HsaEX6017364 @ hg38
Exon Skipping
Gene
ENSG00000168542 | COL3A1
Description
collagen type III alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2201]
Coordinates
chr2:188998266-188999383:+
Coord C1 exon
chr2:188998266-188998319
Coord A exon
chr2:188998674-188998718
Coord C2 exon
chr2:188999285-188999383
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATATAATGCCAATCTCCCAGGGT
3' ss Score
3.9
5' ss Seq
AAGGTAGTA
5' ss Score
5.69
Exon sequences
Seq C1 exon
GGCTTGCCTGGTACAGGTGGTCCTCCAGGAGAAAATGGAAAACCTGGGGAACCA
Seq A exon
GGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAG
Seq C2 exon
GGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542-'39-38,'39-37,40-38
Average complexity
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=PD(13.9=61.1),PF0139113=Collagen=FE(22.1=100)
A:
PF0139113=Collagen=FE(18.2=100)
C2:
PF0139113=Collagen=PD(40.3=93.9)
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:
CAGGTGGTCCTCCAGGAGAAA
R:
CTTTCCTCCTTCGGGACCAGG
Band lengths:
140-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains