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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 NRXN1:

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
ENSG00000179915	NRXN1	0	0	206	ENSG00000179915	ENST00000401669	ENSP00000385017	neurexin 1 [Source:HGNC Symbol;Acc:8008]	2	50145643	51259674	-1	p16.3	50148907	51259314	NRXN1	NRXN1-003	HGNC Symbol	HGNC transcript name	17	35.78	protein_coding	protein_coding	ensembl_hava	havana	KNOWN	NOVEL	9378	8008	NRXN1		27508

MSeqDR Master Exome Data Set M1: 774 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	2	50145690	A	+TTGTC	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
2	2	50145991	T	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
3	2	50146087	A	-AAAC	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	lod=896:696	-	-	-	het	18
4	2	50146236	C	-A	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	lod=325:587	-	-	-	het	1
5	2	50146247	A	G	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	lod=325:587	-	-	-	het	2
6	2	50146406	T	+CTAA	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	9
7	2	50146485	A	G	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
8	2	50146568	T	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	2
9	2	50146571	C	G	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	rs148938313	0.01188	-	-	-	-	-	het	14
10	2	50146607	A	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	1
11	2	50146697	T	-A	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	7
12	2	50146697	T	+A	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	4
13	2	50146892	T	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	lod=24:309	-	-	-	het	1
14	2	50147085	T	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	lod=89:449	-	-	-	het	3
15	2	50147148	T	C	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	rs140991724	0.0029	-	lod=20:289	-	-	-	het	2
16	2	50147171	C	A	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	rs11885824	0.3131	-	-	-	-	-	het	190
17	2	50147171	C	A	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	rs11885824	0.3131	-	-	-	-	-	hom	20
18	2	50147216	C	-TTCTCA	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	hom	1
19	2	50147216	C	-TTCTCA	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	NA	-	-	-	-	-	-	het	8
20	2	50147390	A	G	ENST00000342183	ENSG00000179915	50145643	51259674	ENSP00000341184	NRXN1	-1	NRX1B_HUMAN	-	-	3'_UTR	rs77838429	0.00869	-	-	-	-	-	het	29

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Transcripts and variants in the surrounding NRXN1 2:50145643..51259674 region Gbrowse