Special

HsaEX6082533 @ hg38

Exon Skipping

Gene
ENSG00000169436 | COL22A1
Description
collagen type XXII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:22989]
Coordinates
chr8:138755785-138762466:-
Coord C1 exon
chr8:138762413-138762466
Coord A exon
chr8:138760243-138760287
Coord C2 exon
chr8:138755785-138755829
Length
45 bp
Sequences
Splice sites
3' ss Seq
CTTTTCTTTCTTTCCTCCAGGGC
3' ss Score
13.49
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GGAGAGCGAGGCCTGGATGGATTCCCTGGGAAGCCTGGGGACACAGGACAGCAG
Seq A exon
GGCAGGCCCGGCCCTTCTGGTGTGGCAGGACCCCAGGGAGAAAAG
Seq C2 exon
GGTGACGTGGGACCTGCGGGGCCACCTGGTGTACCAGGCTCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000169436-'30-38,'30-36,31-38=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=FE(24.3=100)
A:
PF0139113=Collagen=PD(8.6=40.0)
C2:
PF0139113=Collagen=FE(15.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGGCCTGGATGGATTCCCT
R:
CACTGAGCCTGGTACACCA
Band lengths:
92-137
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains