Search by Gene
| geneid | 100133267 |
|---|---|
| ensemblid | ENSG00000233050.1 |
| hgncid | 39814 |
| symbol | DEFB130B |
| name | defensin beta 130B |
| refseq_nuc | NM_001195257.1 |
| refseq_prot | NP_001182186.1 |
| ensembl_nuc | ENST00000437818.1 |
| ensembl_prot | ENSP00000392568.1 |
| mane_status | MANE Select |
| chr | chr8 |
| start | 12064389 |
| end | 12071747 |
| strand | - |
| ver | v1.2 |
| region | chr8:12064389-12071747 |
| region5000 | chr8:12059389-12076747 |
| regionname0 | DEFB130B_chr8_12064389_12071747 |
| regionname5000 | DEFB130B_chr8_12059389_12076747 |
Multiple Alignments (by translate haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
Multiple Alignments (by aa haplotype frequency)
| 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 | regionname | genename | aa |
|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 79 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B | copy fasta |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 240 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B | copy fasta |
| thapid | 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
|
tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq |
|---|
| 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 |
|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B |
| achapid | ahapid | 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 |
total | AFR | AMR | EAS | EUR | SAS | regionname | genename | acseq |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | a0001 | c0001 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B | copy fasta |
| acthapid | ahapid | chapid | thapid | 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 | actseq |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0000 | a0001 | c0001 | t0000 | 0/0 | 2 | 2 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B | copy fasta |
| actghapid | ahapid | chapid | thapid | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0000g0001 | a0001 | c0001 | t0000 | g0001 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B |
| a0001c0001t0000g0002 | a0001 | c0001 | t0000 | g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | DEFB130B_chr8_12059389_12076747 | DEFB130B |
| chr:pos | ref | alt | # # of ahapid:amio-acid(protein) level
|
ahapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|
| chr:pos | ref | alt | # # of chapid
|
chapids | # # of haplotypeids
|
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|
| 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_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|
| 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_pos_length | cds_pos_length | aa_pos_length | distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chr8:12069040
|
C | G | 1 | a0001c0001t0000g0001 | 1 | NA20129.hp2 | intron_variant | MODIFIER | c.58+2650G>C | DEFB130B | ENSG00000233050.1 | transcript | ENST00000437818.1 | protein_coding | 1/1 | chr8 | 12069040 |