HsaEX6032407 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103026216-103074780:-
Coord C1 exon
chr1:103074618-103074780
Coord A exon
chr1:103031116-103031244
Coord C2 exon
chr1:103026216-103026332
Length
129 bp
Sequences
Splice sites
3' ss Seq
TGTTTTTTTTTTTTTCCCAGGGG
3' ss Score
10.58
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
GTGGCATCGGGTAGCAATCAGCGTGGAGAAGAAAACTGTGACAATGATTGTTGATTGTAAGAAGAAAACCACGAAACCACTTGATAGAAGTGAGAGAGCAATTGTTGATACCAATGGAATCACGGTTTTTGGAACAAGGATTTTGGATGAAGAAGTTTTTGAG
Seq A exon
GGGGACATTCAGCAGTTTTTGATCACAGGTGATCCCAAGGCAGCATATGACTACTGTGAGCATTATAGTCCAGACTGTGACTCTTCAGCACCCAAGGCTGCTCAAGCTCAGGAACCTCAGATAGATGAG
Seq C2 exon
TATGCACCAGAGGATATAATCGAATATGACTATGAGTATGGGGAAGCAGAGTATAAAGAGGCTGAAAGTGTAACAGAGGGACCCACTGTAACTGAGGAGACAATAGCACAGACGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'4-12,'4-10,6-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.064 A=0.377 C2=0.924
Domain overlap (PFAM):
C1:
PF0221019=Laminin_G_2=FE(42.2=100)
A:
PF0221019=Laminin_G_2=PD(7.8=23.3)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGCATCGGGTAGCAATCAG
R:
AGTGGGTCCCTCTGTTACACT
Band lengths:
250-379
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains