Special

HsaINT0039493 @ hg19

Intron Retention

Gene
ENSG00000163359 | COL6A3
Description
collagen, type VI, alpha 3 [Source:HGNC Symbol;Acc:2213]
Coordinates
chr2:238256450-238257027:-
Coord C1 exon
chr2:238256992-238257027
Coord A exon
chr2:238256513-238256991
Coord C2 exon
chr2:238256450-238256512
Length
479 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
3' ss Seq
CTTCTCGGCTTTCTTCCCAGGGT
3' ss Score
9.58
Exon sequences
Seq C1 exon
GGAGAAAGAGGATTCCCTGGATACCCAGGACCAAAG
Seq A exon
GTAAATAATCCCTGGTCGGTGAAGCATCATCATGATTTTGGGATGGCTCTGGTATGTCCATGGACTGAGAATCAGAATATCTTGGCATTAGTCTTGGGTCAGCCACTCAGTTAACTGGGCTACCCTGAGAAAGACCCTTCCTTCCCTAAAATACTCTCTCATCTGTCAAGTGGAGGTCATAATACGTACTTGTCCTGGTGTTTATGAGATTTAAATAAAATATGCTGCAATCAAAGTACTCTGTAAGCTGTGAAATGCTATAACCTACATGATAGTATCATTACTGATTAATTAAATTAAGACCATCTGCAAATACCACAAATATAGTAGTAACCCACTGGAAAAGTGAATCAAAACTAACCACTTGGCTGCCCGGGAAAAGTGTGACCCACACGTCTCCTGGATGTCTTACCCCACGGACCCTCAGTGAGATCTTCTGTTCCAAAGCTTACTGTGCCACTTCTCGGCTTTCTTCCCAG
Seq C2 exon
GGTAACCCAGGTGAACCTGGGCTAAATGGAACAACAGGACCCAAAGGCATCAGAGGCCGAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000163359-COL6A3:NM_004369:30
Average complexity
IR-S
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:
PF0139113=Collagen=PU(13.1=66.7)
A:
NA
C2:
PF0139113=Collagen=FE(32.8=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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