Special

HsaEX0042215 @ hg19

Exon Skipping

Gene
Description
nudE nuclear distribution E homolog (A. nidulans)-like 1 [Source:HGNC Symbol;Acc:17620]
Coordinates
chr17:8347578-8349182:+
Coord C1 exon
chr17:8347578-8347675
Coord A exon
chr17:8348272-8348358
Coord C2 exon
chr17:8349029-8349182
Length
87 bp
Sequences
Splice sites
3' ss Seq
TTTCCTATTTTGGTTAACAGAGT
3' ss Score
7.28
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
Exon sequences
Seq C1 exon
GCTTTCTTGATCATGGATGGTGAAGATATACCAGATTTTTCAAGTTTAAAGGAGGAAACTGCTTATTGGAAGGAACTTTCCTTGAAGTATAAGCAAAG
Seq A exon
AGTTTACTAAGTCTTATCAAACCTTTTACTGCCCTTTCATTATTATCACCGAAGTCAGTTATTCTATTGTGCCAGTGGATATGAAAG
Seq C2 exon
CTTCCAGGAAGCTCGGGATGAGCTAGTTGAATTCCAGGAAGGAAGCAGAGAATTAGAAGCAGAGTTGGAGGCACAATTAGTACAGGCTGAACAAAGAAATAGAGACTTGCAGGCTGATAACCAAAGACTGAAATATGAAGTGGAGGCATTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166579_MULTIEX1-1/2=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.132 A=0.000 C2=0.108
Domain overlap (PFAM):

C1:
PF079267=TPR_MLP1_2=PU(34.2=93.1),PF152721=BBP1_C=PU(12.1=58.6),PF102414=KxDL=PU(10.0=24.1),PF104734=CENP-F_leu_zip=PU(7.2=34.5)
A:
NO
C2:
PF079267=TPR_MLP1_2=FE(64.6=100),PF152721=BBP1_C=FE(37.2=100),PF104734=CENP-F_leu_zip=FE(39.8=100),PF102414=KxDL=FE(72.9=100),PF138701=DUF4201=PU(34.4=59.6),PF0218313=HALZ=PU(75.0=40.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
GCTTTCTTGATCATGGATGGTGA
R:
TTGTGCCTCCAACTCTGCTTC
Band lengths:
174-261
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