HsaEX6032450 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102913637-102914811:-
Coord C1 exon
chr1:102914704-102914811
Coord A exon
chr1:102914352-102914405
Coord C2 exon
chr1:102913637-102913690
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTTTCAAAACGTCATTCTAGGGT
3' ss Score
6.04
5' ss Seq
GCAGTAAGT
5' ss Score
9.07
Exon sequences
Seq C1 exon
GGTCCCAAAGGAGAAAGAGGAGAGAAAGGGGAAGCTGGTCCACCTGGAGCTGCTGGACCTCCAGGTGCCAAGGGGCCACCAGGTGATGATGGCCCTAAGGGTAACCCG
Seq A exon
GGTCCTGTTGGTTTTCCTGGAGATCCTGGTCCTCCTGGGGAACCTGGCCCTGCA
Seq C2 exon
GGTCAAGATGGTGTTGGTGGTGACAAGGGTGAAGATGGAGATCCTGGTCAACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'76-78,'76-77,77-78=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(41.7=100),PF0139113=Collagen=PU(34.5=55.6)
A:
PF0139113=Collagen=PD(4.8=22.2),PF0139113=Collagen=FE(29.3=100)
C2:
PF0139113=Collagen=FE(29.3=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:
AGGAGAGAAAGGGGAAGCTGG
R:
CGGTTGACCAGGATCTCCATC
Band lengths:
145-199
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains