HsaEX1009401 @ hg38
Exon Skipping
Gene
ENSG00000168542 | COL3A1
Description
collagen type III alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2201]
Coordinates
chr2:189001397-189002351:+
Coord C1 exon
chr2:189001397-189001450
Coord A exon
chr2:189001536-189001589
Coord C2 exon
chr2:189002298-189002351
Length
54 bp
Sequences
Splice sites
3' ss Seq
CATGGCTTCTCTTTTTCCAGGGT
3' ss Score
10.26
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GGTCCTACTGGTCCTATTGGTCCTCCTGGCCCAGCTGGCCAGCCTGGAGATAAG
Seq A exon
GGTGAAGGTGGTGCCCCCGGACTTCCAGGTATAGCTGGACCTCGTGGTAGCCCT
Seq C2 exon
GGTGAGAGAGGTGAAACTGGCCCTCCAGGACCTGCTGGTTTCCCTGGTGCTCCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542-'46-46,'46-43,48-46
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=PU(3.1=11.1)
A:
PF0139113=Collagen=FE(21.2=100),PF0139113=Collagen=PU(23.0=77.8)
C2:
PF0139113=Collagen=PD(12.5=55.6),PF0139113=Collagen=FE(27.9=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGGTCCTATTGGTCCTCCTG
R:
CAGCAGGTCCTGGAGGGC
Band lengths:
85-139
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains