HsaEX6032431 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102979060-102984191:-
Coord C1 exon
chr1:102984138-102984191
Coord A exon
chr1:102979382-102979435
Coord C2 exon
chr1:102979060-102979104
Length
54 bp
Sequences
Splice sites
3' ss Seq
ATTTACTTTTATTATTGTAGGGT
3' ss Score
8.34
5' ss Seq
CGGGTATGA
5' ss Score
7.63
Exon sequences
Seq C1 exon
GGAAAACTTGGAGTTCCAGGATTACCAGGATATCCAGGAAGACAAGGTCCAAAG
Seq A exon
GGTTCCACTGGATTCCCTGGGTTTCCAGGTGCCAATGGAGAGAAAGGTGCACGG
Seq C2 exon
GGAGTAGCTGGCAAACCAGGCCCTCGGGGTCAGCGTGGTCCAACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'46-50,'46-49,49-50=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.983 A=0.900 C2=0.987
Domain overlap (PFAM):
C1:
PF0139113=Collagen=FE(22.4=100),PF0139113=Collagen=FE(23.0=100)
A:
PF0139113=Collagen=PD(3.9=16.7),PF0139113=Collagen=FE(23.0=100)
C2:
PF0139113=Collagen=FE(18.9=100),PF0139113=Collagen=PU(8.5=33.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAGTTCCAGGATTACCAGG
R:
CGTTGGACCACGCTGACC
Band lengths:
91-145
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains