HsaEX1005324 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57814152-57816471:-
Coord C1 exon
chr12:57815975-57816471
Coord A exon
chr12:57815578-57815692
Coord C2 exon
chr12:57814152-57814226
Length
115 bp
Sequences
Splice sites
3' ss Seq
CAGTGAGTCTGCACTTGCAGGAA
3' ss Score
4.01
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
AGAGTGTGATCTTGTACAAGTTATTCAGCCTTTGCAAACCTCAGATTCACACAATGTAAGATGAAGAAACTCACCTTCTGAAAATTAGAGATAACATATGCAAAGTGAATCAATACAGGGCTTAACATATTTATCACCCCTTTGGTAAATAACCATGACGATTACCAGAGCTCTTAAGGGCAATGGCAGGTGGGAAGCAGAACTCATGGGTGGTAATCCCCAGGCCAGCCAGGCTCACCATGTGCACTTGGACAAGTCCTTGCCCCCATCATTGTGAAATGGTGCAGGGATGCACCATGAGGGTGTGGCAGGATGGCTGACAACAGACTGGGAAGCAGCTCGGCAGAAAAACTGGATTGATGCCCACTATGGCAAGAGATATCATCTCCCCTCTTGTTCTGTGATGTTTCAGTCCTGGAAAGACAAGCATCATGCCTCTGACCAGTGCCTTCAGGGCTGTGGACAACGACCCTGGGATCATTGTCTGGAGAATAGAG
Seq A exon
GAAACACCCTGGAAAGACAGGTGGGACCTACTCAGCAGACTCCTGGCAGCTTCCATCAGAGAAATGGAACATGTCTTCCACGGGGCACCCTGGCTCCTACAAAATATGGGGAGAG
Seq C2 exon
AAAATGGAGCTGGCGCTGGTGCCTGTGAGCGCCCACGGCAACTTCTATGAGGGGGACTGCTACGTCATCCTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX1-1/2=C1-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.010 A=0.000 C2=0.060
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062617=Gelsolin=PU(28.9=96.0)
Other Inclusion Isoforms:
NA
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:
CAACAGACTGGGAAGCAGCTC
R:
AGAGGATGACGTAGCAGTCCC
Band lengths:
250-365
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains