Q8CEG8 · UBP27_MOUSE
- ProteinUbiquitin carboxyl-terminal hydrolase 27
- GeneUsp27x
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids438 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs3409508737 | 21 | E>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7241039T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7241039T>C Locations: - p.Glu21Gly (Ensembl:ENSMUST00000178293) - c.62A>G (Ensembl:ENSMUST00000178293) - p.Glu21Gly (Ensembl:ENSMUST00000115744) - c.62A>G (Ensembl:ENSMUST00000115744) - p.Glu21Gly (Ensembl:ENSMUST00000191497) - c.62A>G (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409414840 | 22 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7241036G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7241036G>C Locations: - p.Ala22Gly (Ensembl:ENSMUST00000178293) - c.65C>G (Ensembl:ENSMUST00000178293) - p.Ala22Gly (Ensembl:ENSMUST00000115744) - c.65C>G (Ensembl:ENSMUST00000115744) - p.Ala22Gly (Ensembl:ENSMUST00000191497) - c.65C>G (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409111046 | 22 | A>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7241037C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7241037C>G Locations: - p.Ala22Pro (Ensembl:ENSMUST00000178293) - c.64G>C (Ensembl:ENSMUST00000178293) - p.Ala22Pro (Ensembl:ENSMUST00000115744) - c.64G>C (Ensembl:ENSMUST00000115744) - p.Ala22Pro (Ensembl:ENSMUST00000191497) - c.64G>C (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409111043 | 24 | K>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.7241031T>A Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.7241031T>A Locations: - p.Lys24Ter (Ensembl:ENSMUST00000178293) - c.70A>T (Ensembl:ENSMUST00000178293) - p.Lys24Ter (Ensembl:ENSMUST00000115744) - c.70A>T (Ensembl:ENSMUST00000115744) - p.Lys24Ter (Ensembl:ENSMUST00000191497) - c.70A>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3408428882 | 25 | L>F | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000086.8:g.7241026T>A Codon: TTA/TTT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7241026T>A Locations: - p.Leu25Phe (Ensembl:ENSMUST00000178293) - c.75A>T (Ensembl:ENSMUST00000178293) - p.Leu25Phe (Ensembl:ENSMUST00000115744) - c.75A>T (Ensembl:ENSMUST00000115744) - p.Leu25Phe (Ensembl:ENSMUST00000191497) - c.75A>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3389506279 | 67 | R>* | EVA | ||||
Consequence: stop gained Somatic: No Accession: NC_000086.8:g.7240902T>A Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240902T>A Locations: - p.Arg67Ter (Ensembl:ENSMUST00000178293) - c.199A>T (Ensembl:ENSMUST00000178293) - p.Arg67Ter (Ensembl:ENSMUST00000115744) - c.199A>T (Ensembl:ENSMUST00000115744) - p.Arg67Ter (Ensembl:ENSMUST00000191497) - c.199A>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409749227 | 91 | C>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240829C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240829C>T Locations: - p.Cys91Tyr (Ensembl:ENSMUST00000178293) - c.272G>A (Ensembl:ENSMUST00000178293) - p.Cys91Tyr (Ensembl:ENSMUST00000115744) - c.272G>A (Ensembl:ENSMUST00000115744) - p.Cys91Tyr (Ensembl:ENSMUST00000191497) - c.272G>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409449075 | 205 | G>A | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240487C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240487C>G Locations: - p.Gly205Ala (Ensembl:ENSMUST00000178293) - c.614G>C (Ensembl:ENSMUST00000178293) - p.Gly205Ala (Ensembl:ENSMUST00000115744) - c.614G>C (Ensembl:ENSMUST00000115744) - p.Gly205Ala (Ensembl:ENSMUST00000191497) - c.614G>C (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409449138 | 223 | I>K | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240433A>T Codon: ATA/AAA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240433A>T Locations: - p.Ile223Lys (Ensembl:ENSMUST00000178293) - c.668T>A (Ensembl:ENSMUST00000178293) - p.Ile223Lys (Ensembl:ENSMUST00000115744) - c.668T>A (Ensembl:ENSMUST00000115744) - p.Ile223Lys (Ensembl:ENSMUST00000191497) - c.668T>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409508751 | 224 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240430T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240430T>A Locations: - p.Asp224Val (Ensembl:ENSMUST00000178293) - c.671A>T (Ensembl:ENSMUST00000178293) - p.Asp224Val (Ensembl:ENSMUST00000115744) - c.671A>T (Ensembl:ENSMUST00000115744) - p.Asp224Val (Ensembl:ENSMUST00000191497) - c.671A>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3408428894 | 275 | H>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240278G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240278G>T Locations: - p.His275Asn (Ensembl:ENSMUST00000178293) - c.823C>A (Ensembl:ENSMUST00000178293) - p.His275Asn (Ensembl:ENSMUST00000115744) - c.823C>A (Ensembl:ENSMUST00000115744) - p.His275Asn (Ensembl:ENSMUST00000191497) - c.823C>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409449070 | 298 | T>N | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240208G>T Codon: ACT/AAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240208G>T Locations: - p.Thr298Asn (Ensembl:ENSMUST00000178293) - c.893C>A (Ensembl:ENSMUST00000178293) - p.Thr298Asn (Ensembl:ENSMUST00000115744) - c.893C>A (Ensembl:ENSMUST00000115744) - p.Thr298Asn (Ensembl:ENSMUST00000191497) - c.893C>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409749270 | 298 | T>P | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240209T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240209T>G Locations: - p.Thr298Pro (Ensembl:ENSMUST00000178293) - c.892A>C (Ensembl:ENSMUST00000178293) - p.Thr298Pro (Ensembl:ENSMUST00000115744) - c.892A>C (Ensembl:ENSMUST00000115744) - p.Thr298Pro (Ensembl:ENSMUST00000191497) - c.892A>C (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3408428921 | 299 | M>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240205A>C Codon: ATG/AGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240205A>C Locations: - p.Met299Arg (Ensembl:ENSMUST00000178293) - c.896T>G (Ensembl:ENSMUST00000178293) - p.Met299Arg (Ensembl:ENSMUST00000115744) - c.896T>G (Ensembl:ENSMUST00000115744) - p.Met299Arg (Ensembl:ENSMUST00000191497) - c.896T>G (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3408352912 | 330 | P>T | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240113G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240113G>T Locations: - p.Pro330Thr (Ensembl:ENSMUST00000178293) - c.988C>A (Ensembl:ENSMUST00000178293) - p.Pro330Thr (Ensembl:ENSMUST00000115744) - c.988C>A (Ensembl:ENSMUST00000115744) - p.Pro330Thr (Ensembl:ENSMUST00000191497) - c.988C>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409538157 | 338 | F>L | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240087A>T Codon: TTT/TTA Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240087A>T Locations: - p.Phe338Leu (Ensembl:ENSMUST00000178293) - c.1014T>A (Ensembl:ENSMUST00000178293) - p.Phe338Leu (Ensembl:ENSMUST00000115744) - c.1014T>A (Ensembl:ENSMUST00000115744) - p.Phe338Leu (Ensembl:ENSMUST00000191497) - c.1014T>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3410001396 | 338 | F>Y | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240088A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240088A>T Locations: - p.Phe338Tyr (Ensembl:ENSMUST00000178293) - c.1013T>A (Ensembl:ENSMUST00000178293) - p.Phe338Tyr (Ensembl:ENSMUST00000115744) - c.1013T>A (Ensembl:ENSMUST00000115744) - p.Phe338Tyr (Ensembl:ENSMUST00000191497) - c.1013T>A (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3412153645 | 340 | A>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240082G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240082G>A Locations: - p.Ala340Val (Ensembl:ENSMUST00000178293) - c.1019C>T (Ensembl:ENSMUST00000178293) - p.Ala340Val (Ensembl:ENSMUST00000115744) - c.1019C>T (Ensembl:ENSMUST00000115744) - p.Ala340Val (Ensembl:ENSMUST00000191497) - c.1019C>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3389559789 | 345 | T>I | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7240067G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240067G>A Locations: - p.Thr345Ile (Ensembl:ENSMUST00000178293) - c.1034C>T (Ensembl:ENSMUST00000178293) - p.Thr345Ile (Ensembl:ENSMUST00000115744) - c.1034C>T (Ensembl:ENSMUST00000115744) - p.Thr345Ile (Ensembl:ENSMUST00000191497) - c.1034C>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs242646824 | 358 | A>G | EVA | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000086.8:g.7240028G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7240028G>C Locations: - p.Ala358Gly (Ensembl:ENSMUST00000178293) - c.1073C>G (Ensembl:ENSMUST00000178293) - p.Ala358Gly (Ensembl:ENSMUST00000115744) - c.1073C>G (Ensembl:ENSMUST00000115744) - p.Ala358Gly (Ensembl:ENSMUST00000191497) - c.1073C>G (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3410001353 | 391 | Q>H | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7239928C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7239928C>G Locations: - p.Gln391His (Ensembl:ENSMUST00000178293) - c.1173G>C (Ensembl:ENSMUST00000178293) - p.Gln391His (Ensembl:ENSMUST00000115744) - c.1173G>C (Ensembl:ENSMUST00000115744) - p.Gln391His (Ensembl:ENSMUST00000191497) - c.1173G>C (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3409321771 | 410 | D>V | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7239872T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7239872T>A Locations: - p.Asp410Val (Ensembl:ENSMUST00000178293) - c.1229A>T (Ensembl:ENSMUST00000178293) - p.Asp410Val (Ensembl:ENSMUST00000115744) - c.1229A>T (Ensembl:ENSMUST00000115744) - p.Asp410Val (Ensembl:ENSMUST00000191497) - c.1229A>T (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: | |||||||
rs3407465241 | 411 | S>R | EVA | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000086.8:g.7239870T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: Xq Genomic location: NC_000086.8:g.7239870T>G Locations: - p.Ser411Arg (Ensembl:ENSMUST00000178293) - c.1231A>C (Ensembl:ENSMUST00000178293) - p.Ser411Arg (Ensembl:ENSMUST00000115744) - c.1231A>C (Ensembl:ENSMUST00000115744) - p.Ser411Arg (Ensembl:ENSMUST00000191497) - c.1231A>C (Ensembl:ENSMUST00000191497) Source type: large scale study Cross-references: |