HsaEX0016484 @ hg38
Exon Skipping
Gene
ENSG00000196739 | COL27A1
Description
collagen type XXVII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22986]
Coordinates
chr9:114284724-114288755:+
Coord C1 exon
chr9:114284724-114284777
Coord A exon
chr9:114288455-114288511
Coord C2 exon
chr9:114288702-114288755
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-'81-86,'81-85,82-86
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 Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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