HsaINT1008056 @ hg38
Intron Retention
Gene
ENSG00000204248 | COL11A2
Description
collagen type XI alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2187]
Coordinates
chr6:33177662-33178185:-
Coord C1 exon
chr6:33178132-33178185
Coord A exon
chr6:33177707-33178131
Coord C2 exon
chr6:33177662-33177706
Length
425 bp
Sequences
Splice sites
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
3' ss Seq
ACACCCATCTTGTGTTTCAGGGC
3' ss Score
10.82
Exon sequences
Seq C1 exon
GGACCTCGAGGTCTCCTTGGCCCCAAAGGCCCACCTGGTATTCCTGGACCCCCT
Seq A exon
GTAAGTGACTCCCTGACTTCTGACCCTGAGGTGACCCCTTGACCTCTCCAACTCTCCACCTTTCTAGCTGCCTTCCTGCTCCCTCTCCTCTCTCGGCATGCTTCCCATTCCCTGTGAGCTCCCCCTGCTCTGGCCCCACACTGCCCTGCCTCAGCATTCGCTCCCCGTGCACAGGGAGGGCCATGTGGCGTGGTGCCCTGAGGGCTCTGGGCATAGGAAATAAATCTTCAAGAAAAACAAAACCAAAGCCCACAAGCCCACAGATCCACAGTCCCACACACTGCAGGCCTGGGCCAGCTGTGTTTGCTTGGGTTTGGGATGGATTGGAGGTCTGACCGTCACACCCTCGGGAATGGCCGGGCCTCTGAAAACCACAGGTCCCTCCGGGCCACCTTCAGGCTGCTCACACCCATCTTGTGTTTCAG
Seq C2 exon
GGCGTCCGAGGCATGGATGGTCCCCAGGGCCCCAAAGGGAGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204248:ENST00000374708:19
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(21.8=100),PF0139113=Collagen=FE(22.1=100)
A:
NA
C2:
PF0139113=Collagen=FE(17.9=100),PF0139113=Collagen=FE(18.2=100),PF0139113=Collagen=PU(2.6=13.3)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
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