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 CHI3L1:

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
ENSG00000133048	CHI3L1	0	0	0	ENSG00000133048	ENST00000473185		chitinase 3-like 1 (cartilage glycoprotein-39) [Source:HGNC Symbol;Acc:1932]	1	203148059	203155877	-1	q32.1	203148059	203151262	CHI3L1	CHI3L1-002	HGNC Symbol	HGNC transcript name	5	54.78	protein_coding	retained_intron	ensembl_hava	ensembl_hava	KNOWN	KNOWN	1116	1932	CHI3L1		27511

MSeqDR Master Exome Data Set M1: 97 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	1	203148111	G	-T	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	5
2	1	203148111	G	-T	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	NA	-	-	lod=15:259	-	-	-	het	5
3	1	203148111	G	-T	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1867_1867del	p.T623NA	non-syn	NA	-	-	lod=15:259	-	-	-	het	5
4	1	203148168	G	A	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	rs114943381	0.0322	-	-	-	-	-	het	5
5	1	203148168	G	A	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	rs114943381	0.0322	-	-	-	-	-	hom	2
6	1	203148168	G	A	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	rs114943381	0.0322	-	-	-	-	-	het	5
7	1	203148168	G	A	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	rs114943381	0.0322	-	-	-	-	-	hom	2
8	1	203148168	G	A	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1811C>T	p.P604L	non-syn	rs114943381	0.0322	-	-	-	-	-	het	5
9	1	203148168	G	A	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1811C>T	p.P604L	non-syn	rs114943381	0.0322	-	-	-	-	-	hom	2
10	1	203148359	C	A	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	rs77111685	0.1095	-	-	-	-	-	het	8
11	1	203148359	C	A	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	rs77111685	0.1095	-	-	-	-	-	het	8
12	1	203148359	C	A	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1620G>T	p.S540S	syn	rs77111685	0.1095	-	-	-	-	-	het	8
13	1	203148359	C	A	ENST00000478742	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.728G>T	p.R243L	non-syn	rs77111685	0.1095	-	-	-	-	-	het	8
14	1	203148360	G	A	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	rs12408583	0.01772	-	-	-	-	-	het	32
15	1	203148360	G	A	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	rs12408583	0.01772	-	-	-	-	-	het	32
16	1	203148360	G	A	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1619C>T	p.S540L	non-syn	rs12408583	0.01772	-	-	-	-	-	het	32
17	1	203148360	G	A	ENST00000478742	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.727C>T	p.R243C	non-syn	rs12408583	0.01772	-	-	-	-	-	het	32
18	1	203148360	G	C	ENST00000255409	ENSG00000133048	203148059	203155877	ENSP00000255409	CHI3L1	-1	CH3L1_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
19	1	203148360	G	C	ENST00000404436	ENSG00000133048	203148059	203155877	ENSP00000385350	CHI3L1	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
20	1	203148360	G	C	ENST00000473185	ENSG00000133048	203148059	203155877	-	CHI3L1	-1	-	c.1619C>G	p.S540W	non-syn	NA	-	-	-	-	-	-	het	4

** 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 CHI3L1 1:203148059..203155877 region Gbrowse