HsaEX0035218 @ hg38
Exon Skipping
Gene
ENSG00000053747 | LAMA3
Description
laminin subunit alpha 3 [Source:HGNC Symbol;Acc:HGNC:6483]
Coordinates
chr18:23819841-23822375:+
Coord C1 exon
chr18:23819841-23819997
Coord A exon
chr18:23821907-23822041
Coord C2 exon
chr18:23822252-23822375
Length
135 bp
Sequences
Splice sites
3' ss Seq
TGCCTTTTTATTTTTCCTAGCCA
3' ss Score
6.94
5' ss Seq
ATTGTAAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
GCCTGAAAACAACTACTATTTCCCAGATTTGCATCATATGAAGTATGAGATTGAAGACGGCAGCACACCTAATGGGAGAGACCTTCGATTTGGATTTGATCCGCTGGCATTTCCTGAGTTTAGCTGGAGAGGATATGCCCAAATGACCTCAGTACAG
Seq A exon
CCAGTGGTGGTTGCTCCGTCACTGTGGCTTTCTTAAACTAGCCCATCTAATACTCCACTCTGTCTGCCTGATTACAAAAAGGTCAAAAGAGGATCTCAGTTGCTGAGGGAGTGCGTTTTCACTGTAATTTTGATT
Seq C2 exon
AATGATGTAAGAATAACATTGAATGTAGGGAAGTCAAGTGGCTCCTTGTTTCGTGTTATTCTGAGATACGTTAACCCTGGAACTGAAGCAGTATCTGGCCATATAACTATTTATCCATCCTGGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000053747_CASSETTE5
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.019 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005319=Laminin_EGF=PD(29.8=26.4)
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000313654fB3801
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCTGAAAACAACTACTATTTCCCA
R:
GGCCAGATACTGCTTCAGTTCC
Band lengths:
257-392
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