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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: spastic paraplegia 7 (pure and complicated autosomal recessive)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000268704 SPG7-001 ENSG00000197912 9606 + 16:89508403-89557766 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000268704
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

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 Biotype Species E-Value Bit Score
ENSMUST00000108868 Spg7-201 protein_coding Mus_musculus 0 2314
ENSMUST00000149248 Spg7-001 protein_coding Mus_musculus 0 2314
ENSMUST00000125975 Spg7-003 protein_coding Mus_musculus 0 2274
ENSMUST00000128803 Spg7-002 retained_intron Mus_musculus 0 1277
ENSMUST00000153285 Spg7-011 protein_coding Mus_musculus 0 704
ENSMUST00000128234 Spg7-005 protein_coding Mus_musculus 0 669
ENSMUST00000135991 Spg7-006 protein_coding Mus_musculus 0 215

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