Special

HsaEX6063853 @ hg38

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134814797-134815988:+
Coord C1 exon
chr9:134814797-134814904
Coord A exon
chr9:134815576-134815629
Coord C2 exon
chr9:134815935-134815988
Length
54 bp
Sequences
Splice sites
3' ss Seq
TCCTTCTTTCTTCCTTTCAGGGC
3' ss Score
13.38
5' ss Seq
GCGGTAGGT
5' ss Score
9
Exon sequences
Seq C1 exon
GGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCT
Seq A exon
GGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCG
Seq C2 exon
GGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'105-90,'105-89,106-90
Average complexity
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:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGACCCAAAGGAGAAAGGGGA
R:
ATCTCCTTTGTCACCAGGGGG
Band lengths:
141-195
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains