HsaEX1002545 @ hg38
Exon Skipping
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68921006-68925672:-
Coord C1 exon
chr14:68925558-68925672
Coord A exon
chr14:68921458-68921492
Coord C2 exon
chr14:68921006-68921125
Length
35 bp
Sequences
Splice sites
3' ss Seq
TTTGTGTTTCTCTATTTAAGGTC
3' ss Score
11.98
5' ss Seq
AAGGCAAGA
5' ss Score
2.81
Exon sequences
Seq C1 exon
ACATTCACGGCATGGTGTAACTCCCACCTCCGGAAGGCGGGGACACAGATCGAGAACATCGAAGAGGACTTCCGGGATGGCCTGAAGCTCATGCTGCTGCTGGAGGTCATCTCAG
Seq A exon
GTCTGTCTCTCCTACTGGACTGTAATTACATAAAG
Seq C2 exon
GTGAACGCTTGGCCAAGCCAGAGCGAGGCAAGATGAGAGTGCACAAGATCTCCAACGTCAACAAGGCCCTGGATTTCATAGCCAGCAAAGGCGTCAAACTGGTGTCCATCGGAGCCGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.003 A=0.000 C2=0.017
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(10.1=77.8)
A:
PF0030726=CH=FE(18.3=100)
C2:
PF0030726=CH=PD(11.7=58.3)
Main Inclusion Isoform:
ENST00000394419fB8624
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
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:
TCGAAGAGGACTTCCGGGATG
R:
GGCCTTGTTGACGTTGGAGAT
Band lengths:
125-160
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains