HsaINT0037959 @ hg38
Intron Retention
Gene
ENSG00000111799 | COL12A1
Description
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Coordinates
chr6:75152131-75152482:-
Coord C1 exon
chr6:75152333-75152482
Coord A exon
chr6:75152251-75152332
Coord C2 exon
chr6:75152131-75152250
Length
82 bp
Sequences
Splice sites
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
3' ss Seq
TGCCAGTGGTGTCATTTTAGCTC
3' ss Score
4.34
Exon sequences
Seq C1 exon
GGATGGAGTGTCTCACCAGAGCTGAGGCAGACATTGTGTTGCTGGTGGATGGATCATGGAGCATCGGCCGGGCAAATTTTAGAACCGTGAGGAGTTTCATTTCTCGTATTGTGGAAGTCTTTGACATTGGCCCCAAAAGAGTACAAATTG
Seq A exon
GTAGGTTCTGACAACATTGGAGCCATTTAGACATTTTTATCTTTCTCTTTCACATGCACTAATGCCAGTGGTGTCATTTTAG
Seq C2 exon
CTCTTGCTCAGTATAGTGGGGATCCCAGAACAGAGTGGCAGTTAAATGCACACAGAGACAAGAAGAGCTTGTTGCAAGCTGTGGCAAACTTGCCGTACAAAGGAGGCAATACTCTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000111799:ENST00000322507:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.053
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(23.1=78.4)
A:
NA
C2:
PF0009223=VWA=PU(16.8=95.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCGGCCGGGCAAATTTTAGAA
R:
GTTTGCCACAGCTTGCAACAA
Band lengths:
176-258
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