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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 SH3TC2:

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
ENSG00000169247	SH3TC2	0	0	64	ENSG00000169247	ENST00000512049	ENSP00000421860	SH3 domain and tetratricopeptide repeats 2 [Source:HGNC Symbol;Acc:29427]	5	148303202	148442726	-1	q32	148384185	148442652	SH3TC2	SH3TC2-005	HGNC Symbol	HGNC transcript name	17	42.51	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	79628	29427	SH3TC2		27527

MSeqDR Master Exome Data Set M1: 763 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	5	148381846	G	A	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs149384180	0.0806	-	-	-	-	-	het	7
2	5	148381846	G	A	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs149384180	0.0806	-	-	-	-	-	hom	1
3	5	148381877	C	T	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs17722155	0.12	-	-	-	-	-	hom	1
4	5	148381877	C	T	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs17722155	0.12	-	-	-	-	-	het	7
5	5	148382965	G	A	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs1007401	0.17181	-	-	-	-	-	het	1
6	5	148383345	C	G	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs1432798	0.4749	-	-	-	-	-	het	101
7	5	148383345	C	G	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	rs1432798	0.4749	-	-	-	-	-	hom	20
8	5	148383345	C	G	ENST00000504690	ENSG00000169247	148303202	148442726	ENSP00000425627	SH3TC2	-1	-	c.3736G>C	p.D1246H	non-syn	rs1432798	0.4749	-	-	-	-	-	het	101
9	5	148383345	C	G	ENST00000504690	ENSG00000169247	148303202	148442726	ENSP00000425627	SH3TC2	-1	-	c.3736G>C	p.D1246H	non-syn	rs1432798	0.4749	-	-	-	-	-	hom	20
10	5	148383345	C	G	ENST00000515229	ENSG00000169247	148303202	148442726	-	SH3TC2	-1	-	c.398G>C	p.R133T	non-syn	rs1432798	0.4749	-	-	-	-	-	het	101
11	5	148383345	C	G	ENST00000515229	ENSG00000169247	148303202	148442726	-	SH3TC2	-1	-	c.398G>C	p.R133T	non-syn	rs1432798	0.4749	-	-	-	-	-	hom	20
12	5	148383378	A	C	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	5	148383378	A	C	ENST00000504690	ENSG00000169247	148303202	148442726	ENSP00000425627	SH3TC2	-1	-	c.3703T>G	p.S1235A	non-syn	NA	-	-	-	-	-	-	het	1
14	5	148383378	A	C	ENST00000515229	ENSG00000169247	148303202	148442726	-	SH3TC2	-1	-	c.365T>G	p.F122C	non-syn	NA	-	-	-	-	-	-	het	1
15	5	148383406	C	+T	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	5	148383406	C	+T	ENST00000504690	ENSG00000169247	148303202	148442726	ENSP00000425627	SH3TC2	-1	-	-	-	-1bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
17	5	148383406	C	+T	ENST00000515229	ENSG00000169247	148303202	148442726	-	SH3TC2	-1	-	-	-	-1bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
18	5	148383412	C	+A	ENST00000323829	ENSG00000169247	148303202	148442726	ENSP00000313025	SH3TC2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
19	5	148383412	C	+A	ENST00000504690	ENSG00000169247	148303202	148442726	ENSP00000425627	SH3TC2	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	1
20	5	148383412	C	+A	ENST00000515229	ENSG00000169247	148303202	148442726	-	SH3TC2	-1	-	-	-	-7bp 3'_splice_site	NA	-	-	-	-	-	-	het	1

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Transcripts and variants in the surrounding SH3TC2 5:148303202..148442726 region Gbrowse