| geneid | 8516 |
|---|---|
| ensemblid | ENSG00000077943.8 |
| hgncid | 6144 |
| symbol | ITGA8 |
| name | integrin subunit alpha 8 |
| refseq_nuc | NM_003638.3 |
| refseq_prot | NP_003629.2 |
| ensembl_nuc | ENST00000378076.4 |
| ensembl_prot | ENSP00000367316.3 |
| mane_status | MANE Select |
| chr | chr10 |
| start | 15513954 |
| end | 15719922 |
| strand | - |
| ver | v1.2 |
| region | chr10:15513954-15719922 |
| region5000 | chr10:15508954-15724922 |
| regionname0 | ITGA8_chr10_15513954_15719922 |
| regionname5000 | ITGA8_chr10_15508954_15724922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:15531051
|
A | G | 0.8727 | missense_variant others(1): Show |
MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0007a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058others(189): Show | 192 | 220 | 0 | ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 28/30 | c.2981T>C | p.Val994Ala | 3132/6547 | 2981/3192 | 994/1063 | ||
|
chr10:15677622
|
C | G | 0.0682 | missense_variant | MODERATE | HG01109.hp1 HG02145.hp1 HG02145.hp2 others(12): Show |
a0004a0008a0012others(2): Show | a0004c0004a0004c0013a0004c0024others(5): Show | a0004c0004t0002a0004c0004t0009a0004c0004t0011others(10): Show | a0004c0004t0002g0047a0004c0004t0002g0051a0004c0004t0009g0043others(12): Show | 15 | 220 | 0 | ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 6/30 | c.646G>C | p.Val216Leu | 797/6547 | 646/3192 | 216/1063 | ||
|
chr10:15719771
|
TCTCC | T | 0.1546 | start_retained_variant | MODIFIER | HG00099.hp1 HG01074.hp2 HG01099.hp1 others(31): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0012others(12): Show | a0001c0001t0006g0001a0001c0001t0006g0024a0001c0001t0006g0027others(31): Show | 34 | 220 | -4 | ITGA8 | ENSG00000077943.8 | transcript | ENST00000378076.4 | protein_coding | 1/30 | c.-4_-1delGGAG |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ITGA8 | 0/0 | a0004 | 1063 | 10 | 9 | 1 | 0 | 0 | 0 | subcellular location copy fasta | chr10 | 15508954 | 15724922 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 15719563 | - | 1 | -0.9798 | -0.9635 | -0.9534 | 0.0264 | acceptor | a0004 | HG03579.hp2 | HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15718766 | - | 2 | -0.9899 | -0.9890 | -0.9878 | 0.0021 | acceptor | a0004 | HG03579.hp2 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15718899 | - | 2 | 0.9763 | 0.9703 | 0.9695 | 0.0068 | donor | a0004 | HG03579.hp2 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15687938 | - | 3 | -0.9987 | -0.9987 | -0.9984 | 0.0003 | acceptor | a0004 | HG01109.hp1 HG02280.hp1 HG02630.hp1 HG02630.hp2 HG02886.hp2 others(2): Show |
HG03579.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15688038 | - | 3 | 0.9980 | 0.9975 | 0.9974 | 0.0006 | donor | a0004 | HG02145.hp2 | HG03579.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15684004 | - | 4 | -0.9983 | -0.9979 | -0.9978 | 0.0005 | acceptor | a0004 | HG02451.hp2 | HG02630.hp1 HG02630.hp2 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15684127 | - | 4 | 0.9970 | 0.9964 | 0.9961 | 0.0009 | donor | a0004 | HG02451.hp2 | HG03579.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15678722 | - | 5 | -0.9724 | -0.9720 | -0.9711 | 0.0014 | acceptor | a0004 | HG01109.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15678783 | - | 5 | 0.9768 | 0.9764 | 0.9752 | 0.0017 | donor | a0004 | HG02145.hp2 NA20129.hp1 |
HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15677592 | - | 6 | -0.9842 | -0.9838 | -0.9823 | 0.0019 | acceptor | a0004 | HG03579.hp2 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15677637 | - | 6 | 0.9720 | 0.9711 | 0.9635 | 0.0085 | donor | a0004 | HG02630.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15672624 | - | 7 | -0.9963 | -0.9958 | -0.9952 | 0.0011 | acceptor | a0004 | HG03579.hp2 | HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15672749 | - | 7 | 0.9935 | 0.9912 | 0.9888 | 0.0047 | donor | a0004 | HG03579.hp2 | HG02630.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15671603 | - | 8 | -0.8833 | -0.8473 | -0.8197 | 0.0636 | acceptor | a0004 | HG02886.hp2 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15671647 | - | 8 | 0.9495 | 0.9244 | 0.8947 | 0.0548 | donor | a0004 | HG02886.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15660879 | - | 9 | -0.7913 | -0.7776 | -0.7458 | 0.0455 | acceptor | a0004 | NA20129.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15660922 | - | 9 | 0.7768 | 0.7654 | 0.6977 | 0.0791 | donor | a0004 | HG02280.hp1 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15658999 | - | 10 | -0.9810 | -0.9795 | -0.9764 | 0.0045 | acceptor | a0004 | HG03579.hp2 | HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15659055 | - | 10 | 0.9936 | 0.9927 | 0.9882 | 0.0054 | donor | a0004 | HG02630.hp2 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15655354 | - | 11 | -0.9833 | -0.9819 | -0.9634 | 0.0198 | acceptor | a0004 | HG02280.hp1 NA20129.hp1 |
HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15655406 | - | 11 | 0.9915 | 0.9891 | 0.9860 | 0.0055 | donor | a0004 | HG02630.hp1 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15646846 | - | 12 | -0.9840 | -0.9826 | -0.9801 | 0.0040 | acceptor | a0004 | HG03579.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15647051 | - | 12 | 0.9862 | 0.9813 | 0.9782 | 0.0081 | donor | a0004 | HG02145.hp2 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15644030 | - | 13 | -0.9898 | -0.9887 | -0.9860 | 0.0037 | acceptor | a0004 | HG03579.hp2 | HG02145.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15644221 | - | 13 | 0.9929 | 0.9906 | 0.9875 | 0.0055 | donor | a0004 | HG02630.hp2 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15616514 | - | 14 | -0.9934 | -0.9932 | -0.9918 | 0.0016 | acceptor | a0004 | HG02145.hp2 HG02280.hp1 NA20129.hp1 |
HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15616559 | - | 14 | 0.9918 | 0.9915 | 0.9913 | 0.0006 | donor | a0004 | HG02630.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15613660 | - | 15 | -0.9837 | -0.9801 | -0.9783 | 0.0054 | acceptor | a0004 | HG02145.hp2 NA20129.hp1 |
HG03579.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15613767 | - | 15 | 0.9866 | 0.9820 | 0.9799 | 0.0067 | donor | a0004 | HG02280.hp1 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15608235 | - | 16 | -0.8925 | -0.8828 | -0.8614 | 0.0312 | acceptor | a0004 | HG02145.hp2 HG02280.hp1 NA20129.hp1 |
HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15608290 | - | 16 | 0.6749 | 0.6535 | 0.5655 | 0.1094 | donor | a0004 | HG02145.hp2 HG02280.hp1 NA20129.hp1 |
HG02630.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15607677 | - | 17 | -0.9985 | -0.9984 | -0.9983 | 0.0002 | acceptor | a0004 | HG02630.hp1 HG02886.hp2 |
HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15607831 | - | 17 | 0.9954 | 0.9949 | 0.9948 | 0.0007 | donor | a0004 | HG02630.hp2 | HG02630.hp1 HG03471.hp2 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15606285 | - | 18 | -0.9972 | -0.9971 | -0.9968 | 0.0004 | acceptor | a0004 | HG02145.hp2 HG02280.hp1 HG03471.hp2 NA20129.hp1 |
HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15606422 | - | 18 | 0.9931 | 0.9930 | 0.9926 | 0.0005 | donor | a0004 | HG03471.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15605724 | - | 19 | -0.8727 | -0.8666 | -0.8325 | 0.0402 | acceptor | a0004 | HG03579.hp2 | HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15605791 | - | 19 | 0.9093 | 0.9007 | 0.8665 | 0.0428 | donor | a0004 | HG03579.hp2 | HG02630.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15604208 | - | 20 | -0.9747 | -0.9604 | -0.9501 | 0.0246 | acceptor | a0004 | HG02886.hp2 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15604355 | - | 20 | 0.9446 | 0.9381 | 0.8968 | 0.0478 | donor | a0004 | HG02630.hp2 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15597207 | - | 21 | -0.5481 | -0.5366 | -0.5173 | 0.0308 | acceptor | a0004 | NA20129.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15597299 | - | 21 | 0.5975 | 0.5931 | 0.5801 | 0.0175 | donor | a0004 | HG02145.hp2 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15592225 | - | 22 | -0.5201 | -0.4503 | -0.3189 | 0.2012 | acceptor | a0004 | HG02630.hp1 | HG02451.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15592304 | - | 22 | 0.6187 | 0.5929 | 0.5603 | 0.0584 | donor | a0004 | HG02630.hp1 | HG02886.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15586584 | - | 23 | -0.9986 | -0.9972 | -0.9970 | 0.0015 | acceptor | a0004 | HG02451.hp2 | NA20129.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15586664 | - | 23 | 0.9982 | 0.9966 | 0.9965 | 0.0017 | donor | a0004 | HG02451.hp2 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15575489 | - | 24 | -0.9527 | -0.9365 | -0.9009 | 0.0519 | acceptor | a0004 | HG02280.hp1 | HG02145.hp2 HG02886.hp2 NA20129.hp1 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15575594 | - | 24 | 0.9493 | 0.9187 | 0.9006 | 0.0487 | donor | a0004 | HG01109.hp1 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15572211 | - | 25 | -0.9929 | -0.9910 | -0.9896 | 0.0034 | acceptor | a0004 | HG01109.hp1 | HG02280.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15572369 | - | 25 | 0.9775 | 0.9692 | 0.9588 | 0.0188 | donor | a0004 | HG02630.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15558074 | - | 26 | -0.9986 | -0.9985 | -0.9982 | 0.0003 | acceptor | a0004 | HG02886.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15558202 | - | 26 | 0.9973 | 0.9972 | 0.9970 | 0.0003 | donor | a0004 | HG02630.hp2 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15548455 | - | 27 | -0.6338 | -0.6216 | -0.5897 | 0.0441 | acceptor | a0004 | HG02630.hp1 | HG02280.hp1 NA20129.hp1 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15548568 | - | 27 | 0.5612 | 0.5156 | 0.4790 | 0.0823 | donor | a0004 | HG02886.hp2 | HG03579.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15531050 | - | 28 | -0.9979 | -0.9971 | -0.9964 | 0.0015 | acceptor | a0004 | HG03579.hp2 | HG03471.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15531151 | - | 28 | 0.9972 | 0.9960 | 0.9956 | 0.0016 | donor | a0004 | HG03471.hp2 | HG02630.hp2 | ITGA8 | chr10 | 15508954 | 15724922 |
| 15519290 | - | 29 | -0.9941 | -0.9934 | -0.9932 | 0.0009 | acceptor | a0004 | HG03579.hp2 | HG01109.hp1 HG02145.hp2 HG02630.hp2 HG03471.hp2 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15519412 | - | 29 | 0.9836 | 0.9828 | 0.9815 | 0.0021 | donor | a0004 | HG03579.hp2 | HG02280.hp1 HG02886.hp2 NA20129.hp1 |
ITGA8 | chr10 | 15508954 | 15724922 |
| 15517244 | - | 30 | 0.7575 | 0.7549 | 0.7485 | 0.0089 | donor | a0004 | HG02630.hp2 | HG01109.hp1 | ITGA8 | chr10 | 15508954 | 15724922 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr10:15519544
|
c.2983-132A>G | Parkinson's disease1.19 | a0001a0004 | a0001c0001a0001c0008a0004c0013 | a0001c0001t0002a0001c0001t0012a0001c0001t0034a0001c0001t0035a0001c0008t0010others(1): Show | a0001c0001t0002g0060a0001c0001t0002g0062a0001c0001t0002g0066a0001c0001t0002g0109a0001c0001t0002g0137others(13): Show | HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00741.hp1 HG00741.hp2 others(13): Show |
Genome-wide association study reveals genetic risk others(32): Show |
1,713 European ancestry cases, 3,978 European ance others(77): Show |
ITGA8 | ITGA8 | rs7077361-T | - | MODIFIER | chr10 | T | C |
|
chr10:15677622
|
c.646G>Cp.Val216Leu | Quantitative traits0.35 | a0004a0008a0012a0013a0014 | a0004c0004a0004c0013a0004c0024a0004c0025a0008c0012others(3): Show | a0004c0004t0002a0004c0004t0009a0004c0004t0011a0004c0004t0015a0004c0013t0014others(8): Show | a0004c0004t0002g0047a0004c0004t0002g0051a0004c0004t0009g0043a0004c0004t0009g0049a0004c0004t0011g0053others(10): Show | HG01109.hp1 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp2 others(10): Show |
Genome-wide association studies in an isolated fou others(50): Show |
2,906 Kosraen individuals/ | ITGA8 | ITGA8 | rs7895372-G | - | MODERATE | chr10 | C | G |
|
chr10:15558672
|
c.2638-470G>T | Periodontitis (CDC/AAP)1.32 | a0001a0003a0004a0005a0007others(2): Show | a0001c0001a0001c0007a0001c0008a0001c0011a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0007others(34): Show | a0001c0001t0001g0108a0001c0001t0002g0060a0001c0001t0002g0062a0001c0001t0002g0066a0001c0001t0002g0075others(83): Show | HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00642.hp1 HG00642.hp2 others(83): Show |
Genome-wide association study of chronic periodont others(36): Show |
up to 3,915 European ancestry individuals/ | ITGA8 | ITGA8 | rs28643277-A | - | MODIFIER | chr10 | C | A |
|
chr10:15612888
|
c.1553+772A>G | Diisocyanate-induced asthma33.99 | a0001a0002a0003a0004a0005others(9): Show | a0001c0001a0001c0008a0001c0014a0001c0020a0002c0002others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(46): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0061others(163): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 others(163): Show |
Genome-Wide Association Study Identifies Novel Loc others(59): Show |
74 European ancestry cases, 824 European ancestry others(9): Show |
ITGA8, FAM171A1, C10orf97 | ITGA8 | rs4748185-A | - | MODIFIER | chr10 | T | C |
|
chr10:15568092
|
c.2637+4119T>C | Gut microbial network clusters (Brown (at 3 months) x Any Formula feeding (3 Months) interactionothers(60): Show | a0001a0002a0003a0004a0006others(9): Show | a0001c0001a0001c0007a0001c0008a0001c0011a0001c0014others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(53): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0058a0001c0001t0001g0059a0001c0001t0001g0061others(154): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 others(154): Show |
Gene-by-environment interactions modulate the infa others(38): Show |
693 European ancestry, South Asian ancestry, East others(231): Show |
ITGA8 | rs974733-A | - | MODIFIER | chr10 | A | G | |
|
chr10:15629439
|
c.1400-12880A>G | Volume of right cortico-amygdaloid transition areaothers(19): Show | a0001a0002a0004a0015 | a0001c0001a0002c0002a0004c0013a0015c0028 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0125a0001c0001t0001g0132others(47): Show | HG00140.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp2 others(47): Show |
Cross-ancestry and sex-stratified genome-wide asso others(52): Show |
16,899 European ancestry males, 2,397 East Asian a others(14): Show |
ITGA8 | rs12359169-C | - | MODIFIER | chr10 | T | C | |
|
chr10:15629439
|
c.1400-12880A>G | Volume of right cortico-amygdaloid transition areaothers(18): Show | a0001a0002a0004a0015 | a0001c0001a0002c0002a0004c0013a0015c0028 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0125a0001c0001t0001g0132others(47): Show | HG00140.hp1 HG01070.hp1 HG01070.hp2 HG01099.hp1 HG01109.hp2 others(47): Show |
Cross-ancestry and sex-stratified genome-wide asso others(52): Show |
16,899 European ancestry males/ | ITGA8 | rs12359169-C | - | MODIFIER | chr10 | T | C |