HsaEX6063860 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134806189-134810308:+
Coord C1 exon
chr9:134806189-134806296
Coord A exon
chr9:134809183-134809290
Coord C2 exon
chr9:134810255-134810308
Length
108 bp
Sequences
Splice sites
3' ss Seq
AGATCTTCTGTATTCTCTAGGGC
3' ss Score
9.28
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
GGATCTCCAGGGGAGAGAGGTCCAGCTGGAGCCGCTGGGCCCATCGGAATTCCAGGGAGACCTGGGCCCCAGGGACCCCCAGGGCCGGCAGGAGAGAAAGGGGCTCCT
Seq A exon
GGCGAGAAAGGCCCACAAGGCCCAGCTGGCCGAGACGGTCTCCAGGGGCCTGTGGGGCTCCCGGGTCCAGCTGGCCCTGTGGGTCCCCCTGGAGAAGACGGAGATAAG
Seq C2 exon
GGAGAGATCGGGGAGCCGGGGCAGAAAGGAAGCAAGGGGGACAAAGGAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'94-80,'94-79,96-80=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(25.8=47.2),PF0139113=Collagen=PU(45.1=88.9)
A:
PF0139113=Collagen=FE(38.0=100),PF0139113=Collagen=PU(35.6=88.9)
C2:
PF0139113=Collagen=PD(1.1=5.6),PF0139113=Collagen=FE(18.9=100)
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:
TCCAGGGGAGAGAGGTCCAG
R:
GTTCTCCTTTGTCCCCCTTGC
Band lengths:
155-263
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains