HsaEX1009431 @ hg38
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen type IV alpha 4 chain [Source:HGNC Symbol;Acc:HGNC:2206]
Coordinates
chr2:227082115-227088816:-
Coord C1 exon
chr2:227088653-227088816
Coord A exon
chr2:227087966-227088063
Coord C2 exon
chr2:227082115-227082187
Length
98 bp
Sequences
Splice sites
3' ss Seq
AAGTGCCTGCTATGTTCTAGGCC
3' ss Score
6.4
5' ss Seq
CAAGTAAAT
5' ss Score
4.44
Exon sequences
Seq C1 exon
GAAATGAAGGACTCTGTGCCTGTGAGCCTGGACCCATGGGCCCCCCTGGCCCTCCAGGACTTCCTGGGAGGCAGGGGAGTAAGGGAGACTTGGGGCTCCCTGGCTGGCTTGGAACAAAAGGTGACCCAGGACCTCCTGGTGCTGAAGGACCTCCAGGGCTACCA
Seq A exon
GCCTTGTTTCAGGTGCTGGGGATACAGCAGGGACCAGAGCCCAGTCTCTGCCCTCCTAGAGCTTCAGAGAGGACACAGACCATCTAACAGATCAGCAA
Seq C2 exon
GGAAAGCATGGTGCCTCTGGACCACCTGGCAACAAAGGGGCGAAGGGTGACATGGTTGTATCAAGAGTTAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_MULTIEX2-3/4=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(10.9=12.7),PF0139113=Collagen=PU(89.1=89.1)
A:
PF0139113=Collagen=PD(1.9=3.4)
C2:
PF0139113=Collagen=PD(25.8=68.0),PF0139113=Collagen=PU(29.0=72.0)
Main Inclusion Isoform:
ENST00000396625fB12795
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:
TGAAGGACTCTGTGCCTGTGA
R:
GTCCAGAGGCACCATGCTTTC
Band lengths:
182-280
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains