HsaEX0016611 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134820116-134824855:+
Coord C1 exon
chr9:134820116-134820161
Coord A exon
chr9:134823416-134823469
Coord C2 exon
chr9:134824600-134824855
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATTCTTTTCTTTCTCCCCAGGGT
3' ss Score
11.84
5' ss Seq
CCGGTAAGT
5' ss Score
10.91
Exon sequences
Seq C1 exon
GGTCATCCAGGCCTGATCGGGCTCATCGGTCCTCCGGGTGAACAGG
Seq A exon
GGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCG
Seq C2 exon
GGCCCCCCGGGAGAGGTCATCCAGCCCCTGCCAATCCAGGCATCCAGGACGCGGCGGAACATCGACGCCAGCCAGCTGCTGGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACGGCATGGAAGAGATCTTCGGCTCTCTCAACTCTCTGAAGCTGGAGATTGAGCAGATGAAACGGCCCCTGGGCACGCAGCAGAACCCCGCCCGCACCTGCAAGGACCTGCAGCTCTGCCACCCCGACTTCCCAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635_MULTIEX2-3/3=C1-C2
Average complexity
C2
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=0.747
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(9.0=16.7),PF0139113=Collagen=FE(38.9=100),PF0139113=Collagen=PU(3.3=5.6)
A:
PF0139113=Collagen=FE(27.0=100)
C2:
PF0139113=Collagen=PD(12.7=9.3),PF0141013=COLFI=PU(12.7=31.4)
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:
GATCGGGCTCATCGGTCCTC
R:
CACGTAGTTCTCGCCATTCCC
Band lengths:
140-194
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development