Special

HsaEX6101500 @ hg19

Exon Skipping

Gene
ENSG00000050767 | COL23A1
Description
collagen, type XXIII, alpha 1 [Source:HGNC Symbol;Acc:22990]
Coordinates
chr5:177669043-177672969:-
Coord C1 exon
chr5:177672943-177672969
Coord A exon
chr5:177669342-177669395
Coord C2 exon
chr5:177669043-177669129
Length
54 bp
Sequences
Splice sites
3' ss Seq
GCATCTAATCCTTTTGTCAGGGT
3' ss Score
5.08
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
GGCAGACCCGGGGAGCCAGGACTAGAT
Seq A exon
GGTTTCCCTGGACCCCGAGGAGAGAAAGGTGATCGGAGCGAGCGTGGAGAGAAG
Seq C2 exon
GGAGAACGAGGGGTCCCCGGCCGGAAAGGAGTGAAGGGCCAGAAGGGCGAGCCGGGACCACCAGGCCTGGACCAGCCGTGTCCCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'30-30,'30-29,31-30=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=FE(11.4=100)
A:
PF0139113=Collagen=FE(24.3=100)
C2:
PF0139113=Collagen=PD(41.3=89.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGGGGAGCCAGGACTAGAT
R:
GGACACGGCTGGTCCAGG
Band lengths:
103-157
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains