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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 BLNK:

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
ENSG00000095585	BLNK	0	0	0	ENSG00000095585	ENST00000371176	ENSP00000360218	B-cell linker [Source:HGNC Symbol;Acc:14211]	10	97951458	98031344	-1	q24.1	97951458	98031297	BLNK	BLNK-002	HGNC Symbol	HGNC transcript name	9	42.75	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	NOVEL	29760	14211	BLNK	NM_001114094	27525
ENSG00000262509	BLNK	0	0	0	ENSG00000262509	ENST00000574984	ENSP00000460444	B-cell linker [Source:HGNC Symbol;Acc:14211]	HG339_PATCH	97951459	98031303	-1	q24.1	97951459	98031297	BLNK	BLNK-002	HGNC Symbol	HGNC transcript name	7	42.74	protein_coding	protein_coding	havana	havana	KNOWN	NOVEL	29760	14211	BLNK		1000658985

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MSeqDR Master Exome Data Set M1: 156 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	10	97951458	T	C	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	10	97951458	T	C	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	10	97951468	T	C	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	rs150009263	0.0139	-	-	-	-	-	het	17
4	10	97951468	T	C	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	rs150009263	0.0139	-	-	-	-	-	het	17
5	10	97951468	T	C	ENST00000413476	ENSG00000095585	97951458	98031344	ENSP00000397487	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	rs150009263	0.0139	-	-	-	-	-	het	17
6	10	97951468	T	C	ENST00000427367	ENSG00000095585	97951458	98031344	ENSP00000391924	BLNK	-1	-	-	-	3'_UTR	rs150009263	0.0139	-	-	-	-	-	het	17
7	10	97951509	A	T	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
8	10	97951509	A	T	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	10	97951509	A	T	ENST00000413476	ENSG00000095585	97951458	98031344	ENSP00000397487	BLNK	-1	BLNK_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	10	97951509	A	T	ENST00000427367	ENSG00000095585	97951458	98031344	ENSP00000391924	BLNK	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
11	10	97956817	A	C	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	c.1098T>G	p.D366E	non-syn	NA	-	-	lod=757:678	DAMAGING	D	-	het	1
12	10	97956817	A	C	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	c.1029T>G	p.D343E	non-syn	NA	-	-	lod=757:678	DAMAGING	D	-	het	1
13	10	97956830	T	A	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	-	-	-11bp 3'_splice_site	rs74151283	0.0778	A=247/T=8343;A=458/T=3926;A=705/T=12269	-	-	-	-	het	47
14	10	97956830	T	A	ENST00000224337	ENSG00000095585	97951458	98031344	ENSP00000224337	BLNK	-1	BLNK_HUMAN	-	-	-11bp 3'_splice_site	rs74151283	0.0778	A=247/T=8343;A=458/T=3926;A=705/T=12269	-	-	-	-	hom	3
15	10	97956830	T	A	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	-	-	-11bp 3'_splice_site	rs74151283	0.0778	A=247/T=8343;A=458/T=3926;A=705/T=12269	-	-	-	-	het	47
16	10	97956830	T	A	ENST00000371176	ENSG00000095585	97951458	98031344	ENSP00000360218	BLNK	-1	BLNK_HUMAN	-	-	-11bp 3'_splice_site	rs74151283	0.0778	A=247/T=8343;A=458/T=3926;A=705/T=12269	-	-	-	-	hom	3
17	10	97959237	C	A	ENST00000427367	ENSG00000095585	97951458	98031344	ENSP00000391924	BLNK	-1	-	-	-	+2bp 5'_splice_site	rs80337218	0.0795	A=129/C=3809;A=128/C=1610;A=257/C=5419	-	-	-	-	hom	5
18	10	97959237	C	A	ENST00000427367	ENSG00000095585	97951458	98031344	ENSP00000391924	BLNK	-1	-	-	-	+2bp 5'_splice_site	rs80337218	0.0795	A=129/C=3809;A=128/C=1610;A=257/C=5419	-	-	-	-	het	72
19	10	97959763	G	-CA	ENST00000485193	ENSG00000095585	97951458	98031344	-	BLNK	-1	-	c.582_583del	p.A195NA	non-syn	NA	-	-	-	-	-	-	het	1
20	10	97959763	G	-CAT	ENST00000485193	ENSG00000095585	97951458	98031344	-	BLNK	-1	-	c.581_583del	p.A195NA	non-syn	rs112074351	-	-	-	-	-	-	het	30

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Transcripts and variants in the surrounding BLNK 10:97951458..98031344 region Gbrowse