Special

HsaEX6101492 @ hg19

Exon Skipping

Gene
ENSG00000050767 | COL23A1
Description
collagen, type XXIII, alpha 1 [Source:HGNC Symbol;Acc:22990]
Coordinates
chr5:177689218-177694334:-
Coord C1 exon
chr5:177694308-177694334
Coord A exon
chr5:177690209-177690325
Coord C2 exon
chr5:177689218-177689253
Length
117 bp
Sequences
Splice sites
3' ss Seq
CCAAGCCCCATCTCTTTCAGGGA
3' ss Score
7.55
5' ss Seq
GCGGTAAGA
5' ss Score
9.63
Exon sequences
Seq C1 exon
GGTGCACCAGGAGACTTTGGCCCCCGG
Seq A exon
GGAGACCAAGGACAAGATGGAGCTGCTGGGCCTCCGGGGCCCCCTGGACCTCCTGGGGCCCGGGGCCCTCCTGGCGACACTGGGAAAGATGGCCCCAGGGGAGCACAAGGCCCAGCG
Seq C2 exon
GGCCCCAAAGGAGAGCCCGGACAAGACGGCGAGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000050767-'11-12,'11-11,12-12=AN
Average complexity
A_C1
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(12.3=77.8),PF0139113=Collagen=FE(10.5=100)
A:
PF0139113=Collagen=FE(45.8=100),PF0139113=Collagen=PU(27.4=43.6)
C2:
PF0139113=Collagen=PD(12.0=83.3),PF0139113=Collagen=FE(17.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains