Special

HsaINT0038465 @ hg38

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94404556-94404746:+
Coord C1 exon
chr7:94404556-94404600
Coord A exon
chr7:94404601-94404692
Coord C2 exon
chr7:94404693-94404746
Length
92 bp
Sequences
Splice sites
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
3' ss Seq
ACATTCTTTTTTTCTTTTAGGGC
3' ss Score
12.69
Exon sequences
Seq C1 exon
GGCTTAATGGGACCTAGAGGCCCACCTGGTGCAGCTGGAGCCCCA
Seq A exon
GTAAGTACTGAAAGCTTGTAATGCCTCTTATGTAAAAAGACAGAGAATTAAGAAATAAAGGCTTGGAGTATGACATTCTTTTTTTCTTTTAG
Seq C2 exon
GGCCCTCAAGGTTTCCAAGGACCTGCTGGTGAGCCTGGTGAACCTGGTCAAACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692:ENST00000297268:7
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:
PF0139113=Collagen=FE(22.2=100)
A:
NA
C2:
PF0139113=Collagen=FE(27.0=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTTAATGGGACCTAGAGGCC
R:
GTTTGACCAGGTTCACCAGGC
Band lengths:
97-189
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