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 KCTD1:

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
ENSG00000134504	KCTD1	0	0	8	ENSG00000134504	ENST00000579973	ENSP00000464170	potassium channel tetramerization domain containing 1 [Source:HGNC Symbol;Acc:18249]	18	24034874	24237365	-1	q11.2	24034874	24220308	KCTD1	KCTD1-001	HGNC Symbol	HGNC transcript name	11	42.61	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	KNOWN	284252	18249	KCTD1	NM_198991	27512

MSeqDR Master Exome Data Set M1: 209 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	18	24034910	A	+C	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
2	18	24034910	A	+C	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	22
3	18	24034910	A	+C	ENST00000417602	ENSG00000134504	24034874	24237365	ENSP00000408405	KCTD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
4	18	24034910	A	+C	ENST00000417602	ENSG00000134504	24034874	24237365	ENSP00000408405	KCTD1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	22
5	18	24034910	A	+C	ENST00000579973	ENSG00000134504	24034874	24237365	ENSP00000464170	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
6	18	24034910	A	+C	ENST00000579973	ENSG00000134504	24034874	24237365	ENSP00000464170	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	22
7	18	24035029	C	T	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	3
8	18	24035029	C	T	ENST00000408011	ENSG00000134504	24034874	24237365	ENSP00000384367	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	3
9	18	24035029	C	T	ENST00000417602	ENSG00000134504	24034874	24237365	ENSP00000408405	KCTD1	-1	-	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	3
10	18	24035029	C	T	ENST00000579973	ENSG00000134504	24034874	24237365	ENSP00000464170	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	3
11	18	24035074	C	-AAAGT	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	rs201392022	-	-	lod=680:666	-	-	-	het	1
12	18	24035074	C	-AAAGT	ENST00000408011	ENSG00000134504	24034874	24237365	ENSP00000384367	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	rs201392022	-	-	lod=680:666	-	-	-	het	1
13	18	24035074	C	-AAAGT	ENST00000417602	ENSG00000134504	24034874	24237365	ENSP00000408405	KCTD1	-1	-	-	-	3'_UTR	rs201392022	-	-	lod=680:666	-	-	-	het	1
14	18	24035074	C	-AAAGT	ENST00000579973	ENSG00000134504	24034874	24237365	ENSP00000464170	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	rs201392022	-	-	lod=680:666	-	-	-	het	1
15	18	24035074	C	-AA	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	2
16	18	24035074	C	-AA	ENST00000408011	ENSG00000134504	24034874	24237365	ENSP00000384367	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	2
17	18	24035074	C	-AA	ENST00000417602	ENSG00000134504	24034874	24237365	ENSP00000408405	KCTD1	-1	-	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	2
18	18	24035074	C	-AA	ENST00000579973	ENSG00000134504	24034874	24237365	ENSP00000464170	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=680:666	-	-	-	het	2
19	18	24035183	T	+GAA	ENST00000317932	ENSG00000134504	24034874	24237365	ENSP00000314831	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=38:358	-	-	-	het	2
20	18	24035183	T	+GAA	ENST00000408011	ENSG00000134504	24034874	24237365	ENSP00000384367	KCTD1	-1	KCTD1_HUMAN	-	-	3'_UTR	NA	-	-	lod=38:358	-	-	-	het	2

** 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 KCTD1 18:24034874..24237365 region Gbrowse