HsaEX6063862 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134804975-134806296:+
Coord C1 exon
chr9:134804975-134805064
Coord A exon
chr9:134805161-134805214
Coord C2 exon
chr9:134806189-134806296
Length
54 bp
Sequences
Splice sites
3' ss Seq
ACCTTTTCATGGCTTTGCAGGGA
3' ss Score
9.78
5' ss Seq
GCGGTGAGT
5' ss Score
10.49
Exon sequences
Seq C1 exon
GGTGACCCAGGCCCTGCAGGCCTCCCTGGGAAAGATGGCCCTCCAGGATTACGTGGTTTCCCTGGGGACCGAGGGCTTCCTGGTCCAGTG
Seq A exon
GGAGCTCTTGGACTGAAAGGCAATGAAGGGCCCCCTGGCCCACCAGGCCCTGCG
Seq C2 exon
GGATCTCCAGGGGAGAGAGGTCCAGCTGGAGCCGCTGGGCCCATCGGAATTCCAGGGAGACCTGGGCCCCAGGGACCCCCAGGGCCGGCAGGAGAGAAAGGGGCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'92-77,'92-75,93-77=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(16.7=36.7),PF0139113=Collagen=PU(43.9=96.7)
A:
PF0139113=Collagen=FE(17.9=100),PF0139113=Collagen=PU(18.5=94.4)
C2:
PF0139113=Collagen=PD(25.8=47.2),PF0139113=Collagen=PU(45.1=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:
AGGCCTCCCTGGGAAAGATG
R:
TCTCCCTGGAATTCCGATGGG
Band lengths:
133-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains