Special

HsaEX0016484 @ hg19

Exon Skipping

Gene
ENSG00000196739 | COL27A1
Description
collagen, type XXVII, alpha 1 [Source:HGNC Symbol;Acc:22986]
Coordinates
chr9:117047004-117051035:+
Coord C1 exon
chr9:117047004-117047057
Coord A exon
chr9:117050735-117050791
Coord C2 exon
chr9:117050982-117051035
Length
57 bp
Sequences
Splice sites
3' ss Seq
AGCTGGTTCTGTGTCCACAGGGG
3' ss Score
8.38
5' ss Seq
CGGGTAAGC
5' ss Score
9.14
Exon sequences
Seq C1 exon
GGACACAAAGGCATTGTGGGACCCCTTGGACCTCCTGGACCAAAAGGCGAAAAG
Seq A exon
GGGGAGCAGGGCGAGGACGGCAAGGCTGAGGGGCCCCCTGGGCCACCTGGAGATCGG
Seq C2 exon
GGCCCTGTGGGTGATCGAGGAGACCGCGGGGAACCGGGAGACCCTGGGTACCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-'56-57,'56-56,57-57
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:
PF0139113=Collagen=FE(27.9=100)
A:
PF0139113=Collagen=PD(14.8=47.4),PF0139113=Collagen=PU(16.1=52.6)
C2:
PF0139113=Collagen=FE(27.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGGCATTGTGGGACCCCTT
R:
CCGCGGTCTCCTCGATCA
Band lengths:
77-134
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