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geneid	728229
ensemblid	ENSG00000278558.6
hgncid	33600
symbol	TMEM191B
name	transmembrane protein 191B
refseq_nuc	NM_001242313.1
refseq_prot	NP_001229242.1
ensembl_nuc	ENST00000612978.5
ensembl_prot	ENSP00000481358.1
mane_status	MANE Select
chr	chr22
start	18527802
end	18530573
strand	+
ver	v1.2
region	chr22:18527802-18530573
region5000	chr22:18522802-18535573
regionname0	TMEM191B_chr22_18527802_18530573
regionname5000	TMEM191B_chr22_18522802_18535573

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	SAS	JPT	regionname	genename	aa	chr	start	end
a0001	0/0	347	23	7	5	10	1	8	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0002	1/0	346	4	1	1	0	1	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0003	0/0	347	2	2	0	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573

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	SAS	regionname	genename	cseq	chr	start	end
c0001	0/0	1044	23	7	5	10	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
c0002	1/0	1041	4	1	1	0	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
c0003	0/0	1044	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573

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	SAS	regionname	genename	tseq	chr	start	end
t0001	1/0	294	26	7	6	10	2	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
t0002	0/0	288	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
t0003	0/0	294	1	1	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573

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	SAS	regionname	genename	chr	start	end
g0001	1/0	22	4	5	10	2	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
g0002	0/0	3	2	1	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
g0003	0/0	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
g0004	0/0	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573

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	SAS	regionname	genename	cseq	chr	start	end
a0001c0001	0/0	1044	23	7	5	10	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0002c0002	1/0	1041	4	1	1	0	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0003c0003	0/0	1044	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573

acthapid	grch38 chm13v2	tlen	total	AFR	AMR	EAS	SAS	regionname	genename	tseq	chr	start	end
a0001c0001t0001	0/0	1337	22	6	5	10	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0001c0001t0003	0/0	1337	1	1	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0002c0002t0001	1/0	1334	4	1	1	0	1	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573
a0003c0003t0002	0/0	1331	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	copy fasta	chr22	18522802	18535573

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	SAS	regionname	genename	chr	start	end
a0001c0001t0001g0001	0/0	17	2	4	10	1	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
a0001c0001t0001g0002	0/0	3	2	1	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
a0001c0001t0001g0003	0/0	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
a0001c0001t0003g0001	0/0	1	1	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
a0002c0002t0001g0001	1/0	4	1	1	0	1	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
a0003c0003t0002g0004	0/0	2	2	0	0	0	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573

sampleid	ID haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename	chr	start	end
HG00597	hp1	a0001	c0001	t0001	g0001	EAS	CHS	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG00597	hp2	a0001	c0001	t0001	g0001	EAS	CHS	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG00642	hp1	a0001	c0001	t0001	g0001	AMR	PUR	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG00642	hp2	a0001	c0001	t0001	g0001	AMR	PUR	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG01243	hp1	a0002	c0002	t0001	g0001	AMR	PUR	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG01243	hp2	a0001	c0001	t0001	g0002	AMR	PUR	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG01975	hp1	a0001	c0001	t0001	g0001	AMR	PEL	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG01975	hp2	a0001	c0001	t0001	g0001	AMR	PEL	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02615	hp1	a0001	c0001	t0001	g0002	AFR	GWD	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02615	hp2	a0001	c0001	t0003	g0001	AFR	GWD	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02738	hp1	a0002	c0002	t0001	g0001	SAS	PJL	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02738	hp2	a0001	c0001	t0001	g0001	SAS	PJL	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02970	hp1	a0001	c0001	t0001	g0003	AFR	ESN	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02970	hp2	a0003	c0003	t0002	g0004	AFR	ESN	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02976	hp1	a0003	c0003	t0002	g0004	AFR	ESN	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG02976	hp2	a0001	c0001	t0001	g0001	AFR	ESN	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG03041	hp1	a0001	c0001	t0001	g0002	AFR	GWD	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
HG03041	hp2	a0001	c0001	t0001	g0003	AFR	GWD	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA18947	hp1	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA18947	hp2	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19009	hp1	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19009	hp2	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19011	hp1	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19011	hp2	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA19065	hp2	a0001	c0001	t0001	g0001	EAS	JPT	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA21309	hp1	a0001	c0001	t0001	g0001	AFR	LWK	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
NA21309	hp2	a0002	c0002	t0001	g0001	AFR	LWK	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573
homoSapiens_grch38	hp1	a0002	c0002	t0001	g0001	REF	REF	TMEM191B_chr22_18522802_18535573	TMEM191B	chr22	18522802	18535573

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
chr22:18528587	C C	G G	1	a0003 a0003	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	missense_variant	MODERATE	c.325C>G c.325C>G	p.Gln109Glu p.Gln109Glu	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	2/9	504/1334	325/1041	109/346			chr22	18528587
chr22:18529023	T T	TCTA TCTA	2	a0001 a0003 a0001 a0003	25	HG00597.hp1 HG00597.hp2 HG00642.hp1 others(22): Show HG00597.hp1 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG01243.hp2 HG01975.hp1 HG01975.hp2 HG02615.hp1 HG02615.hp2 HG02738.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 NA18947.hp1 NA18947.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19065.hp1 NA19065.hp2 NA21309.hp1	conservative_inframe_insertion	MODERATE	c.478_480dupTAC c.478_480dupTAC	p.Tyr160dup p.Tyr160dup	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	4/9	660/1334	481/1041	161/346		INFO_REALIGN_3_PRIME	chr22	18529023

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
chr22:18529042	G G	A A	1	a0003c0003 a0003c0003	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	synonymous_variant	LOW	c.495G>A c.495G>A	p.Gln165Gln p.Gln165Gln	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	4/9	674/1334	495/1041	165/346			chr22	18529042

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
chr22:18527888	T T	A A	1	a0001c0001t0003 a0001c0001t0003	1	HG02615.hp2 HG02615.hp2	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-93T>A c.-93T>A		TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	1/9						chr22	18527888
chr22:18530557	TAAACTC TAAACTC	T T	1	a0003c0003t0002 a0003c0003t0002	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	3_prime_UTR_variant	MODIFIER	c.101_106delACTCAA c.101_106delACTCAA		TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	9/9				101	INFO_REALIGN_3_PRIME	chr22	18530557

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	status	chr	pos
chr22:18528473	AGCCT AGCCT	A A	1	a0003c0003t0002g0004 a0003c0003t0002g0004	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	intron_variant	MODIFIER	c.297-83_297-80delCT others(2): Show c.297-83_297-80delCTGC	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	1/8	INFO_REALIGN_3_PRIME	chr22	18528473
chr22:18528514	C C	A A	1	a0001c0001t0001g0003 a0001c0001t0001g0003	2	HG02970.hp1 HG03041.hp2 HG02970.hp1 HG03041.hp2	intron_variant	MODIFIER	c.297-45C>A c.297-45C>A	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	1/8		chr22	18528514
chr22:18528726	A A	G G	1	a0003c0003t0002g0004 a0003c0003t0002g0004	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	intron_variant	MODIFIER	c.420+44A>G c.420+44A>G	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	2/8		chr22	18528726
chr22:18528968	T T	C C	1	a0003c0003t0002g0004 a0003c0003t0002g0004	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	intron_variant	MODIFIER	c.472-51T>C c.472-51T>C	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	3/8		chr22	18528968
chr22:18529290	A A	G G	1	a0003c0003t0002g0004 a0003c0003t0002g0004	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	intron_variant	MODIFIER	c.547-151A>G c.547-151A>G	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	4/8		chr22	18529290
chr22:18529295	T T	C C	1	a0003c0003t0002g0004 a0003c0003t0002g0004	2	HG02970.hp2 HG02976.hp1 HG02970.hp2 HG02976.hp1	intron_variant	MODIFIER	c.547-146T>C c.547-146T>C	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	4/8		chr22	18529295
chr22:18530047	C C	T T	1	a0001c0001t0001g0002 a0001c0001t0001g0002	3	HG01243.hp2 HG02615.hp1 HG03041.hp1 HG01243.hp2 HG02615.hp1 HG03041.hp1	intron_variant	MODIFIER	c.795+39C>T c.795+39C>T	TMEM191B	ENSG00000278558.6	transcript	ENST00000612978.5	protein_coding	7/8		chr22	18530047

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🧬 JoGo Online Haplotype Explorer TMEM191B_chr22_18522802_18535573

JoGo Local Haplotype Explorer (on iGV) TMEM191B_chr22_18522802_18535573

Translation Multiple Alignment View

ACTG-Haplotype Mutation Positions 3D Viewer

🧬 Gene Summary

AAmino acid(protein) Level Haplotype Info (Total: 3)

CCoding Level Haplotype Info (Total: 3)

TTranscript Level Haplotype Info (Total: 3)

GGenebody Level Haplotype Info (Total: 4)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 3)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 4)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 6)

Haplotype Details by Sample (Haploid Level) (Total: 29)

AAmino acid(protein) Level Haplotype Related Variants (Effect to Protein Coding Variants) (Total: 2)

CCoding Level Variants (Synonymous Mutations) (Total: 1)

TTranscript Level Haplotype Variants (5'UTR+3'UTR) (Total: 2)

GGenebody Level Haplotype Variants (Intron) (Total: 7)

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Annotation (Repeats)

Annotation (SNP Array)