HsaEX6032454 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102898125-102898994:-
Coord C1 exon
chr1:102898941-102898994
Coord A exon
chr1:102898666-102898773
Coord C2 exon
chr1:102898125-102898178
Length
108 bp
Sequences
Splice sites
3' ss Seq
CATATTTTACTTTCTAACAGGGG
3' ss Score
9.05
5' ss Seq
GTGGTGAGC
5' ss Score
6.64
Exon sequences
Seq C1 exon
GGTCCTCCTGGAGCTGCAGGTGCAGAGGGAAGACAAGGTGAAAAAGGTGCTAAG
Seq A exon
GGGGAAGCAGGTGCAGAAGGTCCTCCTGGAAAAACCGGCCCAGTCGGTCCTCAGGGACCTGCAGGAAAGCCTGGTCCAGAAGGTCTTCGGGGCATCCCTGGTCCTGTG
Seq C2 exon
GGAGAACAAGGTCTCCCTGGAGCTGCAGGCCAAGATGGACCACCTGGTCCTATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'81-84,'81-83,82-84=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(23.0=100),PF0139113=Collagen=PU(8.2=27.8)
A:
PF0139113=Collagen=PD(13.5=27.8),PF0139113=Collagen=FE(57.4=100)
C2:
PF0139113=Collagen=FE(24.6=100),PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=PU(6.3=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:
GTCCTCCTGGAGCTGCAGG
R:
AGGTGGTCCATCTTGGCCTG
Band lengths:
98-206
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains