| geneid | 378948 |
|---|---|
| ensemblid | ENSG00000242875.7 |
| hgncid | 23914 |
| symbol | RBMY1B |
| name | RNA binding motif protein Y-linked family 1 member B |
| refseq_nuc | NM_001006121.4 |
| refseq_prot | NP_001006121.1 |
| ensembl_nuc | ENST00000383020.7 |
| ensembl_prot | ENSP00000372484.3 |
| mane_status | MANE Select |
| chr | chrY |
| start | 21511338 |
| end | 21525786 |
| strand | + |
| ver | v1.2 |
| region | chrY:21511338-21525786 |
| region5000 | chrY:21506338-21530786 |
| regionname0 | RBMY1B_chrY_21511338_21525786 |
| regionname5000 | RBMY1B_chrY_21506338_21530786 |
| ahapid | 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
|
alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 496 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0002 | 0/0 | 496 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0003 | 0/0 | 496 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| chapid | 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
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| c0002 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| c0003 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| thapid | grch38chm13v2 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
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 431 | 2 | 0 | 0 | 2 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| t0002 | 0/0 | 431 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| ghapid | 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
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| achapid | 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
|
clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0002c0003 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0003c0001 | 0/0 | 1491 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001 | 0/0 | 1921 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0002c0003t0002 | 0/0 | 1921 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| a0003c0001t0001 | 0/0 | 1921 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | copy fasta | chrY | 21506338 | 21530786 |
| actghapid | 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
|
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0002t0001g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| a0002c0003t0002g0001 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| a0003c0001t0001g0002 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NA18983 | hp1 | a0001 | c0002 | t0001 | g0003 | EAS | JPT | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| NA18985 | hp1 | a0002 | c0003 | t0002 | g0001 | EAS | JPT | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| NA19089 | hp1 | a0003 | c0001 | t0001 | g0002 | EAS | JPT | RBMY1B_chrY_21506338_21530786 | RBMY1B | chrY | 21506338 | 21530786 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:21517221
|
A | T | 2 | a0001a0002 | 2 | NA18983.hp1 NA18985.hp1 |
missense_variant | MODERATE | c.378A>T | p.Gln126His | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 4/12 | 530/1921 | 378/1491 | 126/496 | chrY | 21517221 | ||
| chrY:21525429
|
A | G | 1 | a0001 | 1 | NA18983.hp1 | missense_variant | MODERATE | c.1412A>G | p.Tyr471Cys | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 12/12 | 1564/1921 | 1412/1491 | 471/496 | chrY | 21525429 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:21522980
|
T | C | 1 | a0001c0002 | 1 | NA18983.hp1 | synonymous_variant | LOW | c.816T>C | p.Ser272Ser | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 8/12 | 968/1921 | 816/1491 | 272/496 | chrY | 21522980 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:21525650
|
C | T | 1 | a0002c0003t0002 | 1 | NA18985.hp1 | 3_prime_UTR_variant | MODIFIER | c.*142C>T | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 12/12 | 142 | chrY | 21525650 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrY:21511947
|
G | C | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.-5+462G>C | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 1/11 | chrY | 21511947 | ||||||
| chrY:21511981
|
C | T | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.-5+496C>T | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 1/11 | chrY | 21511981 | ||||||
| chrY:21512336
|
GT | G | 1 | a0002c0003t0002g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.-5+854delT | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chrY | 21512336 | |||||
| chrY:21513142
|
C | G | 2 | a0001c0002t0001g0003a0003c0001t0001g0002 | 2 | NA18983.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.-4-205C>G | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 1/11 | chrY | 21513142 | ||||||
| chrY:21513474
|
CGT | C | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.109+60_109+61delGT | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chrY | 21513474 | |||||
| chrY:21515008
|
CA | C | 1 | a0002c0003t0002g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.213+982delA | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrY | 21515008 | |||||
| chrY:21515188
|
A | AAAAT | 1 | a0003c0001t0001g0002 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.213+1162_213+1165d others(6): Show |
RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrY | 21515188 | |||||
| chrY:21516639
|
AT | A | 1 | a0002c0003t0002g0001 | 1 | NA18985.hp1 | intron_variant | MODIFIER | c.214-408delT | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrY | 21516639 | |||||
| chrY:21517467
|
C | G | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.391+233C>G | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 4/11 | chrY | 21517467 | ||||||
| chrY:21517976
|
G | GA | 1 | a0003c0001t0001g0002 | 1 | NA19089.hp1 | intron_variant | MODIFIER | c.391+748dupA | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chrY | 21517976 | |||||
| chrY:21518333
|
G | A | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.392-817G>A | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 4/11 | chrY | 21518333 | ||||||
| chrY:21519362
|
C | G | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.544+60C>G | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 5/11 | chrY | 21519362 | ||||||
| chrY:21520012
|
A | G | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.544+710A>G | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 5/11 | chrY | 21520012 | ||||||
| chrY:21524296
|
A | T | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.993-216A>T | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 9/11 | chrY | 21524296 | ||||||
| chrY:21524421
|
C | T | 1 | a0001c0002t0001g0003 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.993-91C>T | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 9/11 | chrY | 21524421 | ||||||
| chrY:21524689
|
CT | C | 3 | a0001c0002t0001g0003a0002c0003t0002g0001a0003c0001t0001g0002 | 3 | NA18983.hp1 NA18985.hp1 NA19089.hp1 |
intron_variant | MODIFIER | c.1104-9delT | RBMY1B | ENSG00000242875.7 | transcript | ENST00000383020.7 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chrY | 21524689 |