Special

HsaEX6017364 @ hg19

Exon Skipping

Gene
ENSG00000168542 | COL3A1
Description
collagen, type III, alpha 1 [Source:HGNC Symbol;Acc:2201]
Coordinates
chr2:189862992-189864109:+
Coord C1 exon
chr2:189862992-189863045
Coord A exon
chr2:189863400-189863444
Coord C2 exon
chr2:189864011-189864109
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-'31-36,'31-35,32-36=AN
Average complexity
A_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(15.3=61.1),PF0139113=Collagen=FE(26.2=100),PF0139113=Collagen=PU(25.8=94.4)
A:
PF0139113=Collagen=FE(21.5=100),PF0139113=Collagen=FE(21.2=100)
C2:
PF0139113=Collagen=PD(20.0=39.4),PF0139113=Collagen=FE(48.5=100),PF0139113=Collagen=PU(35.8=87.9)


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:
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