Special

HsaEX0016511 @ hg19

Exon Skipping

Gene
ENSG00000172752 | COL29A1
Description
collagen, type VI, alpha 5 [Source:HGNC Symbol;Acc:26674]
Coordinates
chr3:130098261-130107977:+
Coord C1 exon
chr3:130098261-130098893
Coord A exon
chr3:130103647-130104207
Coord C2 exon
chr3:130107423-130107977
Length
561 bp
Sequences
Splice sites
3' ss Seq
AGAATGCACTTCTTTTTCAGGCT
3' ss Score
6.44
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GAAGGAAAATTGCATGCGACTTGGACTGATGAGTTACAGCAATAGTGCCAAGACTATTTCTTTTCTTAAATCAAGCACAACCCAATCTGAATTTCAGCAGCAAATCAAGAATCTTTCTATCCAAGTTGGGAAATCCAATACAGGGGCTGCCATTGATCAGATGAGAAGAGACGGCTTCTCAGAGTCATATGGCAGCAGAAGAGCACAAGGAGTGCCTCAGATTGCAGTTCTGGTCACCCACAGACCATCAGATGATGAGGTGCATGATGCTGCGCTGAACCTTCGACTGGAGGATGTAAACGTGTTTGCCTTGAGCATCCAAGGGGCTAACAATACCCAGTTAGAAGAAATAGTGTCTTATCCTCCAGAACAGACAATTTCCACGCTGAAGTCCTATGCAGACTTAGAAACTTACAGTACAAAGTTCCTGAAAAAGCTCCAGAATGAAATATGGTCCCAAATTTCTACTTATGCTGAACAAAGGAATCTTGATAAAACTG
Seq A exon
GCTGTGTGGATACAAAAGAGGCTGATATCCACTTCCTCATTGATGGCTCAAGCAGCATCCAGGAGAAACAGTTTGAGCAAATCAAGAGATTTATGTTGGAAGTGACAGAAATGTTTAGCATTGGCCCAGACAAAGTCCGAGTTGGAGTTGTGCAGTATTCAGATGACACAGAAGTGGAATTTTATATCACTGACTATTCTAATGATATTGACTTAAGAAAGGCTATTTTTAACATTAAGCAACTAACTGGTGGAACTTATACTGGGAAAGCTCTGGATTACATACTGCAAATAATAAAAAATGGAATGAAGGATAGAATGAGCAAGGTTCCCTGTTACCTCATTGTGTTGACTGATGGGATGTCCACAGACAGAGTCGTGGAACCTGCTAAGAGACTAAGGGCTGAGCAAATCACTGTTCATGCAGTTGGCATTGGGGCAGCTAATAAAATAGAACTGCAAGAAATTGCTGGGAAAGAAGAAAGGGTTAGCTTTGGGCAGAACTTTGATGCTTTGAAAAGCATAAAAAATGAAGTCGTTCGTGAAATCTGCGCTGAAAAAG
Seq C2 exon
GATGTGAAGACATGAAGGCCGACATCATGTTTCTGGTGGACAGTTCTTGGAGTATAGGAAATGAAAATTTTAGGAAAATGAAAATCTTCATGAAAAACCTGTTAACTAAAATTCAAATTGGTGCAGACAAAACCCAGATTGGTGTTGTTCAGTTCAGTGATAAAACTAAGGAAGAGTTCCAGCTTAATAGATATTTTACACAGCAAGAAATTTCTGATGCAATAGATAGAATGTCTCTCATCAATGAAGGCACTTTAACTGGAAAGGCACTAAATTTTGTAGGTCAATACTTCACCCACTCCAAGGGGGCCCGTTTGGGGGCCAAAAAATTTCTCATCCTCATCACAGATGGAGTAGCGCAGGATGATGTGAGAGATCCTGCTAGAATTCTTCGGGGCAAAGATGTGACCATCTTCTCTGTAGGAGTATACAATGCCAATAGATCTCAGCTAGAAGAGATCAGTGGGGATAGCAGCCTAGTTTTTCATGTTGAGAACTTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752_MULTIEX1-2/4=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.047 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0009223=VWA=WD(100=84.4)
A:
PF0009223=VWA=WD(100=92.6)
C2:
PF0009223=VWA=WD(100=91.9)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATGGCAGCAGAAGAGCACAAG
R:
ACCAGAAACATGATGTCGGCC
Band lengths:
349-910
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