HsaEX6038393 @ hg38
Exon Skipping
Gene
ENSG00000053747 | LAMA3
Description
laminin subunit alpha 3 [Source:HGNC Symbol;Acc:HGNC:6483]
Coordinates
chr18:23857844-23861807:+
Coord C1 exon
chr18:23857844-23857988
Coord A exon
chr18:23858689-23858829
Coord C2 exon
chr18:23861646-23861807
Length
141 bp
Sequences
Splice sites
3' ss Seq
TTCATGTTTTGCTTCAATAGGAA
3' ss Score
9.04
5' ss Seq
AAGGTATGC
5' ss Score
9.55
Exon sequences
Seq C1 exon
ATGCAAGCCCAGAATCACAGGGCGGCAGTGTGACCGATGTGCTTCCGGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCAATTGCAACAGAGATGGGACTGAGCCAGGAGTGTGTGACCCAGGGACCGGGGCTTGCCTCTGCAAG
Seq A exon
GAAAATGTAGAAGGCACAGAGTGTAATGTGTGTCGAGAAGGCTCATTCCATTTGGACCCAGCCAATCTCAAGGGTTGTACCAGCTGTTTCTGTTTTGGAGTAAATAATCAATGTCACAGCTCACATAAGCGAAGGACTAAG
Seq C2 exon
TTTGTGGATATGCTGGGCTGGCACCTGGAGACAGCAGACAGAGTGGACATCCCTGTCTCTTTCAACCCAGGCAGCAACAGTATGGTGGCGGATCTCCAGGAGCTGCCCGCAACCATCCACAGCGCGTCCTGGGTCGCACCCACCTCCTACCTGGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000053747-'63-62,'63-61,65-62
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0005319=Laminin_EGF=PD(51.0=51.0),PF0005319=Laminin_EGF=PU(44.9=44.9)
A:
PF0005319=Laminin_EGF=PD(51.0=53.2)
C2:
PF0005213=Laminin_B=PU(8.1=20.4)
Main Skipping Isoform:
ENST00000313654fB18619
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCAAGCCCAGAATCACAGG
R:
CTGGAGATCCGCCACCATACT
Band lengths:
244-385
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains