HsaEX6063848 @ hg19
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137710502-137710899:+
Coord C1 exon
chr9:137710502-137710609
Coord A exon
chr9:137710694-137710747
Coord C2 exon
chr9:137710846-137710899
Length
54 bp
Sequences
Splice sites
3' ss Seq
AGAGCGTCTCTGTGTTTCAGGGA
3' ss Score
8.38
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGAGAAGCCGGCTTGGAAGGCCCTCCTGGGAAGACTGGCCCCATCGGCCCCCAGGGGGCCCCTGGGAAGCCCGGACCGGATGGCCTTCGAGGGATCCCTGGCCCTGTG
Seq A exon
GGAGAACAAGGTCTCCCAGGATCCCCAGGCCCGGACGGTCCCCCCGGCCCCATG
Seq C2 exon
GGTCCCCCAGGACTTCCCGGCCTCAAAGGAGATTCTGGTCCCAAAGGTGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'71-72,'71-71,72-72=AN
Average complexity
A_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:
NO
A:
NO
C2:
PF0139113=Collagen=PU(25.4=94.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAAGCCGGCTTGGAAGG
R:
CAGAATCTCCTTTGAGGCCGG
Band lengths:
144-198
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)