| geneid | 22848 |
|---|---|
| ensemblid | ENSG00000115977.21 |
| hgncid | 19679 |
| symbol | AAK1 |
| name | AP2 associated kinase 1 |
| refseq_nuc | NM_014911.5 |
| refseq_prot | NP_055726.4 |
| ensembl_nuc | ENST00000409085.9 |
| ensembl_prot | ENSP00000386456.3 |
| mane_status | MANE Select |
| chr | chr2 |
| start | 69457997 |
| end | 69643739 |
| strand | - |
| ver | v1.2 |
| region | chr2:69457997-69643739 |
| region5000 | chr2:69452997-69648739 |
| regionname0 | AAK1_chr2_69457997_69643739 |
| regionname5000 | AAK1_chr2_69452997_69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514621
|
CTGT | C | 0.3456 | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(100): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0005a0002c0016others(7): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(52): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(100): Show | 103 | 298 | -3 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1623_1625delACA | p.Gln542del | 2024/21157 | 1623/2886 | 541/961 | ||
|
chr2:69514722
|
T | G | 0.9966 | missense_variant | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(294): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0004others(22): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(167): Show | a0001c0001t0002g0114a0001c0001t0002g0120a0001c0001t0002g0125others(294): Show | 297 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1525A>C | p.Lys509Gln | 1924/21157 | 1525/2886 | 509/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69514477
|
C | T | 0.2953 | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(85): Show |
a0002a0003a0006others(1): Show | a0002c0002a0002c0024a0003c0020others(2): Show | a0002c0002t0001a0002c0002t0003a0002c0002t0005others(40): Show | a0002c0002t0001g0019a0002c0002t0001g0025a0002c0002t0001g0028others(85): Show | 88 | 298 | 0 | AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 13/22 | c.1770G>A | p.Glu590Glu | 2169/21157 | 1770/2886 | 590/961 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | a0002 | 960 | 96 | 16 | 20 | 49 | 3 | 8 | subcellular location copy fasta | chr2 | 69452997 | 69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | c0002 | 2883 | 83 | 5 | 20 | 48 | 3 | 7 | copy fasta | chr2 | 69452997 | 69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AAK1 | 0/0 | a0002c0002 | 83 | 5 | 20 | 48 | 3 | 7 | 2883 | copy fasta | chr2 | 69452997 | 69648739 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 69643575 | - | 1 | -0.8177 | -0.7923 | -0.7897 | 0.0280 | acceptor | a0002c0002 | HG02809.hp1 | NA18992.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69642878 | - | 2 | -0.9943 | -0.9932 | -0.9911 | 0.0032 | acceptor | a0002c0002 | HG02145.hp1 NA18968.hp2 |
HG01258.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69643274 | - | 2 | 0.9719 | 0.9642 | 0.9607 | 0.0112 | donor | a0002c0002 | HG02895.hp1 | HG02738.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69556860 | - | 3 | -0.9991 | -0.9990 | -0.9987 | 0.0004 | acceptor | a0002c0002 | HG00438.hp1 | HG01099.hp1 HG01258.hp2 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69556978 | - | 3 | 0.9940 | 0.9933 | 0.9928 | 0.0012 | donor | a0002c0002 | HG01358.hp1 | HG02738.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544436 | - | 4 | -0.9988 | -0.9988 | -0.9987 | 0.0000 | acceptor | a0002c0002 | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(72): Show |
HG01099.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69544544 | - | 4 | 0.9972 | 0.9972 | 0.9972 | 0.0000 | donor | a0002c0002 | HG02602.hp2 NA18943.hp2 NA18970.hp1 NA19006.hp1 NA19007.hp1 others(1): Show |
HG01099.hp1 HG01099.hp2 HG01258.hp2 HG01358.hp1 HG02738.hp2 others(2): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69542523 | - | 5 | -0.9994 | -0.9993 | -0.9993 | 0.0000 | acceptor | a0002c0002 | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(64): Show |
NA18943.hp2 NA19006.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69542665 | - | 5 | 0.9916 | 0.9915 | 0.9910 | 0.0006 | donor | a0002c0002 | NA18943.hp2 NA19006.hp1 |
NA18953.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69532041 | - | 6 | -0.9974 | -0.9973 | -0.9973 | 0.0001 | acceptor | a0002c0002 | HG01099.hp1 HG02895.hp1 |
HG00099.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp2 others(68): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69532162 | - | 6 | 0.9880 | 0.9880 | 0.9876 | 0.0005 | donor | a0002c0002 | NA19079.hp2 | HG01099.hp1 HG02895.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530625 | - | 7 | -0.9933 | -0.9931 | -0.9929 | 0.0004 | acceptor | a0002c0002 | HG02895.hp1 | HG01934.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530706 | - | 7 | 0.9886 | 0.9884 | 0.9879 | 0.0007 | donor | a0002c0002 | HG03139.hp2 | NA18969.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69530008 | - | 8 | -0.9985 | -0.9983 | -0.9983 | 0.0002 | acceptor | a0002c0002 | NA19060.hp1 | HG01934.hp1 NA18969.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69530140 | - | 8 | 0.9957 | 0.9957 | 0.9953 | 0.0004 | donor | a0002c0002 | NA18945.hp1 | NA19060.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69527216 | - | 9 | -0.9951 | -0.9947 | -0.9909 | 0.0042 | acceptor | a0002c0002 | HG02895.hp1 | HG01934.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69527319 | - | 9 | 0.9936 | 0.9935 | 0.9870 | 0.0066 | donor | a0002c0002 | HG01358.hp1 | HG01934.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69525033 | - | 10 | -0.9830 | -0.9818 | -0.9799 | 0.0031 | acceptor | a0002c0002 | HG01358.hp1 | HG01099.hp1 HG02895.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69525112 | - | 10 | 0.9768 | 0.9744 | 0.9714 | 0.0054 | donor | a0002c0002 | HG01358.hp1 | HG01934.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69520834 | - | 11 | -0.9933 | -0.9930 | -0.9928 | 0.0005 | acceptor | a0002c0002 | HG01099.hp1 HG02895.hp1 |
HG01943.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69520988 | - | 11 | 0.9948 | 0.9948 | 0.9946 | 0.0002 | donor | a0002c0002 | HG01255.hp2 | HG01943.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69518954 | - | 12 | -0.9905 | -0.9897 | -0.9894 | 0.0011 | acceptor | a0002c0002 | HG01099.hp1 HG02895.hp1 |
HG03669.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69519240 | - | 12 | 0.9849 | 0.9839 | 0.9830 | 0.0019 | donor | a0002c0002 | HG03669.hp1 | NA19078.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69514471 | - | 13 | -0.9916 | -0.9913 | -0.9910 | 0.0006 | acceptor | a0002c0002 | HG00738.hp1 | HG01943.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69514749 | - | 13 | 0.9877 | 0.9876 | 0.9872 | 0.0005 | donor | a0002c0002 | HG02717.hp1 | HG02004.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69509231 | - | 14 | -0.9854 | -0.9851 | -0.9852 | 0.0003 | acceptor | a0002c0002 | HG03831.hp1 | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69509460 | - | 14 | 0.9341 | 0.9340 | 0.9340 | 0.0001 | donor | a0002c0002 | HG03831.hp1 | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(77): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69507421 | - | 15 | -0.9994 | -0.9994 | -0.9994 | 0.0000 | acceptor | a0002c0002 | HG03831.hp1 | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(76): Show |
AAK1 | chr2 | 69452997 | 69648739 |
| 69507578 | - | 15 | 0.9565 | 0.9557 | 0.9543 | 0.0022 | donor | a0002c0002 | NA19010.hp2 | HG03831.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69505569 | - | 16 | -0.9790 | -0.9751 | -0.9750 | 0.0040 | acceptor | a0002c0002 | NA18953.hp1 | HG01099.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69505673 | - | 16 | 0.9859 | 0.9830 | 0.9827 | 0.0032 | donor | a0002c0002 | NA19010.hp2 | HG03139.hp2 | AAK1 | chr2 | 69452997 | 69648739 |
| 69495985 | - | 17 | -0.7441 | -0.7275 | -0.7051 | 0.0391 | acceptor | a0002c0002 | HG01258.hp2 | NA18967.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69496080 | - | 17 | 0.8476 | 0.8178 | 0.7796 | 0.0681 | donor | a0002c0002 | HG02717.hp1 | HG03831.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69482711 | - | 18 | -0.4977 | -0.4547 | -0.4504 | 0.0473 | acceptor | a0002c0002 | NA18955.hp1 | HG01358.hp1 HG02738.hp2 NA19065.hp1 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69482812 | - | 18 | 0.4821 | 0.4745 | 0.4539 | 0.0282 | donor | a0002c0002 | HG01255.hp2 | NA18955.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69480860 | - | 19 | -0.8038 | -0.7936 | -0.7477 | 0.0562 | acceptor | a0002c0002 | NA18955.hp1 | HG02145.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69480961 | - | 19 | 0.7944 | 0.7894 | 0.7716 | 0.0228 | donor | a0002c0002 | NA18969.hp1 | HG02145.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69478951 | - | 20 | -0.9460 | -0.9433 | -0.9192 | 0.0268 | acceptor | a0002c0002 | HG01358.hp1 HG02738.hp2 NA19065.hp1 |
NA18955.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69479061 | - | 20 | 0.8864 | 0.8277 | 0.8276 | 0.0587 | donor | a0002c0002 | HG01358.hp1 HG02738.hp2 NA19065.hp1 |
NA18945.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 69476880 | - | 21 | -0.9395 | -0.9388 | -0.9122 | 0.0273 | acceptor | a0002c0002 | NA18969.hp1 | HG02717.hp1 HG03139.hp2 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69476990 | - | 21 | 0.7196 | 0.7131 | 0.7085 | 0.0111 | donor | a0002c0002 | NA18969.hp1 | HG02717.hp1 HG03139.hp2 |
AAK1 | chr2 | 69452997 | 69648739 |
| 69475963 | - | 22 | 0.3494 | 0.3127 | 0.3099 | 0.0395 | donor | a0002c0002 | HG01433.hp2 | HG03831.hp1 | AAK1 | chr2 | 69452997 | 69648739 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr2:69612501
|
c.163+30377A>G |
Serum thyroid-stimulating hormone levels others(4): Show |
a0001a0002a0003a0004a0006others(1): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(112): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(196): Show | HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 others(196): Show |
Genetic variants associated with serum thyroid sti others(98): Show |
4,501 European ancestry individuals, 351 African A others(20): Show |
AAK1 | AAK1 | rs6546537-C | - | MODIFIER | chr2 | T | C |
|
chr2:69592442
|
c.164-35464A>G | Height | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(17): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(130): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(221): Show | HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 others(221): Show |
Leveraging Polygenic Functional Enrichment to Impr others(15): Show |
approximately 458,000 European ancestry individual others(2): Show |
AAK1 | rs2311837-? | - | MODIFIER | chr2 | T | C | |
|
chr2:69640739
|
c.163+2139G>A | Height0.0076 | a0001a0002a0003a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(15): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007a0001c0001t0008a0001c0001t0011others(109): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(195): Show | HG00140.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 others(195): Show |
A saturated map of common genetic variants associa others(22): Show |
5,314,291 European ancestry, Hispanic or Latin Ame others(79): Show |
AAK1 | rs3899666-C | - | MODIFIER | chr2 | C | T | |
|
chr2:69534588
|
c.535-2426G>A | Estradiol levels0.136 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0144 | HG01258.hp2 |
Genome-wide analyses identify 25 infertility loci others(80): Show |
39,165 European ancestry males/ | AAK1 | rs76866838-T | - | MODIFIER | chr2 | C | T | |
|
chr2:69492724
|
c.2365+3261C>T | Dental caries5.849 | a0001a0002a0003a0004a0005others(3): Show | a0001c0001a0001c0003a0001c0004a0001c0006a0001c0007others(18): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0011a0001c0001t0013a0001c0001t0014others(125): Show | a0001c0001t0004g0206a0001c0001t0004g0216a0001c0001t0004g0221a0001c0001t0004g0233a0001c0001t0004g0254others(219): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00323.hp2 others(219): Show |
Genome-wide association meta-analysis identifies t others(44): Show |
30,859 Japanese ancestry cases, 14,666 Japanese an others(155): Show |
AAK1 | rs11681089-G | - | MODIFIER | chr2 | G | A |