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Haplotype Detail Info [AASDH_chr4_56333290_56392491>a0001c0001t0001g0096]

geneid	132949
ensemblid	ENSG00000157426.14
hgncid	23993
symbol	AASDH
name	aminoadipate-semialdehyde dehydrogenase
refseq_nuc	NM_181806.4
refseq_prot	NP_861522.2
ensembl_nuc	ENST00000205214.11
ensembl_prot	ENSP00000205214.6
mane_status	MANE Select
chr	chr4
start	56338290
end	56387491
strand	-
ver	v1.2
region	chr4:56338290-56387491
region5000	chr4:56333290-56392491
regionname0	AASDH_chr4_56338290_56387491
regionname5000	AASDH_chr4_56333290_56392491

chr:pos	ref	alt	af	annotation	impact	samples	AHAPIDS	ACHAPIDS	ACTHAPIDS	ACTGHAPIDS	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	af	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c	hgvs_p	cdna_pos_length	cds_pos_length	aa_pos_length	distance	status

chr:pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	genename	geneid	featuretype	featureid	transcript_biotype	rank	hgvs_c
chr4:56340133	C C	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 NA18906.hp2 HG01109.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	3	382	0.0079	0	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	14/14	c.2908-1342G>A
chr4:56352497	G G	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 NA18906.hp2 HG01109.hp2 HG03098.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096	3	382	0.0079	0	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	9/14	c.1576+907C>T
chr4:56376019	CT CT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01515.hp2 HG01517.hp2 others(22): Show HG01109.hp2 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG02145.hp1 HG02293.hp1 HG02523.hp1 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG03139.hp1 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03654.hp1 NA18941.hp2 NA18946.hp2 NA18948.hp1 NA18960.hp2 NA18963.hp2 NA18979.hp1 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA19043.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0006 a0008	a0001c0001 a0002c0002 a0004c0004 others(3): Show a0001c0001 a0002c0002 a0004c0004 a0005c0007 a0006c0020 a0008c0011	a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 others(4): Show a0001c0001t0001 a0002c0002t0001 a0004c0004t0001 a0004c0004t0006 a0005c0007t0003 a0006c0020t0001 a0008c0011t0002	a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0096 others(22): Show a0001c0001t0001g0066 a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0100 a0002c0002t0001g0195 a0002c0002t0001g0196 a0002c0002t0001g0197 a0002c0002t0001g0200 a0002c0002t0001g0216 a0004c0004t0001g0129 a0004c0004t0001g0147 a0004c0004t0001g0148 a0004c0004t0001g0149 a0004c0004t0001g0173 a0004c0004t0001g0222 a0004c0004t0006g0031 a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0035 a0005c0007t0003g0036 a0005c0007t0003g0037 a0005c0007t0003g0038 a0005c0007t0003g0040 a0006c0020t0001g0092 a0008c0011t0002g0205	25	382	0.0655	-1	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	4/14	c.668+2128delA
chr4:56381649	T T	TCA TCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03098.hp1 NA18906.hp2 others(4): Show HG01109.hp2 HG03098.hp1 NA18906.hp2 NA18953.hp1 NA19003.hp1 NA19010.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0095 others(4): Show a0001c0001t0001g0057 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0165	7	382	0.0183	2	AASDH	ENSG00000157426.14	transcript	ENST00000205214.11	protein_coding	3/14	c.351+826_351+827dupTG

genename	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	ahapid	alen	total	AFR	AMR	EAS	EUR	SAS	aseq	chr	start	end
AASDH	1/0	a0001	1098	130	26	16	73	8	6	subcellular location copy fasta	chr4	56333290	56392491

genename	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	chapid	clen	total	AFR	AMR	EAS	EUR	SAS	cseq	chr	start	end
AASDH	1/0	c0001	3297	87	19	12	46	5	4	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2	thapid	tlen	total	AFR	AMR	EAS	EUR	SAS	tseq	chr	start	end
AASDH	1/0	t0001	285	289	51	36	170	10	21	copy fasta	chr4	56333290	56392491

genename	grch38/ chm13v2	ghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
AASDH	0/0	g0096	1	0	1	0	0	0	chr4	56333290	56392491

genename	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	achapid	total	AFR	AMR	EAS	EUR	SAS	clen	cseq	chr	start	end
AASDH	1/0	a0001c0001	87	19	12	46	5	4	3297	copy fasta	chr4	56333290	56392491

genename	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	acthapid	total	AFR	AMR	EAS	EUR	SAS	tlen	tseq	chr	start	end
AASDH	1/0	a0001c0001t0001	87	19	12	46	5	4	3581	copy fasta	chr4	56333290	56392491

genename	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	actghapid	total	AFR	AMR	EAS	EUR	SAS	chr	start	end
AASDH	0/0	a0001c0001t0001g0096	1	0	1	0	0	0	chr4	56333290	56392491

pos	S. Strand	E# Exon Number	max	median	min	type	haplotypeid	max_hap_list	min_hap_list	symbol	chr	start	end
56387362	-	1	-0.4443	-0.4443	-0.4443	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56384070	-	2	-0.3026	-0.3026	-0.3026	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56384341	-	2	0.3664	0.3664	0.3664	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56382477	-	3	-0.5908	-0.5908	-0.5908	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56382597	-	3	0.7349	0.7349	0.7349	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56378148	-	4	-0.7095	-0.7095	-0.7095	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56378464	-	4	0.7154	0.7154	0.7154	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56371451	-	5	-0.8321	-0.8321	-0.8321	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56371643	-	5	0.8424	0.8424	0.8424	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56355182	-	6	-0.9056	-0.9056	-0.9056	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56355423	-	6	0.8864	0.8864	0.8864	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56354705	-	7	-0.4901	-0.4900	-0.4901	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56354811	-	7	0.6330	0.6330	0.6330	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56354039	-	8	-0.9909	-0.9909	-0.9909	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56354211	-	8	0.9878	0.9878	0.9878	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56353404	-	9	-0.9956	-0.9956	-0.9956	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56353596	-	9	0.9982	0.9981	0.9982	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56351342	-	10	-0.7691	-0.7691	-0.7691	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56351457	-	10	0.8056	0.8056	0.8056	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56349263	-	11	-0.7120	-0.7120	-0.7120	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56350058	-	11	0.9157	0.9157	0.9157	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56345127	-	12	-0.9756	-0.9756	-0.9756	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56345290	-	12	0.9485	0.9485	0.9485	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56343562	-	13	-0.6682	-0.6682	-0.6682	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56343684	-	13	0.8828	0.8828	0.8828	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56342835	-	14	-0.6861	-0.6861	-0.6861	acceptor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56342966	-	14	0.7276	0.7276	0.7276	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491
56338791	-	15	0.9349	0.9349	0.9349	donor	a0001c0001t0001g0096	HG01109.hp2 HG01109.hp2	HG01109.hp2 HG01109.hp2	AASDH	chr4	56333290	56392491

pos	annotation hgvs_c hgvs_p	clinvarid	clnsig	geneinfo	mc	clndisdb	strand strand	ahapid ahapid_count	chapid chapid count	thapid thapid_count	ghapid ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	impact	chr	ref	alt	external

CHR:POS	annotation hgvs_c hgvs_p	disease trait -log10p odds or beta	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	study	initial sample size/ replication sample size	report genes	mapped gene	strongest snp risk allele	strand strand	impact	chr	ref	alt

pos	genename hgvs_c hgvs_p annotation	tissue expression gene -log10(pval) slope Tissue name in GTEx database(the target eQTL tissue name of the GTEx database) The -log10(nominal pvalue) in GTEx database Slope in GTEx database (positive value:alt allele has higher gene expression)	ahapid chapid thapid ghapid ahapid_count chapid_count thapid_count ghapid_count	AHAPIDS ahapids	ACHAPIDS achapids	ACTHAPIDS acthapids	ACTGHAPIDS actghapids	haplotypeids haplotypeids	af allele frequency in GTEx database	ms The number of samples with minor allele in GTEx database	ma The number of minor allele count in GTEx database	ver GTEx version	vid Variant ID in GTEx database	strand strand	impact	chr	ref	alt	external

Haplotype Detail Info [AASDH_chr4_56333290_56392491>a0001c0001t0001g0096]

🧬 Gene Summary

🧬 JoGo Online Haplotype Explorer AASDH_chr4_56333290_56392491

AVariants in Amino-acids (protein) level Haplotype (Total: 0)

CVariants in Coding level Haplotype (Total: 0)

TVariants in Transcript level Haplotype (Total: 0)

GVariants in Genebody level Haplotype (Total: 4)

AAmino-acid (protein) Level Haplotype Info (Total: 1)

CCoding Level Haplotype Info (Total: 1)

TTranscript Level Haplotype Info (Total: 1)

GGenebody Level Haplotype Info (Total: 1)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 1)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 1)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 1)

📊 HaplotypeQTL Info

⚡ Splicing Related Variants (Total: 28)

🩺 Clinvar Related Variants (Total: 0)

GWASCatalog Related Variants (Total: 0)

GTEx Related Variants (Page 1 of 1 - Total: 0)