HsaEX6063872 @ hg38
Exon Skipping
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134782667-134786048:+
Coord C1 exon
chr9:134782667-134782720
Coord A exon
chr9:134784989-134785096
Coord C2 exon
chr9:134785995-134786048
Length
108 bp
Sequences
Splice sites
3' ss Seq
TCCTCTTTTCTGGCTTGCAGGGG
3' ss Score
10.27
5' ss Seq
AAGGTTTGT
5' ss Score
7.81
Exon sequences
Seq C1 exon
GGTGAAGACGGCTTTCCTGGGTTTAAAGGAGACATGGGCATCAAGGGTGATCGG
Seq A exon
GGGGAGATCGGCCCACCCGGTCCCAGGGGAGAAGATGGCCCTGAAGGCCCAAAGGGTCGCGGAGGTCCCAATGGTGACCCCGGTCCTCTGGGACCCCCTGGGGAGAAG
Seq C2 exon
GGAAAACTCGGAGTCCCAGGGTTACCAGGGTATCCAGGAAGACAAGGACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'73-58,'73-57,76-58
Average complexity
C1
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(22.1=100),PF0139113=Collagen=PU(7.9=27.8)
A:
PF0139113=Collagen=PD(9.1=19.4),PF0139113=Collagen=FE(55.6=100)
C2:
PF0139113=Collagen=PU(12.6=61.1)
Main Skipping Isoform:
ENST00000371817fB1758
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAAGACGGCTTTCCTGGGTT
R:
CTTTGGTCCTTGTCTTCCTGGA
Band lengths:
106-214
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains