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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Central Portal

MSeqDR Data Summary for the Term ADSL:

Ensembl Gene ID	Associated Gene Name	LSDB Genes	LSDB Variants	clinVar hits	Ensembl Gene ID	Ensembl Transcript ID	Ensembl Protein ID	Description	Chr	Gene Start	Gene End	Strand	Band	Transcript Start bp	Transcript End bp	Associated Gene Name	Associated Transcript Name	Associated Gene DB	Associated Transcript DB	Transcript count	pct GC content	Gene Biotype	Transcript Biotype	Source Gene	Source Transcript	Status gene	Status transcript	EntrezGene ID	HGNC ID	HGNC Symbol	RefSeq mRNA	Seq region id
ENSG00000239900	ADSL	1	0	64	ENSG00000239900	ENST00000216194	ENSP00000216194	adenylosuccinate lyase [Source:HGNC Symbol;Acc:291]	22	40742507	40786467	1	q13.1	40742507	40763008	ADSL	ADSL-001	HGNC Symbol	HGNC transcript name	8	44.97	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	158	291	ADSL	NM_000026	27510

MSeqDR Master Exome Data Set M1: 66 entries from same gene

No.	Chr	Position	Reference	Variant	EnsemblTranscriptID	EnsemblGeneID	Gene_Start	Gene_End	EnsemblProteinID	Gene	strand	Uniprot	cChange	pChange	Nature	dbSNP	Freq	EVS	phastCons	SIFT	Polyphen	HGMD	type	samples
1	22	40742602	C	T	ENST00000216194	ENSG00000239900	40742507	40786467	ENSP00000216194	ADSL	1	PUR8_HUMAN	c.40C>T	p.R14C	non-syn	NA	-	-	lod=607:654	TOLERATED	B	-	het	1
2	22	40742602	C	T	ENST00000342312	ENSG00000239900	40742507	40786467	ENSP00000341429	ADSL	1	PUR8_HUMAN	c.40C>T	p.R14C	non-syn	NA	-	-	lod=607:654	TOLERATED	B	-	het	1
3	22	40742602	C	T	ENST00000454266	ENSG00000239900	40742507	40786467	ENSP00000390107	ADSL	1	-	c.40C>T	p.R14C	non-syn	NA	-	-	lod=607:654	TOLERATED	B	-	het	1
4	22	40742602	C	T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.81C>T	p.T27T	syn	NA	-	-	lod=607:654	TOLERATED	B	-	het	1
5	22	40742686	C	T	ENST00000216194	ENSG00000239900	40742507	40786467	ENSP00000216194	ADSL	1	PUR8_HUMAN	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	hom	1
6	22	40742686	C	T	ENST00000216194	ENSG00000239900	40742507	40786467	ENSP00000216194	ADSL	1	PUR8_HUMAN	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	het	30
7	22	40742686	C	T	ENST00000342312	ENSG00000239900	40742507	40786467	ENSP00000341429	ADSL	1	PUR8_HUMAN	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	hom	1
8	22	40742686	C	T	ENST00000342312	ENSG00000239900	40742507	40786467	ENSP00000341429	ADSL	1	PUR8_HUMAN	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	het	30
9	22	40742686	C	T	ENST00000454266	ENSG00000239900	40742507	40786467	ENSP00000390107	ADSL	1	-	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	hom	1
10	22	40742686	C	T	ENST00000454266	ENSG00000239900	40742507	40786467	ENSP00000390107	ADSL	1	-	c.124C>T	p.L42L	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	het	30
11	22	40742686	C	T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.165C>T	p.S55S	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	hom	1
12	22	40742686	C	T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.165C>T	p.S55S	syn	rs2228415	0.0084	T=115/C=8485;T=2/C=4404;T=117/C=12889	lod=607:654	-	-	-	het	30
13	22	40746137	C	+T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.496_497insT	p.L166NA	non-syn	NA	-	-	-	-	-	-	het	1
14	22	40746137	C	-T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.497_497del	p.L166NA	non-syn	NA	-	-	-	-	-	-	het	2
15	22	40746150	T	C	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.509T>C	p.F170S	non-syn	rs186758682	0.0221	-	-	-	-	-	hom	2
16	22	40746150	T	C	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.509T>C	p.F170S	non-syn	rs186758682	0.0221	-	-	-	-	-	het	1
17	22	40746196	C	T	ENST00000466863	ENSG00000239900	40742507	40786467	-	ADSL	1	-	c.555C>T	p.H185H	syn	NA	-	-	-	-	-	-	het	1
18	22	40749073	G	A	ENST00000216194	ENSG00000239900	40742507	40786467	ENSP00000216194	ADSL	1	PUR8_HUMAN	-	-	-4bp 3'_splice_site	rs113199851	0.0438	A=2/G=8598;A=268/G=4138;A=270/G=12736	lod=124:484	-	-	-	het	5
19	22	40749073	G	A	ENST00000342312	ENSG00000239900	40742507	40786467	ENSP00000341429	ADSL	1	PUR8_HUMAN	-	-	-4bp 3'_splice_site	rs113199851	0.0438	A=2/G=8598;A=268/G=4138;A=270/G=12736	lod=124:484	-	-	-	het	5
20	22	40749358	G	A	ENST00000454266	ENSG00000239900	40742507	40786467	ENSP00000390107	ADSL	1	-	c.379G>A	p.V127M	non-syn	NA	-	-	-	DAMAGING	-	-	het	1

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Transcripts and variants in the surrounding ADSL 22:40742507..40786467 region Gbrowse