Special

HsaINT0039270 @ hg38

Intron Retention

Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134815576-134815988:+
Coord C1 exon
chr9:134815576-134815629
Coord A exon
chr9:134815630-134815934
Coord C2 exon
chr9:134815935-134815988
Length
305 bp
Sequences
Splice sites
5' ss Seq
GCGGTAGGT
5' ss Score
9
3' ss Seq
GCTCGCTTTTGCCTCCATAGGGT
3' ss Score
10.26
Exon sequences
Seq C1 exon
GGCCCAGTGGGTTTTCCTGGAGATCCTGGCCCCCCCGGAGAGCCTGGCCCCGCG
Seq A exon
GTAGGTGCTCAAGAGGGCAAAGCCACCGGATCCCCCACAGTGCTGGCCTGCCTCTGCCAGCCCCATTTCCCCTCTTTCTGGTGGTTCTTTGTGATGAACTCCCACTGGGGCAGGCAATGTCCCAAAAGGCACTCGTGTTCCGGTGATCAGAGCAAGAAAACGCCTTTGACCCCACTGACCATGCTCTGTGCTGGCACCAGAATGGATTTGGGTTTTGGGAAGGGGCTGGAGATGCATTGGGAACTGGTGCATGAACTCAGGGTGCCATCCGGGGTTCAGCAAGGAGCTCGCTTTTGCCTCCATAG
Seq C2 exon
GGTCAAGATGGTCCCCCTGGTGACAAAGGAGATGATGGTGAACCCGGGCAGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635:ENST00000371817:51
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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