Special

HsaEX0036698 @ hg38

Exon Skipping

Gene
ENSG00000136802 | LRRC8A
Description
leucine rich repeat containing 8 family member A [Source:HGNC Symbol;Acc:HGNC:19027]
Coordinates
chr9:128883139-128909321:+
Coord C1 exon
chr9:128883139-128883239
Coord A exon
chr9:128886015-128886121
Coord C2 exon
chr9:128907157-128909321
Length
107 bp
Sequences
Splice sites
3' ss Seq
CAGCTCTCGCTTCCTTGTAGGGA
3' ss Score
7.06
5' ss Seq
GGGGTAAGG
5' ss Score
8.05
Exon sequences
Seq C1 exon
GGGTGGGCGGTTCCTGGGTGAGCCACACTTCCACTGACTCCTCTTCCCCTGCCCTACCTCAGGAAGCCTTTTGAGAATGAGGTGTGGAGGGAGAGCACCTG
Seq A exon
GGAGGCAGCGTCCATGGAGCAAAAGGAATGCCAGGATCCTGCACAGGCAGACGCGGGCCAGCCTCAGCACCGACAGCCGACGCGCAGATAGCAGAGCCATCCTTGGG
Seq C2 exon
GTTGAACCATGATTCCGGTGACAGAGCTCCGCTACTTTGCGGACACGCAGCCAGCATACCGGATCCTGAAGCCGTGGTGGGATGTGTTCACAGACTACATCTCTATCGTCATGCTGATGATTGCCGTCTTCGGGGGGACGCTGCAGGTCACCCAAGACAAGATGATCTGCCTGCCTTGTAAGTGGGTCACCAAGGACTCCTGCAATGATTCGTTCCGGGGCTGGGCAGCCCCTGGCCCGGAGCCCACCTACCCCAACTCCACCATTCTGCCGACCCCTGACACGGGCCCCACAGGCATCAAGTATGACCTGGACCGGCACCAGTACAACTACGTGGACGCTGTGTGCTATGAGAACCGACTGCACTGGTTTGCCAAGTACTTCCCCTACCTGGTGCTTCTGCACACGCTCATCTTCCTGGCCTGCAGCAACTTCTGGTTCAAATTCCCGCGCACCAGCTCGAAGCTGGAGCACTTTGTGTCTATCCTGCTGAAGTGCTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000136802-'3-14,'3-4,7-14
Average complexity
C1
Mappability confidence:
100%=83=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
Other assemblies
Conservation
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:
TTCCACTGACTCCTCTTCCCC
R:
CCACTTACAAGGCAGGCAGAT
Band lengths:
258-365
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