HsaEX6062670 @ hg38
Exon Skipping
Gene
ENSG00000196739 | COL27A1
Description
collagen type XXVII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22986]
Coordinates
chr9:114250615-114252932:+
Coord C1 exon
chr9:114250615-114250668
Coord A exon
chr9:114252593-114252646
Coord C2 exon
chr9:114252879-114252932
Length
54 bp
Sequences
Splice sites
3' ss Seq
CATTGCTGTCTCCATCACAGGGT
3' ss Score
8.5
5' ss Seq
ATGGTAAGG
5' ss Score
9.33
Exon sequences
Seq C1 exon
GGATTTATGGGATTCATTGGTCTGGTCGGGGAGCCAGGAATCGTGGGAGAAAAG
Seq A exon
GGTGATCGTGGCATGATGGGACCCCCAGGCGTGCCTGGACCCAAGGGGTCGATG
Seq C2 exon
GGTCATCCTGGAATGCCAGGTGGTATGGGGACCCCTGGAGAGCCTGGACCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-'53-56,'53-55,54-56
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=PD(15.1=72.2)
A:
PF0139113=Collagen=PD(5.4=22.2)
C2:
PF0139113=Collagen=FE(28.8=100),PF0139113=Collagen=PU(16.7=72.2)
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:
ATGGGATTCATTGGTCTGGTCG
R:
GGGGTCCAGGCTCTCCAG
Band lengths:
100-154
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains