HsaEX0016553 @ hg19
Exon Skipping
Gene
ENSG00000081052 | COL4A4
Description
collagen, type IV, alpha 4 [Source:HGNC Symbol;Acc:2206]
Coordinates
chr2:227924121-227927314:-
Coord C1 exon
chr2:227927246-227927314
Coord A exon
chr2:227924852-227924959
Coord C2 exon
chr2:227924121-227924339
Length
108 bp
Sequences
Splice sites
3' ss Seq
TTGTTTTTATTATTGTTTAGGTC
3' ss Score
10.13
5' ss Seq
CTGGTCAGT
5' ss Score
6.6
Exon sequences
Seq C1 exon
GTGACACAATTTCTTGCAACGTAACCTACCCTGGGAGGCATGGCCCTCCAGGTTTTGATGGACCTCCAG
Seq A exon
GTCCGAAGGGATTTCCAGGTCCCCAAGGTGCCCCTGGGCTGAGTGGTTCAGATGGGCATAAAGGCAGACCTGGCACACCAGGAACAGCGGAAATACCAGGTCCACCTG
Seq C2 exon
GTTTTCGTGGTGACATGGGAGATCCGGGTTTTGGAGGTGAAAAGGGGTCCTCCCCTGTTGGGCCCCCAGGCCCTCCCGGCTCACCAGGAGTGAATGGTCAGAAAGGAATCCCGGGAGACCCTGCATTTGGTCACCTGGGACCCCCGGGAAAGAGGGGTCTTTCAGGAGTGCCAGGGATAAAAGGACCCAGAGGTGATCCGGGATGTCCAGGGGCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000081052_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(5.0=12.5),PF0139113=Collagen=PU(21.7=62.5)
A:
PF0139113=Collagen=FE(52.2=100),PF0139113=Collagen=PU(25.9=40.5)
C2:
PF0139113=Collagen=PD(24.6=23.0),PF0139113=Collagen=PD(72.4=56.8),PF0139113=Collagen=PU(61.6=71.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTAACCTACCCTGGGAGGCAT
R:
CGGATCACCTCTGGGTCCTTT
Band lengths:
249-357
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)