Special

HsaEX0016513 @ hg19

Exon Skipping

Gene
ENSG00000172752 | COL29A1
Description
collagen, type VI, alpha 5 [Source:HGNC Symbol;Acc:26674]
Coordinates
chr3:130189715-130203688:+
Coord C1 exon
chr3:130189715-130189811
Coord A exon
chr3:130190526-130190770
Coord C2 exon
chr3:130202879-130203688
Length
245 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCTCTATTACCTCAGACT
3' ss Score
7.59
5' ss Seq
AAGGTAATC
5' ss Score
7.46
Exon sequences
Seq C1 exon
GTGCCATCAACAAATATCCCACCGAAGATATGAAAGCCACATGTGTTAACATGACCTCTCCCAACCCAGAGAACGGTGGCACAGAAAACACTGTATT
Seq A exon
ACTTCTTCCTGGGATATATGAAATAAAGACAGAAAATGGTGATCTGTTTGATGAATTTGATTCCCAGGCACAACATCTCCTTGTATTAGGGAACAATCATAGTAGTGGTTCTGAGACAGCTACTGATTTGATGCAGAAGTTATATCTGCTCTTTTCAACTGAGAAACTGGCAATGAAAGACAAGGAAAAAGCACATTTAGAAGAAATTTCAGCTCTAGTGGTTGATAAACAGCAAGAAAAAGAAG
Seq C2 exon
ATGGTGAAGATACAAGGTCATCATAGGAGAAAAGAAGATAGCTCCACTGACATGTATAATCCCATGTGGTTCTAACCAGAATGTATAATCATCTGTTAGAGGTACTGTGGTAAATGACAGGGACTTTTCACAAAAACAATTGGCTAATAGCATGCTAAATTTGTTCTCCATCTCAAATCTTGAGGAGAAGAATTTTCGGAGTGAAGACATCAGTAAGAAGACCTGACAAACCAGGAATGATTTCATTTCTCCTGAGAACTGGGGAAACCGACCTATAAGAGTTAACTTTTCTTTGAAAGCTCTGCACAGTTCAGGCATCAATTTTGATGATGTATCTGCCTGTAAAAGATTGTCATTATTTTCAACACATCTGTATCTCAGATTGGACTCCTCTAAAAGCATTTGGAATTGGAATTTCCTAGGAATATCTTCTACTAATTCTTAAAACTGGAAAGCCATGCCCATGTCATCGGTTCTGGGGTGACCCTAACATTTCATCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172752_MULTIEX2-1/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.510 A=0.193 C2=0.786
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
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:
AACGGTGGCACAGAAAACACT
R:
GTCGGTTTCCCCAGTTCTCAG
Band lengths:
298-543
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development