Special

HsaEX0016510 @ hg38

Exon Skipping

Gene
ENSG00000172752 | COL6A5
Description
collagen type VI alpha 5 chain [Source:HGNC Symbol;Acc:HGNC:26674]
Coordinates
chr3:130345516-130376836:+
Coord C1 exon
chr3:130345516-130345981
Coord A exon
chr3:130373611-130373705
Coord C2 exon
chr3:130376237-130376836
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-'0-1,'0-0,1-1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref, Alt. ATG (>10 exons))

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:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
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