HsaEX6063843 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134824600-134830176:+
Coord C1 exon
chr9:134824600-134824855
Coord A exon
chr9:134825792-134825904
Coord C2 exon
chr9:134830108-134830176
Length
113 bp
Sequences
Splice sites
3' ss Seq
TCCCCGTCTCTGAAATCCAGGTG
3' ss Score
7.68
5' ss Seq
GGGGTGAGT
5' ss Score
7.93
Exon sequences
Seq C1 exon
GGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATG
Seq A exon
GTGAATACTGGGTCGATCCTAACCAAGGATGCTCCAGGGATTCCTTCAAGGTTTACTGCAACTTCACAGCCGGGGGGTCGACATGCGTCTTCCCTGACAAGAAGTCCGAAGGG
Seq C2 exon
AGTAAAATGGCCCGCTGGCCCAAAGAGCAGCCTTCCACCTGGTATAGTCAGTACAAGCGGGGGTCCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'122-111,'122-109,123-111=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.747 A=0.021 C2=0.157
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(12.7=9.3),PF0141013=COLFI=PU(12.7=31.4)
A:
PF0141013=COLFI=FE(17.5=100)
C2:
PF0141013=COLFI=FE(13.9=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:
CTGCTGGACGACGGGAATG
R:
GACCCCCGCTTGTACTGACTA
Band lengths:
246-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains