HsaEX6032421 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103002428-103003268:-
Coord C1 exon
chr1:103003215-103003268
Coord A exon
chr1:103002747-103002791
Coord C2 exon
chr1:103002428-103002481
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATACTTTTTCTTCATTGCAGGGT
3' ss Score
9.93
5' ss Seq
ATGGTATGT
5' ss Score
8.35
Exon sequences
Seq C1 exon
GGCCCACGAGGTTTGCTGGGTCCAAGGGGAACTCCAGGAGCTCCAGGGCAGCCT
Seq A exon
GGTATGGCAGGTGTAGATGGCCCCCCAGGACCAAAAGGGAACATG
Seq C2 exon
GGTCCCCAAGGGGAGCCTGGGCCTCCAGGTCAACAAGGGAATCCAGGACCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'33-36,'33-35,34-36=AN
Average complexity
A_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(23.6=100),PF0139113=Collagen=FE(26.6=100)
A:
PF0139113=Collagen=FE(18.9=100),PF0139113=Collagen=FE(21.9=100),PF0139113=Collagen=PU(16.1=93.3)
C2:
PF0139113=Collagen=PD(0.1=0.0),PF0139113=Collagen=FE(26.6=100),PF0139113=Collagen=FE(19.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCCCACGAGGTTTGCTG
R:
CTGAGGTCCTGGATTCCCTTG
Band lengths:
108-153
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains