Special

HsaEX0019116 @ hg38

Exon Skipping

Gene
ENSG00000213047 | DENND1B
Description
DENN domain containing 1B [Source:HGNC Symbol;Acc:HGNC:28404]
Coordinates
chr1:197652235-197672156:-
Coord C1 exon
chr1:197672037-197672156
Coord A exon
chr1:197658300-197658369
Coord C2 exon
chr1:197652235-197652315
Length
70 bp
Sequences
Splice sites
3' ss Seq
TTAAAATAATTATTTTACAGTTA
3' ss Score
6.14
5' ss Seq
CTGGTAAGC
5' ss Score
8.69
Exon sequences
Seq C1 exon
GGTGTCTCAGAATCAAGTTGGACAGCACTTTACCTTTGTACTGACAGACATTGAAAGTAAACAGAGATTTGGATTCTGCAGACTGACGTCAGGAGGCACAATTTGTTTATGCATCCTTAG
Seq A exon
TTACCTTCCCTGGTTTGAAGTGTATTACAAGCTTCTAAATACTCTTGCAGATTACTTGGCTAAGGAACTG
Seq C2 exon
GAAAATGATTTGAATGAAACTCTCAGATCACTGTATAACCACCCAGTACCAAAGGCAAATACTCCTGTAAATTTGAGTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000213047-'28-30,'28-25,32-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0345613=uDENN=PD(48.4=73.2),PF0214116=DENN=PU(3.9=17.1)
A:
PF0214116=DENN=FE(12.8=100)
C2:
PF0214116=DENN=FE(14.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGAATCAAGTTGGACAGCACT
R:
TTTGCCTTTGGTACTGGGTGG
Band lengths:
173-243
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