HsaEX6032462 @ hg38
Exon Skipping
Gene
ENSG00000060718 | COL11A1
Description
collagen type XI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2186]
Coordinates
chr1:102881697-102887056:-
Coord C1 exon
chr1:102886807-102887056
Coord A exon
chr1:102883199-102883311
Coord C2 exon
chr1:102881697-102881765
Length
113 bp
Sequences
Splice sites
3' ss Seq
TATTTTTTGCTACCTTCTAGGTG
3' ss Score
10.18
5' ss Seq
GGAGTAAGT
5' ss Score
8.57
Exon sequences
Seq C1 exon
GGTCCACCTGGTGAAGTCATTCAGCCTTTACCAATCTTGTCCTCCAAAAAAACGAGAAGACATACTGAAGGCATGCAAGCAGATGCAGATGATAATATTCTTGATTACTCGGATGGAATGGAAGAAATATTTGGTTCCCTCAATTCCCTGAAACAAGACATTGAGCATATGAAATTTCCAATGGGTACTCAGACCAATCCAGCCCGAACTTGTAAAGACCTGCAACTCAGCCATCCTGACTTCCCAGATG
Seq A exon
GTGAATATTGGATTGATCCTAACCAAGGTTGCTCAGGAGATTCCTTCAAAGTTTACTGTAATTTCACATCTGGTGGTGAGACTTGCATTTATCCAGACAAAAAATCTGAGGGA
Seq C2 exon
GTAAGAATTTCATCATGGCCAAAGGAGAAACCAGGAAGTTGGTTTAGTGAATTTAAGAGGGGAAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000060718-'92-95,'92-94,94-95
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.833 A=0.053 C2=0.087
Domain overlap (PFAM):
C1:
PF0139113=Collagen=PD(12.7=9.5),PF0141013=COLFI=PU(12.7=32.1)
A:
PF0141013=COLFI=FE(17.5=100)
C2:
PF0141013=COLFI=FE(10.4=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:
GCCTTTACCAATCTTGTCCTCCA
R:
GTTTCTCCTTTGGCCATGATGA
Band lengths:
258-371
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains