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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: survival motor neuron 1
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSMUSG00000021645 Smn1 10090 + 13:100124852-100137690 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENSMUST00000022147 Smn1-001 100124852-100137690 protein_coding
  ENSMUST00000091321 Smn1-003 100124894-100137480 protein_coding
  ENSMUST00000125572 Smn1-007 100126125-100126935 retained_intron
  ENSMUST00000134514 Smn1-002 100124858-100127142 retained_intron
  ENSMUST00000135355 Smn1-010 100135393-100137450 retained_intron
  ENSMUST00000140745 Smn1-006 100124858-100127812 nonsense_mediated_decay
  ENSMUST00000143937 Smn1-008 100124924-100131174 protein_coding
  ENSMUST00000147306 Smn1-005 100131003-100137690 retained_intron
  ENSMUST00000151389 Smn1-009 100127875-100128630 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENSMUST00000022147ENSMUST00000134514ENSMUST00000143937ENSMUST00000147306
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENSMUST00000022147 4.578±1.32 2.882±0.61 16.002±1.37 14.896±7.00 2.756±1.02 4.057±0.83 2.121±0.79 4.439±0.96 10.050±9.25 5.116±0.99 4.334±0.62 8.918±2.61 18.238±6.67 6.043±1.63
ENSMUST00000134514 N/A N/A N/A 6.971±0.00 3.078±0.00 N/A 1.947±0.00 2.419±0.00 2.330±0.38 5.909±0.00 N/A N/A 14.350±8.01 N/A
ENSMUST00000143937 N/A N/A N/A 6.702±0.00 N/A N/A 1.597±0.28 N/A N/A N/A 1.677±0.10 11.995±1.07 18.376±9.39 8.695±0.00
ENSMUST00000147306 N/A 3.595±0.94 N/A N/A 3.602±0.00 1.845±0.00 N/A N/A N/A 4.034±0.22 N/A 3.675±1.01 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0004ZD CIL_0004ZD_0003 CGP 13:100107997-100137690
CIL_0004ZC CIL_0004ZC_0002 CGP 13:100124852-100202092

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000387 ISS spliceosomal snRNP assembly
GO:0003723 IEA RNA binding
GO:0005515 IPI protein binding
GO:0005634 IDA nucleus
GO:0005654 ISS nucleoplasm
GO:0005737 IDA cytoplasm
GO:0005829 ISS cytosol
GO:0006397 IEA mRNA processing
GO:0007019 IMP microtubule depolymerization
GO:0007409 IMP axonogenesis
GO:0015030 ISS Cajal body
GO:0032797 ISS SMN complex
GO:0034719 ISS SMN-Sm protein complex
GO:0097504 ISS Gemini of coiled bodies

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000018494 smn1 survival motor neuron 1 protein_coding Danio_rerio
ENSG00000172062 SMN1 survival of motor neuron 1, telomeric protein_coding Homo_sapiens
ENSG00000205571 SMN2 survival of motor neuron 2, centromeric protein_coding Homo_sapiens

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