Special

HsaEX6063845 @ hg19

Exon Skipping

Gene
ENSG00000130635 | COL5A1
Description
collagen, type V, alpha 1 [Source:HGNC Symbol;Acc:2209]
Coordinates
chr9:137713943-137715315:+
Coord C1 exon
chr9:137713943-137713996
Coord A exon
chr9:137714844-137714879
Coord C2 exon
chr9:137715262-137715315
Length
36 bp
Sequences
Splice sites
3' ss Seq
CTGCCCTCCTCTCTCTGCAGGGT
3' ss Score
13.23
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
Exon sequences
Seq C1 exon
GGTATCACTGGTCCTTCTGGCCCGATTGGGCCTCCTGGGCCCCCTGGCCTGCCG
Seq A exon
GGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCG
Seq C2 exon
GGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635-'76-77,'76-76,77-77=AN
Average complexity
A_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:
PF0139113=Collagen=PD(17.9=66.7),PF0139113=Collagen=FE(27.0=100)
A:
PF0139113=Collagen=FE(17.5=100)
C2:
PF0139113=Collagen=FE(27.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


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:
TATCACTGGTCCTTCTGGCCC
R:
CTGGGTGGCCTGCCTCAC
Band lengths:
89-125
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains