HsaEX6063858 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134810255-134811599:+
Coord C1 exon
chr9:134810255-134810308
Coord A exon
chr9:134811339-134811392
Coord C2 exon
chr9:134811492-134811599
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTCTGTCTTGTTCCCCGCAGGGT
3' ss Score
12.74
5' ss Seq
TCTGTGAGT
5' ss Score
7
Exon sequences
Seq C1 exon
GGAGAGATCGGGGAGCCGGGGCAGAAAGGAAGCAAGGGGGACAAAGGAGAACAG
Seq A exon
GGTCCTCCTGGGCCTACAGGTCCTCAAGGCCCCATCGGACAGCCAGGCCCCTCT
Seq C2 exon
GGAGCTGACGGCGAGCCGGGGCCTCGGGGCCAGCAGGGCCTTTTCGGGCAGAAAGGTGATGAAGGTCCCAGAGGCTTTCCTGGACCCCCTGGGCCAGTGGGGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'97-83,'97-82,99-83=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:
PF0139113=Collagen=PD(1.1=5.6),PF0139113=Collagen=FE(18.9=100)
A:
PF0139113=Collagen=FE(18.9=100)
C2:
PF0139113=Collagen=PD(22.2=55.6)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGAGATCGGGGAGCCGG
R:
AGGAAAGCCTCTGGGACCTTC
Band lengths:
134-188
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains