Special

HsaEX0064639 @ hg19

Exon Skipping

Gene
Description
transcription factor Dp-2 (E2F dimerization partner 2) [Source:HGNC Symbol;Acc:11751]
Coordinates
chr3:141697362-141713983:-
Coord C1 exon
chr3:141713862-141713983
Coord A exon
chr3:141712380-141712427
Coord C2 exon
chr3:141697362-141697524
Length
48 bp
Sequences
Splice sites
3' ss Seq
CTATCTTTTTTCCTTTTTAGTGA
3' ss Score
11.07
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ATTATAAGCACACCACAGAGACTAACCAGTTCAGGAAGTGTTCTGATTGGGAGTCCATATACCCCTGCACCAGCAATGGTTACTCAGACACACATAGCAGAAGCTACTGGCTGGGTCCCTGG
Seq A exon
TGATAGAAAACGGGCTAGAAAATTTATAGACTCTGATTTTTCAGAAAG
Seq C2 exon
TAAACGAAGCAAAAAAGGAGATAAAAATGGGAAAGGCTTGAGACACTTTTCAATGAAAGTGTGTGAGAAAGTTCAACGAAAAGGTACAACATCGTACAATGAAGTCGCTGATGAGCTGGTGTCAGAGTTCACCAATTCAAATAACCATTTGGCTGCTGATTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000114126_MULTIEX1-7/7=6-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.434 A=0.491 C2=0.342
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0231915=E2F_TDP=PU(55.4=83.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGAAGTGTTCTGATTGGGAGTCC
R:
AAGTGTCTCAAGCCTTTCCCA
Band lengths:
137-185
Functional annotations
There are 2 annotated functions for this event
PMID: 8923205
This event
Nuclear location when included and cytosolic when skipped. This forms heterodimer with E2F1 and translocates it to the nucleus.
PMID: 31771184
This event
Overexpression of two splice isoforms of E2F dimerization partner 2 (Tfdp2) isoforms, splicing of which is regulated by Nova2, in HeLa cells show that the presence/absence of cassette exon HsaEX0064639 affects subcellular localization (absence of exon shifts the localization from exclusively nuclear to both nuclues and cytosol), interaction with E2F1 (absence of exon reduces interaction), and expression of Dll4 mRNA (E2F1 has known binding sites in the Dll4 promoter), with the isoform containing the exon leading to higher expression of Dll4 mRNA than the isoform without it.


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development