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 CCDC88C:

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
ENSG00000015133	CCDC88C	0	0	37	ENSG00000015133	ENST00000556726	ENSP00000452406	coiled-coil domain containing 88C [Source:HGNC Symbol;Acc:19967]	14	91737667	91884188	-1	q32.11	91737667	91755675	CCDC88C	CCDC88C-005	HGNC Symbol	HGNC transcript name	14	51.25	protein_coding	nonsense_mediated_decay	ensembl_hava	havana	KNOWN	KNOWN	440193	19967	CCDC88C		27520

MSeqDR Master Exome Data Set M1: 404 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	14	91737825	T	-A	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
2	14	91737825	T	-A	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
3	14	91737987	A	T	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs147815575	0.00469	-	-	-	-	-	het	4
4	14	91737987	A	T	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs147815575	0.00469	-	-	-	-	-	het	4
5	14	91738119	A	-T	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
6	14	91738119	A	-T	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
7	14	91738156	G	A	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs76755219	0.1461	-	-	-	-	-	het	4
8	14	91738156	G	A	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs76755219	0.1461	-	-	-	-	-	het	4
9	14	91738284	G	A	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	14	91738284	G	A	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	14	91738425	C	T	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs45597931	0.01383	-	-	-	-	-	het	17
12	14	91738425	C	T	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs45597931	0.01383	-	-	-	-	-	het	17
13	14	91738577	A	G	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs11624871	0.8541	-	-	-	-	-	het	31
14	14	91738577	A	G	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs11624871	0.8541	-	-	-	-	-	hom	155
15	14	91738577	A	G	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs11624871	0.8541	-	-	-	-	-	het	31
16	14	91738577	A	G	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs11624871	0.8541	-	-	-	-	-	hom	155
17	14	91738696	T	G	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs12878426	0.83365	-	-	-	-	-	hom	181
18	14	91738696	T	G	ENST00000389857	ENSG00000015133	91737667	91884188	ENSP00000374507	CCDC88C	-1	DAPLE_HUMAN	-	-	3'_UTR	rs12878426	0.83365	-	-	-	-	-	het	48
19	14	91738696	T	G	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs12878426	0.83365	-	-	-	-	-	hom	181
20	14	91738696	T	G	ENST00000556726	ENSG00000015133	91737667	91884188	ENSP00000452406	CCDC88C	-1	-	-	-	3'_UTR	rs12878426	0.83365	-	-	-	-	-	het	48

** 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 CCDC88C 14:91737667..91884188 region Gbrowse