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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 HEPACAM:

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
ENSG00000165478	HEPACAM	0	0	8	ENSG00000165478	ENST00000298251	ENSP00000298251	hepatic and glial cell adhesion molecule [Source:HGNC Symbol;Acc:26361]	11	124789089	124806308	-1	q24.2	124789089	124806308	HEPACAM	HEPACAM-001	HGNC Symbol	HGNC transcript name	3	46.79	protein_coding	protein_coding	ensembl_hava	ensembl_hava	KNOWN	KNOWN	641654	26361	HEPACAM	NM_152722	27504

MSeqDR Master Exome Data Set M1: 78 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	11	124789182	G	C	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs112607377	0.00187	-	lod=102:463	-	-	-	het	4
2	11	124789232	A	+AAAC	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs141657865	-	-	-	-	-	-	het	178
3	11	124789232	A	+AAAC	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs141657865	-	-	-	-	-	-	hom	29
4	11	124789232	A	+AC	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	5
5	11	124789420	T	A	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs79225627	0.019	-	-	-	-	-	het	1
6	11	124789742	A	-AGG	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	3
7	11	124789755	T	C	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs3802904	0.67495	C=5822/T=2492;C=3438/T=516;C=9260/T=3008	-	-	B	-	hom	536
8	11	124789755	T	C	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs3802904	0.67495	C=5822/T=2492;C=3438/T=516;C=9260/T=3008	-	-	B	-	het	416
9	11	124789828	A	T	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs78859654	0.07333	T=728/A=7558;T=225/A=3603;T=953/A=11161	-	-	P	-	het	128
10	11	124789828	A	T	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs78859654	0.07333	T=728/A=7558;T=225/A=3603;T=953/A=11161	-	-	P	-	hom	7
11	11	124789851	C	T	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	G=1/C=8269;G=0/C=3822;G=1/C=12091	-	-	B	-	het	2
12	11	124789926	C	A	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
13	11	124789995	G	C	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
14	11	124790203	C	A	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs115556036	0.0113	-	-	-	-	-	het	2
15	11	124790405	C	T	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
16	11	124790562	A	C	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
17	11	124790572	T	-G	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	2
18	11	124790574	C	-A	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	rs71042463	-	-	-	-	-	-	hom	1
19	11	124790602	A	-AAAGT	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
20	11	124790606	G	-T	ENST00000298251	ENSG00000165478	124789089	124806308	ENSP00000298251	HEPACAM	-1	HECAM_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9

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Transcripts and variants in the surrounding HEPACAM 11:124789089..124806308 region Gbrowse