HsaEX6063856 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134811492-134812712:+
Coord C1 exon
chr9:134811492-134811599
Coord A exon
chr9:134812449-134812502
Coord C2 exon
chr9:134812605-134812712
Length
54 bp
Sequences
Splice sites
3' ss Seq
GGGAAGTTTCCTGTTCTCAGGGT
3' ss Score
5.07
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
GGAGCTGACGGCGAGCCGGGGCCTCGGGGCCAGCAGGGCCTTTTCGGGCAGAAAGGTGATGAAGGTCCCAGAGGCTTTCCTGGACCCCCTGGGCCAGTGGGGCTGCAG
Seq A exon
GGTTTGCCAGGACCTCCAGGCGAGAAGGGTGAGACAGGAGACGTGGGCCAGATG
Seq C2 exon
GGCCCCCCGGGTCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTGGTGCAGTGGGAGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'100-86,'100-84,102-86=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(22.2=55.6)
A:
NO
C2:
NO
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:
AGGTGATGAAGGTCCCAGAGG
R:
TTCCTATTCCACCTGGGGGAC
Band lengths:
140-194
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains