Special

HsaEX0065112 @ hg38

Exon Skipping

Gene
Description
tousled like kinase 1 [Source:HGNC Symbol;Acc:HGNC:11841]
Coordinates
chr2:171082781-171117857:-
Coord C1 exon
chr2:171117739-171117857
Coord A exon
chr2:171091614-171092227
Coord C2 exon
chr2:171082781-171082852
Length
614 bp
Sequences
Splice sites
3' ss Seq
GGATTTTTTTTCTTTGGCAGAAA
3' ss Score
7.22
5' ss Seq
TAGGTATGG
5' ss Score
7.37
Exon sequences
Seq C1 exon
GTGCAATGGATGAGCTTCATAGTCTGGATCCAAGAAGGCAAGAGTTATTGGAAGCTAGATTTACTGGAGTTGCAAGTGGGAGCACTGGAAGTACGGGCAGTTGCAGTGTTGGAGCTAAA
Seq A exon
AAATAAACCCCAGCTCTCTAGCTACCTTGAGCAAAGAAGGGAAGTTATTGATCGAATATCAGTCAATTCACAGAATGATTTGGAAGCCTGGAAGACCAGAGTTGCACAGGAACCAGGGCAACCTTGGGTGATGAAGCAACAGAAACTGCTCATCCTTTTGATTGTGGGATCTCCAGTGGATTAAAAAAAAAAAGACGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGCGGATCACGAGGTCAGGAGATTGAGACCACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGATAGGAGAACGGCATGGACCCAGGAGGCGGAGCTTGCAGTTAGCCGAGATCATGCCACTGCACTCCAGCCTGGGAGACAGAGTGAGACTCCGTCTAAACAACAACAACAACAACAACAACAACAACAACAACAACAACAACAAAGACACCCCCCCGCCATCCCATGCTTATTATATCATTCCTTTGAGATTCAAACTTCTGGGGAAGAGAGTTGATTAATTTTCCCCTTTGTTTCTCGATTATAG
Seq C2 exon
GCCTCAACAAATAACGAAAGCTCTAATCACAGTTTTGGAAGCTTGGGATCTTTAAGTGACAAAGAATCAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000198586_MULTIEX2-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.991 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:
ENST00000360843fB7088


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCAATGGATGAGCTTCATAGT
R:
TCTGATTCTTTGTCACTTAAAGATCC
Band lengths:
190-804
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