Special

MmuEX0048979 @ mm9

Exon Skipping

Gene
Description
thyroid hormone receptor interactor 10 [Source:MGI Symbol;Acc:MGI:2146901]
Coordinates
chr17:57394696-57396767:+
Coord C1 exon
chr17:57394696-57394890
Coord A exon
chr17:57396283-57396450
Coord C2 exon
chr17:57396658-57396767
Length
168 bp
Sequences
Splice sites
3' ss Seq
TCCTGGGCTCCCACGGTTAGCCA
3' ss Score
1.65
5' ss Seq
GGGGTAAGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GACTCACAGGTCCTCATCGAATTACACAAGTCCGGGTTTGCCCGCCCAGGGGACTTGGAATTTGAAGACTTTAGCCAAGTTATCAACCGAGTGCCTTCGGACAGCAGCCTGGGCACCCCGGATGGCAGGCCTGAGCTCCGAGCAGCCTCCAGCCGTAGCCGCGCCAAGCGTTGGCCTTTCGGGAAAAAGAACAAG
Seq A exon
CCACGTCCCCCATCCCTGTCCCTCCTGGGGGGTCACCTACCCTCCACACTGTCTGATGGACCCTCATCCCCCCGTTCTGGCCGCGACCCCTTGGCCATACTGAGCGAGATCAGTAAGTCGGTCAAACCGCGGCTAGCATCCTTCCGCAGCTTCCGAGGTGGCCGTGGG
Seq C2 exon
ACCGTGGCTACCGAAGATTTCAGTCACTTGCCCCCGGAGCAGCAGAGAAAGCGACTTCAGCAACAGCTGGAAGAGCGGAACCGAGAGTTGCAGAAGGAGGAGGACCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSMUSG00000019487_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.538 A=0.750 C2=0.991
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF143891=Lzipper-MIP1=PU(34.5=78.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCAGGGGACTTGGAATTTG
R:
CAACTCTCGGTTCCGCTCTTC
Band lengths:
242-410
Functional annotations
There are 3 annotated functions for this event
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
PMID: 22749400
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]


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Pre-implantation embryo development
  • Neural differentiation time course
  • Muscular differentiation time course
  • Spermatogenesis cell types
  • Reprogramming of fibroblasts to iPSCs
  • Hematopoietic precursors and cell types