C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: spastic paraplegia 11 (autosomal recessive)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000104133 SPG11 9606 - 15:44562696-44663678 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000261866 SPG11-001 44562696-44663664 protein_coding
  ENST00000427534 SPG11-004 44563121-44663647 protein_coding
  ENST00000535302 SPG11-002 44562854-44663675 protein_coding
  ENST00000557866 SPG11-021 44633470-44651644 non_stop_decay
  ENST00000558080 SPG11-026 44573358-44575272 retained_intron
  ENST00000558093 SPG11-011 44598354-44606158 retained_intron
  ENST00000558138 SPG11-019 44564639-44572824 protein_coding
  ENST00000558155 SPG11-013 44585838-44596346 nonsense_mediated_decay
  ENST00000558253 SPG11-014 44585652-44590937 processed_transcript
  ENST00000558319 SPG11-006 44573357-44663678 protein_coding
  ENST00000558561 SPG11-024 44596804-44598679 retained_intron
  ENST00000558790 SPG11-015 44584259-44590528 processed_transcript
  ENST00000558988 SPG11-023 44600260-44610857 protein_coding
  ENST00000558989 SPG11-008 44615428-44621866 retained_intron
  ENST00000559193 SPG11-003 44622476-44663658 protein_coding
  ENST00000559347 SPG11-027 44565966-44572640 processed_transcript
  ENST00000559511 SPG11-007 44562697-44584527 protein_coding
  ENST00000559754 SPG11-010 44600564-44610859 protein_coding
  ENST00000559822 SPG11-016 44573734-44584451 nonsense_mediated_decay
  ENST00000559933 SPG11-017 44570553-44573820 retained_intron
  ENST00000560299 SPG11-020 44564553-44566144 retained_intron
  ENST00000560435 SPG11-022 44613509-44620305 nonsense_mediated_decay
  ENST00000560858 SPG11-025 44585762-44595273 nonsense_mediated_decay
  ENST00000561268 SPG11-018 44567338-44573683 retained_intron
  ENST00000561391 SPG11-012 44596116-44597172 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000261866ENST00000427534ENST00000535302ENST00000558319ENST00000559193ENST00000559511
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000261866 3.640±0.00 3.336±0.00 N/A 2.048±0.56 2.509±0.71 3.594±1.37 4.734±0.00 2.836±0.91 2.628±1.22 5.366±2.70 3.717±0.00 4.003±1.10 3.742±2.09 4.975±0.00
ENST00000427534 N/A N/A 1.899±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000535302 N/A N/A N/A N/A 3.161±0.00 N/A 2.158±0.00 N/A 2.298±0.00 N/A 1.115±0.00 N/A N/A N/A
ENST00000558319 N/A N/A 2.486±0.00 N/A 3.591±0.00 7.122±0.00 N/A 3.755±0.00 N/A 4.579±0.00 N/A 4.936±0.00 N/A N/A
ENST00000559193 N/A N/A 3.820±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000559511 N/A 9.026±0.00 5.448±0.00 N/A 5.372±0.00 5.523±0.00 N/A 10.785±0.00 5.533±0.00 6.397±0.00 N/A 12.436±6.07 N/A 17.393±3.77

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_000686 CIL_000686_0001 CGP 15:44427234-44563029
CIL_0004DI CIL_0004DI_0001 CGP 15:44537057-44663678
CIL_0004DJ CIL_0004DJ_0001 CGP 15:44562696-44711316

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IPI protein binding
GO:0005730 IDA nucleolus
GO:0005737 IDA cytoplasm
GO:0005765 IDA lysosomal membrane
GO:0005886 IDA plasma membrane
GO:0008219 IEA cell death
GO:0016021 IEA integral component of membrane
GO:0031410 IDA cytoplasmic vesicle
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000045968 spg11 spastic paraplegia 11 protein_coding Danio_rerio
ENSMUSG00000033396 Spg11 spastic paraplegia 11 protein_coding Mus_musculus

Loading