|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:FLJ26674
gptkb:SMNC
gptkb:SMA
gptkb:CUSMA
gptkb:SMA1
gptkb:hSMN
SMNT
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
spinal muscular atrophy
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredIn
|
1995
|
|
gptkbp:encodes
|
gptkb:SMN_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000172062
6606
|
|
gptkbp:expressedIn
|
gptkb:spinal_cord
motor neurons
|
|
gptkbp:fullName
|
gptkb:Survival_of_Motor_Neuron_1
|
|
gptkbp:function
|
RNA splicing
motor neuron survival
snRNP assembly
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:SMN2
|
|
gptkbp:hasPseudogene
|
gptkb:SMN2
|
|
gptkbp:HGNC_ID
|
11102
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMN1
|
|
gptkbp:inheritance
|
autosomal recessive
|
|
gptkbp:length
|
20 kb
|
|
gptkbp:locatedOnChromosome
|
5
plus
5q13.2
|
|
gptkbp:locusType
|
5q13.2
|
|
gptkbp:MIM_gene
|
600354
|
|
gptkbp:mutationAssociatedWith
|
gptkb:spinal_muscular_atrophy_type_1
gptkb:spinal_muscular_atrophy_type_2
gptkb:spinal_muscular_atrophy_type_3
|
|
gptkbp:numberOfExons
|
9
|
|
gptkbp:OMIM
|
600354
|
|
gptkbp:OMIM_phenotype
|
253300
253400
253550
|
|
gptkbp:orthologIn
|
gptkb:SMN1_(mouse)
gptkb:SMN2
|
|
gptkbp:product
|
gptkb:SMN_protein
|
|
gptkbp:proteinFamily
|
gptkb:SMN_family
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:UniProtID
|
gptkb:Q16637
|
|
gptkbp:bfsParent
|
gptkb:Zolgensma
|
|
gptkbp:bfsLayer
|
5
|