| geneid | 55299 |
|---|---|
| ensemblid | ENSG00000113460.13 |
| hgncid | 24170 |
| symbol | BRIX1 |
| name | biogenesis of ribosomes BRX1 |
| refseq_nuc | NM_018321.4 |
| refseq_prot | NP_060791.3 |
| ensembl_nuc | ENST00000336767.6 |
| ensembl_prot | ENSP00000338862.5 |
| mane_status | MANE Select |
| chr | chr5 |
| start | 34915711 |
| end | 34925996 |
| strand | + |
| ver | v1.2 |
| region | chr5:34915711-34925996 |
| region5000 | chr5:34910711-34930996 |
| regionname0 | BRIX1_chr5_34915711_34925996 |
| regionname5000 | BRIX1_chr5_34910711_34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr5:34917007
|
G | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(113): Show | 329 | 440 | 0.7477 | 0 | BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 1/9 | c.159+1110G>A | ||||||
|
chr5:34920480
|
G | A | intron_variant | MODIFIER | HG01884.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093a0001c0001t0001g0107 | 2 | 440 | 0.0046 | 0 | BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 3/9 | c.315+597G>A | ||||||
|
chr5:34925207
|
C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp1 HG01070.hp1 HG01081.hp1 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0008others(26): Show | 80 | 440 | 0.1818 | 1 | BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 9/9 | c.793-3dupT | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 1/1 | a0001 | 353 | 436 | 94 | 82 | 196 | 18 | 44 | subcellular location copy fasta | chr5 | 34910711 | 34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 1/1 | c0001 | 1062 | 419 | 93 | 78 | 190 | 17 | 39 | copy fasta | chr5 | 34910711 | 34930996 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 1/1 | t0001 | 530 | 437 | 93 | 82 | 198 | 18 | 44 | copy fasta | chr5 | 34910711 | 34930996 |
| genename | grch38/chm13v2 | ghapid | total | AFR | AMR | EAS | EUR | SAS | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 0/0 | g0093 | 1 | 1 | 0 | 0 | 0 | 0 | chr5 | 34910711 | 34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 1/1 | a0001c0001 | 419 | 93 | 78 | 190 | 17 | 39 | 1062 | copy fasta | chr5 | 34910711 | 34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 1/1 | a0001c0001t0001 | 416 | 92 | 78 | 188 | 17 | 39 | 1591 | copy fasta | chr5 | 34910711 | 34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| BRIX1 | 0/0 | a0001c0001t0001g0093 | 1 | 1 | 0 | 0 | 0 | 0 | chr5 | 34910711 | 34930996 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 34915897 | + | 1 | -0.9506 | -0.9506 | -0.9506 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34918364 | + | 2 | 0.5728 | 0.5728 | 0.5728 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34918475 | + | 2 | -0.8069 | -0.8069 | -0.8069 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34919840 | + | 3 | 0.9931 | 0.9931 | 0.9931 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34919883 | + | 3 | -0.9945 | -0.9945 | -0.9945 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922217 | + | 4 | 0.9975 | 0.9975 | 0.9975 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922287 | + | 4 | -0.9980 | -0.9980 | -0.9980 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922539 | + | 5 | 0.9834 | 0.9834 | 0.9834 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922588 | + | 5 | -0.9699 | -0.9698 | -0.9699 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922695 | + | 6 | 0.9925 | 0.9925 | 0.9925 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34922768 | + | 6 | -0.9957 | -0.9957 | -0.9957 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34923001 | + | 7 | 0.9748 | 0.9748 | 0.9748 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34923051 | + | 7 | -0.9808 | -0.9808 | -0.9808 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34923133 | + | 8 | 0.9983 | 0.9982 | 0.9983 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34923234 | + | 8 | -0.9991 | -0.9991 | -0.9991 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34924847 | + | 9 | 0.9970 | 0.9970 | 0.9970 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34924975 | + | 9 | -0.9939 | -0.9939 | -0.9939 | 0.0000 | acceptor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 34925226 | + | 10 | 0.9985 | 0.9985 | 0.9985 | 0.0000 | donor | a0001c0001t0001g0093 | HG03471.hp1 | HG03471.hp1 | BRIX1 | chr5 | 34910711 | 34930996 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 34928358:splice 34928358:variant goto | BRIX1downstream_gene_variantc.*2863A>C others(3): Show |
TTC23L Skin_Not_Sun_Exposed_Suprapubic 3.862 -0.279 | 12215 | a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0025others(10): Show | HG01081.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01928.hp1 others(36): Show |
0.065 | 77 | 84 | 10 | chr5_34928358_A_C_b38 | + | MODIFIER | chr5 | A | C | TogoVar |
| 34928358:splice 34928358:variant goto | BRIX1downstream_gene_variantc.*2863A>C others(3): Show |
TTC23L Skin_Sun_Exposed_Lower_leg 6.960 -0.356 | 12215 | a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0021a0001c0001t0001g0025others(10): Show | HG01081.hp2 HG01346.hp1 HG01361.hp2 HG01884.hp2 HG01928.hp1 others(36): Show |
0.062 | 86 | 93 | 10 | chr5_34928358_A_C_b38 | + | MODIFIER | chr5 | A | C | TogoVar |
| 34926986:splice 34926986:variant goto | BRIX1downstream_gene_variantc.*1491C>T others(3): Show |
AMACR Colon_Sigmoid 4.394 -0.346 | 356113 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0005a0002c0003a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0005t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(108): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(316): Show |
0.945 | 42 | 46 | 10 | chr5_34926986_C_T_b38 | + | MODIFIER | chr5 | C | T | TogoVar |
| 34926705:splice 34926705:variant goto | BRIX1downstream_gene_variantc.*1210T>C others(3): Show |
C1QTNF3 Heart_Atrial_Appendage 4.145 -0.425 | 356113 | a0001a0002a0003 | a0001c0001a0001c0002a0001c0005a0002c0003a0003c0006 | a0001c0001t0001a0001c0001t0003a0001c0002t0001a0001c0005t0001a0002c0003t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(108): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(317): Show |
0.936 | 54 | 59 | 10 | chr5_34926705_T_C_b38 | + | MODIFIER | chr5 | T | C | TogoVar |