Special

HsaEX0042210 @ hg38

Exon Skipping

Gene
Description
nudE neurodevelopment protein 1 like 1 [Source:HGNC Symbol;Acc:HGNC:17620]
Coordinates
chr17:8413131-8444357:+
Coord C1 exon
chr17:8413131-8413269
Coord A exon
chr17:8443927-8444176
Coord C2 exon
chr17:8444260-8444357
Length
250 bp
Sequences
Splice sites
3' ss Seq
TTCTGTCTCCCGATTCGCAGAAG
3' ss Score
7.53
5' ss Seq
GCAGTTCAG
5' ss Score
-18.14
Exon sequences
Seq C1 exon
ATTTCCCATCCTTGCGTATCTTTGGTCGGACGGTGATTCTCACTCTTCCTATTGACTTCTACTTTGTGTCAGCAAGTTCAGCGTGGGCCCCGTATGCTGCCGTGGATCTGATCAGCTGAGGCCTGAGACACAGGACCAG
Seq A exon
AAGACCACGTGGCCTTAAACCAACTGCTGCAACTCTGTGTGCAGGATGATTCTGTGGGCCCAAGTCACCCAGCGCCTATGCTGCAACCAAAAGTGCCTCCTGTCGCTTTGTATCAAAGGACCTTTGTCATGATCTCATTCACAATATTGGTGGTCCCTGAGAGTGGAGCAGTGGAGTGATTGACGTGCCTGAGTTTGAAGAGAGTTAACCACTGGAATCTCTCATGTTTTATTCCCTCCAAAATGCTGCA
Seq C2 exon
GCTTTCTTGATCATGGATGGTGAAGATATACCAGATTTTTCAAGTTTAAAGGAGGAAACTGCTTATTGGAAGGAACTTTCCTTGAAGTATAAGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166579_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

In the CDS, with uncertain impact

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.138 C2=0.203
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
PF079267=TPR_MLP1_2=PU(34.2=93.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTCCCATCCTTGCGTATCTTTGG
R:
CTTTGCTTATACTTCAAGGAAAGTTC
Band lengths:
236-486
Functional annotations
There are 0 annotated functions for this event


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