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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 AFF2:

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
ENSG00000269754	AFF2	0	0	30	ENSG00000269754	ENST00000595230	ENSP00000472279	AF4/FMR2 family, member 2 [Source:HGNC Symbol;Acc:3776]	HG1459_PATCH	147582336	148082384	1	q28	147582336	148082384	AFF2	AFF2-001	HGNC Symbol	HGNC transcript name	5	38.84	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2334	3776	AFF2		0
ENSG00000155966	AFF2	0	0	30	ENSG00000155966	ENST00000370460	ENSP00000359489	AF4/FMR2 family, member 2 [Source:HGNC Symbol;Acc:3776]	X	147582139	148082193	1	q28	147582139	148082193	AFF2	AFF2-001	HGNC Symbol	HGNC transcript name	5	38.84	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2334	3776	AFF2	NM_002025	27516

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MSeqDR Master Exome Data Set M1: 527 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	X	147582516	G	C	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	X	147582516	G	C	ENST00000370457	ENSG00000155966	147582139	148082193	ENSP00000359486	AFF2	1	AFF2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
3	X	147582516	G	C	ENST00000370460	ENSG00000155966	147582139	148082193	ENSP00000359489	AFF2	1	AFF2_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
4	X	147733566	C	T	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	het	2
5	X	147733566	C	T	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	hom	3
6	X	147733566	C	T	ENST00000370457	ENSG00000155966	147582139	148082193	ENSP00000359486	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	het	2
7	X	147733566	C	T	ENST00000370457	ENSG00000155966	147582139	148082193	ENSP00000359486	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	hom	3
8	X	147733566	C	T	ENST00000370458	ENSG00000155966	147582139	148082193	ENSP00000359487	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	het	2
9	X	147733566	C	T	ENST00000370458	ENSG00000155966	147582139	148082193	ENSP00000359487	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	hom	3
10	X	147733566	C	T	ENST00000370460	ENSG00000155966	147582139	148082193	ENSP00000359489	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	het	2
11	X	147733566	C	T	ENST00000370460	ENSG00000155966	147582139	148082193	ENSP00000359489	AFF2	1	AFF2_HUMAN	c.94C>T	p.R32W	non-syn	rs143135907	-	T=0/C=6728;T=1/C=3834;T=1/C=10562	lod=254:561	DAMAGING	D	-	hom	3
12	X	147743744	C	T	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	het	1
13	X	147743744	C	T	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	hom	1
14	X	147743744	C	T	ENST00000370457	ENSG00000155966	147582139	148082193	ENSP00000359486	AFF2	1	AFF2_HUMAN	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	het	1
15	X	147743744	C	T	ENST00000370457	ENSG00000155966	147582139	148082193	ENSP00000359486	AFF2	1	AFF2_HUMAN	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	hom	1
16	X	147743744	C	T	ENST00000370458	ENSG00000155966	147582139	148082193	ENSP00000359487	AFF2	1	AFF2_HUMAN	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	het	1
17	X	147743744	C	T	ENST00000370458	ENSG00000155966	147582139	148082193	ENSP00000359487	AFF2	1	AFF2_HUMAN	c.484C>T	p.P162S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	hom	1
18	X	147743744	C	T	ENST00000370460	ENSG00000155966	147582139	148082193	ENSP00000359489	AFF2	1	AFF2_HUMAN	c.496C>T	p.P166S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	het	1
19	X	147743744	C	T	ENST00000370460	ENSG00000155966	147582139	148082193	ENSP00000359489	AFF2	1	AFF2_HUMAN	c.496C>T	p.P166S	non-syn	rs150996735	-	T=11/C=6717;T=0/C=3835;T=11/C=10552	-	TOLERATED	B	-	hom	1
20	X	147744159	C	G	ENST00000342251	ENSG00000155966	147582139	148082193	ENSP00000345459	AFF2	1	-	c.899C>G	p.T300R	non-syn	NA	-	-	lod=61:409	TOLERATED	D	-	het	1

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Transcripts and variants in the surrounding AFF2 X:147582139..148082193 region Gbrowse