HsaINT0038433 @ hg38
Intron Retention
Gene
ENSG00000164692 | COL1A2
Description
collagen type I alpha 2 chain [Source:HGNC Symbol;Acc:HGNC:2198]
Coordinates
chr7:94412068-94412682:+
Coord C1 exon
chr7:94412068-94412121
Coord A exon
chr7:94412122-94412583
Coord C2 exon
chr7:94412584-94412682
Length
462 bp
Sequences
Splice sites
5' ss Seq
GTCGTAAGT
5' ss Score
9.9
3' ss Seq
TGAAATAACTCTGCTTTCAGGGC
3' ss Score
7.64
Exon sequences
Seq C1 exon
GGTCTTCCTGGTTCCCCTGGAAATATCGGCCCCGCTGGAAAAGAAGGTCCTGTC
Seq A exon
GTAAGTATTGCTCATTTTCCATTATATTTTCAAGGACACTTATTGCACCCTTATCAAGTCTATTTTGTGGCTTATTTATACATGAACACATTGAAAATAAATATCAGACACATACATCATCTGGGAATGCAGAGTAATAGATTGTAATTATGGAGTCCAAATGAATACAGGACTGAAAGCAGAGCAGGGGAGAGAAAAACATGGCAGGGAAAATTGAAGCAGGTGACAAGGGGATGCAAGAGAAGGGAATGAGGGAAATTGCATACATACGAGATTGAATTGGCTATGTGTGTACTGACATCCTAGTTAGAAAAGGAAAATGGATTCATAATTTATTAACGCTTTATACAAGAAGCTCTATGCATTCAGAAAACTATTCTGTTTCATCCGTGGCAGCATCATAAGCTTGAGGTTGTGAGAATATGTTGACACTGAGTAAACTTGAAATAACTCTGCTTTCAG
Seq C2 exon
GGCCTCCCTGGCATCGACGGCAGGCCTGGCCCAATTGGCCCAGCTGGAGCAAGAGGAGAGCCTGGCAACATTGGATTCCCTGGACCCAAAGGCCCCACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164692:ENST00000297268:24
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=PU(11.4=44.4)
A:
NA
C2:
PF0139113=Collagen=FE(45.7=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping 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
- Autistic and control brains
- Pre-implantation embryo development