HsaEX1002535 @ hg38
Exon Skipping
Gene
ENSG00000075624 | ACTB
Description
actin beta [Source:HGNC Symbol;Acc:HGNC:132]
Coordinates
chr7:5528281-5529400:-
Coord C1 exon
chr7:5529161-5529400
Coord A exon
chr7:5529019-5529059
Coord C2 exon
chr7:5528281-5528719
Length
41 bp
Sequences
Splice sites
3' ss Seq
TCTTCTGCCGTTTTCCGTAGGAC
3' ss Score
12.16
5' ss Seq
CAGGTTCTA
5' ss Score
0.74
Exon sequences
Seq C1 exon
GGCGTGATGGTGGGCATGGGTCAGAAGGATTCCTATGTGGGCGACGAGGCCCAGAGCAAGAGAGGCATCCTCACCCTGAAGTACCCCATCGAGCACGGCATCGTCACCAACTGGGACGACATGGAGAAAATCTGGCACCACACCTTCTACAATGAGCTGCGTGTGGCTCCCGAGGAGCACCCCGTGCTGCTGACCGAGGCCCCCCTGAACCCCAAGGCCAACCGCGAGAAGATGACCCAG
Seq A exon
GACTCTCTTCTCTGACCTGAGTCTCCTTTGGAACTCTGCAG
Seq C2 exon
ATCATGTTTGAGACCTTCAACACCCCAGCCATGTACGTTGCTATCCAGGCTGTGCTATCCCTGTACGCCTCTGGCCGTACCACTGGCATCGTGATGGACTCCGGTGACGGGGTCACCCACACTGTGCCCATCTACGAGGGGTATGCCCTCCCCCATGCCATCCTGCGTCTGGACCTGGCTGGCCGGGACCTGACTGACTACCTCATGAAGATCCTCACCGAGCGCGGCTACAGCTTCACCACCACGGCCGAGCGGGAAATCGTGCGTGACATTAAGGAGAAGCTGTGCTACGTCGCCCTGGACTTCGAGCAAGAGATGGCCACGGCTGCTTCCAGCTCCTCCCTGGAGAAGAGCTACGAGCTGCCTGACGGCCAGGTCATCACCATTGGCAATGAGCGGTTCCGCTGCCCTGAGGCACTCTTCCAGCCTTCCTTCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000075624_CASSETTE1
Average complexity
S
Mappability confidence:
50%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.212 A=1.000 C2=0.002
Domain overlap (PFAM):
C1:
PF0002214=Actin=FE(21.1=100)
A:
PF0002214=Actin=PD(1.6=40.0)
C2:
PF0002214=Actin=FE(39.0=100)
Other Inclusion Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTGGCACCACACCTTCTACA
R:
GTACATGGCTGGGGTGTTGAA
Band lengths:
146-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains