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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 HSD17B4:

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
ENSG00000133835	HSD17B4	1	24	43	ENSG00000133835	ENST00000505181		hydroxysteroid (17-beta) dehydrogenase 4 [Source:HGNC Symbol;Acc:5213]	5	118788138	118972894	1	q23.1	118812143	118824978	HSD17B4	HSD17B4-018	HGNC Symbol	HGNC transcript name	27	37.34	protein_coding	processed_transcript	ensembl_hava	havana	KNOWN	KNOWN	3295	5213	HSD17B4		27527

MSeqDR Master Exome Data Set M1: 631 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	118788141	C	T	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	1
2	5	118788152	C	G	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs11739468	-	-	-	-	-	-	het	2
3	5	118788196	C	A	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
4	5	118788196	C	A	ENST00000442060	ENSG00000133835	118788138	118972894	ENSP00000390208	HSD17B4	1	-	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
5	5	118788196	C	A	ENST00000511186	ENSG00000133835	118788138	118972894	-	HSD17B4	1	-	c.29C>A	p.P10H	non-syn	NA	-	-	-	-	-	-	het	5
6	5	118788196	C	A	ENST00000515320	ENSG00000133835	118788138	118972894	ENSP00000424613	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	NA	-	-	-	-	-	-	het	5
7	5	118788196	C	G	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	hom	198
8	5	118788196	C	G	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	het	417
9	5	118788196	C	G	ENST00000442060	ENSG00000133835	118788138	118972894	ENSP00000390208	HSD17B4	1	-	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	hom	198
10	5	118788196	C	G	ENST00000442060	ENSG00000133835	118788138	118972894	ENSP00000390208	HSD17B4	1	-	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	het	417
11	5	118788196	C	G	ENST00000511186	ENSG00000133835	118788138	118972894	-	HSD17B4	1	-	c.29C>G	p.P10R	non-syn	rs26180	0.5165	-	-	-	-	-	hom	198
12	5	118788196	C	G	ENST00000511186	ENSG00000133835	118788138	118972894	-	HSD17B4	1	-	c.29C>G	p.P10R	non-syn	rs26180	0.5165	-	-	-	-	-	het	417
13	5	118788196	C	G	ENST00000515320	ENSG00000133835	118788138	118972894	ENSP00000424613	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	hom	198
14	5	118788196	C	G	ENST00000515320	ENSG00000133835	118788138	118972894	ENSP00000424613	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs26180	0.5165	-	-	-	-	-	het	417
15	5	118788243	C	T	ENST00000256216	ENSG00000133835	118788138	118972894	ENSP00000256216	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	het	1
16	5	118788243	C	T	ENST00000442060	ENSG00000133835	118788138	118972894	ENSP00000390208	HSD17B4	1	-	-	-	5'_UTR	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	het	1
17	5	118788243	C	T	ENST00000510025	ENSG00000133835	118788138	118972894	ENSP00000424940	HSD17B4	1	-	-	-	5'_UTR	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	het	1
18	5	118788243	C	T	ENST00000511186	ENSG00000133835	118788138	118972894	-	HSD17B4	1	-	c.76C>T	p.R26C	non-syn	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	het	1
19	5	118788243	C	T	ENST00000515235	ENSG00000133835	118788138	118972894	-	HSD17B4	1	-	c.33C>T	p.F11F	syn	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	het	1
20	5	118788243	C	T	ENST00000515320	ENSG00000133835	118788138	118972894	ENSP00000424613	HSD17B4	1	DHB4_HUMAN	-	-	5'_UTR	rs34353289	0.002	T=0/C=8600;T=37/C=4367;T=37/C=12967	-	-	-	-	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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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding HSD17B4 5:118788138..118972894 region Gbrowse