Special

HsaEX0042216 @ hg38

Exon Skipping

Gene
Description
nudE neurodevelopment protein 1 like 1 [Source:HGNC Symbol;Acc:HGNC:17620]
Coordinates
chr17:8444260-8446902:+
Coord C1 exon
chr17:8444260-8444357
Coord A exon
chr17:8445711-8445864
Coord C2 exon
chr17:8446754-8446902
Length
154 bp
Sequences
Splice sites
3' ss Seq
CCCACTTTGTTTCTGATTAGCTT
3' ss Score
6.54
5' ss Seq
AAGGTAATT
5' ss Score
8.83
Exon sequences
Seq C1 exon
GCTTTCTTGATCATGGATGGTGAAGATATACCAGATTTTTCAAGTTTAAAGGAGGAAACTGCTTATTGGAAGGAACTTTCCTTGAAGTATAAGCAAAG
Seq A exon
CTTCCAGGAAGCTCGGGATGAGCTAGTTGAATTCCAGGAAGGAAGCAGAGAATTAGAAGCAGAGTTGGAGGCACAATTAGTACAGGCTGAACAAAGAAATAGAGACTTGCAGGCTGATAACCAAAGACTGAAATATGAAGTGGAGGCATTAAAG
Seq C2 exon
GAGAAGCTAGAGCATCAATATGCACAGAGCTATAAGCAGGTCTCAGTGTTAGAAGATGATTTAAGTCAGACTCGGGCCATTAAGGAGCAGTTGCATAAGTATGTGAGAGAGCTGGAGCAGGCCAACGACGACCTGGAGCGAGCCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166579_MULTIEX1-3/4=C1-4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.203 A=0.122 C2=0.017
Domain overlap (PFAM):

C1:
PF079267=TPR_MLP1_2=PU(34.2=93.1)
A:
NO
C2:
PF0218313=HALZ=PD(17.9=10.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTTCTTGATCATGGATGGTGA
R:
CTTTTGGCTCGCTCCAGGTC
Band lengths:
247-401
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development