Special

HsaEX6017368 @ hg38

Exon Skipping

Gene
ENSG00000168542 | COL3A1
Description
collagen type III alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2201]
Coordinates
chr2:188996398-188997389:+
Coord C1 exon
chr2:188996398-188996496
Coord A exon
chr2:188997165-188997218
Coord C2 exon
chr2:188997336-188997389
Length
54 bp
Sequences
Splice sites
3' ss Seq
ACCGACCACTTCTTCTTTAGGGT
3' ss Score
9.26
5' ss Seq
CAGGTACGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GGAAGTCAAGGAGAAAGTGGTCGACCAGGTCCTCCTGGGCCATCTGGTCCCCGAGGTCAGCCTGGTGTCATGGGCTTCCCCGGTCCTAAAGGAAATGAT
Seq A exon
GGTGCTCCTGGTAAGAATGGAGAACGAGGTGGCCCTGGAGGACCTGGCCCTCAG
Seq C2 exon
GGTCCTCCTGGAAAGAATGGTGAAACTGGACCTCAGGGACCCCCAGGGCCTACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542-'35-34,'35-33,36-34
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(49.2=100),PF0139113=Collagen=PU(15.2=36.4)
A:
PF0139113=Collagen=PD(8.2=27.8),PF0139113=Collagen=PU(23.4=83.3)
C2:
PF0139113=Collagen=FE(26.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGGAGAAAGTGGTCGACCA
R:
TCCCTGAGGTCCAGTTTCACC
Band lengths:
132-186
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains