| geneid | 3563 |
|---|---|
| ensemblid | ENSG00000185291.12 |
| hgncid | 6012 |
| symbol | IL3RA |
| name | interleukin 3 receptor subunit alpha |
| refseq_nuc | NM_002183.4 |
| refseq_prot | NP_002174.1 |
| ensembl_nuc | ENST00000331035.10 |
| ensembl_prot | ENSP00000327890.4 |
| mane_status | MANE Select |
| chr | chrX |
| start | 1336785 |
| end | 1382689 |
| strand | + |
| ver | v1.2 |
| region | chrX:1336785-1382689 |
| region5000 | chrX:1331785-1387689 |
| regionname0 | IL3RA_chrX_1336785_1382689 |
| regionname5000 | IL3RA_chrX_1331785_1387689 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chrX:1352428
|
TC | T | 0.0087 | frameshift_variant | HIGH | NA18961.hp1 | a0012 | a0012c0007 | a0012c0007t0002 | a0012c0007t0002g0045 | 1 | 115 | -1 | IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 6/12 | c.541delC | p.His181fs | 721/1541 | 541/1137 | 181/378 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IL3RA | 0/0 | a0012 | 207 | 1 | 0 | 0 | 1 | 0 | 0 | subcellular location copy fasta | chrX | 1331785 | 1387689 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1336926 | + | 1 | -0.7223 | -0.7223 | -0.7223 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1341728 | + | 2 | 0.9821 | 0.9821 | 0.9821 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1341829 | + | 2 | -0.9963 | -0.9963 | -0.9963 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1345316 | + | 3 | 0.9951 | 0.9951 | 0.9951 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1345434 | + | 3 | -0.9974 | -0.9974 | -0.9974 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1348431 | + | 4 | 0.6343 | 0.6342 | 0.6343 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1348545 | + | 4 | -0.8445 | -0.8445 | -0.8445 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1352100 | + | 5 | 0.8403 | 0.8403 | 0.8403 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1352232 | + | 5 | -0.7001 | -0.7001 | -0.7001 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1352322 | + | 6 | 0.5630 | 0.5630 | 0.5630 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1352506 | + | 6 | -0.6171 | -0.6170 | -0.6171 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1356221 | + | 7 | 0.9630 | 0.9630 | 0.9630 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1356336 | + | 7 | -0.9602 | -0.9602 | -0.9602 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1358861 | + | 8 | 0.9874 | 0.9874 | 0.9874 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1358887 | + | 8 | -0.9556 | -0.9556 | -0.9556 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1365138 | + | 9 | 0.8342 | 0.8342 | 0.8342 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1365252 | + | 9 | -0.8702 | -0.8702 | -0.8702 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1378659 | + | 10 | 0.9866 | 0.9866 | 0.9866 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1378764 | + | 10 | -0.9942 | -0.9942 | -0.9942 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1381023 | + | 11 | 0.7952 | 0.7952 | 0.7952 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1381104 | + | 11 | -0.9001 | -0.9001 | -0.9001 | 0.0000 | acceptor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 1382391 | + | 12 | 0.6588 | 0.6588 | 0.6588 | 0.0000 | donor | a0012 | NA18961.hp1 | NA18961.hp1 | IL3RA | chrX | 1331785 | 1387689 |
| 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 |
|---|
| pos | genenamehgvs_chgvs_pannotation | tissueexpression gene-log10(pval)slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database)The -log10(nominal pvalue) in GTEx databaseSlope in GTEx database (positive value:alt allele has higher gene expression) |
ahapidchapidthapidghapid ahapid_countchapid_countthapid_countghapid_count
|
AHAPIDS ahapids
|
ACHAPIDS achapids
|
ACTHAPIDS acthapids
|
ACTGHAPIDS actghapids
|
haplotypeids haplotypeids
|
af allele frequency in GTEx database |
ms The number of samples with minor allele in GTEx database |
ma The number of minor allele count in GTEx database |
ver GTEx version |
vid Variant ID in GTEx database |
strand strand
|
impact | chr | ref | alt | external |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1354393:splice 1354393:variant goto | IL3RAintron_variantc.617-1828A>C | SLC25A6 Brain_Nucleus_accumbens_basal_ganglia 5.559 0.176 | 10142668 | a0001a0002a0005a0006a0007others(5): Show | a0001c0001a0001c0003a0001c0020a0002c0002a0002c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(21): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0026others(63): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 others(63): Show |
0.732 | 130 | 152 | 10 | chrX_1354393_A_C_b38 | + | MODIFIER | chrX | A | C | TogoVar |
| 1354354:splice 1354354:variant goto | IL3RAintron_variantc.616+1848G>A | IL3RA Brain_Nucleus_accumbens_basal_ganglia 5.595 -0.214 | 10142461 | a0001a0002a0005a0006a0007others(5): Show | a0001c0001a0001c0003a0001c0020a0002c0002a0002c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0028others(56): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 others(56): Show |
0.722 | 135 | 158 | 10 | chrX_1354354_G_A_b38 | + | MODIFIER | chrX | G | A | TogoVar |
| 1354354:splice 1354354:variant goto | IL3RAintron_variantc.616+1848G>A | SLC25A6 Brain_Nucleus_accumbens_basal_ganglia 5.652 0.175 | 10142461 | a0001a0002a0005a0006a0007others(5): Show | a0001c0001a0001c0003a0001c0020a0002c0002a0002c0015others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0028others(56): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 others(56): Show |
0.722 | 135 | 158 | 10 | chrX_1354354_G_A_b38 | + | MODIFIER | chrX | G | A | TogoVar |
| 1353326:splice 1353326:variant goto | IL3RAintron_variantc.616+827delC | IL3RA Brain_Nucleus_accumbens_basal_ganglia 5.932 -0.231 | 11152560 | a0001a0002a0004a0005a0006others(6): Show | a0001c0001a0001c0003a0001c0020a0002c0002a0002c0015others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0028others(55): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 others(55): Show |
0.737 | 136 | 150 | 10 | chrX_1353326_AC_A_b38 | + | MODIFIER | chrX | AC | A | TogoVar |
| 1353326:splice 1353326:variant goto | IL3RAintron_variantc.616+827delC | SLC25A6 Brain_Nucleus_accumbens_basal_ganglia 5.476 0.181 | 11152560 | a0001a0002a0004a0005a0006others(6): Show | a0001c0001a0001c0003a0001c0020a0002c0002a0002c0015others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0015a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0028others(55): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00558.hp1 others(55): Show |
0.737 | 136 | 150 | 10 | chrX_1353326_AC_A_b38 | + | MODIFIER | chrX | AC | A | TogoVar |