HsaEX1022296 @ hg38
Exon Skipping
Gene
ENSG00000136802 | LRRC8A
Description
leucine rich repeat containing 8 family member A [Source:HGNC Symbol;Acc:HGNC:19027]
Coordinates
chr9:128882112-128909321:+
Coord C1 exon
chr9:128882112-128882250
Coord A exon
chr9:128884069-128884339
Coord C2 exon
chr9:128907157-128909321
Length
271 bp
Sequences
Splice sites
3' ss Seq
GGTGGTTCTCCATCCCTTAGGCA
3' ss Score
7.19
5' ss Seq
CAGGTGGGA
5' ss Score
6.71
Exon sequences
Seq C1 exon
ACTTCCGGGGCGGAGGAGGCTGAGTGGTGCAGTGAGGGACAAACAAAAGGAGGCGCCGGAGCAGCGCTGCGGCCGGCGGCGGGACGGAGCGGCCGGGGCCTGGGGCTGCCTGCCGGGCGGCCGGGCGCGGCGAGCCCAG
Seq A exon
GCACACCCACCAGGAAGCCGTTTCCTTTGCAAACTCTTGAATGACCTTTCTGGACTGTAGGGAATCCTGGGGATCACTGCCGTGGGTCAGAACTCAGGGAAGTGGCCGGACCCTGGGTTGCTGCCTGGCTTGGCCTGGACCTTGCCTGTAGGAGTTGGAGGGAAATCAGCCTGGTTCCTGACTGCCTCGTCTTAGAGTAGAGCTGATTCCAGGTTTTCACATGGAGAAACTGAGGCACACACTGATGGGCCAAGACCTCTTGGAGATTCAG
Seq C2 exon
GTTGAACCATGATTCCGGTGACAGAGCTCCGCTACTTTGCGGACACGCAGCCAGCATACCGGATCCTGAAGCCGTGGTGGGATGTGTTCACAGACTACATCTCTATCGTCATGCTGATGATTGCCGTCTTCGGGGGGACGCTGCAGGTCACCCAAGACAAGATGATCTGCCTGCCTTGTAAGTGGGTCACCAAGGACTCCTGCAATGATTCGTTCCGGGGCTGGGCAGCCCCTGGCCCGGAGCCCACCTACCCCAACTCCACCATTCTGCCGACCCCTGACACGGGCCCCACAGGCATCAAGTATGACCTGGACCGGCACCAGTACAACTACGTGGACGCTGTGTGCTATGAGAACCGACTGCACTGGTTTGCCAAGTACTTCCCCTACCTGGTGCTTCTGCACACGCTCATCTTCCTGGCCTGCAGCAACTTCTGGTTCAAATTCCCGCGCACCAGCTCGAAGCTGGAGCACTTTGTGTCTATCCTGCTGAAGTGCTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136802_MULTIEX1-1/5=C1-5
Average complexity
C1
Mappability confidence:
94%=100=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=NA A=NA C2=0.011
Domain overlap (PFAM):
C1:
NA
A:
NA
C2:
PF125343=DUF3733=WD(100=9.0),PF125343=DUF3733=WD(100=8.3),PF127992=LRR_4=WD(100=5.8),PF138551=LRR_8=WD(100=8.5),PF127992=LRR_4=WD(100=6.3),PF138551=LRR_8=PU(18.6=1.5)
Main Inclusion Isoform:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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:
GGTGCAGTGAGGGACAAACAA
R:
GTGACCCACTTACAAGGCAGG
Band lengths:
304-575
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains