Special

HsaEX1018034 @ hg38

Exon Skipping

Gene
Description
integrin subunit beta 2 [Source:HGNC Symbol;Acc:HGNC:6155]
Coordinates
chr21:44906915-44910372:-
Coord C1 exon
chr21:44910284-44910372
Coord A exon
chr21:44908074-44908182
Coord C2 exon
chr21:44906915-44907095
Length
109 bp
Sequences
Splice sites
3' ss Seq
CTCAATTTTGCGTCCCACAGGGA
3' ss Score
8.28
5' ss Seq
CAGGTGGAA
5' ss Score
1.62
Exon sequences
Seq C1 exon
TCCTCTCTCAGGAGTGCACGAAGTTCAAGGTCAGCAGCTGCCGGGAATGCATCGAGTCGGGGCCCGGCTGCACCTGGTGCCAGAAGCTG
Seq A exon
GGAGCGGCTTTGGGTCCTCCAGCCCACGCCACCGCGGCGAGCAGTCCCCGGAGGAGAAGCCGGGTGGCTCCCGTCTGTCCTCGGACTGAGCAGGGTGGCCAGGCCCCAG
Seq C2 exon
AACTTCACAGGGCCGGGGGATCCTGACTCCATTCGCTGCGACACCCGGCCACAGCTGCTCATGAGGGGCTGTGCGGCTGACGACATCATGGACCCCACAAGCCTCGCTGAAACCCAGGAAGACCACAATGGGGGCCAGAAGCAGCTGTCCCCACAAAAAGTGACGCTTTACCTGCGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160255_MULTIEX1-6/8=5-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.024 A=0.615 C2=0.332
Domain overlap (PFAM):

C1:
PF0143720=PSI=PU(83.3=83.3),PF0036213=Integrin_beta=PU(35.4=56.7)
A:
PF0143720=PSI=PD(42.6=54.1),PF0036213=Integrin_beta=PD(60.4=78.4)
C2:
PF0036213=Integrin_beta=FE(75.9=100),PF0036213=Integrin_beta=PU(3.1=14.8)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
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:
TCTCTCAGGAGTGCACGAAGT
R:
TTTTTGTGGGGACAGCTGCTT
Band lengths:
245-354
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains