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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Transcript Info
Description: amyotrophic lateral sclerosis 2 (juvenile)
Transcript Accession Transcript Name Contained in Gene Tax ID Strand Position Biotype
ENST00000264276 ALS2-001 ENSG00000003393 9606 - 2:201700554-201781189 protein_coding

Homo sapiens EnsemblGRCh38

Genome
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Genes
Structures from Ensembl
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Transcripts
Structures from Ensembl
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Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000264276
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000264276 1.857±0.00 0.545±0.00 0.917±0.00 3.571±0.55 1.391±0.00 1.535±0.36 3.869±1.81 2.477±0.00 1.423±1.00 1.536±0.09 1.231±0.88 1.849±0.75 1.329±0.35 2.670±0.62

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_00089O CIL_00089O_0001 VISTA 2:201132231-201734391
CIL_0009CR CIL_0009CR_0001 VISTA 2:201587932-202188948
CIL_0000JK CIL_0000JK_0002 CGP 2:201644870-201781189
CIL_0000JL CIL_0000JL_0002 CGP 2:201700554-201895550

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001662 IEA behavioral fear response
GO:0001726 ISS ruffle
GO:0001881 IEA receptor recycling
GO:0005085 IDA guanyl-nucleotide exchange factor activity
GO:0005087 NAS Ran guanyl-nucleotide exchange factor activity
GO:0005089 IEA Rho guanyl-nucleotide exchange factor activity
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005769 IDA early endosome
GO:0005813 IDA centrosome
GO:0005829 IDA cytosol
GO:0006979 IEA response to oxidative stress
GO:0007032 NAS endosome organization
GO:0007528 IEA neuromuscular junction development
GO:0007626 IEA locomotory behavior
GO:0008104 IEA protein localization
GO:0008219 IEA cell death
GO:0014069 IEA postsynaptic density
GO:0016050 IEA vesicle organization
GO:0016197 IEA endosomal transport
GO:0017112 IDA Rab guanyl-nucleotide exchange factor activity
GO:0017137 IDA Rab GTPase binding
GO:0030027 ISS lamellipodium
GO:0030425 IDA dendrite
GO:0030426 ISS growth cone
GO:0030676 IDA Rac guanyl-nucleotide exchange factor activity
GO:0031982 IDA vesicle
GO:0032313 IEA regulation of Rab GTPase activity
GO:0032851 IDA positive regulation of Rab GTPase activity
GO:0032853 NAS positive regulation of Ran GTPase activity
GO:0032855 IDA positive regulation of Rac GTPase activity
GO:0035022 IC positive regulation of Rac protein signal transduction
GO:0035023 IEA regulation of Rho protein signal transduction
GO:0035249 IEA synaptic transmission, glutamatergic
GO:0042803 IPI protein homodimerization activity
GO:0043197 IEA dendritic spine
GO:0043234 IDA protein complex
GO:0043539 IDA protein serine/threonine kinase activator activity
GO:0045860 IDA positive regulation of protein kinase activity
GO:0048812 IDA neuron projection morphogenesis
GO:0051036 IEP regulation of endosome size
GO:0071902 IDA positive regulation of protein serine/threonine kinase activity

Homologs

ENSEMBL Accession Gene Name Biotype Species E-Value Bit Score
ENSMUST00000027178 Als2-001 protein_coding Mus_musculus 0 5729
ENSMUST00000163058 Als2-002 protein_coding Mus_musculus 0 5666
ENSMUST00000159166 Als2-003 retained_intron Mus_musculus 0 2726
ENSMUST00000160945 Als2-004 protein_coding Mus_musculus 0 425
ENSMUST00000114275 Mpp4-001 protein_coding Mus_musculus 3e-40 172

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