| geneid | 7681 |
|---|---|
| ensemblid | ENSG00000179455.10 |
| hgncid | 7114 |
| symbol | MKRN3 |
| name | makorin ring finger protein 3 |
| refseq_nuc | NM_005664.4 |
| refseq_prot | NP_005655.1 |
| ensembl_nuc | ENST00000314520.6 |
| ensembl_prot | ENSP00000313881.3 |
| mane_status | MANE Select |
| chr | chr15 |
| start | 23565674 |
| end | 23568044 |
| strand | + |
| ver | v1.2 |
| region | chr15:23565674-23568044 |
| region5000 | chr15:23560674-23573044 |
| regionname0 | MKRN3_chr15_23565674_23568044 |
| regionname5000 | MKRN3_chr15_23560674_23573044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:23565696
|
C | T | 0.0024 | 5_prime_UTR_premature_start_codon_gain_variant | LOW | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 420 | 0 | MKRN3 | ENSG00000179455.10 | transcript | ENST00000314520.6 | protein_coding | 1/1 | c.-87C>T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MKRN3 | 1/1 | a0001 | 507 | 415 | 87 | 76 | 196 | 14 | 40 | subcellular location copy fasta | chr15 | 23560674 | 23573044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MKRN3 | 1/0 | c0001 | 1524 | 321 | 69 | 61 | 156 | 7 | 27 | copy fasta | chr15 | 23560674 | 23573044 |
| genename | grch38/chm13v2 | thapid | tlen | total | AFR | AMR | EAS | EUR | SAS | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MKRN3 | 0/0 | t0003 | 848 | 1 | 0 | 0 | 1 | 0 | 0 | copy fasta | chr15 | 23560674 | 23573044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MKRN3 | 1/0 | a0001c0001 | 321 | 69 | 61 | 156 | 7 | 27 | 1524 | copy fasta | chr15 | 23560674 | 23573044 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MKRN3 | 0/0 | a0001c0001t0003 | 1 | 0 | 0 | 1 | 0 | 0 | 2371 | copy fasta | chr15 | 23560674 | 23573044 |
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 |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 23565696:splice 23565696:variant goto | c.-87C>T | 2497936 | Conflicting_classifications_of_pathogenicity | MKRN3:7681 | SO:0001623 5_prime_UTR_variant |
MedGen:C3661900 | + | 1 | 1 | 1 | 1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | NA18978.hp1 | LOW | chr15 | C | T | TogoVar |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
chr15:23572574
|
c.*5268G>A | IgG glycosylation0.2021 | a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0004c0010t0001 | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0004c0010t0001g0000 | HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00597.hp2 others(102): Show |
Loci associated with N-glycosylation of human immu others(81): Show |
2,247 European ancestry individuals/ | NR | MKRN3 | rs2900-G | + | MODIFIER | chr15 | G | A |
|
chr15:23569519
|
c.*2213C>T |
Pre-treatment viral load in HIV-1 infection others(7): Show |
a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
Single nucleotide polymorphisms in HLA alleles are others(105): Show |
1,398 European ancestry individuals, 572 Black ind others(82): Show |
MKRN3 | MKRN3 | rs6576462-C | + | MODIFIER | chr15 | C | T |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 23561299:splice 23561299:variant goto | MKRN3upstream_gene_variantc.-4483_-4481d others(10): Show |
MKRN3 Brain_Cortex 4.151 -0.172 | 6101212 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0003t0001others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0001c0003t0001g0000others(7): Show | HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 others(303): Show |
0.569 | 173 | 231 | 10 | chr15_23561299_CAGA_C_b38 | + | MODIFIER | chr15 | CAGA | C | TogoVar |
| 23569519:splice 23569519:variant goto | MKRN3downstream_gene_variantc.*2213C>T others(3): Show |
MKRN3 Thyroid 4.209 0.703 | 6101212 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
0.972 | 37 | 38 | 10 | chr15_23569519_C_T_b38 | + | MODIFIER | chr15 | C | T | TogoVar |
| 23570445:splice 23570445:variant goto | MKRN3downstream_gene_variantc.*3139A>G others(3): Show |
MKRN3 Thyroid 4.209 0.703 | 6101212 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
0.972 | 37 | 38 | 10 | chr15_23570445_A_G_b38 | + | MODIFIER | chr15 | A | G | TogoVar |
| 23571038:splice 23571038:variant goto | MKRN3downstream_gene_variantc.*3732C>T others(3): Show |
MKRN3 Thyroid 3.803 0.664 | 6101212 | a0001a0002a0003a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0006a0001c0007a0001c0011others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003a0001c0002t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000a0001c0002t0001g0000a0001c0006t0001g0000others(7): Show | HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 others(384): Show |
0.971 | 38 | 39 | 10 | chr15_23571038_C_T_b38 | + | MODIFIER | chr15 | C | T | TogoVar |