HsaEX0016245 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102965487-102974883:-
Coord C1 exon
chr1:102974830-102974883
Coord A exon
chr1:102970219-102970272
Coord C2 exon
chr1:102965487-102965540
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTTAATATTTGTAATTTCAGGGA
3' ss Score
6.81
5' ss Seq
ACTGTAAGT
5' ss Score
8.59
Exon sequences
Seq C1 exon
GGTCCTCAAGGACCTCAGGGTCCAGTTGGATTCCCTGGACCAAAAGGCCCTCCT
Seq A exon
GGACCACCTGGGAAGGATGGGCTGCCAGGACACCCTGGGCAACGTGGGGAGACT
Seq C2 exon
GGATTTCAAGGCAAGACCGGCCCTCCTGGGCCAGGGGGAGTGGTTGGACCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'53-58,'53-57,55-58
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(25.4=100)
A:
PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=PU(13.9=61.1)
C2:
PF0139113=Collagen=FE(22.1=100),PF0139113=Collagen=FE(21.5=100)
Main Skipping Isoform:
ENST00000358392fB12703
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCCTCAAGGACCTCAGGG
R:
GTCCAACCACTCCCCCTGG
Band lengths:
101-155
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