001t0001g0019others(155): Show | HG00140.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 others(167): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AATK | rs8073182-T | - | MODIFIER | chr17 | C | T | |
|
chr17:81149196
|
c.56-14695C>A | Neutrophil count0.013491505 | a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(32): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(118): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969405-T | - | MODIFIER | chr17 | G | T |
|
chr17:81149196
|
c.56-14695C>A |
Neutrophil percentage of white cells0.01 others(7): Show |
a0001a0002a0003a0004a0005others(11): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(32): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(118): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969405-T | - | MODIFIER | chr17 | G | T |
|
chr17:81149335
|
c.56-14834G>A |
Lymphocyte percentage of white cells0.01 others(7): Show |
a0001a0002a0003a0004a0005others(13): Show | a0001c0001a0001c0004a0001c0040a0001c0060a0002c0002others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001a0001c0004t0002a0001c0004t0006others(38): Show | a0001c0001t0001g0030a0001c0001t0001g0034a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0098others(127): Show | HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00438.hp2 HG00544.hp2 others(134): Show |
The Polygenic and Monogenic Basis of Blood Traits others(13): Show |
408,112 British individuals/ | AATK | AATK | rs4969407-T | - | MODIFIER | chr17 | C | T |