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 1, telomeric
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000172062 SMN1 9606 + 5:70925030-70953942 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000351205 SMN1-201 70925104-70952006 protein_coding
  ENST00000380707 SMN1-001 70925030-70953012 protein_coding
  ENST00000503079 SMN1-008 70925030-70952347 protein_coding
  ENST00000506163 SMN1-007 70925095-70953040 protein_coding
  ENST00000506239 SMN1-003 70925075-70953016 nonsense_mediated_decay
  ENST00000507905 SMN1-005 70942508-70946079 nonsense_mediated_decay
  ENST00000510679 SMN1-004 70946089-70953942 processed_transcript
  ENST00000513228 SMN1-009 70942518-70946274 retained_intron
  ENST00000514951 SMN1-002 70925056-70952567 protein_coding
  ENST00000518504 SMN1-010 70942472-70946278 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000380707ENST00000506163ENST00000510679ENST00000514951
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000380707 0.139±0.00 0.839±0.00 0.143±0.00 0.308±0.14 N/A 0.847±0.02 0.338±0.00 0.471±0.29 0.532±0.08 N/A 0.367±0.06 0.507±0.35 0.440±0.06 1.042±0.46
ENST00000506163 0.517±0.00 0.227±0.00 N/A 0.310±0.03 0.484±0.00 0.506±0.03 0.233±0.00 0.281±0.00 0.347±0.12 0.718±0.12 0.223±0.11 0.917±0.72 1.045±0.68 1.867±0.00
ENST00000510679 N/A N/A 1.915±0.00 1.992±0.00 2.975±0.00 0.821±0.00 0.738±0.00 1.196±0.00 1.303±0.00 1.019±0.00 0.349±0.00 1.275±0.02 0.862±0.04 N/A
ENST00000514951 0.387±0.00 0.894±0.00 0.195±0.00 0.609±0.25 0.621±0.21 1.191±0.00 0.237±0.05 0.887±0.00 0.744±0.31 1.409±0.90 0.063±0.00 0.833±0.68 0.551±0.11 1.205±0.38

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0004ZD CIL_0004ZD_0001 CGP 5:70900665-70953942
CIL_0004ZC CIL_0004ZC_0001 CGP 5:70925030-71025114

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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