HsaEX0042212 @ hg38
Exon Skipping
Gene
ENSG00000166579 | NDEL1
Description
nudE neurodevelopment protein 1 like 1 [Source:HGNC Symbol;Acc:HGNC:17620]
Coordinates
chr17:8460009-8490411:+
Coord C1 exon
chr17:8460009-8460160
Coord A exon
chr17:8463320-8463354
Coord C2 exon
chr17:8490247-8490411
Length
35 bp
Sequences
Splice sites
3' ss Seq
GTTCTCCTTTCTTTTATTAGGCA
3' ss Score
9.41
5' ss Seq
TGGGTAACT
5' ss Score
4.34
Exon sequences
Seq C1 exon
GCTTTAGAATCCAAATTAGCAGCTTGCAGGAATTTTGCAAAGGACCAAGCATCACGAAAATCCTATATTTCAGGGAATGTTAACTGTGGGGTGCTGAATGGCAATGGCACAAAGTTCTCTCGATCAGGGCATACATCTTTCTTCGACAAAGG
Seq A exon
GCAAGAAAAAGTCATATTTCCCACGTTGTTCATGG
Seq C2 exon
ATGTGTTCTAACACGAATGAACAGGATACTGACCCAGAGCTGGGCTTTGAGAGCCTGCACCCCTTGTTGTGGAGGCCGCACCCTCTGCCCTACCTGTTTGATCAGCAGCCGCTTCTTCTCTTCATTCTGCTCATCCCTGGTTTGCAGGTCTCTCTCGAACTGCGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166579_MULTIEX2-5/5=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (Iupred):
C1=0.029 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF048808=NUDE_C=FE(24.8=100)
A:
PF048808=NUDE_C=PD(5.2=76.9)
C2:
PF048808=NUDE_C=PD(10.8=30.9)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAACTGTGGGGTGCTGAATGG
R:
CCAGCTCTGGGTCAGTATCCT
Band lengths:
115-150
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development