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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 ITIH4:

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
ENSG00000055955	ITIH4	0	0	0	ENSG00000055955	ENST00000537897		inter-alpha-trypsin inhibitor heavy chain family, member 4 [Source:HGNC Symbol;Acc:6169]	3	52846991	52865495	-1	p21.1	52852542	52864704	ITIH4	ITIH4-019	HGNC Symbol	HGNC transcript name	17	55.65	protein_coding	retained_intron	ensembl_hava	havana	KNOWN	KNOWN	3700	6169	ITIH4		27517

MSeqDR Master Exome Data Set M1: 699 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	3	52847006	T	-G	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
2	3	52847006	T	-G	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
3	3	52847006	T	-G	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
4	3	52847006	T	-G	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
5	3	52847230	C	T	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs117681659	0.0155	-	-	-	-	-	hom	1
6	3	52847230	C	T	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs117681659	0.0155	-	-	-	-	-	het	16
7	3	52847230	C	T	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs117681659	0.0155	-	-	-	-	-	hom	1
8	3	52847230	C	T	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs117681659	0.0155	-	-	-	-	-	het	16
9	3	52847250	C	T	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
10	3	52847250	C	T	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
11	3	52847250	C	T	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
12	3	52847250	C	T	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
13	3	52847415	G	A	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
14	3	52847415	G	A	ENST00000346281	ENSG00000055955	52846991	52865495	ENSP00000340520	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
15	3	52847415	G	A	ENST00000406595	ENSG00000055955	52846991	52865495	ENSP00000384425	ITIH4	-1	ITIH4_HUMAN	-	-	3'_UTR	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
16	3	52847415	G	A	ENST00000441637	ENSG00000055955	52846991	52865495	ENSP00000395634	ITIH4	-1	-	-	-	3'_UTR	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
17	3	52847415	G	A	ENST00000464000	ENSG00000055955	52846991	52865495	-	ITIH4	-1	-	c.330C>T	p.A110A	syn	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
18	3	52847415	G	A	ENST00000485816	ENSG00000055955	52846991	52865495	ENSP00000417824	ITIH4	-1	-	-	-	3'_UTR	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
19	3	52847415	G	A	ENST00000491663	ENSG00000055955	52846991	52865495	-	ITIH4	-1	-	c.3007C>T	p.P1003S	non-syn	rs13326974	0.0177	A=1/G=8599;A=78/G=4328;A=79/G=12927	-	-	-	-	het	3
20	3	52847473	C	T	ENST00000266041	ENSG00000055955	52846991	52865495	ENSP00000266041	ITIH4	-1	ITIH4_HUMAN	c.2757G>A	p.P919P	syn	rs78780447	0.01172	T=177/C=8423;T=14/C=4392;T=191/C=12815	-	-	-	-	het	28

** 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.

As MSeqDR registered user , your accessible protected data set after login:

Select a dataset from the above drop-down list,
**click here to view variant details for this gene in selected data set**,
and click "Export" button to save as csv.

Transcripts and variants in the surrounding ITIH4 3:52846991..52865495 region Gbrowse