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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: sacsin molecular chaperone
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000151835 SACS 9606 - 13:23328823-23433728 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000382292 SACS-001 23328826-23411513 protein_coding
  ENST00000382298 SACS-201 23328823-23433728 protein_coding
  ENST00000402364 SACS-003 23328826-23375543 protein_coding
  ENST00000423156 SACS-005 23328833-23355483 protein_coding
  ENST00000455470 SACS-004 23328830-23368444 protein_coding
  ENST00000476776 SACS-002 23353736-23354890 processed_transcript

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000382292ENST00000382298ENST00000402364ENST00000423156ENST00000455470ENST00000476776
Transcript ID Adipose Adrenal Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000382292 N/A 0.200±0.00 3.163±0.00 N/A 0.580±0.40 0.304±0.00 N/A N/A 0.834±0.00 N/A 3.079±0.00 N/A 1.798±0.00
ENST00000382298 N/A N/A 2.979±1.44 0.322±0.13 N/A 0.173±0.00 N/A 1.472±0.00 N/A N/A N/A 0.029±0.00 0.496±0.00
ENST00000402364 0.456±0.00 0.987±0.00 1.024±0.00 0.186±0.00 0.716±0.00 N/A 0.414±0.13 0.138±0.00 0.576±0.00 1.708±0.00 0.989±0.11 0.116±0.05 0.974±0.53
ENST00000423156 N/A 1.584±0.00 N/A N/A N/A N/A 0.642±0.00 0.265±0.00 N/A N/A 2.115±0.00 0.272±0.00 N/A
ENST00000455470 N/A N/A N/A N/A N/A N/A N/A N/A 1.330±0.00 N/A N/A 0.301±0.00 N/A
ENST00000476776 N/A N/A N/A N/A N/A N/A 2.891±0.00 N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00006J CIL_00006J_0002 CGP 13:23180952-23433728
CIL_0007ZO CIL_0007ZO_0001 VISTA 13:23315305-23916480
CIL_0008P8 CIL_0008P8_0001 VISTA 13:23315865-23916052

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005515 IEA protein binding
GO:0005634 IDA nucleus
GO:0005737 IDA cytoplasm
GO:0005739 IDA mitochondrion
GO:0006457 NAS protein folding
GO:0008219 IEA cell death
GO:0030424 TAS axon
GO:0030425 TAS dendrite
GO:0030544 IPI Hsp70 protein binding
GO:0051087 IDA chaperone binding
GO:0070628 IPI proteasome binding
GO:0070852 TAS cell body fiber
GO:0090084 IMP negative regulation of inclusion body assembly

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000062627 sacs spastic ataxia of Charlevoix-Saguenay (sacsin) protein_coding Danio_rerio
ENSDARG00000091042 SACS (2 of 2) sacsin molecular chaperone protein_coding Danio_rerio
ENSMUSG00000048279 Sacs sacsin protein_coding Mus_musculus

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