HsaINT0039305 @ hg38
Intron Retention
Gene
ENSG00000204262 | COL5A2
Description
collagen type V alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2210]
Coordinates
chr2:189064557-189065057:-
Coord C1 exon
chr2:189065004-189065057
Coord A exon
chr2:189064656-189065003
Coord C2 exon
chr2:189064557-189064655
Length
348 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
TCTGCTTTGCCTCGGTACAGGGT
3' ss Score
7.31
Exon sequences
Seq C1 exon
GGTGCTCCTGGCAATCGTGGTTTTCCAGGCTCTGATGGTTTACCTGGGCCAAAG
Seq A exon
GTGAGGTTGCCCTGTCAATGTTGATACTTACGTGGGGGGTGCTCCAGAAGATGCCATTTTTCAGCACGGTGATCTAGCTATGGCCTGCATGGGCTCAGATCCAGAAAGGAGATGGATACAAATACCAGGCCTAACCCCAATCCTCTCTTGTGTAATTCCTGTATTAAGAGGCATAGGGGGGAAGGATGCTAGTTGGCGGAATGTGGTGACAAAATTTTATACGTTATATCAGTGCCTTGATTTGTATGTTATATTAGTGCCTTGATTTGTAAAACGATAATTTTACTTCTGCTTGCTTTTGTTTTTCTATACTCTTTTTCTTCATGCATCTGCTTTGCCTCGGTACAG
Seq C2 exon
GGTGCTCAAGGAGAACGGGGTCCTGTAGGTTCTTCAGGACCCAAAGGAAGCCAGGGGGATCCAGGACGTCCAGGGGAACCTGGGCTTCCAGGTGCTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204262:ENST00000374866:24
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(20.0=100),PF0139113=Collagen=FE(17.9=100)
A:
NA
C2:
PF0139113=Collagen=PD(17.6=45.5),PF0139113=Collagen=FE(33.7=100)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
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
- Pre-implantation embryo development