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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: spastic paraplegia 7 (pure and complicated autosomal recessive)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000197912 SPG7 9606 + 16:89490917-89557768 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000268704 SPG7-001 89508403-89557766 protein_coding
  ENST00000341316 SPG7-002 89508411-89537721 protein_coding
  ENST00000561702 SPG7-006 89549846-89557762 retained_intron
  ENST00000561911 SPG7-018 89546664-89557130 nonsense_mediated_decay
  ENST00000561945 SPG7-015 89531873-89544690 retained_intron
  ENST00000562775 SPG7-003 89522720-89526395 retained_intron
  ENST00000563218 SPG7-016 89532587-89548378 retained_intron
  ENST00000563783 SPG7-007 89490917-89510592 processed_transcript
  ENST00000564047 SPG7-010 89524204-89529714 retained_intron
  ENST00000564409 SPG7-011 89529205-89532570 retained_intron
  ENST00000565370 SPG7-014 89548889-89553100 retained_intron
  ENST00000565891 SPG7-021 89555864-89557542 processed_transcript
  ENST00000566221 SPG7-013 89544726-89553079 nonsense_mediated_decay
  ENST00000566371 SPG7-009 89507502-89524154 protein_coding
  ENST00000566682 SPG7-019 89553064-89555002 protein_coding
  ENST00000567138 SPG7-012 89532035-89533791 protein_coding
  ENST00000568151 SPG7-008 89508713-89524077 protein_coding
  ENST00000568205 SPG7-017 89550536-89553367 retained_intron
  ENST00000568509 SPG7-023 89491218-89499285 processed_transcript
  ENST00000569363 SPG7-022 89508577-89514571 processed_transcript
  ENST00000569720 SPG7-020 89553667-89557423 retained_intron
  ENST00000569820 SPG7-005 89544648-89557768 nonsense_mediated_decay
  ENST00000620811 SPG7-201 89508397-89557765 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000268704ENST00000341316ENST00000561702ENST00000561911ENST00000565891ENST00000569820
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000268704 7.774±0.00 11.752±0.00 2.048±0.00 15.170±10.02 6.664±1.37 5.944±1.87 9.745±6.62 10.836±4.50 8.517±3.57 4.573±1.44 10.766±5.86 14.912±10.84 10.575±1.76 16.401±4.63
ENST00000341316 N/A N/A 1.673±0.00 N/A 4.395±0.00 N/A 3.251±1.95 N/A N/A 2.277±0.67 N/A N/A 3.337±0.08 8.124±0.00
ENST00000561702 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.149±0.00 N/A N/A N/A
ENST00000561911 N/A N/A N/A 4.021±0.00 N/A 6.643±0.00 N/A 4.660±0.00 N/A N/A N/A N/A N/A N/A
ENST00000565891 17.858±0.00 N/A N/A N/A 13.087±0.00 12.175±0.00 N/A 20.750±0.00 N/A 5.962±0.00 N/A N/A N/A N/A
ENST00000569820 N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.330±0.00 N/A N/A N/A 12.963±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008HA CIL_0008HA_0001 VISTA 16:89018329-89621235
CIL_000332 CIL_000332_0001 CGP 16:89267627-89557768
CIL_000331 CIL_000331_0001 CGP 16:89490917-89566828

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004222 IDA:IEA metalloendopeptidase activity
GO:0005515 IPI protein binding
GO:0005524 IEA ATP binding
GO:0005739 IEA mitochondrion
GO:0006508 IEA proteolysis
GO:0007005 IEA mitochondrion organization
GO:0007399 TAS nervous system development
GO:0008089 IEA anterograde axon cargo transport
GO:0008219 IEA cell death
GO:0008233 TAS peptidase activity
GO:0008270 IEA zinc ion binding
GO:0016020 IEA membrane
GO:0016021 IEA integral component of membrane
GO:0016887 IEA ATPase activity
GO:0051082 TAS unfolded protein binding

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000068187 spg7 spastic paraplegia 7 protein_coding Danio_rerio
ENSMUSG00000000738 Spg7 spastic paraplegia 7 homolog (human) protein_coding Mus_musculus

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