HsaEX0016249 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:103025521-103026332:-
Coord C1 exon
chr1:103026216-103026332
Coord A exon
chr1:103025800-103025952
Coord C2 exon
chr1:103025521-103025613
Length
153 bp
Sequences
Splice sites
3' ss Seq
TCTTTCACCACATTTTACAGAAA
3' ss Score
6.91
5' ss Seq
AAGGTAGCG
5' ss Score
6.91
Exon sequences
Seq C1 exon
TATGCACCAGAGGATATAATCGAATATGACTATGAGTATGGGGAAGCAGAGTATAAAGAGGCTGAAAGTGTAACAGAGGGACCCACTGTAACTGAGGAGACAATAGCACAGACGGAG
Seq A exon
AAAAAGAAATCCAATTTCAAAAAGAAGATGAGGACAGTGGCTACTAAATCAAAGGAAAAATCCAAAAAGTTTACACCCCCCAAATCTGAAAAATTTTCATCCAAGAAGAAGAAAAGTTATCAAGCATCAGCAAAAGCCAAACTAGGGGTAAAG
Seq C2 exon
GCAAACATCGTTGATGATTTTCAAGAATACAACTATGGAACAATGGAAAGTTACCAGACAGAAGCTCCTAGGCATGTTTCTGGGACAAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718_MULTIEX1-2/4=1-3
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.924 A=0.569 C2=0.763
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TATGCACCAGAGGATATAATCGAA
R:
CTCATTTGTCCCAGAAACATGCC
Band lengths:
210-363
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development