Special

HsaEX6058437 @ hg19

Exon Skipping

Gene
ENSG00000172752 | COL29A1
Description
collagen, type VI, alpha 5 [Source:HGNC Symbol;Acc:26674]
Coordinates
chr3:130162320-130188325:+
Coord C1 exon
chr3:130162320-130162410
Coord A exon
chr3:130174299-130174510
Coord C2 exon
chr3:130187639-130188325
Length
212 bp
Sequences
Splice sites
3' ss Seq
AAAGTTTTTTTTTCTTCTAGATT
3' ss Score
8.68
5' ss Seq
CTGGTAAGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
GGGGATTCAATCAGTACCCACCACCGATGCTTGAGGATGCCTGTAGACTCATCAATTTAGGAGGAGAGAATATTCAAAATGATGGTTTCCA
Seq A exon
ATTTGTTACTGAGCTACAAGAGGATTTTTTGGGAGGTAATGGCTTCATTGGCCAAGAATTAAATTCTGGGAGAGAATCACCTTTTGTAAAGACGGAAGACAATGGAAGTGACTATTTGGTTTACCTTCCAAGCCAAATGTTTGAGCCACAAAAATTAATGATCAATTATGAAAAAGATCAAAAATCTGCAGAAATTGCAAGTCTCACTTCTG
Seq C2 exon
GACATGAAAATTATGGCAGAAAAGAAGAACCAGATCATACTTATGAACCTGGAGATGTCTCTCTTCAAGAATATTACATGGATGTGGCTTTCCTCATAGATGCTTCCCAAAGAGTAGGAAGTGATGAGTTTAAGGAAGTAAAAGCTTTTATAACCTCAGTGCTTGATTACTTTCACATTGCCCCCACTCCACTGACCTCCACCTTAGGAGACAGGGTTGCTGTCCTGAGCTACTCTCCTCCAGGCTATATGCCTAACACTGAAGAATGCCCTGTCTACCTGGAATTTGATTTGGTTACTTATAACAGTATACACCAAATGAAACATCATCTCCAAGACTCTCAACAGCTCAATGGAGATGTTTTTATTGGCCATGCCTTGCAGTGGACAATTGACAATGTCTTTGTAGGAACCCCCAATCTGAGGAAAAACAAAGTTATCTTTGTAATATCTGCTGGCGAAACCAACTCTTTAGACAAAGACGTCTTAAGGAATGTGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752-'35-39,'35-38,36-39=AN
Average complexity
A_S
Mappability confidence:
88%=100=75%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.018 A=0.128 C2=0.095
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0009223=VWA=WD(100=80.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
TCAATCAGTACCCACCACCGA
R:
CCTAAGGTGGAGGTCAGTGGA
Band lengths:
293-505
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains