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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 HSPD1:

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
ENSG00000144381	HSPD1	1	2	20	ENSG00000144381	ENST00000388968	ENSP00000373620	heat shock 60kDa protein 1 (chaperonin) [Source:HGNC Symbol;Acc:5261]	2	198351305	198381461	-1	q33.1	198351305	198364771	HSPD1	HSPD1-001	HGNC Symbol	HGNC transcript name	15	42.78	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	3329	5261	HSPD1	NM_002156	27508

MSeqDR Master Exome Data Set M1: 198 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	2	198351804	C	G	ENST00000345042	ENSG00000144381	198351305	198381461	ENSP00000340019	HSPD1	-1	CH60_HUMAN	c.1688G>C	p.G563A	non-syn	rs41265953	0.0244	G=142/C=8236;G=13/C=4243;G=155/C=12479	lod=100:461	DAMAGING	NA	-	het	5
2	2	198351804	C	G	ENST00000388968	ENSG00000144381	198351305	198381461	ENSP00000373620	HSPD1	-1	CH60_HUMAN	c.1688G>C	p.G563A	non-syn	rs41265953	0.0244	G=142/C=8236;G=13/C=4243;G=155/C=12479	lod=100:461	DAMAGING	NA	-	het	5
3	2	198351878	C	G	ENST00000345042	ENSG00000144381	198351305	198381461	ENSP00000340019	HSPD1	-1	CH60_HUMAN	c.1614G>C	p.L538L	syn	NA	-	-	lod=340:592	-	-	-	het	1
4	2	198351878	C	G	ENST00000388968	ENSG00000144381	198351305	198381461	ENSP00000373620	HSPD1	-1	CH60_HUMAN	c.1614G>C	p.L538L	syn	NA	-	-	lod=340:592	-	-	-	het	1
5	2	198353224	G	A	ENST00000345042	ENSG00000144381	198351305	198381461	ENSP00000340019	HSPD1	-1	CH60_HUMAN	-	-	-9bp 3'_splice_site	rs189395138	0.00541	A=17/G=8583;A=0/G=4406;A=17/G=12989	-	-	-	-	het	5
6	2	198353224	G	A	ENST00000388968	ENSG00000144381	198351305	198381461	ENSP00000373620	HSPD1	-1	CH60_HUMAN	-	-	-9bp 3'_splice_site	rs189395138	0.00541	A=17/G=8583;A=0/G=4406;A=17/G=12989	-	-	-	-	het	5
7	2	198353224	G	A	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	-	-	-9bp 3'_splice_site	rs189395138	0.00541	A=17/G=8583;A=0/G=4406;A=17/G=12989	-	-	-	-	het	5
8	2	198353714	A	G	ENST00000345042	ENSG00000144381	198351305	198381461	ENSP00000340019	HSPD1	-1	CH60_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
9	2	198353714	A	G	ENST00000388968	ENSG00000144381	198351305	198381461	ENSP00000373620	HSPD1	-1	CH60_HUMAN	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
10	2	198353714	A	G	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	-	-	+12bp 5'_splice_site	NA	-	-	-	-	-	-	het	1
11	2	198353801	G	A	ENST00000345042	ENSG00000144381	198351305	198381461	ENSP00000340019	HSPD1	-1	CH60_HUMAN	c.1140C>T	p.V380V	syn	rs61736612	0.1497	A=8/G=8588;A=846/G=3560;A=854/G=12148	lod=237:554	-	-	-	het	10
12	2	198353801	G	A	ENST00000388968	ENSG00000144381	198351305	198381461	ENSP00000373620	HSPD1	-1	CH60_HUMAN	c.1140C>T	p.V380V	syn	rs61736612	0.1497	A=8/G=8588;A=846/G=3560;A=854/G=12148	lod=237:554	-	-	-	het	10
13	2	198353801	G	A	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.547C>T	p.H183Y	non-syn	rs61736612	0.1497	A=8/G=8588;A=846/G=3560;A=854/G=12148	lod=237:554	-	-	-	het	10
14	2	198355135	T	+C	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.161_162insG	p.Q54NA	non-syn	NA	-	-	-	-	-	-	het	1
15	2	198355135	T	+TG	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.161_162insCA	p.Q54NA	non-syn	rs148517124	-	-	-	-	-	-	het	695
16	2	198355135	T	+TG	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.161_162insCA	p.Q54NA	non-syn	rs148517124	-	-	-	-	-	-	hom	13
17	2	198355147	G	+T	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.149_150insA	p.N50NA	non-syn	NA	-	-	-	-	-	-	het	2
18	2	198355153	T	G	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.144A>C	p.K48N	non-syn	rs11682567	0.18416	-	-	-	-	-	het	8
19	2	198355153	T	G	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.144A>C	p.K48N	non-syn	rs11682567	0.18416	-	-	-	-	-	hom	1
20	2	198355281	G	A	ENST00000491249	ENSG00000144381	198351305	198381461	-	HSPD1	-1	-	c.16C>T	p.R6C	non-syn	rs145370125	0.0023	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding HSPD1 2:198351305..198381461 region Gbrowse