HsaEX0064639 @ hg38
Exon Skipping
Gene
ENSG00000114126 | TFDP2
Description
transcription factor Dp-2 [Source:HGNC Symbol;Acc:HGNC:11751]
Coordinates
chr3:141978520-141995141:-
Coord C1 exon
chr3:141995020-141995141
Coord A exon
chr3:141993538-141993585
Coord C2 exon
chr3:141978520-141978682
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-'43-75,'43-66,47-75
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.427 A=0.430 C2=0.336
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0231915=E2F_TDP=PU(55.4=83.6)
Main Skipping Isoform:
ENST00000467072fB27947
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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
Nuclear location when included and cytosolic when skipped. This forms heterodimer with E2F1 and translocates it to the nucleus.
PMID: 31771184
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