Special

HsaEX1009358 @ hg38

Exon Skipping

Gene
ENSG00000124749 | COL21A1
Description
collagen type XXI alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:17025]
Coordinates
chr6:56077529-56101525:-
Coord C1 exon
chr6:56101472-56101525
Coord A exon
chr6:56091497-56091583
Coord C2 exon
chr6:56077529-56077573
Length
87 bp
Sequences
Splice sites
3' ss Seq
CTCACAGTGAAAATTTGTAGGCA
3' ss Score
1.19
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
GGAGAAGCAGGATCCCCTGGTGCTCCGGGGCAGGATGGAACACGGGGAGAGCCT
Seq A exon
GCAGGGACTGGGTTCTACTGTGAGCTGAGATCCCTGGAGCTCCATGAAAAGGAGAAAAAGAATGCCGTGTTTCCTGGATCTATGGAG
Seq C2 exon
GGAATCCCAGGATTTCCTGGAAACCGAGGATTAATGGGCCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124749_MULTIEX3-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.966 C2=1.000
Domain overlap (PFAM):

C1:
PF0139113=Collagen=PD(11.6=44.4),PF0139113=Collagen=FE(20.2=100)
A:
PF0139113=Collagen=PD(6.2=13.8),PF0139113=Collagen=PU(6.5=13.8)
C2:
PF0139113=Collagen=FE(16.7=100),PF0139113=Collagen=PU(2.5=13.3)


Main Inclusion Isoform:
ENST00000244728fB12743


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
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:
GGAGAAGCAGGATCCCCT
R:
TGGCCCATTAATCCTCGGTTT
Band lengths:
95-182
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains