HsaEX0017872 @ hg38
Exon Skipping
Gene
NA
Description
NA
Coordinates
chr11:57805882-57806983:+
Coord C1 exon
chr11:57805882-57806035
Coord A exon
chr11:57806461-57806478
Coord C2 exon
chr11:57806915-57806983
Length
18 bp
Sequences
Splice sites
3' ss Seq
CTTGGGTGATGCACTGGAAGATG
3' ss Score
-1.15
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
CTTGTAGAGAACTGTGTTTGCCTTCTTCGGAACTTATCATATCAAGTTCACCGGGAGATCCCACAGGCAGAGCGTTACCAAGAGGCAGCTCCCAATGTTGCCAACAATACTGGGCCACATGCTGCCAGTTGCTTTGGGGCCAAGAAGGGCAAAG
Seq A exon
ATGAGTGGTTCTCCAGAG
Seq C2 exon
GGAAAAAACCTATAGAGGATCCAGCAAACGATACAGTGGATTTCCCTAAAAGAACGAGTCCAGCTCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198561-'41-41,'41-39,42-41
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
NA
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0051418=Arm=PU(2.5=4.2)
Other Inclusion Isoforms:
Other Skipping Isoforms:
ENSP00000351527, ENSP00000354785, ENSP00000409930, ENSP00000413586, ENSP00000432075, ENSP00000432243, ENSP00000432623, ENSP00000433158, ENSP00000433334, ENSP00000434017, ENSP00000434949, ENSP00000435379, ENSP00000435494, ENSP00000435789, ENSP00000436323, ENSP00000436543, ENSP00000437051, ENSP00000437156, ENSP00000437327
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCCCAATGTTGCCAACAA
R:
TCCACTGTATCGTTTGCTGGA
Band lengths:
108-126
Functional annotations
There are 1 annotated functions for this event
PMID: 32423416
The authors hypothesized that AltTEM regulation was responsible for a protein localization change in the Ctnnd1 protein (aka p120). Validation experiments using Western blot analysis of p120 in nuclear/cytoplasmic fractions for both cell types confirmed the increase of nuclear levels of the protein in OPCs in comparison to NPCs, where a cytoplasmic retention of p120 was observed. Higher inclusion, higher nuclear localization.
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development