MSeqDR Central Portal

MSeqDR Data Summary for the Term SACS:
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
ENSG00000151835 MSeqDR Search EnsemblSACS0047ENSG00000151835ENST00000402364ENSP00000385844spastic ataxia of Charlevoix-Saguenay (sacsin) [Source:HGNC Symbol;Acc:10519]132390296524007841-1q12.122390296523949682SACSSACS-003HGNC SymbolHGNC transcript name641.25protein_codingprotein_codingensembl_havahavanaKNOWNKNOWN2627810519SACSNM_00127805527513


MSeqDR Master Exome Data Set M1: 526 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
11323902983TAENST00000382292ENSG000001518352390296524007841ENSP00000371729SACS-1SACS_HUMAN--3'_UTRrs1474766650.058-lod=253:561---het11
21323902983TAENST00000382298ENSG000001518352390296524007841ENSP00000371735SACS-1SACS_HUMAN--3'_UTRrs1474766650.058-lod=253:561---het11
31323902983TAENST00000402364ENSG000001518352390296524007841ENSP00000385844SACS-1SACS_HUMAN--3'_UTRrs1474766650.058-lod=253:561---het11
41323902983TAENST00000423156ENSG000001518352390296524007841ENSP00000390925SACS-1---3'_UTRrs1474766650.058-lod=253:561---het11
51323902983TAENST00000455470ENSG000001518352390296524007841ENSP00000406565SACS-1---3'_UTRrs1474766650.058-lod=253:561---het11
61323903118GTENST00000382292ENSG000001518352390296524007841ENSP00000371729SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
71323903118GTENST00000382298ENSG000001518352390296524007841ENSP00000371735SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
81323903118GTENST00000402364ENSG000001518352390296524007841ENSP00000385844SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
91323903118GTENST00000423156ENSG000001518352390296524007841ENSP00000390925SACS-1---3'_UTRNA--lod=110:472---het1
101323903118GTENST00000455470ENSG000001518352390296524007841ENSP00000406565SACS-1---3'_UTRNA--lod=110:472---het1
111323903128ACENST00000382292ENSG000001518352390296524007841ENSP00000371729SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
121323903128ACENST00000382298ENSG000001518352390296524007841ENSP00000371735SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
131323903128ACENST00000402364ENSG000001518352390296524007841ENSP00000385844SACS-1SACS_HUMAN--3'_UTRNA--lod=110:472---het1
141323903128ACENST00000423156ENSG000001518352390296524007841ENSP00000390925SACS-1---3'_UTRNA--lod=110:472---het1
151323903128ACENST00000455470ENSG000001518352390296524007841ENSP00000406565SACS-1---3'_UTRNA--lod=110:472---het1
161323903219T-TAAAGENST00000382292ENSG000001518352390296524007841ENSP00000371729SACS-1SACS_HUMAN--3'_UTRrs66920661------het103
171323903219T-TAAAGENST00000382292ENSG000001518352390296524007841ENSP00000371729SACS-1SACS_HUMAN--3'_UTRrs66920661------hom4
181323903219T-TAAAGENST00000382298ENSG000001518352390296524007841ENSP00000371735SACS-1SACS_HUMAN--3'_UTRrs66920661------het103
191323903219T-TAAAGENST00000382298ENSG000001518352390296524007841ENSP00000371735SACS-1SACS_HUMAN--3'_UTRrs66920661------hom4
201323903219T-TAAAGENST00000402364ENSG000001518352390296524007841ENSP00000385844SACS-1SACS_HUMAN--3'_UTRrs66920661------het103
** 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 SACS 13:23902965..24007841 region Gbrowse