HsaINT0039280 @ hg38
Intron Retention
Gene
ENSG00000130635 | COL5A1
Description
collagen type V alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2209]
Coordinates
chr9:134822998-134823469:+
Coord C1 exon
chr9:134822998-134823033
Coord A exon
chr9:134823034-134823415
Coord C2 exon
chr9:134823416-134823469
Length
382 bp
Sequences
Splice sites
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
3' ss Seq
ATTCTTTTCTTTCTCCCCAGGGT
3' ss Score
11.84
Exon sequences
Seq C1 exon
GGTCCGCCTGGTCCAAAAGGTGCTAAGGGCTCCTCG
Seq A exon
GTAAGTAACATGCTGCCCAGCCAGGCCAATGCCTGGAAGGTAGGGGAGGGCGACGGGTCCCCTGGCACGGGAACAAACTACCCAGACAACCGTCCTAGCTCAGGCCCTGCTGCTCACGATCCTCCCATCTTTCTACACTGACCCATGGCGGACTGAGGCAGGTGGGCTGCTCGCCGCCTGCCCTAGGAAGGGCTCCATCCCTCTCTGTTCTCATCTCAAGGATCCAGGAGGGTACAGGGGTCTCTGCCATTCTCTTCTCTGCTGTGGCTGATAGGGCCACCTCCCCCACATAGGTCTCCAGGGACCATTCTAGAGCTGAAGGTGGATTCAAAGTCCCCTCATACCTCTGTGACCAAGGGTTGATTCTTTTCTTTCTCCCCAG
Seq C2 exon
GGTCCAACTGGCCCGAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130635:ENST00000371817:60
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(12.2=100),PF0139113=Collagen=FE(18.3=100)
A:
NA
C2:
PF0139113=Collagen=FE(27.0=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development