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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 CYB5A:

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
ENSG00000166347	CYB5A	1	0	1	ENSG00000166347	ENST00000580678		cytochrome b5 type A (microsomal) [Source:HGNC Symbol;Acc:2570]	18	71920530	71959251	-1	q22.3	71920530	71928916	CYB5A	CYB5A-004	HGNC Symbol	HGNC transcript name	7	44.42	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	1528	2570	CYB5A		27512

MSeqDR Master Exome Data Set M1: 162 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	18	71920633	C	A	ENST00000299438	ENSG00000166347	71920530	71959251	ENSP00000299438	CYB5A	-1	-	-	-	3'_UTR	rs115752542	0.0256	-	-	-	-	-	het	3
2	18	71920633	C	A	ENST00000340533	ENSG00000166347	71920530	71959251	ENSP00000341625	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	rs115752542	0.0256	-	-	-	-	-	het	3
3	18	71920633	C	A	ENST00000494131	ENSG00000166347	71920530	71959251	ENSP00000436461	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	rs115752542	0.0256	-	-	-	-	-	het	3
4	18	71920633	C	A	ENST00000580678	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.1070G>T	p.R357L	non-syn	rs115752542	0.0256	-	-	-	-	-	het	3
5	18	71920633	C	A	ENST00000583418	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.5812G>T	p.E1938*	non-syn	rs115752542	0.0256	-	-	-	-	-	het	3
6	18	71920633	C	T	ENST00000299438	ENSG00000166347	71920530	71959251	ENSP00000299438	CYB5A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	18	71920633	C	T	ENST00000340533	ENSG00000166347	71920530	71959251	ENSP00000341625	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	18	71920633	C	T	ENST00000494131	ENSG00000166347	71920530	71959251	ENSP00000436461	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	18	71920633	C	T	ENST00000580678	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.1070G>A	p.R357Q	non-syn	NA	-	-	-	-	-	-	het	1
10	18	71920633	C	T	ENST00000583418	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.5812G>A	p.E1938K	non-syn	NA	-	-	-	-	-	-	het	1
11	18	71920647	G	A	ENST00000299438	ENSG00000166347	71920530	71959251	ENSP00000299438	CYB5A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	18	71920647	G	A	ENST00000340533	ENSG00000166347	71920530	71959251	ENSP00000341625	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	18	71920647	G	A	ENST00000494131	ENSG00000166347	71920530	71959251	ENSP00000436461	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	18	71920647	G	A	ENST00000580678	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.1056C>T	p.C352C	syn	NA	-	-	-	-	-	-	het	1
15	18	71920647	G	A	ENST00000583418	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.5798C>T	p.A1933V	non-syn	NA	-	-	-	-	-	-	het	1
16	18	71920753	T	G	ENST00000299438	ENSG00000166347	71920530	71959251	ENSP00000299438	CYB5A	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
17	18	71920753	T	G	ENST00000340533	ENSG00000166347	71920530	71959251	ENSP00000341625	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
18	18	71920753	T	G	ENST00000397914	ENSG00000166347	71920530	71959251	ENSP00000381011	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
19	18	71920753	T	G	ENST00000494131	ENSG00000166347	71920530	71959251	ENSP00000436461	CYB5A	-1	CYB5_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
20	18	71920753	T	G	ENST00000579405	ENSG00000166347	71920530	71959251	-	CYB5A	-1	-	c.565A>C	p.N189H	non-syn	NA	-	-	-	-	-	-	het	3

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding CYB5A 18:71920530..71959251 region Gbrowse