HsaEX6063892 @ hg19
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137593017-137620653:+
Coord C1 exon
chr9:137593017-137593179
Coord A exon
chr9:137619112-137619243
Coord C2 exon
chr9:137620516-137620653
Length
132 bp
Sequences
Splice sites
3' ss Seq
GAGCGTCTCTTCTTTTCCAGGGT
3' ss Score
9.58
5' ss Seq
TATGTGAGT
5' ss Score
5.56
Exon sequences
Seq C1 exon
GTGGCACAGAATTGCTCTCAGCGTCCACAAGAAAAATGTCACCTTGATCCTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAGCGACCACCCCATGATCGACATCAATGGCATCATCGTGTTTGGCACCCGGATCCTGGATGAGGAGGTGTTTGAG
Seq A exon
GGTGACATCCAGCAGCTGCTCTTTGTCTCGGACCACCGGGCAGCTTATGATTACTGTGAGCACTACAGCCCTGACTGTGACACCGCAGTACCTGACACCCCACAGTCGCAGGACCCCAATCCAGATGAATAT
Seq C2 exon
TACACGGAAGGAGACGGCGAGGGTGAGACCTATTACTACGAATACCCCTACTACGAAGACCCCGAAGACCTAGGGAAGGAGCCCACCCCCAGCAAGAAGCCCGTGGAAGCTGCCAAAGAAACCACAGAGGTCCCCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'7-10,'7-9,10-10=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.455 C2=0.978
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(44.3=100)
A:
PF0221019=Laminin_G_2=PD(8.2=22.7)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCACAGAATTGCTCTCAGC
R:
CTCCTTCCCTAGGTCTTCGGG
Band lengths:
243-375
Functional annotations
There are 1 annotated functions for this event
PMID: 12145749
This event
[Not physiological]. Pro-alpha1(V) chains with abnormal N-propeptides were secreted and were incorporated into extracellular matrix, and the mutation resulted in dramatic alterations in collagen fibril structure. Note: also refers to a cryptic splice site.
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)