MSeqDR Central Portal

MSeqDR Data Summary for the Term ENSG00000164182:
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsEnsembl Gene IDEnsembl Transcript IDEnsembl Protein IDDescriptionChrGene StartGene EndStrandBandTranscript Start bpTranscript End bpAssociated Gene NameAssociated Transcript NameAssociated Gene DBAssociated Transcript DBTranscript countpct GC contentGene BiotypeTranscript BiotypeSource GeneSource TranscriptStatus geneStatus transcript EntrezGene IDHGNC IDHGNC SymbolRefSeq mRNASeq region id
ENSG00000164182 MSeqDR Search EnsemblNDUFAF212112ENSG00000164182ENST00000296597ENSP00000296597NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 [Source:HGNC Symbol;Acc:28086]560240956604488531q12.16024095660448853NDUFAF2NDUFAF2-001HGNC SymbolHGNC transcript name436.3protein_codingprotein_codingensembl_havaensembl_havaKNOWNKNOWN9194228086NDUFAF2NM_17488927527


MSeqDR Master Exome Data Set M1: 48 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1560240968GCENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs46470370.0355-----het5
2560240968GCENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs46470370.0355-----hom1
3560240986AGENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs1589220.8479-----het365
4560240986AGENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs1589220.8479-----hom418
5560240992CTENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs46470360.1487-----het12
6560240992CTENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs46470360.1487-----hom2
7560240996T-CENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRNA------het1
8560241050GAENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMAN--5'_UTRrs200299226------het5
9560241050GAENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21---5'_UTRrs200299226------het5
10560241142GAENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMANc.60G>Ap.K20Ksynrs1589210.8128-lod=56:399---het342
11560241142GAENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMANc.60G>Ap.K20Ksynrs1589210.8128-lod=56:399---hom336
12560241142GAENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21-c.60G>Ap.K20Ksynrs1589210.8128-lod=56:399---het342
13560241142GAENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21-c.60G>Ap.K20Ksynrs1589210.8128-lod=56:399---hom336
14560241182TCENST00000296597ENSG000001641826024095660448853ENSP00000296597NDUFAF21MIMIT_HUMANc.100T>Cp.Y34Hnon-synNA--lod=44:374TOLERATEDB-het2
15560241182TCENST00000502658ENSG000001641826024095660448853ENSP00000426149NDUFAF21-c.21T>Cp.T7TsynNA--lod=44:374TOLERATEDB-het2
16560241182TCENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21-c.100T>Cp.Y34Hnon-synNA--lod=44:374TOLERATEDB-het2
17560241241GCENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21-c.159G>Cp.W53Cnon-synrs771499360.0435C=307/G=8293;C=31/G=4375;C=338/G=12668----het61
18560241241GCENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21-c.159G>Cp.W53Cnon-synrs771499360.0435C=307/G=8293;C=31/G=4375;C=338/G=12668----hom3
19560241268GAENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21---+13bp 5'_splice_siters1589200.15264-----hom23
20560241268GAENST00000511107ENSG000001641826024095660448853ENSP00000423377NDUFAF21---+13bp 5'_splice_siters1589200.15264-----het226
** 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 NDUFAF2 5:60240956..60448853 region Gbrowse