HsaEX6017363 @ hg38
Exon Skipping
Gene
ENSG00000168542 | COL3A1
Description
collagen type III alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2201]
Coordinates
chr2:188998674-188999577:+
Coord C1 exon
chr2:188998674-188998718
Coord A exon
chr2:188999285-188999383
Coord C2 exon
chr2:188999470-188999577
Length
99 bp
Sequences
Splice sites
3' ss Seq
TTTACATATTTTTGTCACAGGGT
3' ss Score
8.49
5' ss Seq
AAGGTAACT
5' ss Score
9.01
Exon sequences
Seq C1 exon
GGTCCAAAGGGTGATGCCGGTGCACCTGGAGCTCCAGGAGGCAAG
Seq A exon
GGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAG
Seq C2 exon
GGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542-'40-39,'40-38,42-39
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=FE(18.2=100)
A:
PF0139113=Collagen=PD(40.3=93.9)
C2:
PF0139113=Collagen=PU(17.5=38.9)
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:
GTCCAAAGGGTGATGCCGG
R:
CTTGTCACCCTTTGGACCAGG
Band lengths:
152-251
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains