Special

HsaEX6058448 @ hg19

Exon Skipping

Gene
ENSG00000172752 | COL29A1
Description
collagen, type VI, alpha 5 [Source:HGNC Symbol;Acc:26674]
Coordinates
chr3:130134489-130137775:+
Coord C1 exon
chr3:130134489-130134551
Coord A exon
chr3:130135601-130135663
Coord C2 exon
chr3:130137713-130137775
Length
63 bp
Sequences
Splice sites
3' ss Seq
GTCTCTAATTTTTTTTTCAGGGT
3' ss Score
10.43
5' ss Seq
AAAGTAGAT
5' ss Score
0.25
Exon sequences
Seq C1 exon
GGGTCACAGGGAAATCCTGGCAGAAAAGGAGAAAAAGGAAGCCAGGGGCAGAAAGGACCTCAG
Seq A exon
GGTTCTCCTGGGCTAATGGGAGCTAAAGGGAGCACTGGAAGACCTGGACTTTTGGGGAAAAAA
Seq C2 exon
GGAGAGCCTGGACTTCCTGGAGATCTAGGGCCAGTGGGGCAAACTGGGCAGCGAGGAAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'22-23,'22-22,23-23=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

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

C1:
PF0139113=Collagen=FE(27.4=100)
A:
PF0139113=Collagen=FE(26.7=100),PF0139113=Collagen=PU(16.3=66.7)
C2:
PF0139113=Collagen=PD(10.7=38.1),PF0139113=Collagen=FE(23.3=100)


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)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGGAAATCCTGGCAGAAAAGG
R:
TCTTCCTCGCTGCCCAGTTT
Band lengths:
116-179
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains