HsaEX0016505 @ hg38
Exon Skipping
Gene
ENSG00000196739 | COL27A1
Description
collagen type XXVII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22986]
Coordinates
chr9:114302082-114306688:+
Coord C1 exon
chr9:114302082-114302108
Coord A exon
chr9:114304608-114304673
Coord C2 exon
chr9:114306520-114306688
Length
66 bp
Sequences
Splice sites
3' ss Seq
CCTGTCTTTTCCTTGCCCAGCAA
3' ss Score
7.57
5' ss Seq
GAGGTATCT
5' ss Score
7.27
Exon sequences
Seq C1 exon
GGTCCTCCAGGGGGTCCTATCCAATTG
Seq A exon
CAACAAGATGATCTTGGGGCAGCTTTCCAGACGTGGATGGACACCAGTGGAGCACTCAGGCCAGAG
Seq C2 exon
AGTTACAGCTATCCAGACCGGCTGGTGCTGGACCAGGGAGGAGAGATCTTTAAAACCTTACACTACCTCAGCAACCTCATCCAGAGCATTAAGACGCCCCTGGGCACCAAAGAGAACCCCGCCCGGGTCTGCAGGGACCTCATGGACTGTGAGCAGAAGATGGTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196739-'100-108,'100-104,101-108
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=0.782 C2=0.225
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(11.3=77.8)
A:
NO
C2:
PF0141013=COLFI=PU(39.1=47.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCAGGGGGTCCTATCCAAT
R:
CTCACAGTCCATGAGGTCCCT
Band lengths:
176-242
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