HsaINT0038422 @ hg38
Intron Retention
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94408183-94408380:+
Coord C1 exon
chr7:94408183-94408236
Coord A exon
chr7:94408237-94408335
Coord C2 exon
chr7:94408336-94408380
Length
99 bp
Sequences
Splice sites
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
3' ss Seq
TCCCTTTATTTTCTTCTTAGGGT
3' ss Score
10.74
Exon sequences
Seq C1 exon
GGAGCCCGTGGGCTTCCTGGTGAGAGAGGACGTGTTGGTGCCCCTGGCCCAGCT
Seq A exon
GTAAGTGCTTCCATTTTTGTTCAGTTTCATCCTTTTAAAAAATCTTCTAATGGCTGTCATTTAAGTTTCCACCTGATCTTCCCTTTATTTTCTTCTTAG
Seq C2 exon
GGTGCCCGTGGCAGTGATGGAAGTGTGGGTCCCGTGGGTCCTGCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692:ENST00000297268:14
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(20.5=100)
A:
NA
C2:
PF0139113=Collagen=FE(16.9=100),PF0139113=Collagen=PU(5.9=33.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGGCTTCCTGGTGAGAGAG
R:
GACCCACGGGACCCACAC
Band lengths:
87-186
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