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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: sacsin
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000048279 Sacs 10090 + 14:61138457-61240695 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000089394 Sacs-001 61138457-61240695 protein_coding
  ENSMUST00000119509 Sacs-002 61138491-61199666 protein_coding
  ENSMUST00000119943 Sacs-005 61148052-61215497 protein_coding
  ENSMUST00000121091 Sacs-003 61172990-61195663 protein_coding
  ENSMUST00000150222 Sacs-004 61188807-61204920 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainColonHeartKidneyLiverMuscleOvaryPlacentaTestisENSMUST00000089394ENSMUST00000119509ENSMUST00000119943ENSMUST00000121091
Transcript ID Adipose Adrenal Bladder Brain Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENSMUST00000089394 N/A 0.160±0.00 N/A N/A 0.119±0.00 N/A N/A N/A N/A 0.281±0.00 N/A N/A
ENSMUST00000119509 N/A 0.210±0.00 N/A N/A N/A N/A N/A N/A N/A 0.361±0.00 N/A N/A
ENSMUST00000119943 0.644±0.19 0.166±0.04 3.148±0.00 2.913±0.30 0.301±0.07 1.668±0.08 0.143±0.06 0.632±0.86 1.164±0.19 0.647±0.41 0.514±0.25 0.691±0.22
ENSMUST00000121091 N/A 0.267±0.09 N/A N/A 0.182±0.00 N/A 0.045±0.00 0.067±0.05 N/A 0.527±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0007ZO CIL_0007ZO_0002 VISTA 14:60704739-61305741
CIL_0008P8 CIL_0008P8_0002 VISTA 14:60705067-61305254
CIL_0005YX CIL_0005YX_0002 CGP 14:61138457-61258490

Gene Ontology
GO IDEvidence TypeGO Description
GO:0005634 IEA nucleus
GO:0005737 IEA cytoplasm
GO:0005739 IEA mitochondrion
GO:0030544 IEA Hsp70 protein binding
GO:0050750 ISA low-density lipoprotein particle receptor binding
GO:0051087 IEA chaperone binding
GO:0070628 IEA proteasome binding
GO:0090084 IEA 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
ENSG00000151835 SACS sacsin molecular chaperone protein_coding Homo_sapiens

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