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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 RFXAP:

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
ENSG00000133111	RFXAP	0	0	0	ENSG00000133111	ENST00000255476	ENSP00000255476	regulatory factor X-associated protein [Source:HGNC Symbol;Acc:9988]	13	37393361	37403241	1	q13.3	37393361	37403241	RFXAP	RFXAP-001	HGNC Symbol	HGNC transcript name	2	38.45	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	5994	9988	RFXAP	NM_000538	27513

MSeqDR Master Exome Data Set M1: 31 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	13	37393394	T	G	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	13	37393420	T	C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	hom	1
3	13	37393518	G	A	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.24G>A	p.E8E	syn	NA	-	-	-	-	-	-	het	2
4	13	37393781	C	A	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.287C>A	p.S96*	non-syn	NA	-	-	lod=211:541	DAMAGING	NA	-	het	4
5	13	37393806	C	T	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.312C>T	p.S104S	syn	NA	-	T=2/C=7872;T=0/C=4004;T=2/C=11876	lod=211:541	-	-	-	het	4
6	13	37393904	T	C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.410T>C	p.M137T	non-syn	rs193240312	0.0102	C=150/T=8392;C=8/T=4368;C=158/T=12760	lod=774:680	TOLERATED	B	-	het	30
7	13	37399630	A	G	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.666A>G	p.A222A	syn	rs139675642	-	G=13/A=8587;G=0/A=4406;G=13/A=12993	lod=397:609	-	-	-	het	7
8	13	37399630	A	G	ENST00000472888	ENSG00000133111	37393361	37403241	-	RFXAP	1	-	c.68A>G	p.Q23R	non-syn	rs139675642	-	G=13/A=8587;G=0/A=4406;G=13/A=12993	lod=397:609	-	-	-	het	7
9	13	37401827	A	G	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	c.756A>G	p.Q252Q	syn	rs141918438	0.0087	G=0/A=8600;G=6/A=4400;G=6/A=13000	lod=261:564	-	-	-	het	2
10	13	37401827	A	G	ENST00000472888	ENSG00000133111	37393361	37403241	-	RFXAP	1	-	c.158A>G	p.N53S	non-syn	rs141918438	0.0087	G=0/A=8600;G=6/A=4400;G=6/A=13000	lod=261:564	-	-	-	het	2
11	13	37401917	G	-T	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs11285105	-	-	-	-	-	-	hom	753
12	13	37401917	G	-T	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs11285105	-	-	-	-	-	-	het	209
13	13	37401945	A	G	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs7321405	0.0549	-	lod=16:265	-	-	-	het	5
14	13	37401956	C	T	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
15	13	37402293	T	C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	13	37402362	C	T	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs150569371	0.00367	-	-	-	-	-	het	7
17	13	37402369	G	A	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs117112761	0.00092	-	-	-	-	-	het	1
18	13	37402440	T	C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs9547679	0.89526	-	-	-	-	-	het	115
19	13	37402440	T	C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	rs9547679	0.89526	-	-	-	-	-	hom	532
20	13	37402581	G	+C	ENST00000255476	ENSG00000133111	37393361	37403241	ENSP00000255476	RFXAP	1	RFXAP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	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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Transcripts and variants in the surrounding RFXAP 13:37393361..37403241 region Gbrowse