Special

HsaEX6017362 @ hg19

Exon Skipping

Gene
ENSG00000168542 | COL3A1
Description
collagen, type III, alpha 1 [Source:HGNC Symbol;Acc:2201]
Coordinates
chr2:189864011-189864621:+
Coord C1 exon
chr2:189864011-189864109
Coord A exon
chr2:189864196-189864303
Coord C2 exon
chr2:189864568-189864621
Length
108 bp
Sequences
Splice sites
3' ss Seq
TATTTCTCACTTATTTTCAGGGT
3' ss Score
8.9
5' ss Seq
AAGGTGTTG
5' ss Score
1.36
Exon sequences
Seq C1 exon
GGTGATGCTGGTGCCCCTGGTGAACGTGGACCTCCTGGATTGGCAGGGGCCCCAGGACTTAGAGGTGGAGCTGGTCCCCCTGGTCCCGAAGGAGGAAAG
Seq A exon
GGTGCTGCTGGTCCTCCTGGGCCACCTGGTGCTGCTGGTACTCCTGGTCTGCAAGGAATGCCTGGAGAAAGAGGAGGTCTTGGAAGTCCTGGTCCAAAGGGTGACAAG
Seq C2 exon
GGTGAACCAGGCGGTCCAGGTGCTGATGGTGTCCCAGGGAAAGATGGCCCAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000168542-'33-38,'33-37,34-38=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(20.0=39.4),PF0139113=Collagen=FE(48.5=100),PF0139113=Collagen=PU(35.8=87.9)
A:
PF0139113=Collagen=FE(43.2=100),PF0139113=Collagen=PU(26.9=50.0)
C2:
PF0139113=Collagen=PD(17.3=77.8),PF0139113=Collagen=FE(25.4=100),PF0139113=Collagen=PU(17.2=61.1)


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:
GTGATGCTGGTGCCCCTG
R:
CTTGGGCCATCTTTCCCTGG
Band lengths:
151-259
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains