HsaEX6038394 @ hg38
Exon Skipping
Gene
ENSG00000053747 | LAMA3
Description
laminin subunit alpha 3 [Source:HGNC Symbol;Acc:HGNC:6483]
Coordinates
chr18:23847464-23858829:+
Coord C1 exon
chr18:23847464-23847668
Coord A exon
chr18:23857844-23857988
Coord C2 exon
chr18:23858689-23858829
Length
145 bp
Sequences
Splice sites
3' ss Seq
TTCCTTTACTTTGTGTACAGATG
3' ss Score
7.87
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
CGTGCAGCTGTGGTCGGCGCCTTTGTGAAGAGATGACGGGGCAGTGCCGCTGCCCTCCCCGCACGGTCAGGCCCCAGTGTGAGGTGTGTGAGACACACTCATTCAGCTTCCACCCCATGGCCGGCTGCGAAGGCTGCAACTGTTCCAGGAGGGGCACCATCGAGGCTGCCATGCCGGAGTGTGACCGGGACAGCGGGCAGTGCAG
Seq A exon
ATGCAAGCCCAGAATCACAGGGCGGCAGTGTGACCGATGTGCTTCCGGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCAATTGCAACAGAGATGGGACTGAGCCAGGAGTGTGTGACCCAGGGACCGGGGCTTGCCTCTGCAAG
Seq C2 exon
GAAAATGTAGAAGGCACAGAGTGTAATGTGTGTCGAGAAGGCTCATTCCATTTGGACCCAGCCAATCTCAAGGGTTGTACCAGCTGTTTCTGTTTTGGAGTAAATAATCAATGTCACAGCTCACATAAGCGAAGGACTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000053747-'61-61,'61-59,63-61=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005319=Laminin_EGF=PD(6.1=4.3),PF0005319=Laminin_EGF=PU(46.9=33.3)
A:
PF0005319=Laminin_EGF=PD(51.0=51.0),PF0005319=Laminin_EGF=PU(44.9=44.9)
C2:
PF0005319=Laminin_EGF=PD(51.0=53.2)
Main Skipping Isoform:
ENST00000313654fB3805
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCGCCTTTGTGAAGAGATGA
R:
AGATTGGCTGGGTCCAAATGG
Band lengths:
258-403
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains