MSeqDR Central Portal

MSeqDR Data Summary for the Term COL4A5:
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
ENSG00000188153 MSeqDR Search EnsemblCOL4A510555ENSG00000188153ENST00000477429collagen, type IV, alpha 5 [Source:HGNC Symbol;Acc:2207]X1076830741079407751q22.3107683074107686321COL4A5COL4A5-004HGNC SymbolHGNC transcript name1035.75protein_codingprocessed_transcriptensembl_havahavanaKNOWNKNOWN12872207COL4A527516


MSeqDR Master Exome Data Set M1: 225 entries from same gene

No.ChrPositionReferenceVariantEnsemblTranscriptIDEnsemblGeneIDGene_StartGene_EndEnsemblProteinIDGenestrandUniprotcChangepChangeNaturedbSNPFreqEVSphastConsSIFTPolyphenHGMDtypesamples
1X107683109GCENST00000477429ENSG00000188153107683074107940775-COL4A51-c.36G>Cp.W12Cnon-synrs1400795060.0048-lod=24:309---het2
2X107683175C-CTTENST00000328300ENSG00000188153107683074107940775ENSP00000331902COL4A51CO4A5_HUMAN--5'_UTRNA------het3
3X107683175C-CTTENST00000361603ENSG00000188153107683074107940775ENSP00000354505COL4A51CO4A5_HUMAN--5'_UTRNA------het3
4X107683175C-CTTENST00000470339ENSG00000188153107683074107940775-COL4A51-c.5_7delp.P2NAnon-synNA------het3
5X107683175C-CTTENST00000477429ENSG00000188153107683074107940775-COL4A51-c.103_105delp.L35NAnon-synNA------het3
6X107683188C-TENST00000328300ENSG00000188153107683074107940775ENSP00000331902COL4A51CO4A5_HUMAN--5'_UTRNA------het1
7X107683188C-TENST00000328300ENSG00000188153107683074107940775ENSP00000331902COL4A51CO4A5_HUMAN--5'_UTRNA------hom1
8X107683188C+TENST00000328300ENSG00000188153107683074107940775ENSP00000331902COL4A51CO4A5_HUMAN--5'_UTRNA------hom1
9X107683188C+TENST00000328300ENSG00000188153107683074107940775ENSP00000331902COL4A51CO4A5_HUMAN--5'_UTRNA------het1
10X107683188C-TENST00000361603ENSG00000188153107683074107940775ENSP00000354505COL4A51CO4A5_HUMAN--5'_UTRNA------het1
11X107683188C-TENST00000361603ENSG00000188153107683074107940775ENSP00000354505COL4A51CO4A5_HUMAN--5'_UTRNA------hom1
12X107683188C+TENST00000361603ENSG00000188153107683074107940775ENSP00000354505COL4A51CO4A5_HUMAN--5'_UTRNA------hom1
13X107683188C+TENST00000361603ENSG00000188153107683074107940775ENSP00000354505COL4A51CO4A5_HUMAN--5'_UTRNA------het1
14X107683188C+TENST00000470339ENSG00000188153107683074107940775-COL4A51-c.17_18insTp.S6NAnon-synNA------hom1
15X107683188C+TENST00000470339ENSG00000188153107683074107940775-COL4A51-c.17_18insTp.S6NAnon-synNA------het1
16X107683188C-TENST00000470339ENSG00000188153107683074107940775-COL4A51-c.18_18delp.S6NAnon-synNA------het1
17X107683188C-TENST00000470339ENSG00000188153107683074107940775-COL4A51-c.18_18delp.S6NAnon-synNA------hom1
18X107683188C+TENST00000477429ENSG00000188153107683074107940775-COL4A51-c.115_116insTp.L39NAnon-synNA------hom1
19X107683188C+TENST00000477429ENSG00000188153107683074107940775-COL4A51-c.115_116insTp.L39NAnon-synNA------het1
20X107683188C-TENST00000477429ENSG00000188153107683074107940775-COL4A51-c.116_116delp.L39NAnon-synNA------het1
** 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 COL4A5 X:107683074..107940775 region Gbrowse