MSeqDR Central Portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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 CIITA:

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
ENSG00000179583	CIITA	0	0	30	ENSG00000179583	ENST00000324288	ENSP00000316328	class II, major histocompatibility complex, transactivator [Source:HGNC Symbol;Acc:7067]	16	10971055	11026079	1	p13.13	10971055	11023624	CIITA	CIITA-001	HGNC Symbol	HGNC transcript name	11	50.02	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	4261	7067	CIITA	NM_000246	27514

MSeqDR Master Exome Data Set M1: 344 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	16	10971104	C	T	ENST00000324288	ENSG00000179583	10971055	11026079	ENSP00000316328	CIITA	1	C2TA_HUMAN	-	-	5'_UTR	rs45519531	0.0081	-	-	-	-	-	het	37
2	16	10971104	C	T	ENST00000381835	ENSG00000179583	10971055	11026079	ENSP00000371257	CIITA	1	-	-	-	5'_UTR	rs45519531	0.0081	-	-	-	-	-	het	37
3	16	10971104	C	T	ENST00000570546	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.38C>T	p.S13F	non-syn	rs45519531	0.0081	-	-	-	-	-	het	37
4	16	10971104	C	T	ENST00000571186	ENSG00000179583	10971055	11026079	ENSP00000459829	CIITA	1	-	-	-	5'_UTR	rs45519531	0.0081	-	-	-	-	-	het	37
5	16	10971104	C	T	ENST00000573309	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.32C>T	p.S11F	non-syn	rs45519531	0.0081	-	-	-	-	-	het	37
6	16	10971142	G	A	ENST00000324288	ENSG00000179583	10971055	11026079	ENSP00000316328	CIITA	1	C2TA_HUMAN	-	-	5'_UTR	rs115659359	0.0204	A=1/G=8599;A=154/G=4240;A=155/G=12839	-	-	-	-	het	2
7	16	10971142	G	A	ENST00000381835	ENSG00000179583	10971055	11026079	ENSP00000371257	CIITA	1	-	-	-	5'_UTR	rs115659359	0.0204	A=1/G=8599;A=154/G=4240;A=155/G=12839	-	-	-	-	het	2
8	16	10971142	G	A	ENST00000570546	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.76G>A	p.G26S	non-syn	rs115659359	0.0204	A=1/G=8599;A=154/G=4240;A=155/G=12839	-	-	-	-	het	2
9	16	10971142	G	A	ENST00000571186	ENSG00000179583	10971055	11026079	ENSP00000459829	CIITA	1	-	-	-	5'_UTR	rs115659359	0.0204	A=1/G=8599;A=154/G=4240;A=155/G=12839	-	-	-	-	het	2
10	16	10971142	G	A	ENST00000573309	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.70G>A	p.G24S	non-syn	rs115659359	0.0204	A=1/G=8599;A=154/G=4240;A=155/G=12839	-	-	-	-	het	2
11	16	10971231	A	G	ENST00000324288	ENSG00000179583	10971055	11026079	ENSP00000316328	CIITA	1	C2TA_HUMAN	c.44A>G	p.E15G	non-syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
12	16	10971231	A	G	ENST00000381835	ENSG00000179583	10971055	11026079	ENSP00000371257	CIITA	1	-	c.44A>G	p.E15G	non-syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
13	16	10971231	A	G	ENST00000537380	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.44A>G	p.E15G	non-syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
14	16	10971231	A	G	ENST00000570546	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.165A>G	p.R55R	syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
15	16	10971231	A	G	ENST00000571186	ENSG00000179583	10971055	11026079	ENSP00000459829	CIITA	1	-	c.44A>G	p.E15G	non-syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
16	16	10971231	A	G	ENST00000573309	ENSG00000179583	10971055	11026079	-	CIITA	1	-	c.159A>G	p.R53R	syn	NA	-	-	lod=29:329	DAMAGING	B	-	het	1
17	16	10971248	G	A	ENST00000324288	ENSG00000179583	10971055	11026079	ENSP00000316328	CIITA	1	C2TA_HUMAN	-	-	+9bp 5'_splice_site	rs199476060	-	-	-	-	-	-	het	1
18	16	10971248	G	A	ENST00000381835	ENSG00000179583	10971055	11026079	ENSP00000371257	CIITA	1	-	-	-	+9bp 5'_splice_site	rs199476060	-	-	-	-	-	-	het	1
19	16	10971248	G	A	ENST00000537380	ENSG00000179583	10971055	11026079	-	CIITA	1	-	-	-	+9bp 5'_splice_site	rs199476060	-	-	-	-	-	-	het	1
20	16	10971248	G	A	ENST00000570546	ENSG00000179583	10971055	11026079	-	CIITA	1	-	-	-	+9bp 5'_splice_site	rs199476060	-	-	-	-	-	-	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.

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 CIITA 16:10971055..11026079 region Gbrowse