JoGo: Joint Open Genome and Omics Platform

Search by Genic region

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

ahapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: 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	79	2	2	0	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	copy fasta	chr8	12059389	12076747

chapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: 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	240	2	2	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	copy fasta	chr8	12059389	12076747

thapid	grch38 chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end

ghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: 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	1	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747
g0002	0/0	1	1	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747

achapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	240	2	2	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	copy fasta	chr8	12059389	12076747

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0000	0/0	240	2	2	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	copy fasta	chr8	12059389	12076747

actghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	chr	start	end
a0001c0001t0000g0001	0/0	1	1	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747
a0001c0001t0000g0002	0/0	1	1	0	0	0	0	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
NA20129	hp1	a0001	c0001	t0000	g0002	AFR	ASW	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747
NA20129	hp2	a0001	c0001	t0000	g0001	AFR	ASW	DEFB130B_chr8_12059389_12076747	DEFB130B	chr8	12059389	12076747

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

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

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

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
chr8:12069040	C C	G G	1	a0001c0001t0000g0001 a0001c0001t0000g0001	1	NA20129.hp2 NA20129.hp2	intron_variant	MODIFIER	c.58+2650G>C c.58+2650G>C		DEFB130B	ENSG00000233050.1	transcript	ENST00000437818.1	protein_coding	1/1						chr8	12069040