HsaEX1005325 @ 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
chr12:57815257-57815352
Coord C2 exon
chr12:57814152-57814226
Length
96 bp
Sequences
Splice sites
3' ss Seq
ACTTCACTATCCTCAACCAGGAG
3' ss Score
6.93
5' ss Seq
CAGGTACTG
5' ss Score
9.04
Exon sequences
Seq C1 exon
AGAGTGTGATCTTGTACAAGTTATTCAGCCTTTGCAAACCTCAGATTCACACAATGTAAGATGAAGAAACTCACCTTCTGAAAATTAGAGATAACATATGCAAAGTGAATCAATACAGGGCTTAACATATTTATCACCCCTTTGGTAAATAACCATGACGATTACCAGAGCTCTTAAGGGCAATGGCAGGTGGGAAGCAGAACTCATGGGTGGTAATCCCCAGGCCAGCCAGGCTCACCATGTGCACTTGGACAAGTCCTTGCCCCCATCATTGTGAAATGGTGCAGGGATGCACCATGAGGGTGTGGCAGGATGGCTGACAACAGACTGGGAAGCAGCTCGGCAGAAAAACTGGATTGATGCCCACTATGGCAAGAGATATCATCTCCCCTCTTGTTCTGTGATGTTTCAGTCCTGGAAAGACAAGCATCATGCCTCTGACCAGTGCCTTCAGGGCTGTGGACAACGACCCTGGGATCATTGTCTGGAGAATAGAG
Seq A exon
GAGGGGGAGTCAGCTCTCCAGCAAGCCTCGCAGAGATTGTGAGTCCCAGGTCACTTCCACTGTTTGAAGGCTTCCAGTTTCCTTAAAAACTAACAG
Seq C2 exon
AAAATGGAGCTGGCGCTGGTGCCTGTGAGCGCCCACGGCAACTTCTATGAGGGGGACTGCTACGTCATCCTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX1-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.010 A=0.154 C2=0.060
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0062617=Gelsolin=PU(28.9=96.0)
Main Inclusion Isoform:
ENST00000549994fB10313
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:
TCTCCCCTCTTGTTCTGTGATGT
R:
ACGTAGCAGTCCCCCTCATAG
Band lengths:
178-274
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains