Description
HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 [Source:HGNC Symbol;Acc:HGNC:17022]
Gene Synonyms
AIBP63, BLOC2S2, RU2
Location
Scaffold HG2111_PATCH: 27,502-70,966 reverse strand.
About this transcript
This transcript has 23 exons, is annotated with 20 domains and features, is associated with 18661 variant alleles and maps to 672 oligo probes.
Gene
This transcript is a product of gene ENSG00000288445.2 Show transcript tableHide transcript table
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq Match | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000671838.2 | HPS5-212 | 4840 | 1129aa | ENSP00000500370.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-1 | - | 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, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000672413.1 | HPS5-216 | 4725 | 1015aa | ENSP00000499956.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000672334.1 | HPS5-214 | 4147 | 1015aa | ENSP00000500042.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UPZ3-2 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000673322.1 | HPS5-220 | 2160 | 400aa | ENSP00000500818.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | G3V159 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000672381.1 | HPS5-215 | 1275 | 263aa | ENSP00000500840.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5H6Q8 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000672223.1 | HPS5-213 | 759 | 160aa | ENSP00000500693.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F5GWM5 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000673434.1 | HPS5-221 | 1642 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000673145.1 | HPS5-219 | 485 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000673578.1 | HPS5-222 | 320 | No protein | - | Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined | - | - | - | |
| ENST00000672622.1 | HPS5-217 | 1121 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000673098.1 | HPS5-218 | 711 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |