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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 FHL1:

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
ENSG00000022267	FHL1	0	0	21	ENSG00000022267	ENST00000370683	ENSP00000359717	four and a half LIM domains 1 [Source:HGNC Symbol;Acc:3702]	X	135229559	135293518	1	q26.3	135278932	135293518	FHL1	FHL1-004	HGNC Symbol	HGNC transcript name	18	41.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	2273	3702	FHL1	NM_001159699	27516

MSeqDR Master Exome Data Set M1: 255 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	135278916	G	T	ENST00000539015	ENSG00000022267	135229559	135293518	ENSP00000437673	FHL1	1	FHL1_HUMAN	-	-	5'_UTR	NA	-	-	lod=59:405	-	-	-	hom	1
2	X	135288752	C	T	ENST00000345434	ENSG00000022267	135229559	135293518	ENSP00000071281	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
3	X	135288752	C	T	ENST00000345434	ENSG00000022267	135229559	135293518	ENSP00000071281	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
4	X	135288752	C	T	ENST00000370674	ENSG00000022267	135229559	135293518	ENSP00000359708	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
5	X	135288752	C	T	ENST00000370674	ENSG00000022267	135229559	135293518	ENSP00000359708	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
6	X	135288752	C	T	ENST00000370676	ENSG00000022267	135229559	135293518	ENSP00000359710	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
7	X	135288752	C	T	ENST00000370676	ENSG00000022267	135229559	135293518	ENSP00000359710	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
8	X	135288752	C	T	ENST00000370683	ENSG00000022267	135229559	135293518	ENSP00000359717	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
9	X	135288752	C	T	ENST00000370683	ENSG00000022267	135229559	135293518	ENSP00000359717	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
10	X	135288752	C	T	ENST00000370690	ENSG00000022267	135229559	135293518	ENSP00000359724	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
11	X	135288752	C	T	ENST00000370690	ENSG00000022267	135229559	135293518	ENSP00000359724	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
12	X	135288752	C	T	ENST00000394153	ENSG00000022267	135229559	135293518	ENSP00000377709	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
13	X	135288752	C	T	ENST00000394153	ENSG00000022267	135229559	135293518	ENSP00000377709	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
14	X	135288752	C	T	ENST00000394155	ENSG00000022267	135229559	135293518	ENSP00000377710	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
15	X	135288752	C	T	ENST00000394155	ENSG00000022267	135229559	135293518	ENSP00000377710	FHL1	1	FHL1_HUMAN	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
16	X	135288752	C	T	ENST00000420362	ENSG00000022267	135229559	135293518	ENSP00000391779	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
17	X	135288752	C	T	ENST00000420362	ENSG00000022267	135229559	135293518	ENSP00000391779	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
18	X	135288752	C	T	ENST00000434885	ENSG00000022267	135229559	135293518	ENSP00000413798	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1
19	X	135288752	C	T	ENST00000434885	ENSG00000022267	135229559	135293518	ENSP00000413798	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	het	2
20	X	135288752	C	T	ENST00000449474	ENSG00000022267	135229559	135293518	ENSP00000414604	FHL1	1	-	-	-	+5bp 5'_splice_site	rs182106777	0.0143	T=0/C=6728;T=70/C=3765;T=70/C=10493	-	-	-	-	hom	1

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Transcripts and variants in the surrounding FHL1 X:135229559..135293518 region Gbrowse