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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: survival of motor neuron 2, centromeric
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000205571 SMN2 9606 + 5:70049612-70078522 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000380741 SMN2-201 70049686-70076586 protein_coding
  ENST00000380742 SMN2-002 70049664-70077592 protein_coding
  ENST00000380743 SMN2-001 70049612-70077592 protein_coding
  ENST00000503678 SMN2-006 70063411-70070755 retained_intron
  ENST00000505346 SMN2-007 70067099-70076927 retained_intron
  ENST00000506734 SMN2-003 70049657-70077596 nonsense_mediated_decay
  ENST00000507458 SMN2-005 70070664-70078522 nonsense_mediated_decay
  ENST00000508258 SMN2-014 70069233-70070753 retained_intron
  ENST00000509805 SMN2-011 70067094-70070849 retained_intron
  ENST00000511812 SMN2-004 70049638-70076706 protein_coding
  ENST00000511873 SMN2-012 70067084-70070654 nonsense_mediated_decay
  ENST00000514914 SMN2-013 70067279-70077251 retained_intron
  ENST00000614240 SMN2-202 70049686-70076586 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000380742ENST00000380743ENST00000505346ENST00000506734ENST00000507458ENST00000514914
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000380742 0.532±0.00 0.645±0.00 0.313±0.00 0.283±0.00 0.760±0.00 0.313±0.00 0.243±0.10 0.550±0.00 0.640±0.49 0.464±0.00 N/A 0.860±0.80 0.738±0.28 0.613±0.00
ENST00000380743 N/A N/A N/A 0.477±0.00 N/A 0.269±0.00 0.052±0.00 N/A N/A N/A N/A 2.175±0.00 N/A 4.213±0.00
ENST00000505346 0.166±0.00 0.353±0.00 N/A N/A 0.301±0.00 0.629±0.57 0.161±0.00 0.317±0.00 0.162±0.00 0.501±0.34 N/A 0.486±0.33 0.216±0.03 N/A
ENST00000506734 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.180±0.00 N/A
ENST00000507458 N/A N/A N/A 0.241±0.00 1.229±0.00 N/A N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000514914 N/A N/A N/A 0.351±0.00 0.597±0.00 2.222±0.00 0.733±0.00 1.310±0.00 N/A 1.286±0.00 0.334±0.14 1.542±0.00 N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0004ZD CIL_0004ZD_0002 CGP 5:70025247-70078522

Gene Ontology
GO IDEvidence TypeGO Description
GO:0000245 NAS spliceosomal complex assembly
GO:0000387 IDA spliceosomal snRNP assembly
GO:0003723 IEA RNA binding
GO:0005515 IPI protein binding
GO:0005634 IDA:IEA nucleus
GO:0005654 IDA nucleoplasm
GO:0005737 IDA:IEA cytoplasm
GO:0005829 IDA cytosol
GO:0006397 IEA mRNA processing
GO:0007399 IEA nervous system development
GO:0008219 IEA cell death
GO:0010467 TAS gene expression
GO:0015030 IDA Cajal body
GO:0016070 TAS RNA metabolic process
GO:0032797 IDA SMN complex
GO:0034660 TAS ncRNA metabolic process
GO:0034719 IDA SMN-Sm protein complex
GO:0042307 IDA positive regulation of protein import into nucleus
GO:0042802 IPI identical protein binding
GO:0097504 IDA Gemini of coiled bodies

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000018494 smn1 survival motor neuron 1 protein_coding Danio_rerio
ENSMUSG00000021645 Smn1 survival motor neuron 1 protein_coding Mus_musculus

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