HsaEX6063861 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134805161-134809290:+
Coord C1 exon
chr9:134805161-134805214
Coord A exon
chr9:134806189-134806296
Coord C2 exon
chr9:134809183-134809290
Length
108 bp
Sequences
Splice sites
3' ss Seq
GTTTTCTTGCTCCACCTCAGGGA
3' ss Score
8.24
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGAGCTCTTGGACTGAAAGGCAATGAAGGGCCCCCTGGCCCACCAGGCCCTGCG
Seq A exon
GGATCTCCAGGGGAGAGAGGTCCAGCTGGAGCCGCTGGGCCCATCGGAATTCCAGGGAGACCTGGGCCCCAGGGACCCCCAGGGCCGGCAGGAGAGAAAGGGGCTCCT
Seq C2 exon
GGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCCGGGTCCAGCTGGCCCTGTGGGTCCCCCTGGAGAAGACGGAGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'93-79,'93-77,94-79
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=FE(17.9=100),PF0139113=Collagen=PU(18.5=94.4)
A:
PF0139113=Collagen=PD(25.8=47.2),PF0139113=Collagen=PU(45.1=88.9)
C2:
PF0139113=Collagen=FE(38.0=100),PF0139113=Collagen=PU(35.6=88.9)
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:
GGAGCTCTTGGACTGAAAGGC
R:
CTTATCTCCGTCTTCTCCAGGGG
Band lengths:
162-270
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains