Special

HsaEX0016609 @ hg19

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137704451-137706750:+
Coord C1 exon
chr9:137704451-137704558
Coord A exon
chr9:137705829-137705882
Coord C2 exon
chr9:137706643-137706750
Length
54 bp
Sequences
Splice sites
3' ss Seq
CACATGCACTGTCTCCCTAGGGC
3' ss Score
9.88
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
GGCCCCCCGGGTCCCCCTGGCCCCCGAGGACCCTCCGGAGCTCCAGGTGCTGATGGCCCACAAGGTCCCCCAGGTGGAATAGGAAACCCTGGTGCAGTGGGAGAGAAG
Seq A exon
GGCGAGCCTGGCGAAGCAGGTGAGCCTGGCCTTCCGGGAGAAGGCGGCCCCCCG
Seq C2 exon
GGACCCAAAGGAGAAAGGGGAGAGAAGGGCGAGTCAGGCCCTTCAGGTGCTGCCGGACCCCCTGGACCCAAAGGCCCTCCCGGAGATGATGGTCCCAAAGGCAGCCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'64-64,'64-63,65-64
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:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCCCCCAGGTGGAATAGGAA
R:
GCCTTTGGGACCATCATCTCC
Band lengths:
146-200
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