Item | Value |
---|---|
geneid | 643965 |
ensemblid | ENSG00000205116.4 |
hgncid | 37099 |
symbol | TMEM88B |
name | transmembrane protein 88B |
refseq_nuc | NM_001146685.2 |
refseq_prot | NP_001140157.1 |
ensembl_nuc | ENST00000378821.4 |
ensembl_prot | ENSP00000455099.1 |
mane_status | MANE Select |
chr | chr1 |
start | 1425871 |
end | 1430255 |
strand | + |
ver | v1.2 |
region | chr1:1425871-1430255 |
region5000 | chr1:1420871-1435255 |
regionname0 | TMEM88B_chr1_1425871_1430255 |
regionname5000 | TMEM88B_chr1_1420871_1435255 |
ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001 | 1/1 | 163 | 3 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | MSEQG others(158): Show |
chr1 | 1420871 | 1435255 |
a0002 | 0/0 | 163 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | MSEQG others(158): Show |
chr1 | 1420871 | 1435255 |
achapid | grch38/chm13v2 | alen | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | aseq | cseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001 | 1/1 | 489 | 3 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | ATGAG others(484): Show |
chr1 | 1420871 | 1435255 | ||
a0002c0002 | 0/0 | 489 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | ATGAG others(484): Show |
chr1 | 1420871 | 1435255 |
acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002 | 1/0 | 3217 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | AGAGC others(3212): Show |
chr1 | 1420871 | 1435255 |
a0001c0001t0003 | 0/1 | 3693 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | AGAGC others(3688): Show |
chr1 | 1420871 | 1435255 |
a0001c0001t0004 | 0/0 | 3725 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | AGAGC others(3720): Show |
chr1 | 1420871 | 1435255 |
a0002c0002t0001 | 0/0 | 3496 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | AGAGC others(3491): Show |
chr1 | 1420871 | 1435255 |
actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
a0001c0001t0002g0001 | 1/0 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
a0001c0001t0003g0003 | 0/1 | 1 | 0 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
a0001c0001t0004g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
a0002c0002t0001g0004 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
---|---|---|---|---|---|---|---|---|---|---|---|---|
HG02922 | hp1 | a0002 | c0002 | t0001 | g0004 | AFR | ESN | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
HG02922 | hp2 | a0001 | c0001 | t0004 | g0002 | AFR | ESN | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
homoSapiens | chm13v2 | a0001 | c0001 | t0003 | g0003 | REF | REF | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
homoSapiens | grch38p0 | a0001 | c0001 | t0002 | g0001 | REF | REF | TMEM88B_chr1_1420871_1435255 | TMEM88B | chr1 | 1420871 | 1435255 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:1426356 | G | A | 1 | a0002 | 1 | HG02922.hp1 | missense_variant | MODERATE | c.229G>A | p.Val77Ile | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/2 | 486/3217 | 229/492 | 77/163 | chr1 | 1426356 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:1426175 | T | C | 1 | a0002c0002 | 1 | HG02922.hp1 | synonymous_variant | LOW | c.48T>C | p.Gly16Gly | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/2 | 305/3217 | 48/492 | 16/163 | chr1 | 1426175 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:1427992 | G | A | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*205G>A | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 205 | chr1 | 1427992 | ||||||
chr1:1427995 | A | G | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*208A>G | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 208 | chr1 | 1427995 | ||||||
chr1:1428023 | G | GGAGGGGA others(451): Show |
1 | a0001c0001t0004 | 1 | HG02922.hp2 | 3_prime_UTR_variant | MODIFIER | c.*247_*248insGAGAGA others(452): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 248 | INFO_REALIGN_3_PRIME | chr1 | 1428023 | |||||
chr1:1428069 | G | C | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*282G>C | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 282 | chr1 | 1428069 | ||||||
chr1:1428120 | G | GAGAGGGG others(287): Show |
1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*335_*336insAGGGGA others(288): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 336 | INFO_REALIGN_3_PRIME | chr1 | 1428120 | |||||
chr1:1428128 | G | GGCAGGGG others(43): Show |
1 | a0001c0001t0004 | 1 | HG02922.hp2 | 3_prime_UTR_variant | MODIFIER | c.*342_*343insCAGGGG others(44): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 343 | INFO_REALIGN_3_PRIME | chr1 | 1428128 | |||||
chr1:1428172 | GGAGAGGG others(8): Show |
G | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*398_*412delGAAGAG others(9): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 398 | INFO_REALIGN_3_PRIME | chr1 | 1428172 | |||||
chr1:1428427 | G | C | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*640G>C | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 640 | chr1 | 1428427 | ||||||
chr1:1428542 | A | G | 1 | a0001c0001t0004 | 1 | HG02922.hp2 | 3_prime_UTR_variant | MODIFIER | c.*755A>G | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 755 | chr1 | 1428542 | ||||||
chr1:1428763 | A | G | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*976A>G | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 976 | chr1 | 1428763 | ||||||
chr1:1429754 | A | G | 1 | a0002c0002t0001 | 1 | HG02922.hp1 | 3_prime_UTR_variant | MODIFIER | c.*1967A>G | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 1967 | chr1 | 1429754 |
view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
chr1:1426507 | C | G | 1 | a0002c0002t0001g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.258+122C>G | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | chr1 | 1426507 | |||||||
chr1:1426580 | G | A | 1 | a0002c0002t0001g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.258+195G>A | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | chr1 | 1426580 | |||||||
chr1:1426982 | C | A | 1 | a0002c0002t0001g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.259-572C>A | TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | chr1 | 1426982 | |||||||
chr1:1427447 | T | TTCCCCTC others(899): Show |
1 | a0002c0002t0001g0004 | 1 | HG02922.hp1 | intron_variant | MODIFIER | c.259-87_259-86insTG others(904): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | 1427447 | ||||||
chr1:1427468 | A | AGCCCCCT others(1084): Show |
1 | a0001c0001t0004g0002 | 1 | HG02922.hp2 | intron_variant | MODIFIER | c.259-53_259-52insTC others(1089): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | 1427468 |