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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 COL11A1:

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
ENSG00000060718	COL11A1	1	0	38	ENSG00000060718	ENST00000370096	ENSP00000359114	collagen, type XI, alpha 1 [Source:HGNC Symbol;Acc:2186]	1	103342023	103574052	-1	p21.1	103342023	103574047	COL11A1	COL11A1-001	HGNC Symbol	HGNC transcript name	10	33.13	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1301	2186	COL11A1	NM_001854	27511

MSeqDR Master Exome Data Set M1: 583 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	1	103342253	C	T	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs139810625	0.0062	-	lod=563:646	-	-	-	het	2
2	1	103342253	C	T	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs139810625	0.0062	-	lod=563:646	-	-	-	het	2
3	1	103342253	C	T	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs139810625	0.0062	-	lod=563:646	-	-	-	het	2
4	1	103342284	C	T	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	lod=563:646	-	-	-	het	3
5	1	103342284	C	T	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	lod=563:646	-	-	-	het	3
6	1	103342284	C	T	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	lod=563:646	-	-	-	het	3
7	1	103342348	A	T	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	1	103342348	A	T	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
9	1	103342348	A	T	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	1	103342372	C	T	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs190577885	0.004	-	-	-	-	-	het	9
11	1	103342372	C	T	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs190577885	0.004	-	-	-	-	-	het	9
12	1	103342372	C	T	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs190577885	0.004	-	-	-	-	-	het	9
13	1	103342392	T	C	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	het	199
14	1	103342392	T	C	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	hom	35
15	1	103342392	T	C	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	het	199
16	1	103342392	T	C	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	hom	35
17	1	103342392	T	C	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	het	199
18	1	103342392	T	C	ENST00000370096	ENSG00000060718	103342023	103574052	ENSP00000359114	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs9659030	0.18898	-	lod=26:317	-	-	-	hom	35
19	1	103342470	G	A	ENST00000353414	ENSG00000060718	103342023	103574052	ENSP00000302551	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs12073619	0.1254	-	-	-	-	-	het	11
20	1	103342470	G	A	ENST00000358392	ENSG00000060718	103342023	103574052	ENSP00000351163	COL11A1	-1	COBA1_HUMAN	-	-	3'_UTR	rs12073619	0.1254	-	-	-	-	-	het	11

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding COL11A1 1:103342023..103574052 region Gbrowse