HsaEX6032430 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102979382-102987740:-
Coord C1 exon
chr1:102987633-102987740
Coord A exon
chr1:102984138-102984191
Coord C2 exon
chr1:102979382-102979435
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATTATATATTTTAACTGTAGGGA
3' ss Score
7.03
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GGAGAAGTTGGTCAAATTGGCCCAAGAGGGGAAGATGGCCCTGAAGGACCCAAAGGTCGAGCAGGCCCAACTGGAGACCCAGGTCCTTCAGGTCAAGCAGGAGAAAAG
Seq A exon
GGAAAACTTGGAGTTCCAGGATTACCAGGATATCCAGGAAGACAAGGTCCAAAG
Seq C2 exon
GGTTCCACTGGATTCCCTGGGTTTCCAGGTGCCAATGGAGAGAAAGGTGCACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'45-49,'45-47,46-49
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=0.983 C2=0.900
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(5.1=11.1),PF0139113=Collagen=FE(46.1=100),PF0139113=Collagen=PU(13.5=27.8)
A:
PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=FE(23.0=100)
C2:
PF0139113=Collagen=PD(3.9=16.7),PF0139113=Collagen=FE(23.0=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:
TGGTCAAATTGGCCCAAGAGG
R:
TCTCTCCATTGGCACCTGGAA
Band lengths:
143-197
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains