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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 FAM20C:

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
ENSG00000177706	FAM20C	0	0	22	ENSG00000177706	ENST00000313766	ENSP00000322323	family with sequence similarity 20, member C [Source:HGNC Symbol;Acc:22140]	7	192969	300711	1	p22.3	192969	300711	FAM20C	FAM20C-001	HGNC Symbol	HGNC transcript name	5	60.17	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	56975	22140	FAM20C	NM_020223	27506

MSeqDR Master Exome Data Set M1: 207 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	7	193091	C	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	-	-	5'_UTR	rs116903250	0.0359	-	-	-	-	-	het	77
2	7	193091	C	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	-	-	5'_UTR	rs116903250	0.0359	-	-	-	-	-	hom	3
3	7	193245	G	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.46G>T	p.V16L	non-syn	rs150401144	0.0467	T=1/G=5243;T=93/G=2709;T=94/G=7952	lod=444:621	TOLERATED	-	-	het	2
4	7	193373	C	A	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.174C>A	p.P58P	syn	NA	-	-	lod=32:340	-	-	-	het	1
5	7	193399	C	A	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.200C>A	p.P67H	non-syn	NA	-	-	-	DAMAGING	-	-	het	2
6	7	193466	C	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.267C>T	p.R89R	syn	NA	-	-	lod=308:582	-	-	-	het	5
7	7	193625	C	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.426C>T	p.D142D	syn	NA	-	-	-	-	-	-	het	4
8	7	193703	G	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.504G>T	p.P168P	syn	NA	-	-	lod=85:444	-	-	-	het	3
9	7	195540	G	A	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	-	-	-14bp 3'_splice_site	NA	-	A=4/G=8370;A=2/G=4140;A=6/G=12510	-	-	-	-	het	4
10	7	195540	G	A	ENST00000477004	ENSG00000177706	192969	300711	-	FAM20C	1	-	-	-	-14bp 3'_splice_site	NA	-	A=4/G=8370;A=2/G=4140;A=6/G=12510	-	-	-	-	het	4
11	7	195562	C	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.614C>T	p.A205V	non-syn	NA	-	-	lod=20:289	TOLERATED	-	-	het	1
12	7	195562	C	T	ENST00000477004	ENSG00000177706	192969	300711	-	FAM20C	1	-	c.95C>T	p.A32V	non-syn	NA	-	-	lod=20:289	TOLERATED	-	-	het	1
13	7	195589	C	A	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.641C>A	p.S214Y	non-syn	rs201436002	-	-	lod=22:300	DAMAGING	-	-	het	1
14	7	195589	C	A	ENST00000477004	ENSG00000177706	192969	300711	-	FAM20C	1	-	c.122C>A	p.S41Y	non-syn	rs201436002	-	-	lod=22:300	DAMAGING	-	-	het	1
15	7	195594	G	A	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.646G>A	p.G216R	non-syn	rs61734970	0.0067	A=54/G=8288;A=2/G=4064;A=56/G=12352	lod=28:325	TOLERATED	-	-	het	9
16	7	195594	G	A	ENST00000477004	ENSG00000177706	192969	300711	-	FAM20C	1	-	c.127G>A	p.G43R	non-syn	rs61734970	0.0067	A=54/G=8288;A=2/G=4064;A=56/G=12352	lod=28:325	TOLERATED	-	-	het	9
17	7	195614	C	G	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	c.666C>G	p.S222S	syn	NA	-	-	lod=116:477	-	-	-	het	2
18	7	195614	C	G	ENST00000477004	ENSG00000177706	192969	300711	-	FAM20C	1	-	c.147C>G	p.S49S	syn	NA	-	-	lod=116:477	-	-	-	het	2
19	7	195751	A	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	-	-	+19bp 5'_splice_site	rs192542992	0.0495	T=3/A=8433;T=6/A=4160;T=9/A=12593	-	-	-	-	het	3
20	7	195751	A	T	ENST00000313766	ENSG00000177706	192969	300711	ENSP00000322323	FAM20C	1	DMP4_HUMAN	-	-	+19bp 5'_splice_site	rs192542992	0.0495	T=3/A=8433;T=6/A=4160;T=9/A=12593	-	-	-	-	hom	1

** A friendly reminder: guest user can access up to first 20 entries per gene from MSeqDR Master Exome Data Set M1. To gain access to the full power of MSeqDR, please login, or register, then request access to data.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding FAM20C 7:192969..300711 region Gbrowse