HsaINT0038499 @ hg38
Intron Retention
Gene
ENSG00000101203 | COL20A1
Description
collagen type XX alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:14670]
Coordinates
chr20:63307490-63308090:+
Coord C1 exon
chr20:63307490-63307648
Coord A exon
chr20:63307649-63307970
Coord C2 exon
chr20:63307971-63308090
Length
322 bp
Sequences
Splice sites
5' ss Seq
TAGGTGGGT
5' ss Score
5.56
3' ss Seq
GCCATGCCCCTGCTCCCCAGGCC
3' ss Score
7.98
Exon sequences
Seq C1 exon
CCGGCCCCCAGTTCCGCTGCCTGCCCCCCGTGCCTGCTGACATGGTCTTCCTGGTGGACGGGTCCTGGAGCATTGGCCACAGTCACTTCCAGCAGGTCAAGGACTTCCTGGCCAGTGTCATCGCACCCTTTGAAATCGGGCCGGATAAGGTCCAAGTAG
Seq A exon
GTGGGTGCTGGCCCGGCCCGCCTCCTGCCCCACCCGGGTGTGGTCCCCACAGCTCTGCCAGAGGAGGCTGTGACCTGTGGGGGTCCCCGTACCAGCCAGGGCTCTCACCTTGTGGGGTGGGACGCCTGCTCCACATGGGGTGTTCTGGGGACCCCTCCGTGTGGAGGCCCTGGCTCTGCAAGCGTCCTCTCCCTGGGGACTGGCTACTGTGGCCAGGTGACCCCACAGAGGCACGTGCAGCTCTCAGGTGTGGCCTTGTGCCAAGCTCCCTGGGCATCTCAGCATTGGAAACTCAGCCCGTGGCCATGCCCCTGCTCCCCAG
Seq C2 exon
GCCTGACTCAGTACAGCGGGGATGCTCAGACTGAGTGGGACCTGAACTCCCTCAGCACCAAGGAACAGGTGCTGGCAGCTGTGCGCCGCCTCCGCTACAAGGGGGGGAACACGTTCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000101203:ENST00000422202:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.107 A=NA C2=0.093
Domain overlap (PFAM):
C1:
PF0009223=VWA=PU(23.7=74.1)
A:
NA
C2:
PF0009223=VWA=FE(23.7=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:
CCCCGTGCCTGCTGACAT
R:
CTGTGAACGTGTTCCCCC
Band lengths:
254-576
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