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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 C14orf2:

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
ENSG00000156411	C14orf2	1	0	0	ENSG00000156411	ENST00000286953	ENSP00000286953	chromosome 14 open reading frame 2 [Source:HGNC Symbol;Acc:1188]	14	104378625	104394606	-1	q32.33	104378625	104387894	C14orf2	C14orf2-001	HGNC Symbol	HGNC transcript name	12	47.77	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	9556	1188	C14orf2	NM_004894	27520

MSeqDR Master Exome Data Set M1: 181 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	104378765	C	T	ENST00000286953	ENSG00000156411	104378625	104394606	ENSP00000286953	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	het	19
2	14	104378765	C	T	ENST00000286953	ENSG00000156411	104378625	104394606	ENSP00000286953	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	hom	1
3	14	104378765	C	T	ENST00000414262	ENSG00000156411	104378625	104394606	ENSP00000401770	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	het	19
4	14	104378765	C	T	ENST00000414262	ENSG00000156411	104378625	104394606	ENSP00000401770	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	hom	1
5	14	104378765	C	T	ENST00000554880	ENSG00000156411	104378625	104394606	ENSP00000452133	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	het	19
6	14	104378765	C	T	ENST00000554880	ENSG00000156411	104378625	104394606	ENSP00000452133	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	hom	1
7	14	104378765	C	T	ENST00000555030	ENSG00000156411	104378625	104394606	ENSP00000452186	C14orf2	-1	-	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	het	19
8	14	104378765	C	T	ENST00000555030	ENSG00000156411	104378625	104394606	ENSP00000452186	C14orf2	-1	-	-	-	3'_UTR	rs56817754	0.1212	-	-	-	-	-	hom	1
9	14	104378769	G	C	ENST00000286953	ENSG00000156411	104378625	104394606	ENSP00000286953	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
10	14	104378769	G	C	ENST00000414262	ENSG00000156411	104378625	104394606	ENSP00000401770	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	14	104378769	G	C	ENST00000554880	ENSG00000156411	104378625	104394606	ENSP00000452133	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
12	14	104378769	G	C	ENST00000555030	ENSG00000156411	104378625	104394606	ENSP00000452186	C14orf2	-1	-	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	14	104378852	G	A	ENST00000286953	ENSG00000156411	104378625	104394606	ENSP00000286953	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	het	192
14	14	104378852	G	A	ENST00000286953	ENSG00000156411	104378625	104394606	ENSP00000286953	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	hom	12
15	14	104378852	G	A	ENST00000414262	ENSG00000156411	104378625	104394606	ENSP00000401770	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	het	192
16	14	104378852	G	A	ENST00000414262	ENSG00000156411	104378625	104394606	ENSP00000401770	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	hom	12
17	14	104378852	G	A	ENST00000553430	ENSG00000156411	104378625	104394606	ENSP00000452462	C14orf2	-1	-	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	het	192
18	14	104378852	G	A	ENST00000553430	ENSG00000156411	104378625	104394606	ENSP00000452462	C14orf2	-1	-	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	hom	12
19	14	104378852	G	A	ENST00000554880	ENSG00000156411	104378625	104394606	ENSP00000452133	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	het	192
20	14	104378852	G	A	ENST00000554880	ENSG00000156411	104378625	104394606	ENSP00000452133	C14orf2	-1	68MP_HUMAN	-	-	3'_UTR	rs8095	0.11364	-	-	-	-	-	hom	12

** 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.

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Select a dataset from the above drop-down list,
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Transcripts and variants in the surrounding C14orf2 14:104378625..104394606 region Gbrowse