Special

HsaINT0038422 @ hg19

Intron Retention

Gene
ENSG00000164692 | COL1A2
Description
collagen, type I, alpha 2 [Source:HGNC Symbol;Acc:2198]
Coordinates
chr7:94037495-94037692:+
Coord C1 exon
chr7:94037495-94037548
Coord A exon
chr7:94037549-94037647
Coord C2 exon
chr7:94037648-94037692
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-COL1A2:NM_000089:14
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=FE(20.5=100)
A:
NA
C2:
PF0139113=Collagen=FE(16.9=100),PF0139113=Collagen=PU(5.9=33.3)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


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