Special

HsaEX6082554 @ hg38

Exon Skipping

Gene
ENSG00000169436 | COL22A1
Description
collagen type XXII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22989]
Coordinates
chr8:138660436-138694879:-
Coord C1 exon
chr8:138694843-138694879
Coord A exon
chr8:138662030-138662083
Coord C2 exon
chr8:138660436-138660480
Length
54 bp
Sequences
Splice sites
3' ss Seq
CTTCTTTTCTTTTTCTTCAGGGA
3' ss Score
11.71
5' ss Seq
GACGTAAGT
5' ss Score
10.93
Exon sequences
Seq C1 exon
GGAGAACAAGGGCCCAAAGGAGAGAAGGGCGATCCAG
Seq A exon
GGATCACGAGGCTTACCTGGATTCCCTGGCCCCCAGGGCCCAGCCGGCCGGGAC
Seq C2 exon
GGTGCACCAGGAAATCCAGGAGAAAGAGGGCCTCCTGGCAAGCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169436_MULTIEX1-10/32=C1-11
Average complexity
C2
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(25.8=100)
A:
PF0139113=Collagen=FE(29.3=100)
C2:
PF0139113=Collagen=FE(24.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAACAAGGGCCCAAAGGAGAG
R:
GAGGCCCTCTTTCTCCTGGAT
Band lengths:
68-122
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains