Special

HsaEX0016510 @ hg19

Exon Skipping

Gene
ENSG00000172752 | COL29A1
Description
collagen, type VI, alpha 5 [Source:HGNC Symbol;Acc:26674]
Coordinates
chr3:130064359-130095679:+
Coord C1 exon
chr3:130064359-130064824
Coord A exon
chr3:130092454-130092548
Coord C2 exon
chr3:130095080-130095679
Length
95 bp
Sequences
Splice sites
3' ss Seq
TAAATAATTTTCTTTTGCAGAAC
3' ss Score
10.85
5' ss Seq
CAGGTATCA
5' ss Score
7.33
Exon sequences
Seq C1 exon
AAATGGCGATTCCTCTGTCTAAGTAGTAGAAGTGACCGCAGCTCGGCTGCTAGTAAAGATTGCCCTTGGTTTCTGAGAAATTCTGACTCCCTAAGTTCATTTGGCAGCCGGCGGCTTCTCTGAAACAAAGCCAGCAAACAGCTGGAGCGTCTCTGGACACTCACATTAAAACTTGTGAAGAGTTAAAAGCCCCAGGGAAGAGCCAGGCCAAGGGCACGGGTCAGCGCCGGCTTAAAAGACCCTCTCAGGGCACGAGGCGTTCGCTGCGGGAATCCACCTGCAGCTGTGCGGCGCGGACCAGGGCGTGCGGCGCGGACCAGGGCTTCCGGCGCGCGCTCTATCCAACTGCGCCGCGGGCGCCCGAGAGGCGCGCGTTTACTGCGCTCAGGAGCTCGGTGCAGCCTCTTCTGGAGAGTTGGGGGCGGTTTCCAGGGTCCGGAGTGTCCCCTGACCCCGGGAAAGCTGG
Seq A exon
AACAAAAGTAAAAATCTTCACTAACAAAATGAAGATCTTGCTAATTATATTTGTCCTAATCATTTGGACTGAAACATTGGCAGACCAGAGCCCAG
Seq C2 exon
GGCCAGGCCCTGTGTATGCAGATGTCGTGTTTCTGGTGGACAGCTCCGATCACCTGGGACCTAAGTCATTCCCATTCGTGAAAACGTTCATCAACAAAATGATCAACAGTCTCCCCATAGAGGCCAACAAATACCGTGTAGCCCTGGCCCAGTACAGCGACGAGTTTCACAGTGAATTCCATCTGAGCACCTTCAAAGGCAGAAGCCCCATGCTGAACCACCTCAAGAAGAACTTTCAGTTCATTGGCGGGTCCCTGCAGATAGGAAAGGCTCTTCAGGAGGCTCATAGGACCTACTTCTCTGCACCCATAAATGGGAGAGACAGGAAACAGTTTCCCCCAATTTTGGTGGTCCTGGCTTCGGCTGAGTCTGAGGATGAAGTGGAAGAGGCTTCGAAAGCCCTGCAGAAAGACGGGGTGAAAATTATCTCCGTGGGGGTGCAGAAAGCTTCTGAGGAAAATCTGAAGGCCATGGCCACATCCCATTTCCATTTCAACCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. ATG)

No structure available
Features
Disorder rate (Iupred):
  C1=NA A=0.000 C2=0.015
Domain overlap (PFAM):

C1:
NA
A:
NO
C2:
PF0009223=VWA=WD(100=88.1)


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:
TTTCCAGGGTCCGGAGTGTC
R:
GTTGGCCTCTATGGGGAGACT
Band lengths:
169-264
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development