HsaEX0067244 @ hg19
Exon Skipping
Gene
ENSG00000125733 | TRIP10
Description
thyroid hormone receptor interactor 10 [Source:HGNC Symbol;Acc:12304]
Coordinates
chr19:6744811-6746572:+
Coord C1 exon
chr19:6744811-6745005
Coord A exon
chr19:6746040-6746207
Coord C2 exon
chr19:6746463-6746572
Length
168 bp
Sequences
Splice sites
3' ss Seq
TCCCCGGCCCCCGCCGGTAGCCT
3' ss Score
4.75
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GACTCCCACGTCCTTATAGAGCTGCACAAGTCAGGTTTTGCCCGCCCGGGCGACGTGGAATTCGAGGACTTCAGCCAGCCCATGAACCGTGCACCCTCCGACAGCAGTCTGGGCACCCCCTCGGATGGACGGCCTGAACTCCGAGGCCCGGGTCGCAGCCGCACCAAGCGCTGGCCTTTTGGCAAGAAGAACAAG
Seq A exon
CCTCGCCCCCCACCCCTCTCCCCCCTGGGGGGCCCCGTACCCTCGGCATTGCCTAACGGACCCCCGTCCCCCCGCTCCGGCCGTGACCCCTTGGCCATACTGAGCGAGATCAGTAAGTCGGTCAAACCGAGGCTAGCATCCTTCCGCAGCCTTCGAGGCAGCCGTGGG
Seq C2 exon
ACAGTGGTGACCGAGGATTTTAGCCACTTGCCCCCAGAGCAGCAGCGAAAACGGCTTCAACAGCAGTTGGAAGAACGCAGTCGTGAACTTCAGAAGGAGGTTGACCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000125733_CASSETTE2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
Show PDB structure
Features
Disorder rate (Iupred):
C1=0.815 A=0.863 C2=0.983
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF143891=Lzipper-MIP1=PU(34.5=78.4)
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGCACAAGTCAGGTTTTGC
R:
TGCGTTCTTCCAACTGCTGTT
Band lengths:
254-422
Functional annotations
There are 3 annotated functions for this event
PMID: 22749400
This event
Differential PPI with CDC42 and TC10. The F-BAR protein CIP-4 has an important role in endocytosis. The second coiled-coil domain of CIP4 (residues 332?425) is required for interaction with the GTPases CDC-42 and TC-10. [From Buljan et al, Mol Cell 2012, Table 2]
PMID: 12242347
Inclusion of exon 10 (MmuEX0048979) makes it interact with TC10 in vitro and in vivo.
PMID: 27851958
The splicing switch in 4 events (CLTC, TMED2, TRIP10, SNAP23) results in multiple structural and functional defects, including transverse tubule (T-tubule) disruption and dihydropyridine receptor alpha (DHPR) and Ryr1 mislocalization, impairing excitation-contraction coupling, calcium handling, and force generation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)