HsaEX0007365 @ hg38
Exon Skipping
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57801144-57803391:-
Coord C1 exon
chr12:57803247-57803391
Coord A exon
chr12:57802184-57802348
Coord C2 exon
chr12:57801144-57801212
Length
165 bp
Sequences
Splice sites
3' ss Seq
TTAAATCTCCACCTTAACAGGTG
3' ss Score
8.15
5' ss Seq
CTAGCCTGG
5' ss Score
-19.18
Exon sequences
Seq C1 exon
ACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAG
Seq A exon
GTGTTCTTGTGGATTGGGGCTGAGGCCAATGCCACGGAGAAGGAGAGTGCCCTTGCCACAGCACAGCAGTACCTGCACACTCACCCCAGCGGCCGAGATCCCGACACACCAATCCTGATCATTAAGCAGGGGTTTGAGCCTCCCATCTTCACAGGCTGGTTCCTA
Seq C2 exon
GCAGGAAAAACATATGAACAATTAAAAGAAGAGCTGGGAGATGCTGCTGCTATCATGCGAATCACTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407_MULTIEX2-1/3=C1-2
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.151 C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(34.2=55.1)
A:
PF0062617=Gelsolin=PD(63.3=79.4)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGCAGGAAATCCTAGATGTCCA
R:
AGCAGTGATTCGCATGATAGCA
Band lengths:
211-376
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development