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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 DIABLO:

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
ENSG00000184047	DIABLO	1	0	9	ENSG00000184047	ENST00000353548	ENSP00000320343	diablo, IAP-binding mitochondrial protein [Source:HGNC Symbol;Acc:21528]	12	122692210	122712081	-1	q24.31	122692216	122710599	DIABLO	DIABLO-002	HGNC Symbol	HGNC transcript name	15	47.06	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	56616	21528	DIABLO	NM_001278342	27519

MSeqDR Master Exome Data Set M1: 215 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	12	122692291	G	A	ENST00000353548	ENSG00000184047	122692210	122712081	ENSP00000320343	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs193049718	0.00369	-	-	-	-	-	het	1
2	12	122692291	G	A	ENST00000413918	ENSG00000184047	122692210	122712081	ENSP00000411638	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs193049718	0.00369	-	-	-	-	-	het	1
3	12	122692291	G	A	ENST00000443649	ENSG00000184047	122692210	122712081	ENSP00000398495	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs193049718	0.00369	-	-	-	-	-	het	1
4	12	122692346	G	A	ENST00000267169	ENSG00000184047	122692210	122712081	ENSP00000267169	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
5	12	122692346	G	A	ENST00000342392	ENSG00000184047	122692210	122712081	ENSP00000339963	DIABLO	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
6	12	122692346	G	A	ENST00000353548	ENSG00000184047	122692210	122712081	ENSP00000320343	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
7	12	122692346	G	A	ENST00000413918	ENSG00000184047	122692210	122712081	ENSP00000411638	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
8	12	122692346	G	A	ENST00000443649	ENSG00000184047	122692210	122712081	ENSP00000398495	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
9	12	122692346	G	A	ENST00000464942	ENSG00000184047	122692210	122712081	ENSP00000442360	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	6
10	12	122692368	T	A	ENST00000267169	ENSG00000184047	122692210	122712081	ENSP00000267169	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	12	122692368	T	A	ENST00000342392	ENSG00000184047	122692210	122712081	ENSP00000339963	DIABLO	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	12	122692368	T	A	ENST00000353548	ENSG00000184047	122692210	122712081	ENSP00000320343	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	12	122692368	T	A	ENST00000413918	ENSG00000184047	122692210	122712081	ENSP00000411638	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	12	122692368	T	A	ENST00000443649	ENSG00000184047	122692210	122712081	ENSP00000398495	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
15	12	122692368	T	A	ENST00000464942	ENSG00000184047	122692210	122712081	ENSP00000442360	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	12	122692543	C	T	ENST00000267169	ENSG00000184047	122692210	122712081	ENSP00000267169	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs116523967	0.0029	-	-	-	-	-	het	1
17	12	122692543	C	T	ENST00000342392	ENSG00000184047	122692210	122712081	ENSP00000339963	DIABLO	-1	-	-	-	3'_UTR	rs116523967	0.0029	-	-	-	-	-	het	1
18	12	122692543	C	T	ENST00000353548	ENSG00000184047	122692210	122712081	ENSP00000320343	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs116523967	0.0029	-	-	-	-	-	het	1
19	12	122692543	C	T	ENST00000413918	ENSG00000184047	122692210	122712081	ENSP00000411638	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs116523967	0.0029	-	-	-	-	-	het	1
20	12	122692543	C	T	ENST00000443649	ENSG00000184047	122692210	122712081	ENSP00000398495	DIABLO	-1	DBLOH_HUMAN	-	-	3'_UTR	rs116523967	0.0029	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding DIABLO 12:122692210..122712081 region Gbrowse