Special

HsaINT0039491 @ hg38

Intron Retention

Gene
ENSG00000163359 | COL6A3
Description
collagen type VI alpha 3 chain [Source:HGNC Symbol;Acc:HGNC:2213]
Coordinates
chr2:237348349-237348663:-
Coord C1 exon
chr2:237348613-237348663
Coord A exon
chr2:237348385-237348612
Coord C2 exon
chr2:237348349-237348384
Length
228 bp
Sequences
Splice sites
5' ss Seq
AAAGTACGT
5' ss Score
7.99
3' ss Seq
AATCTATTTTTCCTTTATAGGGA
3' ss Score
10.33
Exon sequences
Seq C1 exon
GGAGATGACGGGAGAGACGGAGTTGGCAGTGAAGGACGCAGAGGCAAAAAA
Seq A exon
GTACGTATCTGCTGAGGATTATCCAAGCGTCCTTGCTGCCAGGAGGCTCCAAGGACAACTTCTGATGTGTTGTGTTTTAAAAGAATTATTTCTTTAAAAATTGTCTTTGTATTTGAGTGAGTGTTTTCGTTTGATGACTCAGCAGACATTTCTTTCTTTCAAGGTCAATTTATTTTAGATGAATTTAAATTAGAACCAAGTATTAAATAATCTATTTTTCCTTTATAG
Seq C2 exon
GGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163359:ENST00000295550:29
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:
PF0139113=Collagen=PU(13.1=66.7)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
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