HsaEX6063864 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134801954-134805064:+
Coord C1 exon
chr9:134801954-134802007
Coord A exon
chr9:134802888-134802995
Coord C2 exon
chr9:134804975-134805064
Length
108 bp
Sequences
Splice sites
3' ss Seq
GACACTGATTTTCCCCACAGGGT
3' ss Score
10.45
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GGTTTCCAAGGCAAGACCGGCCCTCCAGGCCCCCCCGGCGTGGTCGGCCCTCAG
Seq A exon
GGTCCCACGGGAGAAACGGGCCCAATGGGTGAGCGTGGCCACCCTGGGCCCCCTGGACCCCCCGGTGAACAGGGGCTTCCGGGCCTTGCTGGAAAAGAAGGGACGAAG
Seq C2 exon
GGTGACCCAGGCCCTGCAGGCCTCCCTGGGAAAGATGGCCCTCCAGGATTACGTGGTTTCCCTGGGGACCGAGGGCTTCCTGGTCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'89-74,'89-72,90-74=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=FE(21.5=100),PF0139113=Collagen=PU(25.8=94.4)
A:
PF0139113=Collagen=PD(13.6=30.6),PF0139113=Collagen=FE(50.7=100),PF0139113=Collagen=PU(30.5=80.6)
C2:
PF0139113=Collagen=PD(16.7=36.7),PF0139113=Collagen=PU(43.9=96.7)
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:
GGTTTCCAAGGCAAGACCGG
R:
ACTGGACCAGGAAGCCCTC
Band lengths:
143-251
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains