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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 MIP:

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
ENSG00000135517	MIP	0	0	5	ENSG00000135517	ENST00000257979	ENSP00000257979	major intrinsic protein of lens fiber [Source:HGNC Symbol;Acc:7103]	12	56843286	56862950	-1	q13.3	56843286	56848426	MIP	MIP-001	HGNC Symbol	HGNC transcript name	2	46.66	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4284	7103	MIP	NM_012064	27519

MSeqDR Master Exome Data Set M1: 34 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	56843825	C	+AA	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
2	12	56843825	C	+A	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs111463603	-	-	-	-	-	-	het	163
3	12	56843825	C	+A	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs111463603	-	-	-	-	-	-	hom	28
4	12	56843893	G	T	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs2371455	0.36866	-	-	-	-	-	het	86
5	12	56843893	G	T	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs2371455	0.36866	-	-	-	-	-	hom	25
6	12	56844300	G	-AA	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs3840772	-	-	lod=17:272	-	-	-	het	6
7	12	56844349	C	T	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs3809125	0.35688	-	lod=92:452	-	-	-	het	84
8	12	56844349	C	T	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs3809125	0.35688	-	lod=92:452	-	-	-	hom	24
9	12	56844559	A	G	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs774053	0.92193	-	-	-	-	-	het	30
10	12	56844559	A	G	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs774053	0.92193	-	-	-	-	-	hom	160
11	12	56844780	A	G	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs148601602	0.00847	-	lod=215:543	-	-	-	het	13
12	12	56844915	G	-AAA	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs76109752	-	-	lod=215:543	-	-	-	het	1
13	12	56844915	G	-AA	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	NA	-	-	lod=215:543	-	-	-	het	36
14	12	56844915	G	+A	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs35639464	-	-	lod=215:543	-	-	-	het	6
15	12	56844915	G	-A	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs71081362	-	-	lod=215:543	-	-	-	hom	1
16	12	56844915	G	-A	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs71081362	-	-	lod=215:543	-	-	-	het	108
17	12	56844931	A	-C	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
18	12	56844931	A	-C	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
19	12	56844970	A	C	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs2935008	0.99535	-	lod=129:489	-	-	-	het	4
20	12	56844970	A	C	ENST00000257979	ENSG00000135517	56843286	56862950	ENSP00000257979	MIP	-1	MIP_HUMAN	-	-	3'_UTR	rs2935008	0.99535	-	lod=129:489	-	-	-	hom	482

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Transcripts and variants in the surrounding MIP 12:56843286..56862950 region Gbrowse