HsaEX6032409 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103021707-103026332:-
Coord C1 exon
chr1:103026216-103026332
Coord A exon
chr1:103025521-103025613
Coord C2 exon
chr1:103021707-103021769
Length
93 bp
Sequences
Splice sites
3' ss Seq
TCTTCTGAATTTACCATTAGGCA
3' ss Score
6.09
5' ss Seq
GAGGTAATA
5' ss Score
7.96
Exon sequences
Seq C1 exon
TATGCACCAGAGGATATAATCGAATATGACTATGAGTATGGGGAAGCAGAGTATAAAGAGGCTGAAAGTGTAACAGAGGGACCCACTGTAACTGAGGAGACAATAGCACAGACGGAG
Seq A exon
GCAAACATCGTTGATGATTTTCAAGAATACAACTATGGAACAATGGAAAGTTACCAGACAGAAGCTCCTAGGCATGTTTCTGGGACAAATGAG
Seq C2 exon
ATAAATGGCCATGGTGCATATGGAGAGAAAGGACAGAAAGGAGAACCAGCAGTGGTTGAGCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718_MULTIEX1-3/4=1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.924 A=0.763 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0139113=Collagen=PU(1.7=4.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGCACCAGAGGATATAATCGAA
R:
TGCTGGTTCTCCTTTCTGTCC
Band lengths:
167-260
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains