HsaEX6032453 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102898666-102912212:-
Coord C1 exon
chr1:102912159-102912212
Coord A exon
chr1:102898941-102898994
Coord C2 exon
chr1:102898666-102898773
Length
54 bp
Sequences
Splice sites
3' ss Seq
AATAAATCTTATGTCTATAGGGT
3' ss Score
6.74
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
GGTCCTCCTGGCCCATCTGGTGAGGCTGGCCCACCAGGTCCTCCTGGAAAACGA
Seq A exon
GGTCCTCCTGGAGCTGCAGGTGCAGAGGGAAGACAAGGTGAAAAAGGTGCTAAG
Seq C2 exon
GGGGAAGCAGGTGCAGAAGGTCCTCCTGGAAAAACCGGCCCAGTCGGTCCTCAGGGACCTGCAGGAAAGCCTGGTCCAGAAGGTCTTCGGGGCATCCCTGGTCCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'80-83,'80-82,81-83=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)
A:
PF0139113=Collagen=FE(23.0=100),PF0139113=Collagen=PU(8.2=27.8)
C2:
PF0139113=Collagen=PD(13.5=27.8),PF0139113=Collagen=FE(57.4=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:
CTCCTGGCCCATCTGGTGAG
R:
AGACCTTCTGGACCAGGCTTT
Band lengths:
136-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains