HsaEX6032428 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102987633-102995908:-
Coord C1 exon
chr1:102995864-102995908
Coord A exon
chr1:102989518-102989571
Coord C2 exon
chr1:102987633-102987740
Length
54 bp
Sequences
Splice sites
3' ss Seq
TTCCTTTTATAATGTTTTAGGGT
3' ss Score
10.54
5' ss Seq
AGAGTAAGT
5' ss Score
9.35
Exon sequences
Seq C1 exon
GGAGCAGATGGTGTCAGAGGTCTCAAGGGATCTAAAGGTGAAAAG
Seq A exon
GGTGAAGATGGTTTTCCAGGATTCAAAGGTGACATGGGTCTAAAAGGTGACAGA
Seq C2 exon
GGAGAAGTTGGTCAAATTGGCCCAAGAGGGGAAGATGGCCCTGAAGGACCCAAAGGTCGAGCAGGCCCAACTGGAGACCCAGGTCCTTCAGGTCAAGCAGGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'42-45,'42-44,43-45
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(20.9=100),PF0139113=Collagen=FE(19.7=100)
A:
PF0139113=Collagen=FE(21.8=100),PF0139113=Collagen=PU(22.4=94.4)
C2:
PF0139113=Collagen=PD(5.1=11.1),PF0139113=Collagen=FE(46.1=100),PF0139113=Collagen=PU(13.5=27.8)
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:
TGGTGTCAGAGGTCTCAAGGG
R:
TTGACCTGAAGGACCTGGGTC
Band lengths:
133-187
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains