Summary
- Splice variants
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- Gene history

Gene: BGIOSGA023049

Location

Chromosome 6: 20,902,662-20,903,339 forward strand.

About this gene

This gene has 1 transcript (splice variant), 103 orthologues and 5 paralogues.

Transcripts

Show transcript tableHide transcript table

Name	Transcript ID	bp	Protein	Biotype	UniProt	Flags
-	BGIOSGA023049-TA	678	225aa	Gene/transcipt that contains an open reading frame (ORF).Protein coding	B8B3C6	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical,

Variant table

This table shows known variants for this gene. Use the 'Consequence Type' filter to view a subset of these.

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SIFTAll
SIFT

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1
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ConsequencesAll
Consequences

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PTV
PTV & Missense
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PTV = Protein Truncating Variant
(0)

transcript ablation
(0)

splice acceptor variant
(0)

splice donor variant
(0)

stop gained
(0)

frameshift variant
(0)

stop lost
(0)

start lost
(0)

transcript amplification
(0)

inframe insertion
(0)

inframe deletion
(0)

missense variant
(0)

protein altering variant
(0)

splice donor 5th base variant
(0)

splice region variant
(0)

splice donor region variant
(0)

splice polypyrimidine tract variant
(0)

incomplete terminal codon variant
(0)

start retained variant
(0)

stop retained variant
(1)

synonymous variant
(0)

coding sequence variant
(0)

mature miRNA variant
(0)

5 prime UTR variant
(0)

3 prime UTR variant
(0)

non coding transcript exon variant
(0)

intron variant
(0)

NMD transcript variant
(0)

non coding transcript variant
(0)

coding transcript variant
(2)

upstream gene variant
(3)

downstream gene variant
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LocationAll
Location

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6:20897662 - 6:20908339
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ClassAll
Class

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Only Somatic
Not Somatic
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(6)
SNP
(0)
deletion
(0)
genetic marker
(0)
indel
(0)
insertion
(0)
sequence alteration
(0)
substitution
(0)
tandem repeat
(0)
somatic SNV
(0)
somatic deletion
(0)
somatic genetic marker
(0)
somatic indel
(0)
somatic insertion
(0)
somatic sequence alteration
(0)
somatic substitution
(0)
somatic tandem repeat
(0)
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SourceAll
Source

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(6)
dbSNP
(0)
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EvidenceAll
Evidence

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(0)
1000Genomes
(0)
HapMap
(0)
Cited
(0)
ESP
(0)
ExAC
(0)
Frequency
(0)
gnomAD
(0)
Multiple_observations
(0)
Phenotype_or_Disease
(0)
TOPMed
(6)
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Clinical SignificanceAll
Clinical Significance

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(0)
uncertain significance
(0)
not provided
(0)
other
(0)
benign
(0)
likely benign
(0)
association
(0)
histocompatibility
(0)
confers sensitivity
(0)
drug response
(0)
risk factor
(0)
likely pathogenic
(0)
protective
(0)
pathogenic
(6)
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AA coordAll
AA coord

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TranscriptAll
Transcript

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(6)
BGIOSGA023049-TA
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